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Symptoms » Infant symptoms » Glossary
 

Glossary for Infant symptoms

Medical terms related to Infant symptoms or mentioned in this section include:

  • +r(1) and +r(16): A very rare chromosomal disorder where some of the body's cells has extra ring chromosomes of chromosome 1 and chromosome 16.
  • 10q Partial Trisomy: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 2-Methylbutyric Aciduria: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 46,XX chromosome 7 deletion p13: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 46,XX testicular DSD: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 46,XX testicular disorder of sex development: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
  • 7p2 Monosomy Syndrome: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • 8p-Syndrome, partial: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • ACE Inhibitors -- Teratogenic Agent: There is strong evidence to indicate that the use of ACE Inhibitors during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ACTH resistance: A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol.
  • AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
  • Aaa_unused symptom qualifiers: Internal web site information of no relevance to patients
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
  • Abdominal mass in newborns: An abdominal mass in newborns refers to a lump or growth in newborns.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Abuse dwarfism syndrome: Retarded growth, intelligence and social behavior due to child abuse. The child abuse can take the form of mental or physical cruelty or neglect.
  • Acalculia: An inability of being able to perform basic mathematical calculations
  • Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
  • Achalasia -- Addisonianism -- Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- addisonianism -- alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- adrenal -- alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
  • Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
  • Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
  • Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Campailla Martinelli type: A form of dwarfism where the main shortening occurs in the lower legs and arms.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Acute expiratory wheeze in infants: An acute expiratory wheeze in children is a condition in which there is an abnormal whistling sound heard when an infant breathes, often on exhalation.
  • Acute meningitis: Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis can develop in within hours or days whereas chronic meningitis develops over weeks or months.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
  • Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
  • Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
  • Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
  • Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
  • Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
  • Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
  • Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aging: The medical conditions from getting older.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali -- Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
  • Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Al Gazali-Khidr-Prem Chandran syndrome:
  • Al Murrah-induced lead poisoning: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Alarcon-induced lead poisoning: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayaidle-induced lead poisoning: Albayaidle is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayalde-induced lead poisoning: Albayalde is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Alcohol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Alcohol intoxication: excess intake of alcohol can lead to serious consequences
  • Alcohol use: Use of alcohol (as a symptom)
  • Alopecia -- hypogonadism -- extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
  • Alopecia -- macular degeneration -- growth retardation: A rare syndrome characterized mainly by repeated loss of hair, retarded growth and degeneration of the macula of the eye.
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
  • Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
  • Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
  • Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
  • Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
  • Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer's disease: A progressive degenerative disease of the brain of unknown cause
  • Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Amiloride -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amiloride during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Aminoacidopathies: Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.
  • Aminopterin -- Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amish brittle hair syndrome: A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature.
  • Amphetamine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyloidosis, familial cutaneous: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gastrointestinal problems and pneumonia.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
  • Anemia in newborn: Anemia in a newborn is an abnormally low number of blood cells in a newborn baby that can be caused by a variety of disorders, diseases and conditions.
  • Anemia of pregnancy: Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fetal death, retarded growth and other problems.
  • Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Angiofollicular lymph hyperplasia: A rare disorder of the lymph system characterized by the development of benign tumors in lymph tissue anywhere in the body.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Ankle defects short stature: A rare disorder characterized mainly by ankle defects and short stature
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Annular pancreas: An abnormality where a ring of pancreatic tissue forms around the duodenum and can block the flow of food through the digestive system. The severity of symptoms depends on the degree of constriction. Partial obstruction may not be detected until adulthood.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Antepartum Eclampsia: Antepartum eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Antepartum means that it occurs before delivery. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in blood pressure. The blood pressure can return to normal after delivery or may persist for a period of time.
