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.

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