Topics: Conditions and Diseases : Genetic Disorders
Please see also specific disorder or condition in the alphabetical listings.
Aarskog Syndrome
An inherited disease characterized by short stature , facial abnormalities, and genital abnormalities.
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Aase Syndrome
Aase syndrome is a rare genetic disorder that may be detected during early infancy.
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Ablepharon-Macrostomia Syndrome
Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia.
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Alagille Syndrome
Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal.
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Alfi's Syndrome
Monosomy 9P, otherwise known as Alfi's Syndrome or 9P-, is a rare chromosome anomaly affecting about one birth in five million.
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Alpha-1 Antitrypsin Deficiency
Alpha-1 results in low levels or a lack of an essential blood protein that protects tissues in the lungs from being destroyed by enzymes released from the body's own white blood cells.
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Batten Disease
Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs).
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Beckwith-Wiedemann Syndrome
Features include: macroglossia, a large tongue which may cause breathing, feeding or speech difficulties; umbilical hernia or exomphalos; overgrowth, children are bigger than their contemporaries; hemihypertrophy, one side of the body grows more than the other; hypoglycaemia, low blood sugar as babies; characteristic facial appearance and indentations of the ears.
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Bloom Syndrome
Bloom's syndrome is inherited as an autosomal recessive disease, typically manifesting itself as: unusually small size at birth but otherwise a normal degree of maturation; shortness of stature after birth, only rarely reaching five feet; redness of the skin of the face, mainly the bridge of the nose and the adjoining upper cheek areas, the lower eyelids, and the lower lip; and increased numbers of respiratory tract and ear infections, some of which are life-threatening.
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Branchio-Oto-Renal Syndrome
The common phenotypic features of Branchio-Oto-Renal Syndrome are hearing loss (incidence 93%), preauricular pits or tags (82%), renal anomalies (67%), branchial fistulae (49%), pinnae deformity (36%) and external auditory canal stenosis (29%).
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Coffin Lowry Syndrome
A rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia.
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Cohen Syndrome
Cohen syndrome is an extremely variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet and mental retardation.
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Costello Syndrome
Costello Syndrome is an extremely rare disorder characterized by growth delay after birth (postnatal), leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance.
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Cowden Syndrome
Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al.
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Craniofrontonasal Dysplasia
Craniofrontonasal Dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones.
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Crigler-Najjar Syndrome
An inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide.
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Currarino Syndrome
Currarino syndrome is a condition characterized by the combination of partial absence of the sacrum; anal and rectal abnormalities; and an abnormal mass in front of the sacrum due to a meningocoele or teratoma.
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Cystic Fibrosis
Cystic Fibrosis is an inherited disease of the exocrine glands, affecting the pancreas, respiratory system, and sweat glands.
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Down Syndrome
History of Down Syndrome Langdon Down In 1866, a physician named John Langdon Down first described a set of children with common features who were distinct from other children with developmental delays.
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Dubowitz Syndrome
A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies.
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Ectodermal Dysplasia
Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions.
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Epidermolysis Bullosa
Epidermolysis Bullosa is a genetic disorder characterized by a fragility of the epidermis or skin, causing blistering, scarring, and sometimes death.
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Familial Hypercholesterolemia
A dominantly inherited condition that results in elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resultant myocardial infarctions (heart attacks) at an early age.
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Fatty Oxidation
Fatty acids are one of the body's fuels: oxidation is the process by which they are broken down to release energy.
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Floating-Harbor Syndrome
A very rare disorder characterized by short stature, delayed language skills, and a triangular shaped face.
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Gilbert's Syndrome
Gilbert's Syndrome is a form of congenital hyperbilirubinemia, which is a condition where bilirubin is not properly processed by the liver.
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Glutaricaciduria
Glutaricaciduria is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase.
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Hailey-Hailey Disease
Rare hereditary skin condition, also known as Familial Benign Chronic Pemphigus.
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Hemihypertrophy
A rare condition in which one side of the body seems to grow faster than the other.
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Hemochromatosis
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Hereditary Angioedema
Hereditary angioedema (HAE) is an autosomal dominant disorder manifested by painless, nonpruritic swelling of the skin.
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Hereditary Spastic Paraplegia
Refers to a group of genetic disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs.
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Hydrolethalus Syndrome
Hydrolethalus syndrome is a severe complex malformation syndrome, which leads to death of the fetus in most cases in utero, or immediately after the birth.
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Incontinentia Pigmenti
A rare, genetic disorder characterized by unusual patterns of discolored skin.
