Prader-Willi syndrome
| Prader-Willi syndrome | |
|---|---|
| Synonyms | Labhart-Willi syndrome, Prader's syndrome, Prader-Labhart-Willi-Fanconi syndrome |
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| Eight year old with Prader–Willi syndrome, exhibiting characteristic obesity | |
| Pronunciation | /ˈprɑːdər ˈvɪli/ |
| Classification and external resources | |
| Specialty | medical genetics, pediatrics |
| ICD-10 | Q87.1 |
| ICD-9-CM | 759.81 |
| OMIM | 176270 |
| DiseasesDB | 10481 |
| MedlinePlus | 001605 |
| eMedicine | ped/1880 |
| Patient UK | Prader–Willi syndrome |
| MeSH | D011218 |
| GeneReviews | |
| Orphanet | 739 |
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns symptoms include weak muscles, poor feeding, and slow development. In childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes. There is also typically mild to moderate intellectual impairment and behavioral problems. Often the forehead is narrow, hands and feet small, height short, skin light in color, and they are unable to have children.
About 70% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases the person has two copies of chromosome 15 from their mother and none from their father. As parts of the chromosome from the mother are turned off they end up with no working copies of certain genes. PWS is not generally inherited but instead the genetic changes happen during the formation of the egg, sperm, or in early development. There are no known risk factors. Those who have one child with PWS have less than a 1% chance of the next child being affected. A similar mechanism occurs in Angelman syndrome except there is a defective chromosome 15 from the mother or two copies from the father.
Prader–Willi syndrome has no cure. Treatment, however, may improve outcomes, especially if carried out early. In newborns feeding difficulties may be supported with feeding tubes. Strict food supervision is typically required starting around the age of three in combination with an exercise program. Growth hormone therapy also improves outcomes. Counseling and medications may help with some behavioral problems. Group homes are often necessary in adulthood.
PWS affects between 1 in 10,000 and 1 in 30,000 people. Males and females are affected equally. The condition is named after Andrea Prader, Heinrich Willi, and Alexis Labhart who described it in detail in 1956. An earlier description occurred in 1887 by John Langdon Down.
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