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Triphalangeal thumbs-brachyectrodactyly syndrome
rareTriphalangeal 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.
- Identifiers
- MONDO:0008607 OMIM:190680Orphanet:2947
- Part of
- Congenital limb malformation
- Also known as
- Carnevale-Hernández-del Castillo syndrome · triphalangeal thumb and brachy-ectrodactyly syndrome · triphalangeal thumb and brachyectrodactyly syndrome · triphalangeal thumbs brachyectrodactyly
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