Prader-Willi Syndrome

Prader-Willi Syndrome is a rare genetic disorder caused by the loss of function of specific genes on chromosome 15. It affects multiple systems in the body and is primarily characterized by weak muscle tone, poor growth, excessive hunger, and intellectual and behavioral problems. Individuals with PWS often experience constant hunger, which can lead to obesity and related complications if not carefully managed.

Symptoms

Symptoms of Prader-Willi Syndrome include:

• Poor muscle tone (especially in infancy)
• Feeding difficulties in early infancy, followed by insatiable appetite in childhood
• Rapid weight gain and obesity
• Short stature and small hands/feet
• Developmental delays and learning difficulties
• Behavioral issues such as temper tantrums or obsessive-compulsive behaviors
• Delayed or incomplete puberty
• Sleep abnormalities
• Distinct facial features (e.g., almond-shaped eyes, narrow forehead)

Types of PWS

Prader-Willi Syndrome is classified based on the genetic cause of the chromosome 15 abnormality:

• Paternal deletion: A deletion on the father’s copy of chromosome 15 (most common cause).
• Maternal uniparental disomy (UPD): The child inherits two copies of chromosome 15 from the mother and none from the father.
• Imprinting defect: A problem in the gene's imprinting center affects gene expression on chromosome 15.

Causes

Prader-Willi Syndrome is caused by the absence of active genes in a specific region of the paternal chromosome 15 (15q11-q13). The disorder is not typically inherited but results from random genetic errors during conception. However, rare cases involving imprinting defects may be passed down.

Prevention and Care

There is no way to prevent PWS, but early diagnosis and intervention can improve quality of life. Common care strategies include:

• Strict supervision of food intake to prevent obesity
• Hormone therapy (such as growth hormone) to improve growth and muscle tone
• Special education and behavioral therapy
• Regular monitoring of physical and developmental health
• Supportive care to address sleep, behavior, and learning challenges

Prader-Willi Syndrome

Prader-Willi syndrome is a rare and complex genetic disorder that impacts the metabolic, endocrine, and neurologic systems. The syndrome manifests with severe hypotonia and feeding difficulties during the early years of life, leading to global developmental delays. Patients with Prader-Willi syndrome often exhibit behavioral and intellectual challenges.

Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment.

A Review of Prader–Willi Syndrome

Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia and morbid obesity starting in early childhood became the hallmark of this condition.

The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-13. PWS features a complex behavioral phenotype, including hyperphagia, anxiety, compulsivity, rigidity, repetitive speech, temper outbursts, aggressivity, and skin-picking.

The paradox of Prader-Willi syndrome revisited: Making sense of the phenotype

Prader-Willi syndrome arises as a consequence of absent paternal copies of maternally imprinted genes at 15q11-13. Such gender-of-origin imprinted genes are expressed in the brain and also in mammalian placenta where paternally expressed imprinted genes drive foetal nutritional demand.

Prader-Willi syndrome: reflections on seminal studies and future therapies

Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic imprinting of the 15q11-q13 locus is established in the germline and is largely controlled by a bipartite imprinting centre.

EB Research Network

The EB Research Network is a collaborative global network of organizations, researchers, and advocates working together to advance research and find treatments for Epidermolysis Bullosa.

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