DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Gastroschisis

HIGH SEVERITY

A congenital abdominal wall defect where intestines protrude through a defect usually to the right of the umbilicus. Not covered by protective membrane (unlike omphalocele). Increasing incidence worldwide, especially in young mothers.

Global Affected

25.0K

Countries

15

Symptoms

Exposed intestines at birth
Bowel dilation/thickening
Malrotation
Short bowel syndrome (complication)
Feeding intolerance
Growth restriction

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

Excellent with surgery. Survival rate 90%+. Long-term complications uncommon. Growth and development usually normal. Short bowel syndrome in 10-20%.

Prevention

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

Research Status

Primary or staged surgical closure. Protective silo placement. Parenteral nutrition. Management of short bowel syndrome if present. Survival >90% with modern care. Long-term nutritional support may be needed.

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.