Clinical and Molecular Study of CHARGE Syndrom

1. Clinical description of a French cohort of patients with CHARGE syndrome.
2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
3. Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases

Inclusion Criteria: Clinical criteria

Major criteria:

• Ocular coloboma
• Chonamal atresia and/or cleft palate
• Semi-CircularCanals hypoplasia

Minor criteria:

• Cranial nerves
• Hypothalamic-pituitary deficiency
• Internal or external ear malformation
• Cardiac, esophageal malformations
• Intellectual Deficiency

Diagnosis criteria:

• Typical CHARGE: 3 major criteria or 2 major + 2 minor
• Partial CHARGE: 2 major + 1 minor
• Atypical CHARGE: 2 major without minor or 1 major + 2 minor

Exclusion Criteria:

• Absent consentment for genetic analysis