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Symptoms » Poor feeding » Glossary
 

Glossary for Poor feeding

Medical terms related to Poor feeding or mentioned in this section include:

  • 18-Hydroxylase deficiency: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
  • 2-Methylbutyric Aciduria: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency.
  • 3-methylcrotonyl-CoA carboxylase deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acute meningitis: Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis can develop in within hours or days whereas chronic meningitis develops over weeks or months.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
  • Aglossia: A congenital condition where the tongue is absent.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Anemia, Neonatal: Insufficient red blood cells that can carry oxygen around the body. It is common in premature births or can occur as a result of blood loss before, during or just after the birth.
  • Ankyloglossia -- heterochromia -- clasped thumbs: An extremely rare inherited condition characterized by clasped thumbs (adducted thumb), different colored eyes and a tongue anomaly where the tongue has limited mobility due to the fact that it is excessively attached to the floor of the mouth.
  • Aortic arches defect: A defect in the top part of the aorta (aortic arch) that consists of several arterial branches. There is a variety of defects that can occur and symptoms will be determined by the particular defect involved. Possible types of defects includes aortic coarctation and aortic arch hypoplasia.
  • Aortic supravalvular stenosis: A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature.
  • Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
  • Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Athyrotic hypothyroidism sequence: A rare congenital disorder characterized by a thyroid gland defect.
  • 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.
  • Beckwith-Wiedemann Syndrome: An inherited disorder marked by gigantism, exomphalos and macroglossia. Also called EMG syndrome and exophthalmos-macroglossia-gigantism syndrome.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Birth symptoms: Symptoms related to childbirth.
  • Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.
  • Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
  • 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 I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CDG syndrome type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • 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.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Child health symptoms: Symptoms related to pediatric (child) health.
  • Choroid Plexus neoplasms: A rare type of brain tumor that originates in the choroids plexus. The choroids plexus is located inside a space in the brain called the ventricles and produces cerebrospinal fluid. Symptoms are determined by the size, type and exact location of the tumor.
  • 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 10, Monosomy 10p:
  • 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/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 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 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 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
  • 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 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 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 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 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 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 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 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 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 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, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 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 of the genetic deletion.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part 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 duplicated.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part 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 duplicated.
  • Chromosome 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
  • Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 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 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Congenital Disorders of Glycosylation Type Ia: 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.
  • Congenital disorder of Glycosylation type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • Congenital disorder of glycosylation 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.
  • Congenital disorder of glycosylation type 1C: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.
  • Congenital disorder of glycosylation type 1F: 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 IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
  • Congenital disorder of glycosylation type 1H: 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 Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
  • Congenital disorder of glycosylation type 1I: 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 Ii is caused by a defect on chromosome 9q22 and involves a defect on the ALG2 gene.
  • Congenital disorder of glycosylation type 1K: 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 Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
  • Congenital disorder of glycosylation type 1X: Congenital disorder of glycosylation is a rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1X also involves thrombocytopenia with normal levels of phosphomannomutase and phosphomannose isomerase. This form of the condition is severe and results in death during infancy.
  • Congenital herpes simplex: An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.
  • Congenital myotonic dystrophy: A form of muscular dystrophy which is usually apparent at birth or within a few years. and affects the skeletal muscles, heart conduction, smooth muscle, eyes and the central nervous system. The range of severity varies from asymptomatic to fetal death.
  • Congenital tuberculosis: Fetal infection with tuberculosis
  • Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
  • Defect in synthesis of adenosylcobalamin: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
  • Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Deletion 10pter: 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.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 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.
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • Developmental problems: Physical or mental development difficulty.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Diabetes insipidus, nephrogenic type 2: A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • Diabetes insipidus, nephrogenic, dominant type: A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • Diabetes insipidus, nephrogenic, recessive type: A rare recessively inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • Diaphragmatic hernia, congenital: A birth defect involving an abnormal opening in the diaphragm which is a structure that assists breathing and keeps the abdominal organs from moving into the chest. The abdominal organs can protrude through this abnormal opening and restrict the growth of chest organs such as the lung and heart. The severity of the condition is variable depending on the size of the defect - some cases aren't diagnosed until adulthood.
  • Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
  • Digestive symptoms: Any symptoms affecting the digestive tract.
  • Diseases contagious contagious mother-to-fetus: Diseases contagious from mother to a fetus during pregnancy
  • Diseases contagious during childbirth: Diseases that are contagious during childbirth
  • Dominant cleft palate: An opening in the roof of the mouth that is inherited as a dominant trait (only one parent has to have the genetic defect for it to be passed on to offspring). The opening may be covered by skin or completely open. The size of the opening can affect the severity of symptoms.
  • Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Duplication 12p: 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.
  • Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part 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 duplicated.
  • Ear, patella, short stature syndrome: A very rare inherited disorder abnormalities of the inner and outer ear structures, missing kneecap and short stature as well as other physical and developmental abnormalities.
  • Eating symptoms: Symptoms related to eating.
  • Enterovirus antenatal infection: Fetal infection with enterovirus. The condition is extremely rare but infection around the time of birth often results in death or paralysis in survivors. The type and severity of symptoms is determined by the exact type of virus involved and at what stage of development the infection occurs.
  • Failure to thrive: Inadequate or interrupted physical growth.
  • Fallot syndrome: A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle.
  • Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
  • Food symptoms: Symptoms related to food.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Gingivostomatitis: Mouth infection typically from first exposure to cold sores and subsequent viral HSV-1 infection.
  • Glossopalatine Ankylosis -- Hypoglossia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III B involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge. The tongue is also absent or underdeveloped.
  • Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III C involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge. Other primary features include and absent or underdeveloped tongue as well as variable deficiencies of the digits.
  • Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III E involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge. Other primary features include and absent or underdeveloped tongue as well as variable deficiencies of the limbs and digits.
  • Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III D involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge. Other primary features include and absent or underdeveloped tongue as well as variable deficiencies of the limbs.
  • Head symptoms: Symptoms affecting the head or brain
  • Hereditary sensory and autonomic neuropathy 3: A very rare inherited disorder affecting the peripheral and autonomic nervous system and characterized by reduced tear production, excessive sweating, poor body temperature control, blood pressure problems, impaired sensation and poor muscle control.
  • Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
  • Herpes, Neonatal -- Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
  • Herpes, Neonatal -- Disseminated: Disseminated neonatal herpes is a widespread infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Brain infection will occur in over half of infants with the disseminated form.
  • Holocarboxylase synthetase deficiency: An inherited disorder where the enzymes that use the vitamin biotin are defective.
  • Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
  • Hyperglycinemia: Increased blood levels of glycine. There are two types of hyperglycinemia (ketotic and nonketotic) with different symptoms.
  • Hypertension in children under one year: Hypertension in children under one year is a condition in which a child under the age of one year has an abnormal elevation in blood pressure.
  • Hypoglossia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type I A is characterized by an underdeveloped tongue.
  • Hypoglossia -- Hypodactylia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II A involves an underdeveloped as well as variable degrees of absence of digits.
  • Hypoglossia -- Hypodactylomelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II C involves an underdeveloped as well as missing digit and limb anomalies.
  • Hypoglossia -- Hypomelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II B involves an underdeveloped as well as limb anomalies.
  • Hypoglossia with Situs Inversus: A very rare birth malformation involving an abnormally small tongue (large portion is missing) and situs inverses which is a medical term for organs which are located on the wrong side of the body - e.g. heart on the right side of the body and liver on the left side of the body.
  • Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
  • Impairment of oral perception: A rare disorder where the mouth lacks the ability to detect sensations which affects oral function.
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Infant botulism food poisoning: Very dangerous food poisoning needing medical attention.
  • Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
  • Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Intraoral Bands -- Hypoglossia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV B involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside the mouth e.g. the upper and lower gums may be partially fused. The tongue is also absent or underdeveloped.
  • Intraoral Bands -- Hypoglossia -- Hyopmelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV D involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside the mouth e.g. the upper and lower gums may be partially fused. Other primary features of the condition are an underdeveloped or absent tongue and variable deficiencies of the limbs.
  • Intraoral Bands -- Hypoglossia -- Hypodactylia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV C involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside the mouth e.g. the upper and lower gums may be partially fused. Other primary features of the condition are an underdeveloped or absent tongue and variable deficiencies of the digits.
  • Intraoral Bands -- Hypoglossia -- Hypodactylomelia: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV E involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside the mouth e.g. the upper and lower gums may be partially fused. Other primary features of the condition are an underdeveloped or absent tongue and variable deficiencies of the digits and limbs.
  • Intraoral Bands and Fusion: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV A involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside the mouth e.g. the upper and lower gums may be partially fused.
  • Isobutyric aciduria: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Isobutyryl-coenzyme A dehydrogenase deficiency: An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine.
  • Isolated Hypoglossia: A birth defect where the tongue is missing or underdeveloped.
  • Juvenile pilocytic astrocytoma: A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may vary depending on the size and location of the tumor.
  • Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
  • Lissencephaly type 1, due to LIS 1 anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Type 1 is caused by a defect on the LIS1 gene on chromosome 17p13.3. The severity of the symptoms are variable depending on the severity of the brain abnormality. Miller-Dieker syndrome is a subtype of this condition.
  • Lissencephaly, isolated: A rare brain malformation where the surface of the brain is smoother than normal.
