acheiropody

An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.

Signs and symptoms

• Absent forearm
• Peromelia
• Aplasia of the ulna
• Fibular aplasia
• Carpal bone aplasia
• Short humerus
• Aplasia of the tarsal bones
• Aplasia of metacarpal bones
• Absent hand
• Absent metatarsal bone

Also known as: Acheiropodia; Horn-Kolb Syndrome