Glossary for Skull symptoms

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

11q Partial Trisomy: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
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.
1q proximal deletion: A rare chromosomal disorder where the proximal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
1q terminal deletion: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
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.
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.
2q22-q24 deletion: A rare chromosomal disorder where part of the long arm (q22-q24) 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-methylglutaconic aciduria, type 4: 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 4 is characterized by symptoms which overlap type 1 and 3.
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.
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
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.
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.
ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
ATR-X syndrome: A rare X-linked disorder that affects males and is characterized by mental retardation and alpha thalassemia.
Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
Abnormal head shape in children: Abnormal head shape in children is skull that is irregular or deviates from the normal head shape, possibly indicating pathology.
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.
Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
Acetaminophen -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen 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.
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.
Achalasia microcephaly: A very rare syndrome characterized primarily by a small head and achalasia which involves esophageal problems such as enlargement.
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 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
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.
Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
Acitretin- Teratogenic Agent: Reports indicate that the use of Acitretin during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. Acitretin should not be taken by women who are pregnant or planning on becoming pregnant.
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.
Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
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: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
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.
Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
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 atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
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.
Acromegaloid facies -- hypertrichosis: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
Acromegaly due to growth hormone-secreting pituitary adenoma: Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors.
Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various 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.
Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
Acute hemorrhagic leukoencephalitis: A rare degenerative brain disease where the patient suffers edema, many small hemorrhages, necrosis of blood vessel walls, demyelination of nerve fibers. Histiocytes, lymphocytes and neutrophils also enter the meninges. Symptoms include severe headache, fever, vomiting and sometimes convulsions and unconsciousness. Also called acute hemorrhagic leukoencephalitis.
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.
Acute sinusitis: An acute inflammation of the sinuses
Acyclovir -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir 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.
Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
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).
Adriamycin -- Teratogenic Agent: There is evidence to indicate that exposure to Adriamycin (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.
Aflatoxin B1- Teratogenic Agent: Reports indicate that the use of Aflatoxin B1 during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. The effect on human fetuses has not been conclusively determined.
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 -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
Aglossia-Adactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
Aglossia-Hypoactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
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 .
Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
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 Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
Al Gazali-Khidr-Prem Chandran: A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance.
Al Gazali-Khidr-Prem Chandran syndrome:
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.
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.
Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
Allanson-Pantzar-McLeod syndrome: A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage.
Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
Alopecia, epilepsy, oligophrenia syndrome of Moynahan: A rare condition characterized by alopecia, epilepsy, mental retardation and a small head.
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-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
Alpha-mannosidosis, adult-onset form:
Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
Ameloblastoma: A congenital tumor of the pituitary gland. Also called craniopharyngioma, craniopharyngeal duct tumor, pituitary adamantinoma or Rathke's pouch tumor.
Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
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.
André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
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.
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.
Anonychia -- ectrodactyly: A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly).
Anonychia -- microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
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 -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
Anophthalmia plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
Anterior fontanelle bulging: bulging of the anterior fontanels.
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.
Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
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.
Arena syndrome: A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia).
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.
Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
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 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
Arthrogryposis, distal, type 2E: A rare syndrome characterized by contractures of the fingers and jaw.
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies: A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies.
Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
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.
Asymmetrical face: Asymmetrical face occurs when the two halves of the face are not symmetrical.
Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
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.
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.
BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
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.
Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Baraitser Brett Piesowicz syndrome: A very rare syndrome characterized by a small head and calcification in the brain.
Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
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.
Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
Basilar skull fracture: is a fracture which involves the base of the skull. It is very rare and occurs in 4% of head injury cases
Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
Battle's sign: ecchymosis over the mastoid process of the temporal bone.
Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
Beare-Stevenson cutis gyrate syndrome:
Beckwith-Wiedemann Syndrome: An inherited disorder marked by gigantism, exomphalos and macroglossia. Also called EMG syndrome and exophthalmos-macroglossia-gigantism syndrome.
Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
Benign jaw growths: Benign jaw growths are tumors or masses that are not cancerous.
Benign jaw growths in children: Benign jaw growths in children include non-cancerous lumps or masses that grow in the jaw of a child.
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.
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 parotid gland enlargement: enlargement of the parotid glands .
Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
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.
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.
Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
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 -- ptosis -- esotropia -- syndactyly -- short stature: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
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 telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation: A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth.
Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
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.
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.
Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