  • Lissencephaly, type 1, X-linked: Abnormal brain development characterized by an abnormally smooth brain. This form of the disorder is inherited in a X-linked manner (defect on the DCX gene) and the corpus callosum fails to develop. Males tend to be affected more severely than females.
  • Long-Chain Acyl-CoA Dehydrogenase Deficiency: A condition which is characterized by a deficiency in long chain acyl-CoA dehydrogenase
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • Macroglossia: An enlarged tongue out or proportion to the size of the mouth.
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive: A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
  • Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
  • Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
  • Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
  • Maple syrup urine disease, type 2:
  • Maple syrup urine disease, type 3:
  • Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
  • Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
  • Meningitis: Infection of the membrane around the brain (as a symptom)
  • Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
  • Menkes Disease: Genetic disease of copper deficiency.
  • Methylmalonic acidemia, vitamin B12 responsive: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning. The condition responds to the administration of vitamin B12.
  • Methylmalonic aciduria -- homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
  • Microencephaly: Small brain. The condition is often characterized by a small head and neurological problems. The type and severity of symptoms are variable.
  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Mitochondrial trifunctional protein deficiency: A rare genetic condition where the body is unable to convert certain fats to energy. More specifically, there is insufficient levels of a particular enzyme needed to metabolize a type of fat called long-chain fatty acids.
  • Mixed Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy (e.g. spastic, athetoid, ataxic) and a combination of two or more types is known as mixed cerebral palsy. The symptoms of mixed cerebral palsy usually involves spasticity and athetoid movements but other variations such as ataxia can occur.
  • Mobius syndrome: A rare genetic condition characterized by defective cranial nerves (6th and 7th), deafness, facial nerve paralysis and other abnormalities.
  • Monosomy 1p36: 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 range and severity of symptoms is variable with some cases being relatively mild.
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Muscular dystrophy, congenital, type 1C: A recessively inherited muscle disease characterized by muscle weakness and wasting from infancy. Sufferers are generally unable to achieve the ability to walk unaided.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
  • Myopathy, Congenital, Compton-North: A familial form of congenital muscle disease resulting from a genetic anomaly.
  • NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Nager Syndrome: A congenital defect syndrome
  • Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
  • Neonatal bacterial meningitis: Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection.
  • Neonatal tetanus: Muscle tetanus of the very young infant
  • Neuronal Migration Disorders: Group of disorders caused by abnormal growth of nerves in the brain and head.
  • Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
  • Niemann-Pick disease, type C2: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
  • Niemann-Pick disease, type D: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. Type D is no longer a relevant term as research has shown that it has the same genetic mutation as Type C and is therefore the same condition.
  • Non-ketotic hyperglycinemia: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system.
  • Oral-facial cleft: A birth defect involving an opening or cleft in the upper lip as well openings or clefts in the soft or hard palate (roof of the mouth)
  • Orofacial Cleft:
  • Orofacial Cleft 1: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 1 is linked to a genetic defect on chromosome 6p24.
  • Orofacial Cleft 10: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 10 is linked to a genetic defect on chromosome 2q32.2-q33.
  • Orofacial Cleft 11: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 11 is linked to a genetic defect on chromosome 14q22-q23.
  • Orofacial Cleft 12: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 12 is linked to a genetic defect on chromosome 8q34.3.
  • Orofacial Cleft 2: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 2 is linked to a genetic defect on chromosome 2p13.
  • Orofacial Cleft 3: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 3 is linked to a genetic defect on chromosome 19q13.
  • Orofacial Cleft 4: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 4 is linked to a genetic defect on chromosome 4q.
  • Orofacial Cleft 5: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 5 is linked to a genetic defect on chromosome 4p16.1.
  • Orofacial Cleft 6, Suseptibility to,: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 6 is linked to a genetic defect on chromosome 1q.
  • Orofacial Cleft 7: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 7 is linked to a genetic defect on chromosome 11q.
  • Orofacial Cleft 8: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 8 is linked to a genetic defect on chromosome 3q27.
  • Orofacial Cleft 9: An orofacial cleft is a facial malformation present at birth. It can take the form of a cleft lip and/or a cleft palate. The degree of clefting affecting the lip and/or palate is variable. Researchers have discovered a number of genes linked to an increased susceptibility to being born with an orofacial cleft. Type 9 is linked to a genetic defect on chromosome 13q33.1-q34.
  • Oromandibular and Limb Hypogenesis Syndrome, Type I: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type I involves only an underdeveloped or missing tongue.
  • Oromandibular and Limb Hypogenesis Syndrome, Type II: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II involves an underdeveloped or missing tongue as well as missing digits or limb deficiencies.
