Learn about the disease, illness and/or condition Prader Willi Syndrome (Prader-Willi Syndrome) including: symptoms, causes, treatments, contraindications and conditions at ClusterMed.info.
Prader Willi Syndrome (Prader-Willi Syndrome)
|Prader Willi Syndrome (Prader-Willi Syndrome)|
Prader Willi Syndrome (Prader-Willi Syndrome) Information
Prader-Willi syndrome facts*
*Prader-Willi syndrome facts by John P. Cunha, DO, FACOEP
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.
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.
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).
What if I still have specific questions about Prader-Willi syndrome?
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 other names do people use for Prader-Willi syndrome?
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.
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
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.
Diseases & Illnesses Definitions Of The Day
- Sexual Response Cycle (Phases of Sexual Response) ‐ Introduction to the sexual response cycle, Phase 1: Excitement …
- Loeys-Dietz Syndrome ‐ How is Loeys-Dietz syndrome diagnosed?, How is Loeys-Dietz syndrome treated? …
- Epstein-Barr Virus (Infectious Mononucleosis) ‐ How is mono transmitted or spread? What is the incubation period for mono? What is the contagious period for mono? …
- PUVA Therapy (Photochemotherapy) ‐ How effective is PUVA therapy?, How is PUVA therapy administered? …
- Blepharoplasty (Eyelid Surgery) ‐ How does one prepare for eyelid surgery?, How long is the recovery time for eyelid surgery? …
- Congenital Dysplastic Angiectasia (Klippel-Trenaunay-Weber Syndrome) ‐ Alternative names for Klippel-Trenaunay-Weber (KTW) syndrome …
- Colitis ‐
- Clicking in the Ear (Tinnitus (Ringing in the Ears)) ‐ Can tinnitus be prevented?, Does acupuncture treat tinnitus symptoms? …
- Ephelides (Freckles) ‐ Are freckles inherited?, Are there home remedies for freckles? …
- Upper Gastrointestinal Endoscopy (Endoscopy) ‐ How do I prepare for endoscopy?, What are the risks of endoscopy? …