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Genetic & Metabolic

Achondroplasia (Dwarfism)

151 Members
Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres). The disorder is a result of an au...

Achromatopsia

13 Members
Achromatopsia is a medical condition (also called maskun or rod monochromatism) characterized by a low cone cell count or lack of function in cone cells; these are the light receptors responsible for color perception. It is endemi...

Alpha-1 Antitrypsin Deficiency

109 Members
Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. It can lead to emphysema and, in some cases, to liver disease. Symptoms of alpha-1 antitrypsin...

Androgen Insensitivity Syndrome

13 Members
Androgen insensitivity syndrome (AIS, or "Androgen resistance syndrome") is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. It has also been called androgen resi...

Apert Syndrome

9 Members
Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. Specifically, this syndrome affects the first b...

Asperger Syndrome

3157 Members
  • Asperger syndrome - also referred to as Asperger's syndrome, Asperger's, Aspergers or just AS - is one of five neurobiological pervasive developmental disorders (PDD), and is characterized by deficiencies in so...

Ataxia Telangiectasia

20 Members
  • Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births. Telangiectasias are sma...

Autism / Autism Spectrum

3462 Members
  • Autism is classified as a neurodevelopmental disorder which manifests itself in markedly abnormal social interaction, communication ability, patterns of interests, and patterns of behavior. Although the specific et...

Batten Disease

16 Members
Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physician...

CADASIL

52 Members
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome...

Charcot-Marie-Tooth Disease

240 Members
Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue an...

CHARGE Syndrome

23 Members
CHARGE syndrome refers to a specific set of birth defects in children. CHARGE is an acronym for some of the most seen features in this syndrome. CHARGE syndrome is sometimes referred to as an association. This indicates a non-r...

Citrullinemia

2 Members
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations i...

Craniosynostosis & Plagiocephaly

54 Members
  • Craniosynostosis is a medical condition in which some or all of the sutures in the skull of an infant close too early, causing problems with normal brain and skull growth. It can result in craniostenosis, which is ...

Cri Du Chat Syndrome

17 Members
Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20...

Crouzon Syndrome

13 Members
Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchi...

Cystic Fibrosis

704 Members
  • Cystic fibrosis, (CF) is a common hereditary human disease which affects many different parts of the body, including the lungs, pancreas, gastrointestinal tract, reproductive organs, and sinuses. Individuals with cys...

Cystinosis

7 Members
Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. The body accumulates...

Dercum's Disease

60 Members
Adiposis dolorosa, also known as Dorcum's disease, is a rare disease characterized by multiple painful lipomas that arise in adult life. It occurs most often in obese postmenopausal women, but can also occur in men. The fatty tumo...

Down Syndrome

526 Members
Down syndrome or trisomy 21 is a genetic condition resulting from the presence of all or part of an extra 21st chromosome. Down syndrome is characterized by a combination of major and minor abnormalities of body structure and func...

Ectodermal Dysplasia

28 Members
Ectodermal dysplasia is not a single disorder, but a group of closely related conditions. More than 150 different syndromes have been identified. Ectodermal Dysplasias are described as "heritable conditions in which there are a...

Fatty Acid Oxidation Disorders

10 Members
Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism th...

Fibrodysplasia Ossificans Progressiva

11 Members
Fibrodysplasia ossificans progressiva (FOP), is a rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified (turned to bone) when...

Fragile X Syndrome

124 Members
Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that sit...

Fructose Intolerance

124 Members
  • Fructose intolerance (Dietary Fructose Intolerance, or DFI) is a hereditary condition due to a deficiency of liver enzymes that metabolise fructose. The deficient enzyme is Fructose-1-phosphate aldolase, this means t...

Galactosemia

30 Members
  • Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose a...

Glycogen storage diseases

6 Members
Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, ...

Goldenhar Syndrome

32 Members
  • Discovered in 1952 by Maurice Goldenhar, Goldenhar Syndrome is a birth defect causing facial deformities. It usually is genetic and occurs only on one side of the face, and sometimes can cause other problems su...

Gout

419 Members
  • Gout is a form of arthritis caused by the accumulation of uric acid crystals in joints. It is an intensely painful disease, which in most cases affects only one joint (monoarthritis), most commonly the big toe. The...

Hartnup Disease

2 Members
Hartnup disease, or Hartnup's disease, or Hartnup disorder, is a genetic metabolic disorder in the absorption of the amino acid tryptophan that leads to the insufficent production of nicotinamide. Nicotinamide is necessary for ...

Hemophilia

140 Members
  • Hemophilia or haemophilia is the name of any of several hereditary genetic illnesses that impair the body's ability to control bleeding. Genetic deficiencies (or, very rarely, an autoimmune disorder) cause ...

Homocystinuria

15 Members
Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessive trait, which means the child is to inherit the d...

Huntington's Disease

189 Members
Huntington's disease (HD), formerly known as Huntington's chorea, is a rare inherited genetic disorder characterized by abnormal body movements called chorea, and a reduction of various mental abilities. It takes its name from the...

Hyperammonemia

10 Members
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death. It may be primary or secondary. Ammonia is a substance that co...

Hypoglycemia (low blood sugar)

710 Members
  • Hypoglycemia (hypoglycaemia in the UK) is a medical term referring to a pathologic state produced by a lower than normal amount of sugar (glucose) in the blood. The term hypoglycemia literally means "low blood suga...

Klinefelter's Syndrome

142 Members
Klinefelter's syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one, and is associated with additional risk for some medical conditions. ...

Klippel-Trenaunay-Weber Syndrome

57 Members
Klippel Trenaunay Weber syndrome or KTWS is a medical condition in which blood vessels fail to form properly. Although the cause and processes surrounding Klippel Trenaunay Weber syndrome are poorly understood, the disease is diag...

Langer-Giedion Syndrome

6 Members
Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at ...

Leukodystrophies

16 Members
Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends i...

Lipid storage disorders

12 Members
  • Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts lipids (fats) accumulate in some of the body's cells and tissues. People with these disorders either do not p...

Maple Syrup Urine Disease

8 Members
Maple syrup urine disease (MSUD) is an inherited metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine...

Marfan Syndrome

129 Members
Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures — including the lungs, eyes, heart and blood vessels — in less obvious ways. It is named for A...

Mitochondrial Diseases

189 Members
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that comprise higher-order lifeforms (including humans). The mitochondria convert the ...

Moebius Syndrome

17 Members
Mobius syndrome (also spelled Moebius) is an extremely rare neurological disorder. Mobius syndrome is caused by abnormal development of the cranial nerves. This rare disorder has a number of causes. Most often affected are the ...

Mucopolysaccharidosis

13 Members
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called Glycosaminoglycans - long chains of sugar carbohydrates in ea...

Muscular Dystrophies

157 Members
  • The muscular dystrophies are a group of genetic and hereditary muscle diseases; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In so...

Nail Patella Syndrome

11 Members
Nail Patella Syndrome (also called Fong's Disease, Hereditary Onycho-Osteodysplasia ['HOOD'] is characterized by several typical abnormalities of the arms and legs as well as kidney disease and glaucoma. It has been recognized as ...

Neurofibromatosis

761 Members
Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a.k.a. MISME syndrome), tuberous sclerosis, ...

Osteogenesis Imperfecta

69 Members
Osteogenesis imperfecta is a group of genetic bone disorders. It is one of the brittle bone diseases. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein i...

Phenylketonuria (PKU)

61 Members
  • Phenylketonuria [PKU] is a human genetic disorder (though it is possible to exist in mice), in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left ...

Showing 1 - 50 of 74 Results
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