Prader-willi syndrome - Altmeyers Encyclopedia

History
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Prader, Labhart and Willi, 1956

Definition
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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).

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Dermatology

Acanthosis nigricans benigna

Name for all benign non-paraneoplastic forms of acanthosis nigricans. See classification under Acanthosis n...

Occurrence/Epidemiology
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Data on frequency vary between 1/10,000 and 1/170,000 inhabitants.

Etiopathogenesis
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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.

Manifestation
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Men are more frequently affected than women.

Literature
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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