brachydactyly-syndactyly syndrome

Genetics

• associated with defects in HOXD13

Clinical manifestations

• most of affected individuals exhibit
  • generalized shortening of the hands & feet
  • broad & short distal phalanges of the thumbs
  • cutaneous syndactyly of toes 2 & 3
• limb phenotypes overlap those of brachydactyly types A4, D, E & syndactyly type 1

More general terms

• brachydactyly (microdactyly)
• syndactyly
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/610713