Jackson-Weiss syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
JWS
Craniosynostosis - midfacial hypoplasia - foot abnormalities
Number of Symptoms 31
OrphanetNr: 1540
OMIM Id: 123150
ICD-10: Q87.8
UMLs: C0795998
MeSH: C537559
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
3
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
4
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
8
 (HPO:0000272) Malar flattening 277 / 7739
9
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
10
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
11
 (HPO:0009891) Underdeveloped supraorbital ridges Frequent [Orphanet] 36 / 7739
12
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
13
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
14
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
15
 (HPO:0001841) Preaxial foot polydactyly Occasional [Orphanet] 24 / 7739
16
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
17
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
18
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
19
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
20
 (HPO:0010760) Absent toe Occasional [Orphanet] 15 / 7739
21
 (HPO:0008080) Hallux varus 3 / 7739
22
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
23
 (HPO:0009700) Finger symphalangism Occasional [Orphanet] 55 / 7739
24
 (HPO:0008122) Calcaneonavicular fusion 1 / 7739
25
 (HPO:0010055) Broad hallux Very frequent [Orphanet] 56 / 7739
26
 (HPO:0001783) Broad metatarsal 9 / 7739
27
 (HPO:0010743) Short metatarsal 56 / 7739
28
 (OMIM) Medially deviated, broad great toes 1 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (OMIM) Tarsonavicular and calcaneonavicular fusion 1 / 7739
31
 (OMIM) Short, broad metatarsal 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jackson et al. (1976) reported a syndrome of craniosynostosis, midfacial hypoplasia, and foot anomalies in an Amish kindred. Enlarged great toes and craniofacial abnormalities suggested Pfeiffer syndrome (101600); however, thumb abnormalities were not present. In all, 88 affected ...
Molecular genetics OMIM In a study of the family in which the Jackson-Weiss syndrome was originally described, Jabs et al. (1994) discovered an ala344-to-gly (A344G; 176943.0007) mutation in the conserved region of the immunoglobulin IIIc domain of the gene for fibroblast ...