MeSH Browser

MeSH Supplementary: Frontonasal dysplasia
Unique ID: C538065
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538065
Entry Term(s): Frontonasal Malformation; Frontorhiny; Median facial cleft syndrome
Registry Number: 0
Heading Mapped to: Face / *abnormalities; *Craniofacial Abnormalities
Frequency: 53
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0532526
Registry Number: 0
Terms: Frontonasal dysplasia Preferred Term
Term UI T744635
Date02/24/2009
LexicalTag NON
ThesaurusID; Frontonasal Malformation
Term UI T809305
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Frontorhiny
Term UI T810950
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Median facial cleft syndrome
Term UI T744636
Date02/24/2009
LexicalTag NON
ThesaurusID

Frontonasal dysplasia MeSH Supplementary Concept Data 2024