Frontonasal dysplasia
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Frontonasal dysplasia (FND) is a congenital malformation of the midface.[1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead.[1] The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.[2][3]
Frontonasal dysplasia | |
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Other names | median cleft face syndrome, frontonasal dysostosis, frontonasal malformation, Tessier cleft number 0/14 |
Infant with frontonasal dysplasia | |
Specialty | Medical genetics |