Genomic coordinate (human 10:121,478,330 FGFR2) & (mouse 7:129,764,181 Fgfr2).
Cytoband (human 10q26.13 FGFR2) & (mouse 7qF3 Fgfr2).
Here I present: “Jackson-Weiss Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FGFR2) icd10=Q87.8
INTRODUCTION.
Jackson-Weiss syndrome (JWS) is a genetic disorder primarily characterized by premature fusion of certain skull bones (craniosynostosis) and distinctive foot abnormalities. It was first described in 1976 in a large Amish kindred and is part of a group of conditions caused by mutations in the fibroblast growth factor receptor (FGFR) genes.
Key Characteristics.
The presentation of Jackson-Weiss syndrome (JWS) varies significantly, even among members of the same family.
Foot Abnormalities:
Short, wide big toes that often bend away from the other toes (medial deviation).Fusion of bones in the feet, such as the tarsal or metatarsal bones.Webbing or fusion of the second and third toes (syndactyly).Hands are almost always normal, which helps distinguish JWS from similar conditions like Pfeiffer syndrome.
Craniofacial Features:
Craniosynostosis leads to a misshapen skull, often resulting in a bulging forehead (frontal bossing) and a flat midface.Widely spaced eyes (hypertelorism) and protruding eyes (proptosis).Possible hearing impairment or crossed eyes (strabismus).
Causes and Genetics:
Gene Mutation: Most cases are caused by mutations in the FGFR2 gene. This gene provides instructions for a protein that signals immature cells to become bone cells; the mutation overstimulates this signaling, leading to premature bone fusion.
Inheritance: It follows an autosomal dominant pattern, meaning a single copy of the altered gene from one parent is sufficient to cause the disorder. It can also occur as a new (de novo) mutation in individuals with no family history.
There is evidence that Jackson-Weiss syndrome, an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet is caused by mutation in the fibroblast-growthfactor-receptor-2 (FGFR2) gene encoded on genomic coordinate 10:121,478,330 and cytoband 10q26.13 in humans.
