Prader-Willi SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Prader-Willi Syndrome
Prader-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.
Prader-Willi syndrome is caused by a missing gene on chromosome 15. Normally, parents each pass down a copy of this chromosome. The syndrome can occur in a couple of ways:
- The father's genes are missing on chromosome 15
- There are variations with the father's genes on chromosome 15
- There are two copies of the mother's chromosome 15 and none from the father
These genetic changes occur randomly. People who have this syndrome usually do not have a family history of the condition.
Signs of Prader-Willi syndrome may be seen at birth.
- Newborns are often small and floppy with reduced muscle tone
- Male infants may have undescended testicles
Other symptoms may include:
- Trouble feeding as an infant, with poor weight gain
- Almond-shaped eyes
- Delayed muscle and motor function 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
- High blood pressure
- Joint and lung problems
Obesity is the greatest threat to health. Limiting calories will control weight gain. It is also important to control your child's environment to prevent access to food. Your child's family, neighbors, and school must work together, because your 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 density
Taking 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 to treat mental health conditions may be needed.
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Andrea Haqq is a Pediatric Endocrinologist practicing medicine in Durham, North Carolina. Dr. Haqq is rated as an Elite provider by MediFind in the treatment of Prader-Willi Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Bardet-Biedl Syndrome, Prader-Willi Syndrome, Obesity, Sleeve Gastrectomy, and Islet Cell Transplantation.
Antonino Crino practices practicing medicine in Rome, Italy. Mr. Crino is rated as an Elite expert by MediFind in the treatment of Prader-Willi Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Prader-Willi Syndrome, Obesity, C Syndrome, Sleeve Gastrectomy, and Gastrectomy.
Talia Geva-Eldar practices practicing medicine in Jerusalem, Israel. Ms. Geva-Eldar is rated as an Elite expert by MediFind in the treatment of Prader-Willi Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Hypogonadism, Isolated Hypogonadotropic Hypogonadism, and Primary Lateral Sclerosis.
The following organizations can provide resources and support:
- Prader-Willi Syndrome Association -- www.pwsausa.org
- Foundation for Prader-Willi Research -- www.fpwr.org
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.
Complications of Prader-Willi can include:
- Type 2 diabetes
- Right-sided heart failure
- Bone (orthopedic) problems
Contact your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.
Summary: 30% of patients with epilepsy suffer from drug-resistant seizures and are at risk of epilepsy-related complications, from cognitive dysfunctions to premature mortality. Both seizures and their complications are modulated by patients' vigilance states, with a tight and bi-directional interplay between sleep and epilepsy. Several epilepsy complications are associated with sleep, such as sleep-disord...
Summary: Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients. More and more evidence has shown that gut microbiota is closely related to obesity. Probiotics and prebiotics can improve the structure of gut microbiota, thus improve blood lipid levels and other bioch...
Published Date: April 17, 2024
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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