The Allan-Herndon-Dudley syndrome is characterized by mental retardation (XL-MR) and neuromuscular involvement with muscle hypoplasia and hypotension.
Acute radiation syndrome is triggered by acute, short-term irradiation with, for example, X-rays or gamma rays. It occurs rarely and mostly after industrial accidents, such as reactor disasters.
Acute lymphoblastic leukemia (ALL) is characterized by the proliferation and accumulation of malignant degenerate, immature cells of hematopoiesis, so-called blasts in bone marrow and blood.
Acute demyelinating inflammatory polyradiculoneuropathy (AIDP) is the most common form of Guillain-Barre syndrome.
Actinomycosis is a bacterial infection with actinomycetes, which leads to abscess formation with pus accumulations, which are surrounded by connective and granulation tissue and spread to the surrounding tissue.
Acrocephalosyndactyly describes a group of polymorphic syndromes with acrocephaly and at least one syndactyly.
Acromegaly is a commonly acquired hormonal disorder based on pathological overproduction of growth hormone.
Acrocallosal Syndrome (ACS) is characterized by multiple malformations, including coronary agenesis (CC), distal limb malformations, craniofacial anomalies, and intellectual deficits.
Acrogeria is a congenital disorder whose leading symptoms are predominantly dermal.
Acrodysostosis is a rare form of peripheral dysostosis, which describes a shortening of the long bones in the hands and feet, as well as cone-shaped epiphyses.
Die Adrenomyodystrophie bezeichnet eine erbliche Erkrankung, welche durch kongenitaler Muskeldystrophie, Störung der Nebennierenrinde, Leber und Hornhaut, des Nervensystems, des Magen- Darm-Traktes und der Harnblase gekennzeichnet ist.
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of the SCID disease group.
Addison disease is a chronic endocrine disorder caused by autoimmune destruction of the adrenal cortex.
Familial, isolated glucocorticoid deficiency (ACTH resistance) is adrenal insufficiency with no shortage of mineralocorticosteroids.
Acrodermatitis enteropathica is a hereditary zinc deficiency syndrome. The cause of autosomal recessive skin rashes is a partial reduction of intestinal uptake of zinc.
Apert syndrome is characterized by craniofacial bodily deformities due to a mutation of the FGFR2 gene.
Aconitase deficiency is defined as a severe myopathy with stress intolerance and deficiency of muscle succinate dehydrogenase. The cause of the syndrome is a mutation of the ISCU gene for the iron-sulfur cluster scaffold protein.
Achondroplasia is the most common form of genetically determined short stature.
Achondrogenesis is a skeletal dysplasia with no endochondral ossification.
Achromatopsia (ACHM) is a rare color disorder in which the patient cannot perceive colors, but only contrasts (light-dark).