CHARGE syndrome
CHARGE syndrome is a rare genetic disorder that affects multiple body systems and organs. The name is an acronym for the set of unusual features seen in people with this condition: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities.
Pronunciation
CHARGE syndrome is pronounced as /ʧɑːrdʒ/ syndrome.
Etymology
The term "CHARGE" is an acronym that stands for the key features of this syndrome: Coloboma, Heart defects, Atresia choanae, Growth retardation, Genital abnormalities, and Ear abnormalities.
Symptoms
People with CHARGE syndrome often have several major characteristics or symptoms that are present from birth (congenital). These may include:
- Coloboma: A hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
- Heart defects: These can range from minor to severe, and often require surgical correction.
- Atresia choanae: A condition where the back of the nasal passage is blocked, often requiring surgery to correct.
- Growth retardation: Children with CHARGE syndrome often have difficulties with growth and development.
- Genital abnormalities: These can include undescended testicles in males and abnormalities of the uterus and vagina in females.
- Ear abnormalities: These can include small or absent external ears, hearing loss, and balance problems.
Causes
CHARGE syndrome is caused by mutations in the CHD7 gene. This gene provides instructions for making a protein that is involved in the organization of chromosomes and the regulation of gene expression.
Diagnosis
Diagnosis of CHARGE syndrome is based on clinical criteria, and can be confirmed by genetic testing to identify a mutation in the CHD7 gene.
Treatment
Treatment for CHARGE syndrome is symptomatic and supportive, and often involves a team of specialists. Interventions may include surgery to correct heart defects and atresia choanae, therapies for developmental delays, and management of other health problems.
See also
External links
- Medical encyclopedia article on CHARGE syndrome
- Wikipedia's article - CHARGE syndrome
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