Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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January 5, 2017
CHARGE Syndrome
- Background:
- CHARGE is the acronym that describes the following features: Coloboma, Heart defects, Atresia (choanal), Retardation (mental), Genital hypoplasia, and Ear abnormalities.
- It is a syndrome first described by Halle and Hittner et al in 1979.
- The main chromosomes and genes involved in this syndrome are 8q12.1 (CHD7) and 7q21.11 (SEMA3E).
- Key Diagnostic Features:
- There are major and minor criteria (Blake’s update).
- Major criteria: coloboma, choanal atresia, ear abnormalities (small middle ear cavity, dysplastic or ankylosed ossicles, absence of semicircular canals, dysplastic modiolus, anomalous facial nerve course), and cranial nerve dysfunction (hyposmia or anosmia, facial palsy, vestibular dysfunction, swallowing difficulties)
- Minor criteria: cardiac malformations, genital hypoplasia, growth deficiency, developmental delay, distinct facial appearance, orofacial cleft, and tracheoesophageal fistula
- A CHARGE diagnosis is indicated by 4 major criteria or 3 major and 3 minor criteria.
- There are major and minor criteria (Blake’s update).
- Differential Diagnoses:
- Kallmann syndrome
- Incomplete partition type 1
- VACTERL association
- Treacher-Collins syndrome
- Treatment:
- Because surgery in the form of cochlear or brain stem implantation is currently one of the only treatment options for these patients, knowledge of aberrant facial nerve course, round window atresia, cochlear hypoplasia, and the status of the cochlear nerve are vital to successful treatment.
