What is CHARGE syndrome caused by?
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 is the most common heart defect in CHARGE syndrome?
Although all types of heart defects have been seen in children with CHARGE syndrome, the most common are tetralogy of Fallot (33%), VSD (ventricular septal defect), AV (atriventricular) canal defect, and aortic arch anomalies.
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 are the characteristics of CHARGE syndrome?
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss.
How do you diagnose CHARGE syndrome?
CHARGE syndrome is diagnosed by looking at a child’s medical features. Genetic testing can confirm a diagnosis….Other possible physical signs include:
- low muscle tone.
- skeletal abnormalities.
- cleft lip or cleft palate.
- heart defects.
- genital and/or urinary abnormalities.
Is CHARGE syndrome related to autism?
Abstract. Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism.
Is there a cure for CHARGE syndrome?
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 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).