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Diagnostic criteria for CHARGE syndrome |
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| Features of CHARGE syndrome |
Later childhood/adolescent issues* |
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| Major 4C's ** |
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| Ocular coloboma |
Coloboma -of iris, retina, choroid, disc; microphthalmia |
Photophobia; retinal detachment Corneal abrasions |
| Choanal atresia/stenosis |
Choanal atresia (or Cleft palate) – unilateral/bilateral, membranous/bony, stenosis/atresia |
Facial growth problems, recurrent closure and resurgeries, unilateral nasal discharge |
| Cranial nerve anomalies |
Cranial 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 |
Characteristic 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. |
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| Minor |
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| 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) |
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| Occasional*** |
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| 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 |
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* A premature aging phenomenom may exist in the older population, however, further research studies are required. ** Absent olfactory pathways and absent/abnormal semicircular canals are cardinal radiological findings for CHARGE syndrome. ***The occasional findings are more prevalent than originally predicted [8–9] | ||
Blake and Prasad Orphanet Journal of Rare Diseases 2006 1:34 doi:10.1186/1750-1172-1-34 |
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