Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
...
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Preferred term
Prader-Willi Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Labhart Willi Prader Fanconi Syndrome
- Labhart-Willi-Prader-Fanconi Syndrome
- Labhart Willi Syndrome
- Labhart-Willi Syndrome
- Prader Labhart Willi Syndrome
- Prader-Labhart-Willi Syndrome
- Syndrome, Labhart-Willi
- Syndrome, Labhart-Willi-Prader-Fanconi
- Syndrome, Prader-Labhart-Willi
- Syndrome, Willi-Prader
- Willi Prader Syndrome
- Willi-Prader Syndrome
Scope note
- An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
History note
- 1977
In other languages
-
Finnish
-
Prader-Willi
-
Prader-Willin syndrooma
-
syndroma Prader-Willi
-
Swedish
URI
http://www.yso.fi/onto/mesh/D011218
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