CHARGE syndrome

Etymology
CHARGE is an acronym for the features listed in the definition: coloboma, heart defect, etc.

Noun

 * 1) A rare syndrome caused by a genetic disorder, usually involving coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.