- Prader-Willi syndrome facts*
- What is Prader-Willi syndrome?
- What are the signs, symptoms, and physical features of Prader-Willi syndrome?
- How common is, and what causes Prader-Willi syndrome?
- Can Prader-Willi syndrome be inherited?
- Where can I find information about treatment for Prader-Willi syndrome?
- Where can I find additional information about Prader-Willi syndrome?
- What other names do people use for Prader-Willi syndrome?
- What if I still have specific questions about Prader-Willi syndrome?
- Where can I find general information about genetic conditions?
Prader-Willi syndrome facts*
*Prader-Willi syndrome facts by John P. Cunha, DO, FACOEP
- Prader-Willi syndrome (also called Prader-Labhart-Willi syndrome, or PWS) is a complex genetic condition. Infants have weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, individuals may develop an insatiable appetite, which leads to chronic overeating (hyperphagia), obesity, and type 2 diabetes mellitus.
- Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15, though it is not usually inherited.
- People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems such as temper tantrums, stubbornness, and compulsive behavior are common. Many have sleep abnormalities.
- Individuals with PWS have distinctive facial features, short stature, and small hands and feet. Some have fair skin and light-colored hair. Both males and females have underdeveloped genitals. Puberty is delayed or incomplete, and most are infertile.
What is Prader-Willi syndrome?
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, some affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).
What are the signs, symptoms, and features of Prader-Willi syndrome?
People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper tantrums, stubbornness, and compulsive behavior. Many affected individuals also have sleep abnormalities.
Additional features of this condition include distinctive facial features, short stature, and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).
How common is, and what causes Prader-Willi syndrome?
Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Prader-Willi syndrome occurs when the region of the paternal chromosome 15 containing these genes is missing.
Researchers are working to identify genes on chromosome 15 that are responsible for the characteristic features of Prader-Willi syndrome. They have determined that a deletion of the OCA2 gene on chromosome 15 is associated with unusually fair skin and light-colored hair in some affected individuals. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes. Researchers have not definitively connected any other genes with specific signs and symptoms of Prader-Willi syndrome.
Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted in each cell. In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15. Each of these genetic changes results in a loss of gene function in a critical region of chromosome 15.
Can Prader-Willi syndrome be inherited?
Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.
Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic defect that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next.
Where can I find information about treatment for Prader-Willi syndrome?
These resources address treatment or management of Prader-Willi syndrome or some of its symptoms.
- DNA Test
- Gene Review: Prader-Willi Syndrome
- MedTerms: Hypotonia
- MedlinePlus Encyclopedia: Prader-Willi syndrome
You might also find information on treatment of Prader-Willi syndrome in Educational resources and Patient support.
Where can I find additional information about Prader-Willi syndrome?
You may find the following resources about Prader-Willi syndrome helpful. These materials are written for the general public.
- NIH Publications - National Institutes of Health (2 links)
- MedlinePlus - Health information (4 links)
- Educational resources - Information pages (7 links)
- Patient support - For patients and families (4 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- ClinicalTrials.gov - Linking patients to medical research
- PubMed - Recent literature Online Books - Medical and science texts Scriver's
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What if I still have specific questions about Prader-Willi syndrome?
- See How can I find a genetics professional in my area? in the Handbook.
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What is a chromosome?
- Can changes in the number of chromosomes affect health and development?
- Are chromosomal disorders inherited?
- What are genomic imprinting and uniparental disomy?
These links provide additional genetics resources that may be useful.
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SOURCE: National Library of Medicine, Genetics Home Reference. Prader-Willi Syndrome.
Last updated: 9/19/2007
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Angelman Syndrome
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Children's Health
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The major goal in treating diabetes is controlling elevated blood sugar without causing abnormally low levels of blood sugar. Type 1 diabetes is treated with:
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Genetic Counseling
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Genetic Disease
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Learning Disability
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
Obesity (Weight Loss)
Obesity is the state of being well above one's normal weight. A person has traditionally been considered to be obese if they are more than 20% over their ideal weight. That ideal weight must take into account the person's height, age, sex, and build.
Obsessive Compulsive Disorder (OCD)
Obsessive compulsive disorder (OCD) is an anxiety disorder that causes a person to suffer repeated obsessions and compulsions. Symptoms include irresistible impulses despite a person's realization that the thoughts are irrational, excessive hand washing, skin picking, lock checking, or repeatedly rearranging items. People with OCD are more likely to develop trichotillomania, muscle or vocal tics, or an eating disorder. Treatment for OCD includes psychotherapy, behavioral therapy, and medication.
Puberty
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
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