How common is 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.

What is the life expectancy of a child with CHARGE syndrome?

Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis).

How does a child get CHARGE syndrome?

Mutations in the CHD7 gene cause most cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes.

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.

Is CHARGE syndrome a developmental disability?

Most children with CHARGE syndrome experience some degree of development disability related to the dual sensory impairment of deaf blindness.

Is CHARGE syndrome related to autism?

Children born with CHARGE syndrome, especially those with intellectual disabilities are at risk of ASD, which has to be evaluated and treated early. Children with CS with brain malformations responsible for late independent walking and with severe visual deficits are at risk of adaptive functioning impairment.

What organ systems are affected because of CHARGE syndrome?

CHARGE syndrome (OMIM #214800) is a congenital disorder that affects several organ systems with variable severity and includes coloboma of the eye, heart anomalies, atresia of choanae (nasal passages), retardation of mental and genital development, ear anomalies and/or deafness (Pagon et al., 1981).

Can CHARGE syndrome be passed down?

Is CHARGE syndrome inherited? CHARGE syndrome is usually not inherited, typically occurring due to a new (de novo) gene mutation in the affected individual. However, rare familial cases inherited in an autosomal dominant manner have been described.

What is the risk of CHARGE syndrome in children?

If a parent of an affected child also has CHARGE syndrome, the risk for each sibling to inherit the condition is 50%. If neither parent is affected, the risk to each sibling of an affected child is estimated to be 1%-2%, most likely attributable to germline mosaicism.

What is infant mortality rate?

About Infant Mortality Infant mortality is the death of an infant before his or her first birthday. The infant mortality rate is the number of infant deaths for every 1,000 live births. In addition to giving us key information about maternal and infant health, the infant mortality rate is an important marker of the overall health of a society.

What is CHARGE syndrome?

CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for c oloboma, h eart defect, a tresia c hoanae (also known as choanal atresia), r estricted growth and development, g enital abnormality, and e ar abnormality.

How many babies die in the United States each year?

Almost 21,000 infants died in the United States in 2018. The five leading causes of infant death in 2018 were: Birth defects. Preterm birth and low birth weight. Injuries (e.g., suffocation). Sudden infant death syndrome. Maternal pregnancy complications. View the Infant Mortality Rates by State Map from the National Center for Health Statistics.