Frontonasal dysplasia [Supplementary Concept]

Craniofacial abnormalities defined by two or more of the following findings: (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 (OMIM: 168500); and (7) a V-shaped or widow's peak frontal hairline. Most reported cases are sporadic, but a few familial cases have been reported. Mutations in the ALX3 gene have been identified. OMIM: 136760

Date introduced: August 25, 2010

MeSH Unique ID: C538065

Heading Mapped to:

• Face/abnormalities
• Craniofacial Abnormalities

Entry Terms:

• Median facial cleft syndrome
• Frontonasal Malformation
• Frontorhiny