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stiff skin syndrome
Genetics:
- associated with defects in FBN1
Clinical manifestations:
- hard, thick skin, usually over the entire body, which limits joint mobility & causes flexion contractures
- occasional findings include lipodystrophy & muscle weakness
General
connective tissue disease; soft tissue disease
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 184900
References
OMIM :accession 184900