Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Orpha code: 306542OMIM code: 613456

Definition

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
Classification

Malformation syndrome

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

No additional description.

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