frontonasal dysplasia

frontonasal dysplasia

a hereditary form of defective midline development of the head and face, including ocular hypertelorism, occult cleft nose and maxilla, and sometimes mental retardation or other defects. Also called median cleft facial syndrome.

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.
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.
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Frontonasal dysplasia (median cleft face syndrome): comments on aetiology and pathogenesis.
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation.