Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Orpha code: 306542OMIM code: 613456

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
ALX1-related frontonasal dysplasia
Dysplazja czołowo-nosowa związana z ALX1
Frontonasal dysplasia type 3
Kod ORPHA
306542
Kod OMIM
613456
Kod ICD10
-
Kod ICD11
-

No additional description.

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