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Brachydactyly-syndactyly, Zhao type

Orpha number ORPHA93409
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q73.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

This syndrome has been described in two families.

It is caused by HOXD13 mutations in 2q31-q32

Brachydactyly-syndactyly, Zhao type is inherited as an autosomal dominant trait.


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Detailed information

Review article
  • EN (2012,pdf)
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