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 symptoms: Symptoms affecting the body's bones
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.
Bosviel syndrome: A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation.
Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
Bowen-Conradi Syndrome: A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.
Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
Brachioskeletogenital syndrome: A rare syndrome characterized by
Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Brachydactyly -- dwarfism -- mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
Brachydactyly -- small stature -- face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
Brain Stem Neoplasms: A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location.
Brain abscess: abscess in the brain may involve any of the lobes of the brain
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.
Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
Broad nose bridge: A broad nose bridge is the bony upper part of the nose, closest to the forehead, that is wider and larger than usual.
Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
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.
Burkitt's lymphoma: A rare type of non-Hodgkin's lymphoma that occurs mostly in African children and is often initiated by the Epstein-Barr virus. Also called African lymphoma or Burkitt's tumor.
Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
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.
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.
CDG syndrome type 4: 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 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
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.
Calabro syndrome: A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects.
Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
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 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 syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
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.
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 Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth.: A rare syndrome characterized by asymmetrical face and limbs, lymphatic malformations of the face and neck, capillary malformation of the lower lip and overgrowth of parts or all of the body.
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.
Carbimazole -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbimazole 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.
Carbon Baby Syndrome: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies: A newly described syndrome characterized by heart malformations, cleft lip/palate, small head and digital anomalies.
Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
Carpal deformity -- micrognathia -- microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
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
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).
Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
Cephalic disorders: Various congenital brain defects
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 atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
Cerebellar hypoplasia -- endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
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.
Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
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.
Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
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.
Cherubism: An inherited condition marked by bone degradation of the jaws followed by development of fibrous tissue which causes the face to swell and hence have a cherubic appearance.
Chewing difficulty: Chewing difficulty is a condition in which a person struggles or is unable to chew normally.
Chin bleeding: Bleeding from the chin
Chin blueness: A blue discolouration on the chin
Chin bruise: A haematoma that occurs on the chin.
Chin burning sensation: A burning sensation located on the chin
Chin coldness: A cold sensation occurring on the chin
Chin lump: A palpable lesion located anatomically on the chin
Chin numbness: A loss of sensation located on the chin
Chin paresthesia/ tingling: A loss of sensation located on the chin
Chin rash: An eruption on the skin of the chin.
Chin sensitive: Raised responsiveness of the chin to stimulus.
Chin spasm: A sudden involuntary contraction of a muscle or of muscles in the chin.
Chin symptoms: Symptoms affecting the chin
Chin tingling/paresthesias: A tingling and numbness that is located at the chin
Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
Choanal atresia -- deafness -- cardiac defects -- dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
Chondrodysplasia punctata, brachytelephalangic: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
Chondrodysplasia punctata, tibia-metacarpal type: A rare inherited disorder involving abnormal skeletal development and characterized mainly by short shin bones and shortness of some metacarpal bones (hand bones).
Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Chorioretinopathy -- microcephaly, autosomal recessive: A rare, recessively inherited disorder characterized by a small head and a degenerative eye condition.
Chorioretinopathy dominant form -- microcephaly: A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition.
Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
Chromosome 1 ring: A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight.
Chromosome 1(q12q22) duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities.
Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
Chromosome 1, monosomy 1p31 p22: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.
Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
Chromosome 1, proximal deletion:
Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 10 ring:
Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 10, Monosomy 10p:
Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
Chromosome 10, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
Chromosome 11, Partial Monosomy 11q: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 11;14 translocation: A rare chromosomal disorder where some genetic material from chromosome 11 is moved to chromosome 14. Only one reported case.
Chromosome 11p, partial deletion: A rare genetic syndrome caused by the deletion of part of the genetic material in the short arm of chromosome 11. The type and severity of symptoms may vary depending on the exact size and location of the genetic material that is missing. The genetic abnormality is often associated with Wilms' tumor and aniridia (complete or partial absence of the iris of the eye).
Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
Chromosome 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 14 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 14 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing. The disorder is characterized by growth and mental retardation and characteristic facial features.
Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
Chromosome 14, deletion 14q, partial duplication 14p: A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects.
Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
Chromosome 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
Chromosome 15q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the deleted genetic material.
Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 15q, partial duplication (unbalanced translocation): A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
Chromosome 18, Monosomy 18p: 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.
Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
Chromosome 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.
Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 1q21.1 Deletion Syndrome: A rare chromosomal disorder caused by the deletion of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were mental retardation and various physical anomalies. The manifestations in individuals is quite variable.
Chromosome 1q21.1 Duplication Syndrome: A rare chromosomal disorder caused by the duplication of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were autism and mental retardation as well as other physical anomalies.
Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
Chromosome 2, monosomy 2q: 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.
Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
Chromosome 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
Chromosome 2p16.1-p15 Deletion Syndrome: A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies.
Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
Chromosome 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
Chromosome 3q29 microduplication syndrome: A rare chromosomal disorder where a small portion of chromosome 3 is duplicated. The main features are mental retardation and some minor facial anomalies.
Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
Chromosome 4, Monosomy Distal 4q: A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion.
Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
Chromosome 4, partial trisomy distal 4q: A rare chromosomal disorder involving the duplication of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the duplicated portion.
Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.

Conditions listing medical symptoms: Skull symptoms:

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