  • Anterior Segment Anomalies of the Eye, Growth Retardation associated with Hypoplastic Pituitary Gland and Endocrine Abnormalities: A very rare condition characterized by the association of eye anomalies, retarded growth and pituitary and endocrine gland abnormalities. The parents of the affected children were related.
  • Anterior fontanelle bulging: bulging of the anterior fontanels.
  • Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis: A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome.
  • Anxiety, separation: A term used when children become upset when they are separated from a parent or carer. The situation is most commonly witnessed when children are taken to day care. Other situations include when the child is left with a baby sitter or made to sleep on his/her own. It is a normal condition during childhood.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Aortic supravalvular stenosis: A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature.
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Aphasia: inability to produce and comprehend language
  • Apnea in infants: Apnea in infants is the cessation of breathing in an infant.
  • Apnea in premature infants: Apnea in premature infants refers to a condition in which breathing has stopped in a premature infant.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Apraxia, oculomotor, Cogan type: A rare inherited condition where the person is unable to move eyes horizontally making it difficult to follow objects.
  • Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
  • Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arginine-glycine amidinotransferase deficiency: A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • Ascites in newborn: Ascites in a newborn refers to an abnormal build-up of fluid in a newborn infant's abdomen.
  • Ascites in newborns: Ascites in newborns is a condition in which there is an abnormal build-up of fluid in a newborn infant's abdomen.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Asperger Syndrome, Susceptibility to, 1: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 1 is linked to a defect on chromosome 3q25-q27.
  • Asperger Syndrome, Susceptibility to, 2: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 2 is linked to a defect on chromosome 17p13.
  • Asperger Syndrome, Susceptibility to, 3: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 3 is linked to a defect on chromosome 1q21-q22.
  • Asperger Syndrome, X-linked, Susceptibility to, 1: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xq13.
  • Asperger Syndrome, X-linked, Susceptibility to, 2: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xp22.3.
  • Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Aspirin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Aspirin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Asthma in pregnancy: Asthma in pregnancy refers to inflammation and constriction of the airways that is occurs during pregnancy. Women who are pregnancy may decide to stop taking their asthma medication in order to reduce the perceived risk of side effects to the developing fetus. The reality is that the potential harmful effects on the fetus are very small compared to the problems caused to mother and fetus if a severe asthma attack develops. Furthermore, uncontrolled asthma during pregnancy may also cause problems such as small birth weight or premature birth. Pregnant women should consult their physician in order to determine the optimal management of their condition. During pregnancy, asthma symptoms may become worse, improve or stay the same.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Atenolol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Atenolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Athyrotic hypothyroidism sequence: A rare congenital disorder characterized by a thyroid gland defect.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
  • Atrial Septal Defect 3: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 3 is caused by a mutation on chromosome 14q12. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 4: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 4 is caused by a mutation on chromosome 7p15-p14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 5: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 5 is caused by a mutation on chromosome 15q14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 6: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 6 is caused by a mutation on chromosome 4q32-q33.
  • Atrial septal defect 1: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 1 is caused by a mutation on chromosome 6p21.3.
  • Atrial septal defect 2: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 2 is caused by a mutation on chromosome 8p23.1-p22.
  • Atrichia -- mental and growth delay: A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair.
  • Attention Deficit Hyperactivity Disorder: Behavioral disorder with hyperactivity and/or inattention.
  • Atypical pyridoxine-dependent seizures: A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased.
  • Auditory Processing Disorder: Failure of the brain to correctly process sound.
  • Auditory perceptual disorder: A hearing disorder where the brain is unable to properly process or interpret auditory information it receives from the hearing organs.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Autism: Childhood mental condition with social and communication difficulties.
  • Autism, Susceptibility to, 15: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 15 is linked to a genetic defect on chromosome 7q35-q36.
  • Autism, X-linked, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 1 is linked to a genetic defect on chromosome Xq13.
  • Autism, X-linked, susceptibility to, 2: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 2 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, X-linked, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 3 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 1 is linked to a genetic defect on chromosome 7q22.
  • Autism, susceptibility to, 10: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 10 is linked to a genetic defect on chromosome 7q36.
  • Autism, susceptibility to, 11: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 11 is linked to a genetic defect on chromosome 1q24.
  • Autism, susceptibility to, 12: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 12 is linked to a genetic defect on chromosome 21p13-q11.
  • Autism, susceptibility to, 13: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 13 is linked to a genetic defect on chromosome 12q14.
  • Autism, susceptibility to, 14: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 14 is linked to a genetic defect on chromosome 16p11.2.
  • Autism, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 3 is linked to a genetic defect on chromosome 13q14.
  • Autism, susceptibility to, 4: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 4 is linked to a genetic defect on chromosome 15q11.
  • Autism, susceptibility to, 5: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 5 is linked to a genetic defect on chromosome 2q.
  • Autism, susceptibility to, 6: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 6 is linked to a genetic defect on chromosome 17q11.
  • Autism, susceptibility to, 7: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 7 is linked to a genetic defect on chromosome 17q21.
  • Autism, susceptibility to, 8: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 8 is linked to a genetic defect on chromosome 3q25-q27.
  • Autism, susceptibility to, 9: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 9 is linked to a genetic defect on chromosome 7q31.
  • Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Azarcon-induced lead poisoning: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Azathioprine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BIDS syndrome: A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S).
  • BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
  • Ba Bow Sen-induced lead poisoning: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
  • Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
  • Bali goli-induced lead poisoning: Bali goli (flat black bean) is a folk remedy used mainly by Indian and Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bamboo hair syndrome: A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The severity of the condition can vary with some infants having a poor prognosis due to severe allergies, infections and skin problems whereas others have milder symptoms and fewer allergic manifestations.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Barber-Say syndrome: A very rare syndrome characterized primarily by excessive hair growth, skin anomaly, large mouth and outward turned eyelids (ectropion).
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
  • Benazepril -- Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Benign Fasciculation Syndrome: Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause.
  • Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
  • Benzthiazide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Benzthiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
  • Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification: A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum).
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Betamethasone -- Teratogenic Agent: There is strong evidence to indicate that exposure to Betamethasone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Betaxolol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Betaxolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
  • Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
  • Biaxin -- Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bilateral renal agenesis dominant type: A rare birth defect where both kidneys are absent. The disorder results in death within days of birth.
  • Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
  • Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bint Al Zahab-induced lead poisoning: Bint Al Zahab is a folk remedy used by various ethnic groups (e.g. Indians, Saudi Arabians) to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
  • Birth prematurity: Birth prematurity is the birth of a fetus before it is fully developed at nine months gestation.
  • Birth symptoms: Symptoms related to childbirth.
  • Bisoprolol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Bisoprolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blind loop syndrome: A rare intestinal defect where there is a small loop in the intestines that allow digesting material to enter but not exit. The symptoms are variable depending on the size and location of the pouch.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Body symptoms: Symptoms affecting the entire body features.
  • Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
  • Bokhoor-induced lead poisoning: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone growth suppression: A condition which is characterized by the suppression of bone growth in an individual
  • Bone swelling in children (birth -- 5 years old): Bone swelling in children (birth -- 5 years old) refers to swelling of a bone in an infant, toddler or preschooler.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • Boyd-Stearns syndrome: A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis.
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
  • Brachydactyly -- arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachydactyly -- small stature -- face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features.
  • Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
  • Brevibloc -- Teratogenic Agent: There is evidence to indicate that exposure to Brevibloc (a heart drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Brittle hair -- mental deficiency: A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.
  • Bromides -- Teratogenic Agent: There is strong evidence to indicate that exposure to Bromides during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
  • Brosnan Syndrome: A very rare syndrome described in two sisters. The condition involved a variety of abnormalities including short stature and kidney and reproductive anomalies.
  • Bulging fontanel in children: A bulging fontanel in children is an abnormal swelling of the soft spot on the head of a child.
  • Bulging fontanelle: bulging of the anterior fontanels.
