triphalangeal thumbs-brachyectrodactyly syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome is characterized 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.
MONDO:0019054
congenital limb malformation
is_a
Carnevale-Hernández-del Castillo syndrome
exact
triphalangeal thumb and brachy-ectrodactyly syndrome
related
triphalangeal thumb and brachyectrodactyly syndrome
related
triphalangeal thumbs brachyectrodactyly
related