Jackson-Weiss syndrome
Findings
No curated finding names Jackson-Weiss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007400), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad first metatarsalHPOHP:0010068
- 5 of 6 reported patients
- Broad hallux phalanxHPOHP:0010059
- Very frequent (80% to 99% of cases)
- Broad metatarsalHPOHP:0001783
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 1 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Short metatarsalHPOHP:0010743
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- TurricephalyHPOHP:0000262
- Very frequent (80% to 99% of cases)
- Broad distal phalanx of the halluxHPOHP:0010077
- 4 of 6 reported patients
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
Show the remaining 17
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Underdeveloped supraorbital ridgesHPOHP:0009891
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
2 names
Resolves to: Jackson-Weiss syndrome
- Also called
- craniosynostosis-midfacial hypoplasia-foot abnormalities syndromeJWS