CHARGE syndrome

What it is

CHARGE is an acronym, and these are the components of CHARGE syndrome:

• C: coloboma of the eye, a gap in one of the eye structures, usually the iris.
• H: heart defects, commonly congenital heart disease such as septal defects or conotruncal abnormalities.
• A: atresia of the choanae, narrowing or closure of the nasal passages, which can lead to breathing problems.
• R: retarded growth and development, that is delayed growth and delayed physical and cognitive development.
• G: genital abnormalities, which can include underdeveloped genitalia in both males and females.
• E: ear anomalies, abnormalities in the ears which can lead to hearing loss and malformed ears.

The mode of inheritance is autosomal dominant, and the gene is CHD7.

How it is diagnosed

The diagnostic criteria are split into major and minor.

Major criteria: 1) ocular colobomas; 2) choanal atresia; 3) cranial nerve dysfunction, that is anosmia, facial palsy or auditory nerve hypoplasia; 4) ear anomalies.

Minor criteria: genital hypoplasia; developmental delay; cardiovascular anomalies; cleft lip and/or palate; tracheoesophageal fistula or esophageal atresia; facial dysmorphology, that is a square face, prominent forehead and flat midface; growth failure; a 'J'-shaped hockey stick palmar crease.

The count then names the label. Definite CHARGE syndrome is 4 major, or 3 major and 3 minor. Probable CHARGE syndrome is 1 or 2 major and several minor.