What does CHARGE syndrome affect?

What does CHARGE syndrome affect?

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.

Can children with CHARGE syndrome talk?

About 60% of children with CHARGE acquire symbolic language and communicate with spoken language, signs, and/or visual symbols. The mechanics of speech may be affected by craniofacial anomalies, breathing problems, and clefts.

Does CHARGE syndrome affect lifespan?

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.

Is CHARGE syndrome a rare disease?

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.

Is CHARGE syndrome common?

How does a child get CHARGE syndrome?

The symptoms of CHARGE syndrome vary greatly from one child to another. The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.

How is CHARGE syndrome treated?

Babies born with CHARGE syndrome are often cared for in a specialist center staffed by pediatric otolaryngologists and other medical specialists. Doctors perform surgery to correct life-threatening abnormalities as soon as possible after birth. Babies may also receive hormone therapy to correct genital abnormalities.

What causes a person to have CHARGE syndrome?

Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. The cause is unknown in these individuals, but researchers suspect that other genetic and/or environmental factors may be involved.

How does CHD7 affect the development of CHARGE syndrome?

Shortage of this protein is thought to disrupt chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. A small percentage of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene.

Can a child be diagnosed with CHARGE syndrome?

Children can also have genetic testingfor CHARGE syndrome. In most cases, genetic testing confirms the CHARGE diagnosis. CHARGE syndrome isn’t always easy to diagnose. It’s rare, and its signs and symptoms can also look like the signs and symptoms of other similar conditions. Early intervention services for children with CHARGE syndrome

How does the DiGeorge sequence affect CHARGE syndrome?

DiGeorge sequence, which consists of complex heart defects, immunodeficiency and abnormalities of the thyroid and parathyroid glands, may occur in CHARGE syndrome, with 72% manifesting hypocalcemia and 60% demonstrating lymphopenia. Some children with CHARGE appear to have poor immune responses to infections.