BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuPrader-Willi syndromePrader-Willi syndrome is a disease that is present from birth (congenital). It affects many parts of the body. People with this condition feel hungry all the time and become obese. They also have poor muscle tone, reduced mental ability, and underdeveloped sex organs. Causes Prader-Willi syndrome is caused by a missing gene on chromosome 15. Normally, parents each pass down a copy of this chromosome. The defect can occur in a couple of ways:The father's genes are missing on chromosome 15 There are defects or problems with the father's genes on chromosome 15 There are two copies of the mother's chromosome 15 and none from the fatherThese genetic changes occur randomly. People who have this syndrome usually do not have a family history of the condition. Symptoms Signs of Prader-Willi syndrome may be seen at birth.Newborns are often small and floppy Male infants may have undescended testicles Other symptoms may include:Trouble feeding as an infant, with poor weight gain Almond-shaped eyes Delayed motor development Narrowed head at the temples Rapid weight gain Short stature Slow mental development Very small hands and feet in comparison to the child's body Children have an intense craving for food. They will do almost anything to get food, including hoarding. This can result in rapid weight gain and morbid obesity. Morbid obesity may lead to:Type 2 diabetes Type 2 diabetesType 2 diabetes is a lifelong (chronic) disease in which there is a high level of sugar (glucose) in the blood. Type 2 diabetes is the most common f...Read Article Now Book Mark Article High blood pressure High blood pressureBlood pressure is a measurement of the force exerted against the walls of your arteries as your heart pumps blood to your body. Hypertension is the ...Read Article Now Book Mark Article Joint and lung problems Exams and Tests Genetic testing is available to test children for Prader-Willi syndrome.As the child grows older, lab tests may show signs of morbid obesity, such as:Abnormal glucose tolerance High insulin level in the blood Low oxygen level in the bloodChildren with this syndrome may not respond to luteinizing hormone-releasing factor. This is a sign that their sex organs are not producing hormones. There also may be signs of right-sided heart failure and knee and hip problems. Treatment Obesity is the greatest threat to health. Limiting calories will control weight gain. It is also important to control a child's environment to prevent access to food. The child's family, neighbors, and school must work together, because the child will try to get food wherever possible. Exercise can help a child with Prader-Willi syndrome gain muscle.Growth hormone is used to treat Prader-Willi syndrome. It can help:Build strength and agility Improve height Increase muscle mass and decrease body fat Improve weight distribution Increase stamina Increase bone densityTaking growth hormone therapy may lead to sleep apnea. A child who takes hormone therapy needs to be monitored for sleep apnea.Low levels of sex hormones may be corrected at puberty with hormone replacement.Mental health and behavioral counseling are also important. This can help with common problems such as skin picking and compulsive behaviors. Sometimes, medicine may be needed. Support Groups The following organizations can provide resources and support:Prader-Willi Syndrome Association -- www.pwsausa.org Foundation for Prader-Willi Research -- www.fpwr.org Outlook (Prognosis) The child will need the right education for their IQ level. The child will also need speech, physical, and occupational therapy as early as possible. Controlling weight will allow for a much more comfortable and healthy life. Possible Complications Complications of Prader-Willi can include:Type 2 diabetes Right-sided heart failure Bone (orthopedic) problems When to Contact a Medical Professional Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.Open ReferencesReferencesCooke DW, DiVall SA, Radovick S. Normal and aberrant growth in children. In Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.Escobar O, Viswanathan P, Witchel SF. Pediatric endocrinology. In: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 9.Kumar V, Abbas AK, Aster JC. Genetic and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 7.AllVideoImagesTogRelated Information Hypotonia(Symptoms)Hypogonadism(Condition)Chromosome(Special Topic)Blue discoloration of the skin(Symptoms) Review Date: 3/25/2020 Reviewed By: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. 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