Autozomálně recesivní
Caused by loss-of-function changes in ALX1, a gene that directs development of the tissues forming the middle of the face and eyes.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
ALX1-related frontonasal dysplasia; FND3; frontonasal dysplasia 3; frontonasal dysplasia type 3
