Charge syndrome is a rare genetic condition that affects many parts of the body, such as the eyes, ears, heart, nose, genitals, and nerves. The name charge is an acronym for the most common features of the syndrome:
Coloboma: A hole or gap in the eye that can affect vision and appearance.
Heart defects: Problems with the structure or function of the heart that can cause serious complications.
Atresia of the choanae: A blockage or narrowing of the nasal passages that can affect breathing and smell.
Restriction of growth and development: Delayed growth and development due to various factors, such as feeding difficulties, hormonal problems, or infections.
Genitourinary abnormalities: Problems with the formation or function of the genitals or urinary system, such as undescended testes, hypospadias, kidney anomalies, or urinary tract infections.
Ear and hearing anomalies: Problems with the structure or function of the ears that can cause hearing loss, balance problems, or facial paralysis.
In charge syndrome, a mutation or change occurs in the gene CHD7, which provides instructions for making a protein involved in the development of many organs and tissues. Charge syndrome occurs randomly during egg or sperm formation. In rare cases, it can be inherited from one parent who has a mutation in the CHD7 gene. Most cases of charge syndrome are not inherited.
According to which organ or tissue is affected by the mutation, charge syndrome symptoms vary from person to person. It is possible that some people may experience mild symptoms, while others may develop severe and life-threatening complications. Some of the possible symptoms of charge syndrome include:
Vision problems, such as nearsightedness, farsightedness, astigmatism, cataracts, glaucoma, or blindness.
Heart problems, such as abnormal heart rhythms, valve defects, or holes between the chambers of the heart.
Breathing problems, such as snoring, sleep apnea, frequent respiratory infections, or aspiration pneumonia.
Feeding problems, such as difficulty swallowing, reflux, vomiting, poor weight gain, or failure to thrive.
Hormonal problems, such as low thyroid function, growth hormone deficiency, diabetes insipidus, or hypogonadism.
Immune problems, such as frequent infections, allergies, or autoimmune diseases.
Skeletal problems, such as scoliosis, short stature, or joint abnormalities.
Facial problems, such as asymmetry, cleft lip or palate, small jaw, or facial nerve palsy.
Behavioral problems, such as autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, or depression.
Genetic testing confirms the mutation in the CHD7 gene as well as the presence of the characteristic features of charge syndrome to diagnose the condition. However, not all people with charge syndrome have a detectable mutation in the CHD7 gene, so the diagnosis may also be influenced by other factors, such as family history, medical history, or physical examination. The following tests may be performed to diagnose charge syndrome:
Eye examination, to check for coloboma, vision problems, or eye diseases.
Hearing test, to check for hearing loss, ear anomalies, or balance problems.
Cardiac evaluation, to check for heart defects, heart function, or heart rhythm problems.
Nasal endoscopy, to check for choanal atresia, nasal polyps, or sinusitis.
Genital examination, to check for genital anomalies, sexual development, or fertility problems.
Urinary tract ultrasound, to check for kidney anomalies, urinary tract infections, or bladder problems.
Hormone tests, to check for thyroid function, growth hormone levels, or diabetes insipidus.
Immune tests, to check for infection, allergy, or autoimmune disease.
Skeletal x-rays, to check for scoliosis, bone age, or joint abnormalities.
Facial imaging, to check for facial asymmetry, cleft lip or palate, or facial nerve palsy.
Behavioral assessment, to check for autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, or depression.
Charge syndrome cannot be cured, but treatment is aimed at managing its symptoms and preventing complications. Pediatricians, geneticists, cardiologists, otolaryngologists, ophthalmologists, endocrinologists, urologists, orthopedists, dentists, speech therapists, audiologists, nutritionists, psychologists, and educators may be involved in the treatment. Charge syndrome can be treated in a number of ways, including:
Surgery, to correct the heart defects, choanal atresia, cleft lip or palate, genital anomalies, or ear anomalies.
Medication, to treat the hormonal problems, immune problems, or behavioral problems.
Hearing aids, cochlear implants, or bone-anchored hearing devices, to improve the hearing loss or ear anomalies.
Glasses, contact lenses, or eye surgery, to improve the vision problems or eye diseases.
Feeding tube, gastrostomy, or fundoplication, to improve the feeding problems or reflux.
Hormone replacement therapy, to treat the growth hormone deficiency, hypothyroidism, or hypogonadism.
Immunoglobulin therapy, to treat the frequent infections or immune deficiency.
Physical therapy, occupational therapy, or orthotics, to improve the skeletal problems, joint abnormalities, or balance problems.
Speech therapy, to improve the speech and language development, swallowing problems, or facial nerve palsy.
Behavioral therapy, to improve the autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, or depression.
Educational support, to provide the appropriate learning environment, accommodations, or interventions.
Since charge syndrome is caused by a random mutation in the CHD7 gene, there is no way to prevent it. If a person has charge syndrome or has a family history, genetic counseling may be helpful to help them understand the risk of passing it on to their children or having another. If a family has a mutation in the CHD7 gene, prenatal testing may also be available to detect the condition before birth for some families.
