Introduction
Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth.
Symptoms
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.
Causes
Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3.
Prevalence
Unknown
Additional Information
https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/cranio-fronto-nasal-dysplasia/