A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities
Symptoms of CHARGE Syndrome
The following features are indicative of CHARGE Syndrome:
coloboma
heart defect
atresia choanae
restricted growth and development
genital abnormality
ear abnormality
It is possible that CHARGE Syndrome shows no physical symptoms and still is present in a patient.
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Common Causes of CHARGE Syndrome
The following are the most common causes of CHARGE Syndrome:
genetic mutations
Risk Factors for CHARGE Syndrome
The following factors may increase the likelihood of CHARGE Syndrome:
mutations in the CHD7 gene
Prevention of CHARGE Syndrome
Yes, it may be possible to prevent CHARGE Syndrome. Prevention may be possible by doing the following:
talk to a genetic counselor if the family member has Alport's Syndrome to understand chances of having the disease in future
Occurrence of CHARGE Syndrome
Number of Cases
The following are the number of CHARGE Syndrome cases seen each year worldwide:
Extremely rare less than 1000 cases
Common Age Group
CHARGE Syndrome most commonly occurs in the following age group:
At birth
Common Gender
CHARGE Syndrome can occur in any gender.
Lab Tests and Procedures for Diagnosis of CHARGE Syndrome
The following lab tests and procedures are used to detect CHARGE Syndrome:
Physical examination: To check the major and minor features of charge Syndrome
Doctor for Diagnosis of CHARGE Syndrome
Patients should visit the following specialists if they have symptoms of CHARGE Syndrome:
Pediatrician
Ophthalmologist
Audiologist
Endocrinologist
Cardiologist
Urologist
Radiologist
Geneticist
Physiotherapist
Occupational therapist
Speech therapist
Orthopedic specialist
Complications of CHARGE Syndrome if untreated
Yes, CHARGE Syndrome causes complications if it is not treated. Below is the list of complications and problems that may arise if CHARGE Syndrome is left untreated:
birth defect
Procedures for Treatment of CHARGE Syndrome
The following procedures are used to treat CHARGE Syndrome:
Surgery: To correct the birth defect
Physical therapy: Helps to improve posture and communication skills
Occupational or educational therapy: Helps to improve symptoms of Charge
Syndrome Speech therapy: To improve types of communication problems
Patient Support for Treatment of CHARGE Syndrome
The following actions may help CHARGE Syndrome patients:
Genetic counselling: Genetic counselling may be of benefit for affected individuals and their families
Last updated date
This page was last updated on 2/04/2019.
This page provides information for CHARGE Syndrome.