Crouzon Syndrome
It is a genetic disorder also termed as craniosynostosis in which premature fusion of skull bones thus halting the normal growth of skull as well as affecting the shape of head and face 1 . Other names for this syndrome CFD1 craniofacial dysarthrosis craniofacial dysostosis syndrome craniofacial dysostosis type 1 Crouzon craniofacial dysostosis Crouzon's disease Prevalence It is the most common cranio-synostosis with prevalence of about 1 in 16 per million newborns 2 . Cause It is because of the mutation in FGFR2 gene 3 that encodes a protein known as the fibroblast growth factor receptor 2, which normally signals immature cells during embryonic development to become bone cells but due to a mutation in FGFR2 gene overactive signaling leads to premature fusion of the bone cells 4 . Inheritance It is inherited in autosomal dominant pattern which means that a single copy of gene causes the disease 5 . Symptoms The symptoms of crouzon syndrome includes; Strabismus ...