CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
7q21.11,8q12.2
CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 214800.1 | Lebanon | Unknown | No | Neurodevelopmental delay; Microcephaly; ... Neurodevelopmental delay; Microcephaly; Micropenis; Hydronephrosis; Single umbilical artery; Leukodystrophy  | NM_017780.4:c.6112G>A | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 | ||
| 214800.2 | United Arab Emirates | Female | No | No | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Abnormal facial shape | NM_017780.3:c.7165-2A>G | Heterozygous | Saleh et al. 2021 | de novo mutation | |
| 214800.3 | United Arab Emirates | Male | No | No | Global developmental delay; Failure to t... Global developmental delay; Failure to thrive; Abnormal heart morphology | NM_017780.3:c.6609del | Heterozygous | Saleh et al. 2021 | de novo mutation |
Petkovska et al. (2007) carried out a retrospective analysis of children identified with congenital choanal atresia over a period of three years (2001-2004). Of the seven children thus identified, two were found to have clinical conditions fitting the criteria for CHARGE syndrome.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, two children were born with CHARGE Syndrome.
Ben Becher et al. (1994) reported the case of a 4 1/2 month-old boy who suffered from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal.