Future direction of Moebius field Outcome of the

Future direction of Moebius field Outcome of the Moebius syndrome conference April 24 -25, 2007

Agenda for discussion • Overall goals: – Identify problems and questions – Propose solutions • Areas of research topics: – Definition of Moebius – Mechanisms of disease • Syndromic • Specific manifestations – – Diagnostic categories / diagnosis Management and treatment Cognitive and psychosocial Infrastructure

Definition of Moebius Syndrome/Sequence • Minimum criteria: – Congenital, uni- or bilateral nonprogressive facial weakness and limited abduction of the eye(s). • Additional features may include: – other cranial nerve, motor, orofacial, musculo-skeletal, neurodevelopmental and social problems.

Mechanisms of Moebius A. Etiologies genetics (family-based, trio, association) embryology/developmental biology (teratogens, animal models? ) genetic-environmental interactions neurobiology (anatomy, physiology, functional imaging) natural history B. Etiologies of specific associated features – – Autism spectrum disorders developmental delay Club foot arthrogryposis

Diagnostic categories / diagnosis

Management and treatment • Establish standards of clinical care in the areas of: • Ophthalmologic - Dr. Miller • Musculo-skeletal - Dr. De Pellegrin • Dental - Marina • Facial surgery • Feeding and Nutrition • Oral-motor-speech therapy • Longitudinal assessment, intervention and developmental monitoring • Family/caregiver support • Genetic counseling/education

Cognitive and psychosocial

Infrastructure • Registry – Phenotyping (common data elements) – Familial DNA, blood and tissue repository(ies) – Image data – Autopsy and post-mortem tissue