Clinical Trial: Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

Brief Summary:

Background:

- Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions.

Objective:

- To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders.

Eligibility:

- People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members.

Design:

  • Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures:
  • Medical and family history and physical examination, including body measurements and vital signs.
  • Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal

functions.

  • Eye examination, including having a video taken of their eyes moving.
  • Hearing evaluation.