" /> Acromesomelic dysplasia 2a - CISMeF





Preferred Label : Acromesomelic dysplasia 2a;

Symbol : AMD2A;

CISMeF acronym : AMDG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Grebe chondrodysplasia; Acromesomelic dysplasia, grebe type; Achondrogenesis, type II; Achondrogenesis, brazilian; Grebe dysplasia; AMDG; Chondrodysplasia, grebe type;

Description : Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0003);

Prefixed ID : #200700;

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27/07/2025


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