What causes CHARGE syndrome?
The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12. 2 where the CHD7 gene is located. Among 119 French children with CHARGE syndrome, CHD7 mutations were found in 83% of typical CHARGE syndrome individuals, and 58% of atypical cases.
Is CHARGE syndrome an intellectual disability?
While developmental delays are common, involvement in physical, occupational, and speech therapies will assist many children with CHARGE syndrome in reaching their developmental potential. Some individuals with CHARGE may be diagnosed with an intellectual disability, but many will not.
What does the G stand for in Charge?
G – Genital and/or urinary defects (hypogonadism, undescended testicles, besides hypospadias)
What are the signs and symptoms of CHARGE syndrome?
Signs and symptoms of CHARGE syndrome
- a slit or groove in one of the structures of the eye (coloboma of the eye), like the iris or retina, which causes vision loss.
- blocked nasal passages (choanal atresia)
- central nervous system (brain and spinal cord) problems.
- malformed ears, which can cause hearing loss.
- short stature.
What is the life expectancy of CHARGE syndrome?
Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis).
How is CHARGE syndrome inherited?
When CHARGE syndrome is caused by mutations in the CHD7 gene, it follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What’s the life expectancy for someone with CHARGE syndrome?
Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis). 1,2 The death rate is the highest in the first year of life.
How is CHARGE syndrome diagnosed?
CHARGE syndrome is diagnosed by carrying out a full physical examination and noting that several of the main symptoms listed above are present.
Who are some famous people with CHARGE syndrome?
Notable people with coloboma include the late actor John Ritter, model/actress Karolina Wydra , The New York Times columnist Andrew Ross Sorkin , tennis player Arnaud Clément, pop singer songwriter Lachi, and George Soros. Madeleine McCann , a young girl who went missing in Portugal in 2007, also has the condition.
What is the history of CHARGE syndrome?
CHARGE syndrome. First described in 1979, the acronym “CHARGE” came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.
What is the prevalence of CHARGE syndrome?
CHARGE syndrome is a rare disorder, affecting 0.1-1.2/10,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE than those described in the medical literature.