DISEASE SCANNER
Global Incurable Diseases Tracker
CHARGE Syndrome
A rare genetic disorder characterized by a specific set of birth defects: Coloboma, Heart defects, Atresia of the choanae, Growth retardation, Genital abnormalities, and Ear abnormalities. Caused by mutations in the CHD7 gene in most cases. Affects approximately 1 in 8,500-15,000 births.
800.0K
27
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1CHD7 gene testing
- 2Clinical criteria evaluation
- 3Imaging studies (heart, brain)
- 4Hearing evaluation
- 5Vision examination
- 6Endoscopy for choanal atresia
- 7Genetic counseling
Prognosis
Survival depends on severity of heart defects and choanal atresia. With modern medical care, many survive into adulthood. Intellectual disability ranges from mild to severe. Most require lifelong medical care and support. Independence varies widely. Early intervention significantly improves outcomes.
Prevention
- Genetic counseling for families
- Prenatal testing available
- Early diagnosis at birth
- Multidisciplinary team approach
- Family support programs
Research Status
Multidisciplinary care from birth. Surgical repair of heart defects and choanal atresia. Cochlear implants for hearing loss. Early intervention services. Feeding therapy and possible G-tube. Hormone replacement therapy. Lifelong management required.
Affected Countries
Sources
- https://www.mayoclinic.org/diseases-conditions/charge-syndrome
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.