🧬 Genetic Disorder

CHARGE Syndrome

Also known as: Hall-Hittner Syndrome, Coloboma, Heart Defects, Choanal Atresia, Retarded Growth and Development, Genital Hypoplasia, and Ear Anomalies

CHARGE syndrome is a rare, complex genetic disorder characterized by a specific pattern of congenital anomalies. The acronym CHARGE stands for Coloboma, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. However, not every child with CHARGE syndrome has all of these features. The severity and combination of features can vary significantly among affected individuals.

ICD-10: Q87.0 Orphanet: 128 OMIM: 214800
👥 1 in 8,500 to 1 in 10,000 live births Prevalence
🔬 25 Active Trials

Imagine a puzzle where some important pieces are missing. CHARGE syndrome is like that, but instead of puzzle pieces, it's about missing or not-quite-right parts of the body, like the eyes, heart, nose, ears, and private parts. It can make it hard to see, hear, breathe, grow, and learn.

Signs & Symptoms

  • Coloboma (eye defect)
  • Heart defects (e.g., tetralogy of Fallot, atrial septal defect)
  • Choanal atresia (blocked nasal passages)
  • Growth retardation
  • Developmental delay
  • Genital hypoplasia (in males)
  • Ear anomalies (e.g., abnormal shape, hearing loss)
  • Cranial nerve dysfunction
  • Swallowing difficulties
  • Facial palsy
  • Tracheoesophageal fistula
  • Cognitive impairment

Treatment Options

SURGERY FDA Approved

Surgical repair of heart defects

HIGHLY EFFECTIVE
SURGERY FDA Approved

Surgical repair of choanal atresia

HIGHLY EFFECTIVE
SUPPORTIVE FDA Approved

G-tube feeding (for swallowing difficulties)

HIGHLY EFFECTIVE
SUPPORTIVE FDA Approved

Hearing aids or cochlear implants (for hearing loss)

HIGHLY EFFECTIVE
THERAPY

Physical therapy

MODERATELY EFFECTIVE
THERAPY

Occupational therapy

MODERATELY EFFECTIVE
THERAPY

Speech therapy

MODERATELY EFFECTIVE
MEDICATION FDA Approved

Hormone replacement therapy (for genital hypoplasia)

MODERATELY EFFECTIVE

Diagnosis

  • Clinical evaluation based on characteristic features
  • Genetic testing (CHD7 gene sequencing)
  • Echocardiogram (for heart defects)
  • CT scan or MRI (for choanal atresia and other structural anomalies)
  • Hearing tests (audiometry)
  • Ophthalmologic examination (for coloboma)

History

CHARGE syndrome was first described as a distinct entity in the late 1970s and early 1980s. The acronym CHARGE was proposed by Pagon et al. in 1981 to describe the constellation of findings. The identification of CHD7 as the major causative gene in 2004 significantly advanced our understanding of the syndrome's etiology.

Recent Breakthroughs

2022

Improved Diagnostic Criteria for CHARGE Syndrome

Refined diagnostic criteria have been proposed to improve the accuracy and efficiency of CHARGE syndrome diagnosis, particularly in cases with atypical presentations.

2023

Longitudinal Study of Cognitive and Behavioral Outcomes in CHARGE Syndrome

A longitudinal study revealed insights into the cognitive and behavioral profiles of individuals with CHARGE syndrome, highlighting the importance of early intervention and individualized educational plans.