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Shprintzen-Goldberg craniosynostosis syndrome
Epidemiology:
- rare
Genetics:
- associated with defects in FBN1
Clinical manifestations:
- Marfanoid habitus
- craniosynostosis
- characteristic dysmorphic facial features
- skeletal & cardiovascular abnormalities
- mental retardation
- developmental delay
- learning disabilities
General
craniosynostosis
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 182212
References
OMIM :accession 182212