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.

Medical dictionary. 2011.

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