Prader-Willi Syndrome

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Description from OMIM

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypotonia nervous 96 % 16316432 2014-04-08
Feeding difficulties digestive 91 % 16316432 2014-04-08
Obesity multi 87 % 16316432 2014-04-08
Hypopigmentation integumentary 85 % 16316432 2014-04-08
Short stature skeletal 83 % 16316432 2014-04-08
Psychiatric symptom nervous 81 % 16316432 2014-04-08
Eye abnormalities nervous 77 % 16316432 2014-04-08
Hypogonadism reproductive 76 % 16316432 2014-04-08
Edema integumentary 75 % 22585395 2014-04-10
Developmental delay nervous 61 % 16316432 2014-04-08
Diabetes mellitus type 2 endocrine 50 % 22585395 2014-04-10
Fracture skeletal 50 % 22585395 2014-04-10
Erysipelas integumentary 50 % 22585395 2014-04-10
Constipation digestive 42 % 22585395 2014-04-10
Scoliosis skeletal 42 % 22585395 2014-04-10
Scoliosis skeletal 37 % 16316432 2014-04-08
Seizures nervous 28 % 16316432 2014-04-08
Hypertension circulatory 25 % 22585395 2014-04-10
Stroke nervous 25 % 22585395 2014-04-10
Pneumonia respiratory 25 % 22585395 2014-04-10
Varicose veins circulatory 25 % 22585395 2014-04-10
Reflux digestive 17 % 22585395 2014-04-10
Anemia circulatory 17 % 22585395 2014-04-10
Osteoporosis skeletal 17 % 22585395 2014-04-10
Seizures nervous 0 % 22585395 2014-04-10

List of references:

A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia.
A K Thomson, E J Glasson, A H Bittles,

An investigation of the clinical morbidity and genetic profiles of individuals with Prader-Willi syndrome (PWS) in Western Australia (WA) was undertaken as part of a wider study into the effects of intellectual disability (ID) on the life course of individuals.

Journal of intellectual disability research : JIDR - Jan 2006

Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.
Margje Sinnema, Constance T R M Schrander-Stumpel, Marian A Maaskant, Harm Boer, Leopold M G Curfs,

The life expectancy of persons with Prader-Willi syndrome (PWS) has increased in recent years. Because of the paucity of reports on older persons with PWS, the natural history, the onset, and type of age-related problems are poorly understood. Twelve persons with a genetically confirmed diagnosis of PWS aged over 50 years are described (4 deletion; 8 mUPD). Data on physical, behavioral, psychiatric, and aging characteristics were collected through semi-structured interviews with the individuals with PWS and their main carers. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems were common physical complaints in older people with PWS. Functioning in activities of daily living, psychological functioning, physical functions, and care dependence were substantially worse in the older age group (50+) compared to the control group (18-49 years). Seven out of eight persons with mUPD had a history of psychiatric illness. Behavioral problems were observed in the older age group. Given the combination of age-related physical morbidity, physical appearance, behavioral and psychiatric problems, and functional decline in our cohort, we hypothesize that premature aging occurs in PWS. The care for older people with PWS requires a lifespan approach that recognizes the presence, progression, and consequences of specific morbidity. Special medical surveillance of people with PWS from 40 years onwards would ensure that intervention and support is offered with respect to specific areas of decline at the earliest possible time.

American journal of medical genetics. Part A - Jun 2012