What do the letters in CHARGE syndrome mean?

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.

Is CHARGE syndrome life-threatening?

Babies born with CHARGE syndrome may have severe and life-threatening birth defects.

What are the 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), which causes breathing problems.
• no sense of smell (anosmia)
• difficulty swallowing, which causes feeding problems.

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.

Does CHARGE syndrome affect the brain?

Cranial nerve anomalies are very frequent in CHARGE. Structural brain anomalies: A variety of structural malformations of the brain have been reported in children with CHARGE. Pretty much any brain anomaly is consistent with CHARGE; none are extremely common.

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.

How long can a child live 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.

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).

How do you test for CHARGE syndrome?

Gene sequencing for CHARGE syndrome is a procedure that reads the instructions (DNA) that makes up the CHD7 gene. This test, which is performed on a sample of blood, is a way to identify the presence of mutations in the CHD7 gene, which can help a doctor2: Confirm a diagnosis of CHARGE syndrome.

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

Do kids with CHARGE syndrome walk?

The average age of walking is about 3 or 4 years in children with CHARGE syndrome, and this results from the combination of hypotonia and diminished balance due to their underdeveloped semicircular canals. Children with CHARGE syndrome often look similar to one another.

How does CHARGE syndrome affect vision?

Children with CHARGE often have vision impairments due to colobomas. Most children with colobomas have a visual field loss, typically in the superior (upper) field. There may be blind spots and acuity problems in addition to the visual field loss.