triphalangeal thumbs-brachyectrodactyly syndrome
MONDO:0008607Mondo
Findings
No curated finding names triphalangeal thumbs-brachyectrodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008607), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: triphalangeal thumbs-brachyectrodactyly syndrome
- Also called
- Carnevale-Hernández-del Castillo syndrome