CHARGE syndrome Q87.8

CHARGE stands for "Chonal Atresia, Retardation, Genital and Ear Anomalies". CHARGE syndrome is caused by a heterozygous mutation in the CHD7 gene (608892) on chromosome 8q12.

There is also evidence that the same phenotype is also caused by a mutation in the semaphorin 3E gene (SEMA3E; 608166) on chromosome 7q21. CHARGE syndrome. It is an allelic disorder with a less severe but overlapping phenotype.

Writzl et al (2007) reported on two unrelated infants with genetically confirmed CHARGE syndrome who had lymphopenia with almost absent T cells. Both patients had signs of hypocalcemia and hypothyroidism. One of them had a hypoplastic thymus. Both patients died within the first month of life. Cross-sectional analysis of patients with this mutation revealed that most of these patients had a T-cell-specific defect and thymic aplasia or hypoplasia with poor proliferative response; some had low Ig levels, indicating a humoral defect. Writzl et al (2007) pointed out the T-cell defect in these patients.

Van de Laar et al. (2007) reported three unrelated patients with several major features of CHARGE syndrome who also had limb abnormalities, including monodactyly, tibia aplasia, and bifid femora.

Alazami et al (2008) reported a girl with CHARGE syndrome as well as coloboma, patent ductus arteriosus, choanal atresia, growth retardation, psychomotor retardation, and hearing loss and ear dysplasia. Furthermore, she had dysmorphic facial features as well as a clubfoot deformity on the right side, agenesis of the right tibia.

1. Alazami AM et al (2008) Expanding the 'E' in CHARGE. (Letter) Am J Med Genet 146A: 1890-1892.
2. Kallen K et al (1999) CHARGE association in newborns: a registry-based study. Teratology 60: 334-343.
3. Van de Laar I et al (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet 143A: 2712-2715.
4. Wheeler PG et al (2000) Hypogonadism and CHARGE association. Am J Med Genet 94: 228-231.
5. Writzl K et al (2007) Immunological abnormalities in CHARGE syndrome. Europ J Med Genet. 50: 338-345.