brachydactyly type A2

A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene

A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.

Signs and symptoms

• Short hallux
• Short middle phalanx of the 5th finger
• 2-3 toe syndactyly
• Triangular shaped middle phalanx of the 5th finger
• Aplasia/Hypoplasia of the middle phalanx of the 5th finger
• Medially deviated second toe
• Type A2 brachydactyly
• Broad hallux
• Triangular shaped middle phalanx of the 2nd finger
• Ulnar deviation of the 2nd finger

Also known as: BDA2; Mohr-Wriedt type brachydactyly; brachymesophalangy II