  • Oromandibular and Limb Hypogenesis Syndrome, Type V: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type V involves an underdeveloped tongue as well as various other anomalies - syndromes such as Hanhart syndrome, Pierre Robin syndrome, Moebius Syndrome and Amniotic Band syndrome fall into this category.
  • Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
  • Partial agenesis of corpus callosum: A rare birth defect where part of the corpus callosum is absent. The corpus callosum is the area that connects the two main halves of the brain (cerebral hemispheres). Severity of symptoms is determined by how much of the structure is missing. Mild cases tend to involve headaches, seizures and speech problems which don't appear for years.
  • Partial lissencephaly: A rare birth defect where the a part of the brain's surface is abnormally smooth. Severity of symptoms is determined by the extent of the defect.
  • Perisylvian syndrome: A very rare nerve disorder characterized by weakness or paralysis of face, jaw tongue and throat muscles. Other symptoms include seizures, delayed development and mental retardation.
  • Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
  • Pierre Robin Sequence: A syndrome characterized by the symptoms of micrognathia, cleft palate, glossoptosis, and absent gag reflex
  • Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
  • Polymicrogyria: Polymicrogyria refers to abnormal brain development where the brain has abnormally smooth gyri (convolutions) on the surface of the brain. The anomaly is often occurs as part of another syndrome. Patients can present with a wide range and severity of symptoms which can make the prognosis difficult to determine.
  • Progressive 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. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
  • Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
  • Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
  • Pyruvate carboxylase deficiency:
  • Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
  • Renal tubular acidosis, distal: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
  • Renal tubular acidosis, distal -- type I: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type I also involves potassium level abnormalities.
  • Renal tubular acidosis, distal -- type III: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type III involves the potassium level abnormalities of type I as well as bicarbonate level abnormalities resulting from excessive bicarbonate removal from the blood at the proximal part of the kidney tubules.
  • SBCAD deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • Severe infantile axonal neuropathy: A rare disorder involving the early onset of severe neuropathy.
  • Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD): A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
  • Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
  • Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
  • Spinal Muscular Atrophy type I: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Spinal muscular atrophy with respiratory distress 1: An inherited neuromuscular disease that causes progressive weakness in the arm and chest muscles leading to severe respiratory problems early in life. Sufferers are never able to sit independently and breathing problems progress rapidly with breathing assistance needed within the first five years.
  • Streptococcal Group B invasive disease: Infection with bacteria called Group B Streptococcus which can cause severe symptoms or even death. The bacteria occur in the stomach and the urogenital tract of females and are normally harmless and cause no symptoms. However, it can cause a range of diseases in newborns, the elderly and people with poor immune systems.
  • Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
  • Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
  • Syngnathia -- cleft palate: A very rare syndrome characterized by the association of a cleft palate as well as the adhesion at birth of the upper and lower jaw by fibrous tissue.
  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
  • Tay-Sachs disease -- juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
  • Tetralogy of Fallot: A condition which is characterized pulmonary stenosis, interventricular septal defect, right ventricular hypertrophy and dextroposition of the aorta
  • The Methylmalonic Acidemias: A condition which is characterized by an excess of methylmalonic acid in the blood
  • Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
  • Transposition of great arteries: A congenital malformation where the aorta and pulmonary artery are transposed which causes oxygenated blood from the lungs to be sent back to the lungs and de-oxygenated blood to be sent to body tissues. Often there is some other defect such as an opening in the heart chambers which allows mixing of the blood and hence survival is possible for a short while at least.
  • Transposition of the great arteries: A condition which is characterized by transposition of the great arteries
  • Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Truncus Arteriosus: A rare congenital heart vessel abnormality where the heart has only one artery coming out of it which forms the aorta and pulmonary artery and delivers blood to the body and the lungs. Normally the blood flow to the body and the lungs is carried out through separate blood vessels.
  • Urea Cycle Disorders: Any disorder that affects the urea cycle.
  • Valinemia: A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.
  • Van Goethem syndrome: A syndrome which is characterised by multiple birth defects.
  • Velopharyngeal incompetence: A condition which is characterised by the incompetence of the velopharyngeal to close due to any cause
  • Velopharyngeal insufficiency: A condition which is characterized by failure of velopharyngeal closure due to cleft palate
  • Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
  • Weleber Hecht Bigley syndrome: A syndrome that is characterised by cataract hyperostosis and dislocating patella
  • Whooping Cough: An infectious condition caused by the bacteria Bordetella pertussis
  • Wiedemann-Beckwith syndrome: A rare genetic disorder characterized by an enlarged tongue, omphalocele, excessive birth weight and ear creases.
  • Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
  • Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.

Conditions listing medical symptoms: Poor feeding:

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Conditions listing medical complications: Poor feeding:

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