Frontonasal Dysplasia

Frontonasal Dysplasia


Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth.


Symptoms often vary, however more common symptoms include wide spaced eyes, a widow’s peak, and a broad nose. Less common features include eye abnormalities, missing the connection between the two halves of the brain, hearing loss, and undescended testicles in males.


Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3.



Additional Information

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Last Updated on 14 May 2021