brachydactyly type C

A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11

A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Signs and symptoms

• Short 3rd finger
• Cone-shaped epiphyses of the middle phalanges of the hand
• Pseudoepiphysis of the 2nd finger
• Short 2nd finger
• Pseudoepiphyses of the 3rd finger
• Short middle phalanx of the 5th finger
• Ulnar deviation of the 2nd finger
• Short middle phalanx of the 2nd finger
• Triangular epiphysis of the proximal phalanx of the 2nd finger
• Short middle phalanx of the 3rd finger

Also known as: BDC