From the Guidelines
CHARGE syndrome is a rare genetic disorder characterized by coloboma, heart defects, atresia of nasal choanae, retardation of growth and development, genitourinary anomalies, and ear anomalies, caused by mutations in the CHD7 gene, as defined in the most recent guidelines 1.
Key Features of CHARGE Syndrome
- Coloboma (eye defect)
- Heart defects
- Atresia choanae (blocked nasal passages)
- Retarded growth and development
- Genital abnormalities
- Ear abnormalities The diagnosis of CHARGE syndrome is based on clinical findings, with genetic testing confirming the CHD7 mutation in about 60-70% of cases, according to the european society for immunodeficiencies guidelines for the management of patients with congenital athymia 1.
Management and Treatment
Treatment for CHARGE syndrome focuses on managing specific symptoms through a multidisciplinary approach, including:
- Surgical interventions for heart defects or choanal atresia
- Hearing aids or cochlear implants for hearing loss
- Vision correction
- Feeding support
- Developmental therapies Each patient requires an individualized care plan due to the variable presentation of the syndrome, as emphasized in the guidelines 1.
Prognosis and Outcome
The prognosis for CHARGE syndrome varies widely depending on the severity of features, with some individuals leading relatively independent lives while others require lifelong support, highlighting the importance of early intervention and regular follow-up with specialists to monitor and address complications as they arise throughout the patient's life 1.
From the Research
Definition and Characteristics of CHARGE Syndrome
- CHARGE syndrome is a rare congenital condition with multiple malformations, characterized by the acronym CHARGE, which summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital anomalies, and Ear anomalies/deafness 2, 3, 4, 5.
- The syndrome is caused by pathogenic variants in the CHD7 gene and clinically characterized by a wide range of anomalies with variable expression 4, 5.
- The estimated incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 births, depending on professional recognition 2, 3.
Clinical Features and Malformations
- Coloboma mainly affects the retina, and choanal atresia may be membranous or bony, bilateral or unilateral 2, 3.
- Major and minor congenital heart defects occur in 75-80% of patients, with tetralogy of Fallot being the most common cyanotic heart defect 3.
- Mental retardation is variable, with intelligence quotients (IQ) ranging from normal to profound retardation 2, 3.
- Under-development of the external genitalia is a common finding in males, but less apparent in females 3.
- Ear abnormalities include unusually shaped ears and hearing loss, which can be conductive and/or nerve deafness, ranging from mild to severe deafness 2, 3.
Diagnosis and Management
- CHARGE syndrome is primarily a clinical diagnosis, and CHD7 analysis can be helpful in the diagnostic process, but the phenotype cannot be predicted from the genotype 5.
- A multidisciplinary approach is necessary for the management of CHARGE syndrome, including medical follow-up, surgical interventions, and rehabilitation services 2, 3, 4.
- Cochlear implantation can be an effective option for hearing rehabilitation in children with CHARGE syndrome, regardless of the extent of inner ear anomalies and intellectual faculties 6.