Prader–Willi syndrome
Sign in to saveAlso known as Prader Willi syndrome, Prader-Willi syndrome, PWS, Prader–Labhart–Willi-Fanconi syndrome
rare genetic disorder
Key facts
- Other names
- Prader–Labhart–Willi-Fanconi syndrome
- Pronunciation
- / ˈ p r ɑː d ər ˈ v ɪ l i / , / ˈ p r eɪ d ər w ɪ l i / , / ˈ p r ɑː d ər ˈ w ɪ l i /
- Specialty
- Genetics, endocrinology, pediatrics
- Symptoms
- Babies : weak muscles , poor feeding, slow development , Children : constantly hungry, intellectual impairment , behavioural problems
- Usual onset
- occurs at or near the time of conception for unknown reasons
- Duration
- Lifelong
- Types
- Three main molecular mechanisms result in PWS: paternal deletion, maternal UPD 15, and imprinting defects
- Causes
- Genetic disorder (typically new mutation)
- Diagnostic method
- Genetic testing
- Treatment
- Feeding therapy, physical therapy, occupational therapy, strict food supervision, exercise program, counseling
- Medication
- Growth hormone therapy
- Frequency
- 1 in 15,000–20,000 people
via Wikipedia infobox
Research
4,991 papers- Prader-Willi syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019
- Prader-Willi Syndrome: The More We Know, the Less We Know.Missouri medicine · 2024
- Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.Journal of endocrinological investigation · 2015
- Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.The lancet. Diabetes & endocrinology · 2021
via PubMed
Wikidata facts
- Named after
- Heinrich Willi
- Image
- Prader-WilliBMC.png
Show 7 more facts
- Commons category
- Prader-Willi syndrome
- health specialty
- neurology
- NCI Thesaurus ID
- C75463
- exact match
- identifiers.org/doid/DOID:11983
- ICD-9-CM
- 759.81
- external data available at URL
- www.nanbyou.or.jp/entry/4768
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (7)
via Wikidata · CC0
~16 min read
Encyclopedic overview
Eight-year-old patient with a severe form of PWS
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In babies, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.
Excerpted from Wikipedia’s “Prader–Willi syndrome” article, available under the CC BY-SA 4.0 licence.