Jackson-Weiss syndrome
| Disorder | |
|---|---|
| OMIM #: | #123150 (Click to access OMIM database) |
| Disorder: | Jackson-Weiss syndrome |
| Also known as: | JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES |
| Clinical | |
| Phenotype: | variable expression, craniosynostosis, hypertelorism, proptosis, midface hypoplasia, acrocephaly, maxillary hypoplasia, broad and medially deviated great toe, partial cutaneous syndactyly of second and third toes, broad and short metatarsals, broad toe, metatarsal hypoplasia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | FGFR2 |
| Base Change: | C>G, at nucleotide 1031 |
| Amino Acid Change: | ala 344 --> gly |
| Last updated: | 2022-11-05 |
| References |
|---|
| Azoury SC, Reddy S, Shukla V, Deng CX. (2017) Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci Nov 2;13(12):1479-1488. PubMed ID: 29230096 |
| Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, and Cunningham M. (2001) Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. Am. J. Med. Genet. 100(4): 315-324. PubMed ID: 11343323 |
| Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, and Jaye M. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics 8(3): 275-279. PubMed ID: 7874170 |
| Jackson CE, Weiss L, Reynolds WA, Forman TF, and Peterson JA. (1976) Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr 88(6): 963-968. PubMed ID: 1271196 |
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