Frontonasal dysplasia

Definition

Frontonasal dysplasia, also called median cleft syndrome, is a rare disorder affecting primarily the face and head. The causes of frontonasal dysplasia are unknown. Most cases appear to occur randomly (sporadically), but it is suspected that some cases are genetically inherited. The term frontonasal dysplasia was first used in 1970 to describe this disorder.

Description

Frontonasal dysplasia is characterized by malformations of the central portion of the face, especially of the forehead, the nose, and the philtrum (the area between the nose and upper lip). A cleft, or divided area, that traverses one or more of the upper lip, philtrum, nose, and forehead is a hallmark of the disease. Occasionally, affected individuals also experience abnormalities of the brain, heart, and certain...

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