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Condition report · Ophthalmological

Frontonasal Dysplasia 3 (ALX1)

A rare condition present from birth with severe clefting of the face and very small or absent eyes. It is caused by changes in the ALX1 gene, which guides development of the face.

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The condition we analyse

Autosomal recessive

Caused by loss-of-function changes in ALX1, a gene that directs development of the tissues forming the middle of the face and eyes.

Signs and symptoms

Severe facial clefting that can involve the lip, palate and nose, with very small (microphthalmia) or absent eyes, is typical. Widely spaced eyes and a broad nose are also seen. Some people have skull or brain differences, such as an incomplete skull front or a missing or malformed corpus callosum.

What a diagnosis changes

Care is led by a craniofacial team, with surgery, eye and vision care and feeding support. Genetic counselling is available, along with options for testing in future pregnancies.

Genes analysed

Also known as

ALX1-related frontonasal dysplasia; FND3; frontonasal dysplasia 3; frontonasal dysplasia type 3

MONDO:0013271OMIM 613456Orphanet 306542MedGen 462056Sources: [1][3][4][2]

References

  1. Iyyanar PPR, Wu Z, Lan Y, Hu YC, Jiang R, 2022. Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia. Frontiers in cell and developmental biology
  2. Frontonasal dysplasia. MedlinePlus Genetics
  3. Yoon B, Yeung P, Santistevan N, Bluhm LE, Kawasaki K, Kueper J et al., 2022. Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye. Biology open
  4. ALX1 gene. MedlinePlus Genetics

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