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Triphalangeal thumbs - brachyectrodactyly

Orpha number	ORPHA2947
Synonym(s)	Carnevale-Hernández-del Castillo syndrome
Prevalence	<1 / 1 000 000
Inheritance	Autosomal dominant
Age of onset	Neonatal/infancy

ICD-10	Q74.8
OMIM	190680
UMLS	C1860804
MeSH	C536564
MedDRA	-
SNOMED CT	-

Summary

This 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.

Last update: September 2006

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