What is CHARGE (Coloboma, Heart defect, Atresia choanae, Restricted growth and development, Genital abnormality, Ear abnormality) syndrome?

From the Guidelines

CHARGE syndrome is a rare genetic disorder characterized by multiple congenital anomalies, including coloboma, heart defects, atresia choanae, restricted growth and development, genital abnormalities, and ear abnormalities, requiring lifelong multidisciplinary care to improve outcomes and quality of life. The key features of CHARGE syndrome are summarized by the acronym CHARGE:

• C - Coloboma (eye defect)
• H - Heart defects
• A - Atresia choanae (blocked nasal passages)
• R - Retarded growth and development
• G - Genital abnormalities
• E - Ear abnormalities and deafness Management of CHARGE syndrome focuses on addressing each affected system, including:

1. Eye care: Regular ophthalmology check-ups, possible corrective lenses or surgery
2. Cardiac care: Surgical repair of heart defects if present
3. ENT care: Surgical correction of choanal atresia, hearing aids or cochlear implants if needed
4. Developmental support: Early intervention, special education, physical/occupational/speech therapy
5. Endocrine management: Hormone replacement if needed
6. Feeding support: G-tube placement if severe feeding difficulties According to the most recent study 1, CHARGE syndrome is often caused by mutations in the CHD7 gene and is typically diagnosed through genetic testing. Another study 1 also highlights the importance of early diagnosis and intervention in improving outcomes and quality of life for individuals with CHARGE syndrome. Early diagnosis and intervention are crucial for improving outcomes and quality of life for individuals with CHARGE syndrome, and genetic counseling is important for families to understand the condition and its management.

From the Research

Definition and Characteristics of CHARGE Syndrome

• CHARGE syndrome is a complex genetic disorder causing multiple birth defects and sensory deficits, including hearing, vision, balance, and smell 2.
• It is characterized by a range of tissues and systems affected by mutations in the CHD7 gene 3.
• The syndrome affects multiple organ systems and can lead to various abnormalities, including coloboma, choanal atresia, semicircular canal anomalies, cranial nerve anomalies, genital, ear, eye, and cardiovascular abnormalities 2, 4.

Diagnosis and Clinical Features

• Diagnosis of CHARGE syndrome is largely clinical, with genetic testing available to confirm the presence of a CHD7 gene mutation 4, 5.
• The syndrome should be considered in patients with any of the major diagnostic features, including coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies 2.
• Clinical features of CHARGE syndrome can vary widely, but may include vision and hearing impairments, delayed growth and development, heart abnormalities, and artesia/stenosis of the choanae 6.

Management and Outcomes

• Management of CHARGE syndrome requires a multidisciplinary approach, including genetic counseling, referral to specialists in deafblindness and sensory deficits, and assistance with psychosocial adaptation 2.
• Early diagnosis and aggressive management can help reduce morbidity and prevent mortality in individuals with CHARGE syndrome 4.
• Despite the complexity of the condition, behavior analytic approaches have been shown to be effective in addressing feeding difficulties in children with CHARGE syndrome 6.
• Individuals with CHARGE syndrome may experience a range of complications, including pneumonia, aspiration, secretion management, and motility issues, which can greatly impact their quality of life 5.