frontonasal dysplasia; frontonasal malformation; frontorhiny

Pathology

• an array of abnormalities affecting the eyes, forehead & nose & linked to midfacial dysraphia

Genetics

• associated with defects in ALX3 (type 1)
• associated with defects in ALX4 (type 2)

Clinical manifestations

• highly variable
• major findings include
  • ocular hypertelorism due to broadening of the nasal root
  • median facial cleft affecting the nose &/or upper lip & palate
  • unilateral or bilateral clefting of the alae nasi
  • lack of formation of the nasal tip
  • anterior cranium bifidum occultum
  • a V-shaped or widow's peak frontal hairline

More general terms

• dysplasia
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/136760
• OMIM: https://mirror.omim.org/entry/613451