CHARGE Syndrome

• Coloboma
  • Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals)
• Heart Defects (75-85%)
  • Almost every type of congenital heart defect has been described including VSD, ASD, PDA
  • Many have multiple and complex defects: aortic arch defects, shunts, AV canal and others. Cardiology of CHARGE
• Atresia of the choanae
  • Unilateral or bilateral choanal atresia or stenosis (50%-60%)
• Retarded growth and development
  • Growth deficiency (70%-80%)
  • Developmental Delay
• Genital abnormalities
  • Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females
• Ear anomalies
  • Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%)
  • impaired hearing and/or swallowing problems (70-80%)
• Other problems
  • Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), swollowing problems (70-90%)
  • Orofacial clefts (15%-20%)
  • Tracheoesophageal fistula (15%-20%)

• Ocular Coloboma
• Choanal atresia or stenosis
• Hearing loss
• Cranial nerve abnormalities

• Heart Defects
• Growth and Developmental Delay
• Cleft Lip and or Palate
• Genital abnormalities
• Tracheoesophageal fistula

• Estimated to occur in 1:8,500 to 1:10,000 people

• Inheritance Pattern
  • Autosomal Dominant, most with new mutation
• Genes
  • CHD7 found to cause more than 50% of cases
  • CHD7 gene product regulates gene expression by chromatin remodeling.
  • CHD7 mutations can have varied and widespread effects during embryonic development

• Retinal Detachment Risk: 8% in a study by Keech and others-1997
• Vision may be affected or not depending upon the position and extent of the coloboma
• Trial of ambylopia treatment may be warranted
• Cataract may accompany coloboma

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Cardiology of CHARGE