ORPHA:1540
Jackson-Weiss syndrome
Synonyms: Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jackson-Weiss syndrome | Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS |
| fr | Syndrome de Jackson-Weiss | JWS · Syndrome de craniosynostose-hypoplasie du milieu du visage-malformation des pieds |
| de | Jackson-Weiss-Syndrom | JWS · Kraniosynostose - Mittelgesichtshypoplasie - Fußanomalien |
| es | Síndrome de Jackson-Weiss | |
| it | Sindrome di Jackson-Weiss | Craniosinostosi - ipoplasia della parte media del viso - anomalie dei piedi · JWS |
| nl | Syndroom van Jackson-Weiss | Craniosynostose - hypoplasie van middengezicht - voetanomalieën-syndroom · JWS |
| pt | Síndrome Jackson-Weiss | Craniossinostose-hipoplasia do terço médio da face-anomalias dos pés · JWS |
| pl | Zespół Jacksona i Weissa | JWS · Kraniosynostoza - hipoplazja środkowej części twarzy - nieprawidłowości stóp |
| cs | Jacksonův-Weissův syndrom | JWS · Syndrom zahrnující kraniosynostózu, hypoplázii střední části obličeje a abnormality chodidla · Jackson-Weissův syndrom |
| uk | Синдром Джексона-Вейсса | Синдром краніосиностозу - гіпоплазії середнього відділу обличчя - аномалії стоп · JWS |
| zh | Jackson-Weiss综合征 | 颅缝早闭-面中部发育不良-足畸形综合征 |
| tr | Jackson-Weiss sendromu | JWS · Kraniyosinostoz-orta fasiyal hipoplazisi-ayak anormallikleri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123150 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | attributed | validated |
| MONDO | 0007400 | E | validated | |
| MeSH | C537559 | E | validated | |
| UMLS | C0795998 | E | validated | |
| GARD | 6796 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID]_21438135[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010059 | Broad hallux phalanx | |
| HP:0001783 | Broad metatarsal | |
| HP:0000316 | Hypertelorism | |
| HP:0011800 | Midface retrusion | |
| HP:0010743 | Short metatarsal | |
| HP:0001770 | Toe syndactyly | |
| HP:0000262 | Turricephaly | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0002991 | Abnormal fibula morphology | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0001839 | Split foot | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1540
- This record as JSON: /data/d/1540.json