Crouzon Syndrome
Crouzon syndrome also known as craniosynostosis is an autosomal dominant disorder which is caused due to mutations in the FGFR2 gene. It is often diagnosed at birth or in early infancy and there may be a family history but in half of the cases it occurs sporadically. The chief clinical feature is premature closure of the skull cap and cranial sutures which may be accompanied with distinctive facial features, visual defects, acanthosis nigricans and other features. Associated facial features include exopthalmos, hypertelorism, hypoplastic maxilla, short upper lip whereas associated visual defects include amblyopia, strabismus and ametropia. Other features that have been associated with Crouzon syndrome include decreased mental function, hearing loss, fusion of spinal column and respiratory problems. The treatment for this syndrome is early craniectomy and cosmetic reconstruction of the face. Apart from this the patient requires multidisciplinary care for the visual defects, hearing loss and other associated features. Image source: healthjade.net
