Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Disease Export to PDF
Name:
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Description:
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.
ORPHAcode:
306542
Synonyms:
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14