CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.
Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication.
Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)
Coloboma of the eye: Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS
Choanal atresia or stenosis The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.Unilateral atresia or stenosis can be difficult to diagnose 50%-60%
Cranial nerve abnormality
I - Missing or decreased sense of smell 90-100%
IX/X - Swallowing difficulties, aspiration 70%-90%
VII - Facial palsy (one side or both) 40%
CHARGE outer ear- Short, wide ear with little or no lobe, "snipped off" helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric - >50%
CHARGE middle ear- Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS Common
CHARGE inner ear- Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS
Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.
All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.
Our son Burke was born with CHARGE syndrome. In the past 6 years of his life, he's undergone 8 surgeries and had multiple long term hospitalizations. Burke is a courageous, tenacious and loving little boy who has undeniably surpassed all expected "outcomes" that he was given along with his diagnosis of CHARGE syndrome. When Burke was 3 yrs old, we welcomed identical twin boys, Levi and Judah into our family. We are a bit crazy but have lots of support cause we need it!
Contributed by MOM Christina Nelsa