Conditions / Musculoskeletal

brachydactyly type B1

info · Musculoskeletal

A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.

Signs and symptoms

  • Aplasia/Hypoplasia of the distal phalanges of the hand
  • Short long bone
  • Micropenis
  • Type B brachydactyly
  • Wide anterior fontanel
  • Delayed cranial suture closure
  • Hypoplastic sacrum
  • Broad thumb
  • Camptodactyly
  • Ventricular septal defect

Also known as: BDB1