CHARGE syndrome

What is CHARGE syndrome?

CHARGE syndrome is a genetic disorder that usually presents with a variety of birth defects.

The disorder is rare and not always easy to diagnose as symptoms may vary widely between individuals. Clinical criteria was established in 2005, the absence of a specific gene, responsible for the syndrome, for many years complicated the diagnosis.

CHARGE syndrome is characterized by symptoms that affect the central nervous system, as well as the eyes, nose, and ears.

What gene changes cause CHARGE syndrome?

The syndrome is caused by mutations in the CHD7 gene. It is usually caused by a new mutation. A second gene, SEMA3E, is under investigation as a cause of the syndrome. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of CHARGE syndrome?

The main symptoms of the syndrome, and from which the syndrome derives its name, are:

Coloboma: a slit in the iris or retina that may lead to vision loss
Cranial nerve abnormalities: issues with the connection between the nose and throat
Choanal Atresia: a blockage in the back of an individual’s nose that can make breathing difficult.
Heart defects
Genital abnormalities

Physical features of the syndrome include asymmetrical facial palsy, short and wide ears with little or no earlobe, small thumbs and fingers, and upper body hypotonia.

Other symptoms may include a cleft palate, issues with balance, kidney health concerns and intellectual disability. As well as, rhombencephalic abnormalities, hypothalamo-hypophyseal dysfunction, external/middle ear malformations, mediastinal visceral malformations, and mental retardation.

How does someone get tested for CHARGE syndrome?

The initial testing for CHARGE syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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