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Brachydactyly-syndactyly, Zhao type
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.
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q73.8
- OMIM: 610713
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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.
- Review article
- English (2012)