DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Cleft Lip and Palate

MODERATE

Congenital facial malformations occurring when tissues don't fuse properly during fetal development. Can affect lip alone, palate alone, or both. Most common craniofacial birth defect. Multifactorial etiology with genetic and environmental components.

Global Affected

12.0M

Countries

18

Symptoms

Visible opening in lip
Opening in roof of mouth
Feeding difficulties
Speech problems
Ear infections
Dental problems
Nasal speech
Psychosocial challenges

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 multidisciplinary care. Multiple surgeries often required. Speech outcomes good with early intervention. Dental alignment may require orthodontics. Psychosocial support important.

Prevention

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

Research Status

Surgical repair (lip at 3-6 months, palate 9-18 months). Multidisciplinary team approach. Speech therapy. Orthodontic treatment. Folic acid supplementation reduces risk. Excellent outcomes with comprehensive care.

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.