Prader-Willi syndrome

Introduction: Prader-Willi syndrome

Prader-Willi syndrome and Angelman syndrome are two rare chromosome disorders, with very different symptoms, but caused by the same area of DNA. They are important to genetic research because they are caused by imprinting.

Symptoms of Prader-Willi syndrome

• Mental retardation
• Obesity
• Hypotonia
• Hypogonadism
• Short stature

See full list of 43 symptoms of Prader-Willi syndrome

Medical Textbooks Online about Prader-Willi syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Less Common Symptoms of Prader-Willi syndrome

• Poor fine motor coordination
• Poor gross motor coordination
• Upswept frontal scalp hair
• Small head
• Seizures

See full list of 14 occasional symptoms of Prader-Willi syndrome

Wrongly Diagnosed with Prader-Willi syndrome?

• Misdiagnosis of Prader-Willi syndrome

Misdiagnosis and Prader-Willi syndrome

Various reasons for obesity: Various studies have shown that approximately 10% of prepubertal and 15% of adolescent age groups are obese. Parents often blame obesity in children on their diet but endocrine or metabolic causes must be readily differentiated from exogenous obesity by a simple physical examination and an assessment of the linear growth. Children with exogenous obesity tend to have an accelarated linear growth whereas children with secondary causes are usually short. Some congenital or inherited disorders associated with obesity which must be kept in mind include Prader- Willi syndrome, Laurence Moon Biedl syndrome and Beckwith Wiedemann syndrome. Endocrine disorders in children taht rarely cause obesity include hypothyoidism, Cushing's syndrome, insulinomas and Frohlich's syndrome....read more »

Read more about Misdiagnosis and Prader-Willi syndrome

Causes of Prader-Willi syndrome

Read more about causes of Prader-Willi syndrome.

Videos for Prader-Willi syndrome

Patient Surveys for Prader-Willi syndrome

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Reseach about Prader-Willi syndrome

Visit our research pages for current research about Prader-Willi syndrome treatments.

Clinical Trials for Prader-Willi syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Prader-Willi syndrome include:

• Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes - This study has been completed (Current: 23 Nov 2006)
• Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006) - Topiramate
• Nordic Study on the Effects of Growth Hormone (Norditropin SimpleXx) Treatment in Adults With Prader-Willi Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006) - Norditropin SimpleXx
• Investigation of the Developmental, Nutritional and Hormonal Regulation of Ghrelin in Children With Prader-Willi Syndrome - This study is not yet open for patient recruitment (Current: 23 Nov 2006) - Octreotide
• Characteristics of Prader-Willi Syndrome and Early-Onset Morbid Obesity - This study is currently recruiting patients (Current: 23 Nov 2006)

See full list of 6 Clinical Trials for Prader-Willi syndrome

Statistics for Prader-Willi syndrome

• Medical statistics for Prader-Willi syndrome
• Prevalence and incidence statistics for Prader-Willi syndrome
• Death and Mortality statistics for Prader-Willi syndrome
• Society statistics for Prader-Willi syndrome

Medical Guidebooks and Ebooks for Prader-Willi syndrome

• Icon Health Sourcebook for Prader-Willi syndrome

See all guides and ebooks for Prader-Willi syndrome

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Article Excerpts about Prader-Willi syndrome

Prader-Willi syndrome (PWS) is an uncommon inherited disorder characterized by mental retardation, decreased muscle tone, short stature, emotional lability and an insatiable appetite which can lead to life-threatening obesity. The syndrome was first described in 1956 by Drs. Prader, Labhart, and Willi. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Prader-Willi syndrome:

A syndrome characterized at birth by the lack of spontaneous movements and protective reflexes, thus giving an appearance of severe brain damage. Profound hypotonia may cause asphyxia. Sucking and swallowing reflexes are absent or decreased. Deficient thermoregulation, amyotonia, and hypogonadism are usually associated. After a few weeks or months, the affected infants become more responsive and more alert. Areflexia disappears gradually but hypotonia may persist longer. This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity, hypotonia, hyperlaxity, delayed bone maturation, and multiple orofacial and other disoders. There is a tendency to develop diabetes mellitus and cardiac failure in some patients. Pain insensitivity is common. Prader-Willi habitus associated with osteopenia and camptodactyly is known as the Urban-Rogers-Meyer syndrome. - (Source - Diseases Database)

Prader-Willi syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Prader-Willi syndrome, or a subtype of Prader-Willi syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Prader-Willi syndrome as a "rare disease".
Source - Orphanet