Triphalangeal thumbs - brachyectrodactyly

From BugSigDB


Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
Aliases
  • Carnevale-Hernández-del Castillo syndrome
  • triphalangeal thumb and brachy-ectrodactyly syndrome
  • triphalangeal thumb and brachyectrodactyly syndrome
  • triphalangeal thumbs brachyectrodactyly
  • triphalangeal thumbs with brachyectrodactyly
  • triphalangeal thumbs-brachyectrodactyly syndrome