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Genetic & Metabolic
Achondroplasia (Dwarfism) | 147 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 | 12 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 | 92 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 | 2989 Members |
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Ataxia Telangiectasia | 19 Members |
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Autism / Autism Spectrum | 3326 Members |
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Batten Disease | 15 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 | 50 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 | 219 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 | 22 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 | 51 Members |
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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 | 681 Members |
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Cystinosis | 6 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 | 55 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 | 510 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 | 26 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 | 118 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 | 113 Members |
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Galactosemia | 29 Members |
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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 | 31 Members |
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Gout | 391 Members |
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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 | 132 Members |
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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 | 166 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) | 674 Members |
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Klinefelter's Syndrome | 131 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 | 55 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 | 15 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 | 11 Members |
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Maple Syrup Urine Disease | 7 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 | 125 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 | 178 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 | 16 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 | 12 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 | 144 Members |
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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 | 738 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 | 64 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) | 57 Members |
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