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Guttmacher syndrome
Genetics:
- autosomal dominant
- associated with defects in HOXA13
Clinical manifestations:
- combination of distal limb & genital tract abnormalities
- several features in common with hand-foot-genital syndrome, including: hypoplastic first digits & hypospadias
- features not seen in hand-foot-genital syndrome include:
a) postaxial polydactyly of the hands
b) uniphalangeal second toes with absent nails
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 176305
References
OMIM :accession 176305