Frontorhiny

Definition:

Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder is caused by disturbed developmental sequence between 4 and 8 weeks in which formation of the face takes place.

References:

[1]. Nguyen S Pham, et al. Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management. Arch Facial Plast Surg. 2011 Nov-Dec;13(6):415-20. [Content Brief]

[2]. Stephen R F Twigg, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009 May;84(5):698-705. [Content Brief]

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