Grebe chondrodysplasia

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 abnormalities of the hands and feet. Inheritance is autosomal recessive. It is allelic with but more severe than Hunter-Thompson acromesomelic dysplasia.

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Grebe chondrodysplasia — Gre·be chondrodysplasia (graґbə) [Hans Grebe,, German internist and geneticist, 1913â€“1999] see under chondrodysplasia … Medical dictionary
Hunter-Thompson type — a condition caused by mutations in the GDF5 gene (locus: 20q11.2), which encodes a growth factor of the TGF β superfamily, characterized by mildly shortened forearms and legs, extremely short metacarpals, absence of finger phalanges, and… … 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
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