DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Williams Syndrome

MODERATE

A microdeletion syndrome caused by deletion of 7q11.23 including ELN gene. Characterized by cardiovascular disease (supravalvular aortic stenosis), distinctive facial features, intellectual disability, and unique personality (overly friendly).

Global Affected

30.0K

Countries

15

Symptoms

Characteristic facial features
Supravalvular aortic stenosis
Intellectual disability
Friendly personality
Anxiety
Strong empathy
Musical ability
Dental 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

Good with multidisciplinary care. Cardiac issues require monitoring. Developmental support improves function. Friendly personality typical. Life expectancy slightly reduced.

Prevention

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

Research Status

Cardiac surveillance and intervention. Developmental and educational support. Anxiety treatment. Multidisciplinary care. No cure for underlying genetic cause. Social skills training helpful.

Affected Countries

AustraliaBrazilCanadaGermanySpainFranceUnited KingdomIcelandItalyJapanMexicoNetherlandsNorwaySwedenUnited States

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.