Craniosynostosis,[1] Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses. This results in restricted skull and brain growth. Because the brain cannot expand in the direction of the fused suture, it is forced to grow in the direction of the open sutures, often resulting in an abnormal head shape and facial features. Some cases of craniosynostosis may result in increased pressure on the brain and developmental delays. It is estimated that craniosynostosis affects 1 in 2,000 live births. It can be the result of an inherited syndrome or sporadic. In sporadic cases, the cause is unknown
Other signs and symptoms (along with craniosynostosis; may not all be present) OMIM reference Gene
Crouzon syndrome wide-set, bulging eyes • beaked nose • flat face 123500 FGFR2, FGFR3
Apert syndrome fused fingers or toes • flat midface 101200 FGFR2
Crouzonodermoskeletal syndrome wide-set, bulging eyes • beaked nose • flat face • dark, velvety skin folds • spine abnormalities • benign growths in the jaw 134934 FGFR3
Jackson-Weiss syndrome enlarged, bent big toes • flat midface 123150 FGFR1, FGFR2
Muenke syndrome coronal synostosis • skeletal abnormalities of the hands or feet • hearing loss 602849 FGFR3
Pfeiffer syndrome broad, short thumbs or big toes • webbed or fused fingers or toes 101600 FGFR1, FGFR2
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