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Symptoms » Learning disability » Glossary
 

Glossary for Learning disability

Medical terms related to Learning disability or mentioned in this section include:

  • 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-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 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.
  • 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.
  • 6-pyruvoyl-tetrahydropterin synthase deficiency: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
  • 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.
  • 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.
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • 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.
  • Arakawa syndrome 1: An inherited metabolic disorder where an enzyme deficiency (glutamate formiminotrransferase) causes mental and physical retardation and degeneration of brain tissue.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • 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.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • Autism: Childhood mental condition with social and communication difficulties.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Behavioral symptoms: Symptoms of personal behavior.
  • Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • 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, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Brain symptoms: Symptoms affecting 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.
  • C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cerebral palsy, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other 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 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
  • Child abuse: Physical, sexual, emotional abuse or neglect of child.
  • Child health symptoms: Symptoms related to pediatric (child) health.
  • Childhood disintegrative disorder: A rare disorder where a period of normal development (a couple of years) is followed by delays in the development of motor, social and language skills. Previously acquired skills are lost.
  • Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
  • 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 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 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 21 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 21 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 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, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • 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 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • 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 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 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 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 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
  • Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 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.
  • Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results 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 9 Ring: A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion.
  • Chromosome 9 inversion or duplication: A very rare genetic disorder where a portion of chromosome 9 is inverted or 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 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
  • Chronic Illness: Any form of continuing chronic illness.
  • Chylomicron Retention Disease: A rare condition characterized by the inability of the intestines to absorb fats from the diet which cause failure to thrive in infants.
  • Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
  • Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
  • Cognitive impairment: General loss of mental or cognitive ability
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Coloboma uveal with cleft lip palate and mental retardation: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
  • Coloboma, cleft lip/palate and mental retardation syndrome: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
  • Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
  • 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 2A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2A has a GlcNAc transferase 2 enzyme defect.
  • Congenital hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
  • 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 syphilis: Syphilis inherited from mother during pregnancy.
  • Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
  • Corpus callosum agenesis-neuropathy: A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.
  • Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
  • Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • D-glycericacidemia: A rare metabolic disorder where the deficiency of an enzyme (D-Glycerate Kinase) causes high levels of glycine in the body.
  • Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.
  • De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
  • Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • 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.
  • Delleman-Oorthuys syndrome: A rare birth disorder characterized by eye cavity cysts, brain anomalies, facial skin tags and various other skin lesions.
  • Desbuquois syndrome: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • 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.
  • Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.
  • Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
  • Disability: Inability to function normally
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
  • Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
  • Ehlers-Danlos syndrome type IX: A rare genetic connective tissue disorder involving a defective copper metabolism and characterized by mildly hyperextensible skin, lax joints, bladder problems and chronic diarrhea.
  • Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • Face symptoms: Symptoms affecting the face
  • Faciocardiorenal syndrome: A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
  • Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Farber's disease: A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.
  • Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
  • Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
  • Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
  • Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
  • Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
  • Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues.
  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
  • GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
  • GOMBO syndrome: A rare syndrome characterized by retarded growth, eye abnormalities, short fingers and mental deficiency (oligophrenia).
  • Galloway-Mowat Syndrome: A condition which is characterized by microcephaly, hiatal hernia and nephrotic syndrome
  • Gamma aminobutyric acid transaminase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called Beta-aminobutyrate aminotransferase.
  • Gangliosidosis GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