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Joubert Syndrome
A rare, genetic disorder that affects the area of the brain that controls balance and coordination.
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Laurence-Moon Syndrome
Laurence-Moon Syndrome is a rare inherited disorder characterized by diminished hormone production by the testes or ovaries (hypogonadism), progressive loss of vision (retinitis pigmentosa), mental retardation, and paralysis of the legs and lower part of the body accompanied by involuntary muscle contractions (spastic paraplegia).
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Lesch-Nyhan Syndrome
A rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT.
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Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).
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Lowe Syndrome
Also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males.
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Machado-Joseph
A fatal genetic disorder of the nervous system that cripples and paralyzes while leaving the intellect intact.
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Mannosidosis
Mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration.
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McArdle's
A neuromuscular condition, it causes victims to experience fatigue and pain after only minimal exercise.
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MEB Disease
Muscle-eye-brain disease is an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities.
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Meckel-Gruber Syndrome
An autosomal recessive disorder with an increased incidence in the Jewish population that is invariably fatal at birth due to renal failure and pulmonary hypoplasia.
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Mulibrey Nanism
Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene.
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Nail Patella Syndrome
A rare genetic disorder involving nail and skeletal deformities (among a host of other related anomalies) that occurs in approximately 2.2 out of every 100,000 people.
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Nasu-Hakola Disease
PLOSL is an adult-onset recessively inherited disorder of bones and central nervous system leading to early dementia and death.
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Noonan Syndrome
A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome.
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Opitz Syndrome
Opitz Syndrome is a genetic disorder that may be evident at birth.
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Pallister-Hall Syndrome
A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases.
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Pallister Killian Mosaic Syndrome
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate.
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Popliteal Pterygium Syndrome
Popliteal Pterygium Syndrome is an extremely rare inherited disorder that is apparent at birth (congenital).
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Propionic Acidemia
A disorder of branch-chain amino acid metabolism characterized by the build-up of propionic acid resulting in episodes of vomiting, dehydration, and severe metabolic acidosis.
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Proteus Syndrome
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, epidermal nevi, macrocephaly, cranial hyperostoses, and long-bone overgrowth.
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Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum, PXE, is an inherited disorder that affects selected connective tissue in some parts of the body.
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RAPADILINO Syndrome
RAPADILINO is a rare autosomally recessively inherited malformation syndrome. The acronym introduces the main clinical features: RAdial hypo-/aplasia, PAtellae hypo-/aplasia and cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size and LImb malformation, NOse slender and NOrmal intelligence.
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Robinow Syndrome
The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.
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Russell Silver Syndrome
Russell-Silver Syndrome is a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities.
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Sanfilippo Syndrome
Sanfilippo Syndrome (MPS III), an autosomal recessive hereditary disorder, is characterized by severe mental deterioration, mild physical defects and the excretion of heparan sulfate in the urine.
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Schizencephaly
Schizencephaly is an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brain's cerebral hemispheres.
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Shwachman Syndrome
Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities).
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Sirenomelia
A very rare congenital disorder in which the legs are fused together, giving the appearance of a mermaid.
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Smith-Magenis Syndrome
Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities.
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Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature.
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Soto's Syndrome
A rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life.
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Sturge-Weber Syndrome
Sturge-Weber Syndrome is composed of three major symptoms. Excessive blood vessel growths (leptomeningeal angiomas) are accompanied by accumulations of calcium inside the brain, and seizures.
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Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder that is apparent at birth (congenital).
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Trichothiodystrophy
Trichothiodystrophy (TTD) is a rare genetic disorder that involves the production of abnormal brittle hair, Icthyosis, physical and developmental disorders.
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Turner Syndrome
Turner Syndrome is a chromosomal disorder, which effects only females, where one X chromosome is missing.
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Urea Cycle
Tragic illnesses that are characterized by excessive amounts of ammonia in the blood. Without treatment, these disorders can cause behavioral disorders, mental retardation, coma, or even death.
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Usher Syndrome
Usher syndrome is a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision.
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Velo-Cardio-Facial Syndrome
VCFS -- also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 -- is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans.
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Waardenburg Syndrome
The Waardenburg syndrome (WS) gene affects the body in three primary ways: hearing , pigmentation (coloring) of the skin, hair and eyes, and facial structure.
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Weaver Syndrome
Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average.
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Williams Syndrome
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Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4.
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Zellweger Syndrome
Zellweger Syndrome is a rare hereditary disorder affecting infants. It is characterized by reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain.
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