CHARGE Syndrome
Description
CHARGE syndrome is a rare genetic disorder that affects multiple parts of the body, often causing a range of physical and developmental challenges. This complex condition can impact hearing, vision, heart, facial features, and other areas. Understanding CHARGE syndrome is crucial for early diagnosis, proper management, and empowering individuals with this condition to live fulfilling lives.
Genes Involved
CHARGE syndrome is primarily caused by mutations in the CHD7 gene. However, other genes may also play a role in some cases.
Recognizing the Signs and Symptoms
Recognizing CHARGE syndrome can be challenging as its symptoms vary widely. Some common signs include:
- Coloboma: A gap or hole in the eye, often affecting the iris or optic nerve
- Heart defects: Congenital heart problems, such as tetralogy of Fallot or ventricular septal defects
- Atresia of choanae: Blockage of the nasal passages, leading to difficulty breathing
- Retarded growth and development: Delayed physical growth and developmental milestones
- Genital abnormalities: Urogenital anomalies, such as hypospadias in males
- Ear abnormalities: Malformed ears, hearing loss, and balance issues
- Facial features: Characteristic facial features, such as a prominent forehead, wide-set eyes, and a small chin
Individuals with CHARGE syndrome may experience varying degrees of severity in these symptoms.
Causes
CHARGE syndrome occurs due to genetic mutations. The majority of cases are caused by mutations in the CHD7 gene, which plays a vital role in embryonic development. These mutations are typically spontaneous, meaning they are not inherited from parents. In rare cases, CHARGE syndrome can be inherited in an autosomal dominant pattern, where a single copy of the mutated gene is sufficient to cause the condition.
Inheritance/recurrence risk
While the majority of cases are not inherited, there is a small risk of recurrence in families with a history of CHARGE syndrome. If one parent carries the CHD7 gene mutation, there is a 50% chance of passing it on to their child. Genetic counseling is recommended for families with a history of CHARGE syndrome to discuss the risk of recurrence and available testing options.
