UNC Multidisciplinary Prader-Willi Syndrome Clinic
Prader-Willi syndrome (PWS) is a genetic condition occurring in about 1 in 10,000-30,000 individuals. The condition is characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating behaviors after early childhood. Gradual excessive weight gain and potential for morbid obesity is common. Motor and language development are delayed and most all individuals have some degree of cognitive impairment. Behavior difficulties that develop with age are common. Males and females have hypogonadism, most fail to develop secondary sexual development, and have infertility. Individuals with PWS have short stature, characteristic facial features, and have special medical needs. Special health care needs include nutrition, endocrine, orthopedic, dental, psychologic, speech, neurologic, ophthalmologic. Medical and nutrition management can help prevent or treat some secondary complications of this disorder.
Prader-Willi syndrome is caused by the loss of the expression of the paternal genes located at chromosome location 15q11.2-q13. Loss of gene expression of this region can occur due to a paternally derived deletion, maternal uniparental disomy or an imprinting center defect. Other chromosomal rearrangements that include the PWS region occur rarely.
The UNC Multidisciplinary Prader-Willi Syndrome Clinic serves individuals of all ages with a confirmed genetic diagnosis of Prader-Willi syndrome. In clinic, held every other month, families have the opportunity to meet with an expert team that includes a clinical geneticist, genetic counselor, nutritionist, endocrinologist, psychologist, speech language pathologist, and social worker. Appointments are tailored to address each family’s individual needs for education about Prader-Willi syndrome, medical and psychoeducational evaluation, and therapeutic management and referral options for this complex condition.
To request an appointment, please contact Yezmin Perilla-Young, MS, CGC at 919-966-9568. Documentation of the diagnosis and past medical history is requested.