What Is Charge syndrome
Charge syndrome is characterized by mutation on the chromodamain helicase DNA binding protein-7 (CHD7) gene. The syndrome is a genetic disorder with an autosomal dominant pattern.
The term “CHARGE’ refers to the non random association of Colobama, Heart defects and disorders, Choanal atresia, growth and developmental Retardation, Genital defects and Ear anomalies. The combination of these anomalies is frequently present in a person suffering from the condition, but the manifestation may vary in intensity.
Since there is no single feature of the Charge Syndrome that is universally present in all cases, various guidelines have been designed to assist physicians in making a rightful clinical diagnosis.
An Overview of Charge Syndrome
A guideline provided by Blake and others indicates that presence of four major features or presence of three major features with three minor features is essential to diagnose an individual of Charge disease.
The major features include,
•Ocular colobama or micropthalmia, which is characterized by small cornea, small eyes and elevated intraocular pressure.
•Choanal atresia or stenosis, which is characterized by partial or complete blockage of the posterior portion of the nasal passage
•Abnormalities of the cranial nerves
•Auditory or auricular abnormalities
The minor features include congenital cardiac defects (often in the form of septal defects), facial dsymorphology, clefting, tracheoesophageal fistula (a connection between the wind pipe and the food pipe), short stature, deafness, dysphasia (difficulty in swallowing), genitourinary abnormalities and hypotonia.
Incidence of Charge Syndrome
Estimated incidence of the Charge syndrome is one in 8,500 to 12,000 live births, with high mortality during the early days of infancy. The mortality associated with the condition is high and is often associated with risk of aspiration, complex cardiac disease, esophageal atresia or abnormalities of the central nervous system.
The condition affects individuals of all races and since it is an autosomal dominant disorder, it is not sex linked disorder and is found in females and males with equal frequency. Often, the diagnosis of the condition is made during the prenatal period due to presence of several congenital anomalies.
It is very crucial for families of patients suffering from Charge Syndrome to be adequately educated about the disease condition, its manifestation and complications. Genetic counseling also plays a crucial role in individuals with affected offspring since the risk of recurrence of similar defect in the offspring is as high as 50 % in affected parents.
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