Clinical Research Directory

Study on Moebius Syndrome and Congenital Facial Weakness Disorders

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. * Speech and language assessment, including swallowing studies. * Dental exam. * Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. * Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. * Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. * Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. * Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. * Medical photographs of the face and affected body parts may be taken. * Other specialized tests or consultations, as indicated. * Participants can choose to have a skin biopsy taken. * A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.

Study of Selected X-Linked Disorders: Aicardi Syndrome

Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. The research team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. The investigators are collecting blood and skin biopsy samples from patients and their parents. A permanent cell line is prepared and DNA from the blood and skin samples and cell lines is isolated and then used for genetic testing. The current research includes microarray analysis which which is used to look for duplications or deletions of genetic material, mutation analysis of candidate genes by sequencing, genome-wide sequencing, review of medical records to identify trends suggesting possible candidate genes of interest, and X chromosome inactivation studies.