Crouzon syndrome

Crouzon syndrome, also previously referred to as craniofacial dysostosis (dysostosis craniofacialis), is a congenital cranial developmental disorder with autosomal dominant inheritance. Associations with mutations in the FGFR2 and FGFR3 genes have been described; these genes encode fibroblast growth factor receptors.

The main feature is a tower‑shaped skull (turricephaly) with a broad forehead, sometimes with a high prominence in the region of the anterior fontanelle. This is caused by premature fusion of the sagittal suture. Additional features include exophthalmos (protruding eyeballs), orbital hypertelorism (widely spaced eyes), a mild antimongoloid slant of the palpebral fissures (the axis of the eyelids slopes downward from the center outward), divergent strabismus (exotropia), maxillary hypoplasia (underdeveloped upper jaw), and the so‑called parrot‑beak nose.

Impaired skull growth may lead to compression of the optic nerve with subsequent optic atrophy. For the same reasons, hearing impairment may also occur.

Treatment

Crouzon syndrome can be treated by cranial surgery in early childhood. When surgery is performed, individuals usually reach a normal life expectancy. Even after surgery, mandibular prognathism (reverse overbite) is common; affected individuals have difficulty chewing food and therefore tend to cut or break it into smaller pieces.

• vežovitá lebka
• široké čelo (poprípade vysoký hrboľ v oblasti veľkej fontanely)
• exoftalmus (vystúpené očné bulby)
• orbitálny hypertelorismus (široko od seba postavené oči)
• ľahko antimongoloidné postavenie očných štrbín (os očných viečok smeruje od stredu smerom nadol)
• divergentný strabizmus (rozbiehavé škúlenie)
• hypoplázia maxilou (menšia horná čeľusť)