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Genetic & Metabolic

Porphyria

79 Members
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the s...

Prader-Willi Syndrome

33 Members
Prader-Willi Syndrome (PWS) is a genetic disorder in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion). PWS is characterized by hyperphagia and food preocc...

Primary Carnitine Deficiency

24 Members
Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats...

Progeria

2 Members
Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called "accelerated aging" diseases. The word progeria is derived from the Greek for "prematurely...

Rett Syndrome

49 Members
Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder. The symptoms of this disorder are easily confused with those of cerebral palsy. The clinical diagnosis specifies a small head and small hands a...

Rubinstein-Taybi Syndrome

4 Members
Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. Other featur...

Saethre-Chotzen Syndrome

6 Members
Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the ...

Shwachman-Diamond syndrome (SDS)

6 Members
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second mo...

Smith-Magenis Syndrome (SMS)

26 Members
Smith-Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and b...

Stickler Syndrome

33 Members
Stickler Syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965.[1] Stickler sy...

TAR Syndrome

39 Members
TAR Syndrome (Thrombocytopenia and Absent Radius) is a rare genetic disorder which is characterised by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. Platelets are the clotting agent in b...

Tay-Sachs Disease

9 Members
Tay-Sachs disease (also known as GM2 variant B) and its variant forms are caused by a deficiency in the enzyme beta-hexosaminidase A. The incidence is particularly high among Eastern European and Ashkenazi Jewish populations, as w...

Treacher Collins Syndrome

5 Members
Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in every 10...

Trisomy 13 (Patau Syndrome)

22 Members
Patau syndrome, also known as trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13 due to a non disjunction of chromosomes during meiosis. Like all non disjunction diseases (Down Sy...

Trisomy 18 (Edwards Syndrome)

79 Members
Trisomy 18 or Edwards Syndrome (named after John H. Edwards who first described the syndrome in 1960) is a genetic disorder. It is the second most common trisomy after Down Syndrome. It is caused by the presence of three instead...

Tuberous Sclerosis (TSC)

36 Members
Tuberous sclerosis (meaning "hard swellings") is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called facial angiofibroma or adenoma sebaceum). This "classic" Vogt tr...

Turner Syndrome

409 Members
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births[1]. Instead of the normal XX sex chromosomes for a female, only one X chro...

Tyrosinemia

16 Members
Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. Tyrosinemia is inherited in an autosomal...

Velocardio-facial syndrome

15 Members
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000. ...

von Hippel-Lindau Disease (VHL)

20 Members
Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. Features of VHL are: angiomatosis - little knots...

Waardenburg Syndrome (WS)

10 Members
Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenbu...

Williams Syndrome

135 Members
Williams syndrome (also Williams-Beuren syndrome, sometimes called Pixieism) is a rare genetic disorder, occurring in fewer than 1 in every 20,000 live births. It is characterized by a distinctive, "elfin" facial appearance, an...

Wilson's Disease

36 Members
Wilson's disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world. However it is much more common in Central America, especially in El...

Zellweger Syndrome

11 Members
Zellweger syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. ...

Showing 51 - 74 of 74 Results
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