Synonyms: ALX3-related frontonasal dysplasia | Frontonasal dysplasia type 1 | Isolated median cleft face syndrome
A rare frontonasal dysplasia characterized by hypertelorism wide nasal bridge broad columella widened philtrum widely separated narrow nares poor development of nasal tip midline notch of the upper alveolus columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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