frontonasal dysplasia type 1

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.

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