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Beare-Stevenson cutis gyrata syndrome (BSCGS)
Genetics:
- autosomal dominant
- associated with defects in FGFR2
Clinical manifestations:
- furrowed skin disorder of
a) cutis gyrata
b) acanthosis nigricans
- craniosynostosis
- craniofacial dysmorphism
- digital anomalies
- umbilical & anogenital abnormalities
- early death
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 123790
References
OMIM :accession 123790