Jackson-Weiss syndrome


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FGFR2

A gene on chromosome 10q25.3-q26 that encodes fibroblast growth factor receptor-3, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR3 mutations are associated with Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome and syndromic craniosynostosis.

Jackson-Weiss syndrome

(jak′sŏn-wīs′)
A rare genetic disorder in which the cranial bones fuse prematurely, affecting cognitive development, and the big toes are enlarged and turned toward the midline.
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