Craniofrontonasal dysplasia
Overview
Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin.
Symptoms
* Premature closing of skull bones in females * Brachycephaly in females * Frontal bossing in males * Increased bony interorbital distance in males * Widely spaced eyes
Causes
Acrofacial dysostosis postaxial, atypical Acrofacial dysostosis, Palagonia type Acrofrontofacionasal dysostosis syndrome Aortic supravalvular stenosis Atelosteogenesis Type III
Diagnosis
* Broad nose * Esotropia * Telechantus * Highly arched palate * Cleft lip * Cleft palate * Clavicle pseudoarthrosis * Short fifth finger * Broad fingers * Long fingers * Short stature * Scoliosis * Neck abnormalities * Chest abnormalities * Hypospadias * Shawl scrotum Note that Craniofrontonasal dysplasia symptoms usually refers to various symptoms known to a patient, but the phrase Craniofrontonasal dysplasia signs may refer to those signs only noticable by a doctor.