acromesomelic chondrodysplasia Grebe type

Genetics

• autosomal recessive
• associated with defects in GDF5

Clinical manifestations

• see acromesomelic chondrodysplasia
• normal axial skeletons & missing or fused skeletal elements within the hands & feet

More general terms

• acromesomelic chondrodysplasia

Database

• OMIM: https://mirror.omim.org/entry/200700