DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Prader-Willi Syndrome

HIGH SEVERITY

A complex genetic disorder caused by loss of paternal gene expression on chromosome 15. Neonatal hypotonia and feeding difficulties progress to hyperphagia, obesity, intellectual disability, and behavioral problems. Hypothalamic dysfunction.

Global Affected

500.0K

Countries

15

Symptoms

Hypotonia (infancy)
Feeding difficulties
Failure to thrive (infancy)
Hyperphagia (childhood)
Obesity
Intellectual disability
Behavioral problems
Hypogonadism
Sleep abnormalities

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Life expectancy improving, now 50-60 years with good care. Obesity-related complications main risk. Growth hormone improves body composition and strength. Behavioral management essential.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Growth hormone therapy improves stature and body composition. Strict dietary control essential. Behavioral interventions. Sex hormone replacement. Beloranib (ZGN-433) trials for hyperphagia. Intensive support required.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNetherlandsSwedenNorwayDenmark

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.