acromesomelic dysplasia, Grebe type

An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.

Signs and symptoms

• Acromesomelia
• Postaxial hand polydactyly
• Fibular hypoplasia
• Short foot
• Flexion contracture
• Short femur
• Distal tibiofibular synostosis
• Short humerus
• Disproportionate short-limb short stature
• Aplasia/Hypoplasia of the patella

Also known as: acromesomelic dysplasia-2A; grebe chondrodysplasia