DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Craniosynostosis

MODERATE

Premature fusion of one or more cranial sutures leading to abnormal skull shape. Can be isolated or part of syndromes (Apert, Crouzon, Pfeiffer). Increased intracranial pressure risk with multiple suture involvement.

Global Affected

150.0K

Countries

15

Symptoms

Abnormal head shape
Palpable ridge over suture
Increased head circumference
Developmental delay
Visual problems
Proptosis (syndromic)
Midface hypoplasia (syndromic)

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. Head shape normalizes. Intracranial pressure relieved. Neurodevelopment typically normal. Risk of reoperation 5-10%.

Prevention

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

Research Status

Cranial vault remodeling surgery (6-12 months). Minimally invasive endoscopic techniques with helmet therapy. Multidisciplinary team including genetics. Excellent cosmetic and functional outcomes with treatment.

Affected Countries

AustraliaBrazilCanadaGermanyDenmarkSpainFranceUnited KingdomItalyJapanMexicoNigeriaNetherlandsUnited StatesSouth Africa

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.