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CHARGE syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

CHARGE syndrome

CHARGE syndrome is a complex genetic disorder affecting multiple body systems, named for a specific pattern of common malformations including eye, heart, and ear abnormalities.

Overview

CHARGE is an abbreviation for a set of common features: coloboma, heart defects, atresia choanae, retardation of growth, genital abnormalities, and ear abnormalities. The severity and combination of these features vary significantly between individuals.

Major Characteristics

  • Coloboma: A gap or hole in eye structures, which may impair vision.
  • Atresia Choanae: Narrowing or complete blockage of the nasal passages, causing breathing difficulties.
  • Cranial Nerve Abnormalities: Can lead to swallowing problems, facial paralysis, diminished or absent sense of smell (hyposmia or anosmia), and hearing loss.
  • Ear Abnormalities: Often contribute to hearing loss and balance issues.

Minor Characteristics

  • Heart defects.
  • Slow growth starting in late infancy.
  • Delayed motor skill development.
  • Cleft lip or palate.
  • Hypogonadotropic hypogonadism: Affects sexual development, often resulting in micropenis or undescended testes in males.
  • Tracheoesophageal fistula: An abnormal connection between the esophagus and trachea.
  • Distinctive facial features, such as a square-shaped face and facial asymmetry.

Causes

Most cases are caused by mutations in the CHD7 gene. This gene produces a protein involved in chromatin remodeling, a process that packages DNA into chromosomes and regulates gene expression during embryonic development. A shortage of this protein disrupts normal development, leading to the syndrome's features.

Inheritance

CHARGE syndrome follows an autosomal dominant pattern of inheritance, meaning one copy of the altered gene is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene and occur in people with no family history of the condition.

Frequently Asked Questions

Because cranial nerve dysfunction frequently impairs the suck-and-swallow reflex, infants face a high risk of pulmonary aspiration. Management typically requires an initial videofluoroscopic swallow study, temporary nasogastric feeding, or the placement of a gastrostomy tube (G-tube) to ensure safe caloric intake while working alongside specialized speech and feeding therapists.
Many children have varying degrees of both hearing and vision loss, requiring classification and support as deafblind. Early intervention teams usually implement tactile sign language, object cues, and individualized education programs (IEPs) that accommodate sensory processing delays, allowing children to develop cognition and language despite dual sensory deficits.
Because most cases result from a spontaneous (de novo) mutation, the recurrence risk for unaffected parents is generally estimated at 1 to 2 percent. This small residual risk is primarily due to germline mosaicism, where the genetic mutation is present in a proportion of the mother's eggs or father's sperm without affecting the rest of their body.
Most children with CHARGE syndrome have malformations of the semicircular canals in the inner ear, which severely impairs the vestibular system responsible for balance. When combined with vision loss and low muscle tone, gross motor milestones like sitting and walking are delayed. Physical therapy focuses on sensory integration, core strengthening, and teaching compensatory strategies using proprioception.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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