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condition of facial difference (craniosynostosis) characterized by underdevelopment of the bones in the middle third of the face and skull; a high, flat, prominent forehead and increased head width, bulging of the eyes, strabismus, receded upper jaw, high and narrow palate.
is a genetic condition with features of craniosynostosis (the early closure of skull sutures) and abnormal development of the eye sockets and midface. There is abnormal fusion between some of the bones of the skull and face that does not allow the bones to grow normally. The features of Crouzon syndrome were first described by the French neurosurgeon Dr. O. Crouzon in 1912. Crouzon syndrome is caused by mutations in Fibroblast Growth Factor Receptor 2.
Craniosynostosis, facial deformity, abnormally protruding eyeballs
An uncommon, autosomal dominant craniofacial disorder characterized by craniosynostosis and dysmorphic facial features.
An inherited disease that causes eyes to be widely spread apart, abnormality of facial bones, and vision impairment.
Rare genetic disorder characterized by malformations of the skull and face, bulging of the eyeballs, widely spaced eyes, underdeveloped upper jaw, and protrusion of the lower jaw.
Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects.