Moebius syndrome

Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families.^[1][2] In some families the pattern has been suggestive of autosomal dominant inheritance, while in other families it has been suggestive of autosomal recessive or X-linked recessive inheritance.^[2]

Most cases of Moebius syndrome are isolated, occurring sporadically in only one individual in a family. Although a few familial cases have been reported, no specific genetic cause of the condition has been identified and the manner in which the condition may be inherited is unclear. While the exact recurrence risk for Moebius syndrome in a family with one affected individual is not known, it has been estimated to be about 2% (1 in 50).^[2]

Individuals who are interested in learning more about their individual risk to have a child affected with Moebius syndrome may consider speaking with a genetics professional.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.