Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:  
Mutations
1   Amish  
Gene: FGFR2
Base Change: C>G, at nucleotide 1031
Amino Acid Change: ala 344 --> gly
Last updated: 2019-02-19 

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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