frontonasal dysplasia

frontonasal dysplasia type 1

A highly heterogeneous condition (OMIM:136760) defined as two or more of the following:
(1) true ocular hypertelorism;
(2) broadening of the nasal root;
(3) median facial cleft affecting the nose and/or upper lip and palate; 
(4) unilateral or bilateral clefting of the alae nasi;
(5) lack of formation of the nasal tip
(6) anterior cranium bifidum occultum (see OMIM:168500); and
(7) a V-shaped or widow's peak frontal hairline.

Molecular pathology
Caused by defects of ALX3, which encodes a nuclear protein that functions as a transcriptional regulator of differentiation and development.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Frontonasal dysplasia (FND), firstly described in 1967 as the median cleft face syndrome by De Myer, is presented by congenital structure malformations of the midface [1, 2].
There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms [9].
We report a case of frontonasal dysplasia with severe hypertelorism and associated strabismus pattern.
Our case with frontonasal dysplasia shows that severe hypertelorism is frequently associated with exodeviations.
Frontonasal dysplasia: case report and review of the literature.
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation.