Fibroblast growth factor receptor (FGFR) ; related craniosynostosis; acrocephalosyndactyly
FGR2 gene –affects receptor that interact with FGF (signaling molecules)
Characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
1 in 100,000 ; 1 :65,000 – 88,0000
Bicoronal craniosynostosis or clover leaf skull, or distinctive facial features and variable hands and foot findings (fused thumbs and fingers and toes syndactyly); occasional visceral problem.
Autosomal dominant but can be a “de novo” mutation
Dependent on surgery and age when done ; intelligence varies from normal to mental deficiency
- Medical: cornea protection, upper airway obstruction, sleep apnea, ear infection with hearing deficit, psychological and social support
- Surgical: cranial surgery, ear tubes, nasal surgery, orbital surgery, midfacial surgery, etc.
- NATIONAL CENTER FOR BIOTECHNOLOGY INFORMATION (www.ncbi.nlm.nih.gov)
- MEDSCAPE (www.emedicine.medscape.com)