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mirror-image polydactyly of hands & feet without other anomalies
Epidemiology:
- very rare
Genetics:
- most cases are sporadic
- rare parent-child transmissions, autosomal
- associated with translocation t(2;14)(p23.3;q13) involving MIPOL1
Clinical manifestations:
- mirror-image duplication of digits
- occasionally associated with
- dimelia of the ulna & fibula
- tibial &/or fibular hypoplasia
- nasal abnormality
- other malformations
General
genetic syndrome (multisystem disorder)
congenital anomaly (birth defect)
References
UniProt :accession Q8TD10