  • Bulging soft spots on a baby's head: A bulging fontanelle is an outward curving of an infant's soft spot (fontanelle)
  • Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Buprenorphine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Buprenorphine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Burnett-Schwartz-Berberian syndrome: A rare syndrome characterized by an inflammatory facial skin disorder and various congenital anomalies.
  • Byler Disease: A rare inherited conditions where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The conditions has an early onset and usually leads to end-stage liver disease by the end of the second decade.
  • Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
  • C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
  • CRMO, juvenile: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Caffeine -- Teratogenic Agent: There is strong evidence to indicate that exposure to caffeine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Camptomelic syndrome: A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities.
  • Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Captopril -- Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Carbamate insecticide poisoning: Excessive ingestion of carbamate insecticide drugs.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Cardem -- Teratogenic Agent: There is evidence to indicate that exposure to Cardem (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
  • Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
  • Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
  • Carnosinemia: Excessive amounts of carnisine in the blood.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cartelol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Cartelol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cartilage Hair Hypoplasia: An inherited disorder characterized by short-limb dwarfism as well as hair that is short, fine, brittle and often light colored.
  • Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
  • Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Cataract -- aberrant oral frenula -- growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Cataract -- ataxia -- deafness: A rare syndrome characterized by cataracts, ataxia and progressive deafness.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
  • Catatonic syndrome: A rare syndrome often seen in schizophrenics or associated with central nervous system disturbances or brain trauma. The symptoms tend to occur in episodes with periods of remission in between.
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Caudal appendage -- deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
  • Caustic or corrosive substance ingestion: Ingestion of a caustic (alkaline) or corrosive (acidic) substance. Many cases occur when children ingest cleaning products found in the home.
  • Cebagin-induced lead poisoning: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celipro -- Teratogenic Agent: There is evidence to indicate that exposure to Celipro (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Celiprolol -- Teratogenic Agent: There is evidence to indicate that exposure to Celiprolol (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
  • Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
  • Cerebellar hypoplasia -- endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
  • Cerebellar hypoplasia -- tapetoretinal degeneration: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
  • Cerebelloparenchymal disorder 3: A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebral Palsy, Ataxic, Autosomal Recessive: Ataxic cerebral palsy refers to an injury to the brain that results primarily in low muscle tone and poor coordination of movements. The ataxic autosomal recessive form is an inherited abnormality in the development of the brain which is linked to chromosome 9p12-q12
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
  • Cerebral palsy, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
  • Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
  • Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Cervical Teratoma: A cervical teratoma is a very rare form of germ cell tumor that occurs in the neck. These tumors usually develop in the fetus and tend to be large and benign even though they grow continually. In rare cases they can occur in adults in which case they tend to be malignant. These tumors can be quite large and cause problems in other neck structures. Sometimes surgery is required in the uterus or during delivery in order to ensure the infant has access to an airway.
  • Cervical hypertrichosis neuropathy: A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet.
  • Changes in infant behaviour: behaviour that is maladaptive and harmful
  • Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
  • Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
  • Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
  • Chediak-Higashi Syndrome: An inherited immune system disorder resulting in frequent infections, lack of skin and eye pigmentation, neurological diseases and early death.
  • Chemical meningitis: Symptomatic aseptic, chemical meningitis is a rare complication of myelography. A number of these cases have a history of one or more episodes of chemical meningitis preceding their arachnoiditis.
  • Chemical poisoning -- Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Child health symptoms: Symptoms related to pediatric (child) health.
  • Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
  • Childhood-onset cerebral X-linked adrenoleukodystrophy: A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Chlamydia: Common sexually transmitted disease often without symptoms.
  • Chlorambucil -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorambucil (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chlorothiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorothiazide ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cholestasis: A condition where bile formation or flow is reduced.

Conditions listing medical symptoms: Infant symptoms:

The following list of conditions have 'Infant symptoms' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Infant symptoms:

The following list of medical conditions have 'Infant symptoms' or similar listed as a medical complication in our database.

 

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