Test Background
Frontonasal dysplasia is characterized by having two or more of the following: hypertelorism, broad nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of nasal tip, anterior cranium bifidum occultum, and V-shaped or widow’s peak frontal hairline. Frontonasal dysplasia is inherited in an autosomal recessive manner. Most cases are sporadic, although, familial cases have been reported. This laboratory performs Sanger sequencing of the ALX3 gene.
Disorder(s)
Frontonasal dysplasia
Gene(s)
ALX3
