Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Synonyms: ALX1-related frontonasal dysplasia | Frontonasal dysplasia type 3
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare genetic orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate facial cleft extreme microphtalmia and hypertelorism frequently associated with eyelid colobomata sparse or absent eyelashes/eyebrows wide nasal bridge with hypoplastic alae nasi low-set posteriorly rotated ears and caudal appendage in the sacral region.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome?
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