Descriptors Found: 1
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Descriptor English:   Prader-Willi Syndrome 
Descriptor Spanish:   Síndrome de Prader-Willi 
Descriptor Portuguese:   Síndrome de Prader-Willi 
Synonyms English:   Labhart Willi Prader Fanconi Syndrome
Labhart Willi Syndrome
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader Willi Syndrome
Prader-Labhart-Willi Syndrome
Royer Syndrome
Royer's Syndrome
Royers Syndrome
Syndrome, Labhart-Willi
Syndrome, Labhart-Willi-Prader-Fanconi
Syndrome, Prader-Labhart-Willi
Syndrome, Prader-Willi
Syndrome, Royer
Syndrome, Royer's
Syndrome, Willi-Prader
Willi Prader Syndrome
Willi-Prader Syndrome  
Tree Number:   C10.597.606.360.690
Definition English:   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) 
See Related English:   Intellectual Disability
History Note English:   1977 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   11655 
Unique Identifier:   D011218 

Occurrence in VHL: