Charge Syndrome

From Anvita Health Wiki

Contents 1 Pathology 2 Genetics 3 More General Terms 4 Internet Database 5 References

Pathology

• tetralogy of Fallot & other cardiac anomalies
• colobomas
• choanal atresia
• mental retardation & growth deficiency
• genital & ear anomalies

Genetics

• most affected individuals have mutations in the CHD7 gene

More General Terms

• developmental disorder
• syndrome

Internet Database

OMIM: 214800

References

1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
2. OMIM [1]

CHARGE syndrome