  • Giant axonal neuropathy: A rare genetic disorder characterized by incoordination, vision problems and dementia caused by abnormalities of a nerve cell component.
  • Glucose transport defect, blood-brain barrier: A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal development. The blood sugar level remains normal. Fasting exacerbates symptoms which can very in severity depending on the degree of deficiency.
  • Glucosephosphate isomerase deficiency: A rare inherited condition where a lack of the enzyme glucosephosphate isomerase causes red blood cells to be destroyed prematurely (hemolytic anemia).
  • Glut-1 Deficiency Syndrome: A condition which is characterized by a deficiency of the GLUT-1 transported of cells
  • Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
  • Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
  • Hartnup Disease: A disorder of amino acid transport resulting in light sensitive dermatitis, ataxia, migraines and personality changes.
  • Head symptoms: Symptoms affecting the head or brain
  • Hearing impairment: Impaired ability to hear.
  • Hemophagocytic Lymphohistiocytosis: A condition which is characterized by an abnormal appearance of histiocytes in the blood
  • 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.
  • Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
  • Homocarnosinosis: A very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
  • Human HOXA1 Syndromes: Human HOXA1 syndromes are very rare conditions caused by genetic defects involving the HOXA1 gene. The severity of the condition is highly variable depending on the extent of the defect and inheritance pattern. The most severe form is Bosley-Salih-Alorainy syndrome which involves a homozygous mutation. Other manifestations of the genetic defect are Athabaskan Brainstem Dysgenesis syndrome and Navajo Brainstem syndrome. The gene is involved in the development of the cardiovascular system, inner ear and the hindbrain so defects tend to involve mainly these parts of the body.
  • Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
  • Hyperglycerolemia: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine.
  • Hyperlysinemia, persistent: A rare genetic disorder where the body lacks enzymes (lysine ketoglutarate reductase and saccharopine dehydrogenase) to metabolize lysine which then causes a harmful builds up of lysine in the blood and urine and saccharopins in the urine. Some patients are asymptomatic while others have severe symptoms.
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
  • Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
  • Hypoparathyroidism -- short stature -- mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • Impaired vision: Reduced or degraded vision.
  • Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Infant symptoms: Symptoms affecting babies and infants.
  • Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Insensitivity to pain with anhidrosis: A rare disorder primarily involving insensitivity to pain with a lack of sweating.
  • Intellectual impairment: The impairment of ones cognition
  • Jackson-Weiss Syndrome: A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
  • Jacobsen syndrome: 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.
  • Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
  • Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
  • Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
  • Kohlschutter-Tonz syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Laurence-Moon Syndrome: A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
  • Learning disabilities: Difficulty with learning or schooling.
  • Learning disability: A disorder that is characterized by a difficulty in learning and applying knowledge
  • Lennox-Gastaut Syndrome: A form of epilepsy that occurs mostly in preschool-aged children and is characterized mainly by absences.
  • Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
  • Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
  • Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
  • Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
  • 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.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
  • Lowry-Wood syndrome: A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs.
  • Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
  • Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
  • MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.
  • Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
  • Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
  • Martsolf syndrome: A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes).
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Megalencephalic leukoencephalopathy with subcortical cysts: A very rare syndrome characterized mainly by a progressive brain destruction that causes mental retardation and incoordination that starts early in life.
  • Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
  • Mental problems: Symptoms affecting judgement, thought or intelligence.
  • Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
  • Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
  • Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED): A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
  • 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).
  • Mohr-Tranebjaerg syndrome: A very rare syndrome characterized mainly by nerve degeneration. Deafness usually occurs early in life.
  • Molybdenum, cofactor deficiency, inherited: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite oxidase which are needed to metabolize xanthine. The metabolic abnormality causes severe xanthinuria with neurological symptoms. The condition may be an inherited or acquired (due to certain drug therapies) deficiency.
  • Mowat-Wilson syndrome: A very rare syndrome characterized mainly by mental retardation, a small head, characteristic facial appearance and various other abnormalities.
  • Mucolipidosis III: A rare metabolic disorder where deficiency of a particular enzyme leads to the buildup of mucopolysaccharides and mucolipids in the body which is harmful to the body and leads to premature death.
  • Mucolipidosis IV: A condition which is characterized by the accumulation of both glycoaminoglycans and lipids in tissues
  • Mucopolysaccharidosis III: Disorder of mucopolysaccharide metabolism in children.
  • Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
  • Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
  • Multiple Sulfatase Deficiency: A condition characterized by multiple sulfatase deficiencies
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
  • Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
  • NADH cytochrome B5 reductase deficiency: A very rare syndrome caused by a genetic anomaly resulting in an enzyme deficiency (NADH cytochrome B5 reductase).
  • NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes.
  • Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
  • Neurological symptoms: Any symptoms that are caused by neurological conditions
  • Neuropathy -- ataxia -- retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
  • Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
  • Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Norrie Disease: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
