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frontonasal dysplasia; frontonasal malformation; frontorhiny
Pathology:
- an array of abnormalities affecting the eyes, forehead & nose & linked to midfacial dysraphia
Genetics:
- associated with defects in ALX3 (type 1) [1]
- associated with defects in ALX4 (type 2) [2]
Clinical manifestations:
- highly variable
- major findings include
- ocular hypertelorism due to broadening of the nasal root
- median facial cleft affecting the nose &/or upper lip & palate
- unilateral or bilateral clefting of the alae nasi
- lack of formation of the nasal tip
- anterior cranium bifidum occultum
- a V-shaped or widow's peak frontal hairline
General
dysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- OMIM :accession 136760
- OMIM :accession 613451