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Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
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.
ORPHA:306542Classification level: Disorder
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)
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