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About CHARGE Syndrome

Taken from Chargesyndrome.org: 
 

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 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. 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.

Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with CHARGE syndrome overcome many of the obstacles in their lives.

One of the hidden features of CHARGE syndrome is the determination and strong character these children display.

History of the name “CHARGE”
The name “CHARGE” was a clever way (in 1981) to refer to a newly recognized cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we’re not changing the name.

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.

Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)

FEATURE INCLUDES FREQUENCY
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 80%-90%
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 90%

 

Minor Characteristics of CHARGE: Significant, but more difficult to diagnose or less specific to CHARGE

FEATURE INCLUDES FREQUENCY
Heart defects Can be any type, but many are complex, such as tetralogy of Fallot 75%
Cleft lip +/- cleft palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate 20%
TE fistula Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF 15-20%
Kidney abnormalities Small kidney, missing kidney, misplaced kidney, reflux 40%
Genital abnormalities Males: small penis, undescended testes
Females: small labia, small or missing uterusBoth: lack of puberty without hormone intervention
50%
25%90%
Growth deficiency Growth hormone deficiency 15%
Other short stature 70%
Typical CHARGE Face Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between the nostrils), flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy
Palm crease Hockey-stick palmar crease 50%
CHARGE Behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals >50%

 

Other Features of CHARGE: consistent with CHARGE, possibly medically significant, but less helpful in making a diagnosis

FEATURE INCLUDES FREQUENCY
Chronic ear problems Lots of infections, fluid in the ears, PE tubes until teens 85%
Sloping shoulders Underdeveloped shoulder muscles, small or missing pectoral muscles, short neck Common
Limb/skeletal Absent thumb, extra fingers, vertebral abnormalities ?
CNS abnormalities Hydrocephalus, seizures, abnormalities seen on MRI or CT Occasional
Thymus or parathyroid abnormality Small or missing thymus, decreased immune system Rare
Omphalocele Omphalocele or umbilical hernia 15%
Nipple anomalies Extra, missing or misplaced nipples Occasional
Hypotonia Low muscle tone 90%
Scoliosis Usually due to low muscle tone Common

 

No one feature is required to make a diagnosis of CHARGE. Every feature varies from severe to absent in different children.

All my CHARGE related posts can be found HERE.


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