  • Norrie syndrome: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
  • Oculo-dento-digital dysplasia dominant: A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair.
  • Oculodental syndrome: A familial disorder characterized by corneal dystrophy, enlarged gums and missing teeth
  • Oculodigitoesophagoduodenal syndrome: A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
  • Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
  • Ohtahara Syndrome: A very rare syndrome characterized mainly by epilepsy that starts within a month of birth.
  • Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
  • Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
  • Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
  • Paraplegia -- brachydactyly -- cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
  • Periodic hyperlysinemia: A rare genetic disorder where the body lacks enzymes to metabolize lysine which then causes a harmful builds up of lysine and ammonia in the body.
  • Personality symptoms: Symptoms or changes to the personality.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Phenylketonuria type 2: A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood.
  • Pitt-Rogers-Danks syndrome: A rare genetic condition characterized by reduced fetal growth, mental retardation and distinctive facial features.
  • Polymicrogyria, Bilateral Frontoparietal: Polymicrogyria refers to abnormal brain development where the brain has abnormally smooth gyri (convolutions) on the surface of the brain. In the bilateral frontoparietal form, both sides of the portion of the brain called the frontoparietal region are affected.
  • Potocki-Shaffer syndrome: A very rare syndrome caused by the absence of a portion of chromosome 11p and characterized mainly by bone growths, enlarged fontanel and parietal foramina.
  • Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
  • Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
  • Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
  • Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
  • Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
  • Purine nucleoside phosphorylase (PNP) deficiency: A condition which is characterized by a deficiency of purine nucleoside phosphorylate
  • Pyruvate dehydrogenase deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress.
  • Ramon Syndrome: A rare genetic condition characterized by cherubism, enlarged gums, epilepsy, mental deficiency and excessive body hair (hypertrichosis).
  • Reading symptoms: Problems with reading ability
  • Renpenning syndrome 1: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
  • Retinopathy pigmentary -- intellectual deficit: A rare syndrome characterized by eye disease and mental retardation.
  • Rett's syndrome: Autism-like behavioral syndrome in infant girls
  • Roberts Pseudothalidomide Syndrome:
  • Rubella congenital syndrome: The transplacental infection of a fetus with rubella
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
  • SIBIDS syndrome: A rare disorder characterized mainly by sulfur-deficient brittle hair as well as osteosclerosis.
  • Sabinas brittle hair syndrome: A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.
  • Saccharopinuria: A rare metabolic disorder involving an enzyme (saccharopine dehydrogenase) deficiency which results in a harmful buildup of saccharopine.
  • Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
  • Say-Meyer syndrome: A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).
  • Schizencephaly: A very rare disorder where the brain fails to develop normally and slits or clefts form in the brain. They type and severity of symptoms is determined by the degree of abnormality.
  • School problems: Difficulty with learning or schooling as a symptom.
  • Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
  • Scott Craniodigital Syndrome: A condition which is characterized by deformities of the cranium and fingers
  • Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
  • Self-esteem symptoms: Poor self image or self-esteem.
  • Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
  • Septooptic dysplasia -- digital anomalies: A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
  • Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.
  • Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Shwachman-Diamond Syndrome:
  • Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
  • Sialuria, Finnish type: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. This condition is an adult form of sialuria.
  • Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
  • Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
  • Smith-Magenis Syndrome: A rare syndrome characterized by various developmental problems as well as various physical defects primarily affecting the head and the face.
  • 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.
  • Speech symptoms: Problems with speech or voice.
  • Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
  • Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.
  • Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
  • Subependymal nodular heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, nodules of the abnormal tissue is found in the subependymal part of the brain.
  • Succinic Semialdehyde Dehydrogenase Deficiency: A condition which is characterized by a deficiency of succinic semialdehyde dehydrogenase
  • Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
  • Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
  • Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 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.
  • Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
  • Tuberous sclerosis, type 1: A rare genetic disorder with a variety of abnormalities such as seizures, mental retardation, skin lesions and nodules in various body tissues and organs.
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • UDP-Galactose-4-epimerase deficiency: A condition which is characterised by a mutation in the UDP-galactose-4-epimerase gene.
  • Varadi Papp syndrome: A syndrome characterised by deformities of the oral-facial-digital areas
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Vocal cord dysfunction familial: A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated.
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
  • Wieacker-Wolff Syndrome:
  • Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
  • Wolf-Hirschhorn Syndrome: A syndrome which is caused by a partial deletion of the short arm of chromosome 4.
  • Worster Drought syndrome: A mild form of tetraplegic cerebral palsy
  • Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
  • Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.
  • Young Hughes syndrome: A sex linked condition that is characterised by mental retardation and hypogonadism
  • Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
  • Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

Conditions listing medical symptoms: Learning disability:

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Conditions listing medical complications: Learning disability:

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

 

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