acromesomelic dysplasia

acromesomelic dysplasia
a genetically heterogenous, autosomal recessive condition characterized by shortening of the distal (hands and feet) and middle (forearms and legs) portions of the limbs.

Medical dictionary. 2011.

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  • Hunter-Thompson acromesomelic dysplasia — Hun·ter Thomp·son acromesomelic dysplasia (hunґtər tompґsən) [Alasdair G. W. Hunter, Canadian pediatrician and geneticist, 20th century; Margaret W. Thompson, Canadian geneticist, born 1920] see under dysplasia …   Medical dictionary

  • Maroteaux acromesomelic dysplasia — Ma·ro·teaux acromesomelic dysplasia (mah ro toґ) [Pierre Maroteaux, French physician, born 1926] see under dysplasia …   Medical dictionary

  • List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… …   Wikipedia

  • NPR2 — Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) Identifiers Symbols NPR2; AMDM; ANPRB; ANPb; GUC2B; GUCY2B; NPRB; NPRBi External IDs …   Wikipedia

  • Grebe chondrodysplasia — a severe form of acromesomelic dysplasia, caused by mutations in the GDF5 gene (locus: 20q11.2), which encodes a growth factor of the TGF β superfamily, characterized by profound shortening of the forearms, legs, and digits and severe… …   Medical dictionary

  • GDF5 — Growth differentiation factor 5 (cartilage derived morphogenetic protein 1), also known as GDF5, is a human gene.cite web | title = Entrez Gene: GDF5 growth differentiation factor 5 (cartilage derived morphogenetic protein 1)| url =… …   Wikipedia

  • Dwarfism — Abnormally short stature, which may be due to a variety of causes. Some forms are hereditary. See also {{}}achondroplasia; dwarfism, pituitary. * * * A condition or a group of conditions in which the standing height of the person is below the 3rd …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Female infertility — Classification and external resources ICD 10 N97.0 ICD 9 628 …   Wikipedia

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