The CHARGE Association is a heterogenous group of congenital anomalies that occur together but which cannot be ascribed to a known syndrome. The variability in presentation and lack of a defined chromosomal anomaly can make diagnosis difficult.
Common core anomalies ("CHARGE"):
(1) coloboma (C): absence, fissure or defect in an ocular tissue, most commonly affecting the iris, retina or optic disc
(2) heart defects (H): tetralogy of Fallot, atrio-ventricular septal defect, patent ductus arteriosus, truncus arteriosus, double outlet right ventricle, aortic arch anomalies
(3) atresia choanae (A): partial or total obstruction of the posterior nasal airway which may be unilateral or bilateral
(4) retardation of growth and/or development (R): failure to thrive, developmental delay
(5) genital defects (G): micropenis or undescended testis in boys; pubertal absence or delay in both sexes
(6) ear anomalies and deafness (E): low-set ears, ear asymmetry, small or absent lobes, square shape, progressive mixed hearing loss
Other anomalies:
(1) microphthalmia
(2) nystagmus
(3) facial asymmetry
(4) unilateral facial palsy
(5) cleft lip and/or palate
(6) gastroesophageal reflux
(7) esophageal atresia or tracheoesophageal fistula
(8) renal anomalies
(9) facial palsy
(10) laryngomalacia
Need to exclude:
(1) trisomy 13, 18 or 21
(2) deletion 22q11.2 (velocardiofacial syndrome)
(3) oculo-auriculo-vertebral spectrum
(4) diabetic embryopathy
(5) Treacher Collins syndrome (coloboma involves the lower eyelids)
Diagnosis:
(1) exclusion of other conditions
(2) at least 4 of the common anomalies should be present, including either coloboma or choanal atresia
Difficulty in diagnosis:
(1) Not all anomalies need to be present in an affected individual.
(2) The number of anomalies required for diagnosis is undefined. The confidence in the diagnosis increases as the number of anomalies increases.
