Table 1 Diagnostic criteria for CHARGE syndrome
From: CHARGE syndrome
Features of CHARGE syndrome | Â | Later childhood/adolescent issues* |
|---|---|---|
Major 4C's ** | ||
Ocular coloboma | C oloboma -of iris, retina, choroid, disc; microphthalmia | Photophobia; retinal detachment Corneal abrasions |
Choanal atresia/stenosis | C hoanal atresia (or Cleft palate) – unilateral/bilateral, membranous/bony, stenosis/atresia | Facial growth problems, recurrent closure and resurgeries, unilateral nasal discharge |
Cranial nerve anomalies | C ranial nerve dysfunction – Olfactory tract anomalies – Facial palsy (unilateral or bilateral), Sensorineural deafness, Velopharyngeal incoordination – swallowing problems | Feeding/swallowing problems; gastroesophageal reflux; hiatus hernia |
Characteristic ear anomalies | C haracteristic ear abnormalities – External ear (lop or cup shaped),, Middle ear (ossicular malformations, chronic serous otitis), mixed deafness, semicircular canal +/-cochlear defects | Progressive hearing loss; chronic middle ear infections; vestibular problems affecting balance and/or motor skills. |
Minor | ||
Cardiovascular malformations | Cardiovascular malformations – All types: especially conotruncal defects (e.g. Tetralogy of Fallot), AV canal defects, and aortic arch anomalies | Arrhythmias; angina; further cardiac surgeries |
Genital hypoplasia | Genital hypoplasia – Males: micropenis, cryptorchidism; Females: hypoplastic labia, Both: Delayed incomplete pubertal development | Pubertal delay, hormone replacement; fertility (unsure); hypogonadotrophic hypogonadism, osteoporosis |
Cleft lip/palate | Orofacial cleft – Cleft lip and/or palate | Cosmetic concerns; self-image |
Tracheoesophageal fistula | Tracheoesophageal fistula – Tracheoesophageal defects of all types | Reflux esophagitis; feeding/swallowing problems |
Distinctive CHARGE facies | Characteristic face – sloping forehead, flattened tip of nose | Cosmetic concerns; self-image |
Growth deficiency | Growth deficiencies – Short stature Borderline growth hormone (GH) stimulation tests | Growth hormone (GH) replacement Obesity |
Developmental delay | Developmental delay – Delayed motor milestones, language delay, mental retardation | Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive disorders; Attention Deficit Hyperactivity Disorder (ADHD) |
Occasional*** | ||
Renal anomalies | Duplex system, Vesicoureteric reflux | Renal failure |
Spinal anomalies | Scoliosis; Osteoporosis | Scoliosis |
Hand anomalies | Fifth finger clinodactyly, camptodactyly and cutaneous syndactyly | Fine motor problems; cosmetic concern |
Neck/shoulder anomalies | Sloping, Sprengel's deformity, kyphosis | Self-image concern |