Jackson-Weiss syndrome

Definition

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

Also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, Jackson-Weiss syndrome, JWS — per MONDO

Also identified as

• DOID 0111337 per MONDO
• ICD9 759.89 per MONDO
• MESH C537559 per MONDO
• NCIT C123814 per MONDO
• OMIM 123150 per MONDO
• Orphanet 1540 per MONDO
• SCTID 709105005 per MONDO
• UMLS C0795998 per MONDO