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Jackson-Weiss syndrome
Genetics:
- autosomal dominant
- associated with mutations in FGFR2 gene
Clinical manifestations:
- variable severity
- craniosynostosis
- midfacial hypoplasia
- foot anomalies
- broad great toes
- medial deviation & tarsal-metatarsal coalescence
General
developmental bone disorder
genetic disease of bone/skeletal system
Database Correlations
OMIM correlations
MORBIDMAP 176943