Prader-Willi syndrome is a genetic disorder caused by the loss of function of certain paternally inherited genes on chromosome 15, most often through a deletion of that region or through inheriting both copies of chromosome 15 from the mother. Infants typically show weak muscle tone and feeding difficulty, followed in childhood by an insatiable appetite that drives severe obesity risk if unmanaged, along with short stature, intellectual disability and behavioral difficulties. The syndrome was first described in 1956 by Swiss physicians Andrea Prader, Alexis Labhart and Heinrich Willi.
Facts
Classification
Body SystemSourced to the subject's own account ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Connections
Treated By
Source Growth hormone therapy (Wikipedia)
Sources
1. Prader-Willi syndrome (Wikipedia)
WikipediaInfobox: fieldQuote, Infobox: field
genetics, endocrinology, pediatrics
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases sectionQuote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
4. Wikipedia: Prader-Willi syndrome
Wikipedia- Prader-Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15.
Article text - era-first-described
The condition is named after Swiss physicians Andrea Prader and Heinrich Willi who, together with Alexis Labhart, described it in detail in 1956.
Lead section, transmission-route statement
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15.
View the Source 5. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 739
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 739Quote, Orphanet epidemiology, ORPHAcode 739
"PrevalenceClass": "1-9 / 100 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Class only", "PrevalenceType": "Prevalence at birth"
Growth hormone therapy (Wikipedia)
Treated By: Growth hormone therapy, Medical uses, OtherQuote, Treated By: Growth hormone therapy, Medical uses, Other
GH is one of the treatment options an experienced endocrinologist may use when treating a child with PWS.
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