16 CHARGE Association
Choanal atresia, posterior
Coloboma of the eye, heart anomaly, atresia choanae, retarded growth and development and/or CNS ano- malies, genital hypoplasia, ear abnormalities and/or deafness
Frequency: At least 250 cases reported. Male-to- female ratio 1 : 2
Genetics
Autosomal dominant (OMIM 214800); the gene locus maps at 8q12.1; most affected individuals have muta- tions involving the chromodomain helicase DNA- binding protein (CHD7, OMIM 608892)
Clinical Features
• Retarded growth postnatally
• Squared facies, asymmetrical face, malar flattening
• Pinched nostrils, choanal atresia posterior
• Eye coloboma (iris, choroid, retina, optic nerve), anophthalmia
• Cleft palate, micrognathia
• External ears anomalies, deafness
• Dysphagia, tracheoesophageal fistula
• Congenital heart defects
• Cryptorchidism, microphallus
• Mental retardation, facial palsy, dysphagia Differential Diagnosis
• VATER association
• Goldenhar syndrome
• Velo-cardio-facial syndrome
• Cat-eye syndrome
Radiographic Features Skull
• Choanal atresia (bilateral in 65% of cases)
• Malar hypoplasia Generalized Bone Defects
• Retarded bone age
Bibliography
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65: 217–23
Cyran SE, Martinez R, Daniels S, Dignan PS, Kaplan S. Spec- trum of congenital heart disease in CHARGE association.
J Pediatr 1987; 110: 576–80
Lin AE, Siebert JR, Graham JM. Central nervous system mal- formations in the CHARGE association. Am J Med Genet 1990; 37: 304–10
Oley CA, Baraitser M, Grant DB. A reappraisal of the CHARGE association. J Med Genet 1988; 25: 147–56
Siebert JR, Graham JM Jr, MacDonald C. Pathologic features of the CHARGE association: support for involvement of the neural crest. Teratology 1985; 31: 331–6
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, de Lonlay-Debeney P, Morisseau-Durand MP, Hubert P, Michell JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, Le Merrer M, Briard ML, Munnich A, Lyonnet S. CHARGE syndrome: Report of 47 cases and re- view. Am J Med Genet 1998; 76: 402–9
Vissers LE, van Ravenswaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, CHARGE syndrome. Nat Genet 2004; 36: 955–7
CHARGE Association 618
Fig. 16.1 a, b. Patient 1, 3 months.
Note a squared face, malar flatten- ing, micrognathia, mild degree of facial palsy, and b ear anomalies, including large pinnae, hypoplas- tic helix, and prominent antehelix
a b
