Autoszomális recesszív
Caused by loss-of-function changes in ALX1, a gene that directs development of the tissues forming the middle of the face and eyes.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
ALX1-related frontonasal dysplasia; FND3; frontonasal dysplasia 3; frontonasal dysplasia type 3
