UNC Comprehensive Angelman Syndrome Clinic

Angelman syndrome is a genetic condition occurring in about 1 in 12,000-20,000 individuals. The condition is characterized by developmental delay, speech impairment, intellectual disability, microcephaly, seizures, movement disorder and a happy demeanor with frequent laughter. Other features may include feeding and swallowing problems, sleep disturbance, hyperactivity, frequent drooling, mouthing behaviors, strabismus, hypopigmentation, scoliosis and constipation.

The UNC Comprehensive Angelman Syndrome Clinic is a multidisciplinary clinic for individuals of all ages with a confirmed genetic diagnosis of Angelman syndrome. This clinic is for children and adults with known deletions of the Angelman syndrome critical region, disease causing changes in the UBE3A gene, paternal uniparental disomy of chromosome 15 and imprinting center defects. Clinic is held once a month and families have the opportunity to meet with an expert team including a clinical geneticist, genetic counselor, neurologist, psychiatrist, psychologist, speech language pathologist, physical therapist, occupational therapist and social worker. Appointments are tailored to address each family’s individual needs for education about Angelman syndrome, medical and psychoeducational management, and therapeutic/research options for this complex condition. To request an appointment, please visit the UNC Comprehensive Angelman syndrome Clinic.  At the bottom of the page are instructions to make an appointment and links to complete a secure questionnaire (either online via download).

For additional information about Angelman syndrome, please visit the Angelman Syndrome Foundation and The Foundation for Angelman Syndrome Therapeutics (FAST)