Definition of Prader-Willi syndrome
Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones.
Causes, incidence, and risk factors
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father’s chromosome. The remaining patients frequently have two copies of the mother’s chromosome 15.
Symptoms
Symptoms may include:
Signs and tests
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.
Treatment
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.
Expectations (prognosis)
Appropriate education will be needed for the affected person’s IQ level. Weight control will allow for a much more comfortable and healthful life.
Review
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/2/2009
