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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 Infancy
Neonatal
ICD-10
  • Q74.8
ICD-O -
OMIM
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.


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