CHARACTERISTICS AND DIAGNOSIS DECISION MAKING PROCESS OF CHARGE
CHARGE syndrome is associated with a very wide range of characteristics. This specific syndrome affects many areas of the body. Each individual varies in which characteristics they possess and in the severity of the case. Characteristics and diagnostic decision-making have been grouped together because the diagnosis depends on the physical characteristics the individual holds.
Characteristics of CHARGE are split up into two categories. The first category includes the four major characteristics that are common to CHARGE syndrome and uncommon to others. The major characteristics are beneficial to rule out other syndromes (Hafter, 1999). As stated on the CHARGE Syndrome Foundation official website,
“Coloboma of the eye is the first symptom of CHARGE syndrome. Coloboma is a hole in one or both eyes that causes vision loss. Other symptoms of the eye are microphthalmos (small eye) or anophthalmos (missing eye). Secondly, choanal atresia and choanal stenosis are major characteristics used to determine the diagnosis. This is a narrowing or blockage of the posterior nasal passage. The third major characteristic is an abnormality of cranial nerves I, IX, and X. This consists of decreased smell, difficulty swallowing, or aspiration (breathing in foreign objects). And lastly, the fourth major characteristic is ear abnormalities. Ear abnormalities include asymmetry, short, and wide appearance. Also, malformation of ossicles (bones of middle ear) can occur causing conduction hearing loss. Cochlea and semicircular canals are malformed causing hearing loss and balance problems,” (“About CHARGE,” n.d.).
The major characteristics of CHARGE syndrome are the most beneficial way to make a diagnosis.
Less specific characteristics of CHARGE syndrome make up the minor characteristics. Minor characteristics are less specific to the syndrome because they are seen in other syndromes as well and they are less apparent in infancy. “This list of characteristics includes, heart defects, cleft lip and/or palate, submucous cleft, Tracheoesophageal fistula (abnormal connection between trachea and esophagus), kidney abnormalities, genital abnormalities, growth deficiencies, and palm crease (hockey-stick crease), repetitive and OCD behavior, and typical facial appearance,” (“About CHARGE,” n.d.). Minor characteristics are also important in the diagnosis process.
CHARGE syndrome is associated with a very wide range of characteristics. This specific syndrome affects many areas of the body. Each individual varies in which characteristics they possess and in the severity of the case. Characteristics and diagnostic decision-making have been grouped together because the diagnosis depends on the physical characteristics the individual holds.
Characteristics of CHARGE are split up into two categories. The first category includes the four major characteristics that are common to CHARGE syndrome and uncommon to others. The major characteristics are beneficial to rule out other syndromes (Hafter, 1999). As stated on the CHARGE Syndrome Foundation official website,
“Coloboma of the eye is the first symptom of CHARGE syndrome. Coloboma is a hole in one or both eyes that causes vision loss. Other symptoms of the eye are microphthalmos (small eye) or anophthalmos (missing eye). Secondly, choanal atresia and choanal stenosis are major characteristics used to determine the diagnosis. This is a narrowing or blockage of the posterior nasal passage. The third major characteristic is an abnormality of cranial nerves I, IX, and X. This consists of decreased smell, difficulty swallowing, or aspiration (breathing in foreign objects). And lastly, the fourth major characteristic is ear abnormalities. Ear abnormalities include asymmetry, short, and wide appearance. Also, malformation of ossicles (bones of middle ear) can occur causing conduction hearing loss. Cochlea and semicircular canals are malformed causing hearing loss and balance problems,” (“About CHARGE,” n.d.).
The major characteristics of CHARGE syndrome are the most beneficial way to make a diagnosis.
Less specific characteristics of CHARGE syndrome make up the minor characteristics. Minor characteristics are less specific to the syndrome because they are seen in other syndromes as well and they are less apparent in infancy. “This list of characteristics includes, heart defects, cleft lip and/or palate, submucous cleft, Tracheoesophageal fistula (abnormal connection between trachea and esophagus), kidney abnormalities, genital abnormalities, growth deficiencies, and palm crease (hockey-stick crease), repetitive and OCD behavior, and typical facial appearance,” (“About CHARGE,” n.d.). Minor characteristics are also important in the diagnosis process.