HistoryThis section has been translated automatically.
Prader, Labhart and Willi, 1956
DefinitionThis section has been translated automatically.
Combination of acanthosis nigricans benigna, obesity, short stature, cryptorchidism (see Maldescensus testis) and oligophrenia. In the neonatal period myotonia-like condition. 1% of affected patients suffer from tyrosinase-positive oculocutaneous albinism (OCA2: gene mutations on chromosome 15q as well as PWS; see also Angelman syndrome).
You might also be interested in
Occurrence/EpidemiologyThis section has been translated automatically.
Data on frequency vary between 1/10,000 and 1/170,000 inhabitants.
EtiopathogenesisThis section has been translated automatically.
The disease is attributed to a lack of release of the gonadotropin releasing hormone (Gn-RH) in the hypothalamus. In about half of the patients deletion mutations or translocations on the long arm of chromosome 15 (gene locus: 15q11) could be detected.
ManifestationThis section has been translated automatically.
Men are more frequently affected than women.
LiteratureThis section has been translated automatically.
- Cundall D (2004) The paradox of Prader-Willi syndrome: a genetic model of starvation. Child Care Health Dev 30: 94
- Goldstone AP (2004) Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 15: 12-20
- Prader A, Labhart A, Willi H (1956) A syndrome of obesity, dwarfism, cryptorchidism and oligophrenia following myatonia-like condition in the newborn. Switzerland Med Wschr 86: 1260-1261
Recommended articles
Incoming links (6)
Acanthosis nigricans in hereditary syndromes; Albinism oculocutaneous tyrosinase-positive; Angelman syndrome; Dystrophia adiposogenitalis; Hypomelanosis ito; Laurence-moon-bardet-biedl syndrome;Outgoing links (4)
Acanthosis nigricans benigna; Albinism oculocutaneous tyrosinase-positive; Angelman syndrome; Maldescensus testis;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer