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.

What type of disorder is CHARGE syndrome?

Description. 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.

Is CHARGE syndrome a neurological disease?

CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioural disorders for which no treatment is currently available. Dr.

Is CHARGE syndrome a birth defect?

CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in each 150,000 births worldwide.

What is CHARGE syndrome life expectancy?

What is the Life Expectancy for CHARGE Syndrome? The death rate for children with CHARGE syndrome is highest in the first year of life and typically occurs in infants with severe birth defects. There is a 70% 5-year survival rate for patients with CHARGE syndrome, meaning, 70% of those diagnosed are alive in 5 years.

CHARGE Syndrome: An Overview

Does CHARGE syndrome affect the brain?

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. A neurologist may order brain imaging such as MRI or CT scan to look for possible structural brain anomalies.

Is CHARGE syndrome curable?

In about half of all children with CHARGE, these passages may be blocked (atresia) or narrowed (stenosis). Among 12 patients with bilateral choanal atresia, 10 had related malformations, 3 of which had CHARGE syndrome. Surgery can often correct these defects.

How does a child get CHARGE syndrome?

Disease at a Glance

CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality.

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.

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 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.

Can 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.

Does CHARGE syndrome affect growth?

Growth retardation affects 60–72% of children with CHARGE syndrome, making it one of the most prominent medical issues in the syndrome.