CHARGE Syndrome is an unusual chromosomal ailment that affects newborns and triggers numerous physical problems. It is also called as Hall-Hittner Syndrome or CHARGE Association. The cluster of congenital disabilities caused by this disorder includes coloboma, heart defects, atresia, growth challenges or retardation, genital anomalies, and ear anomalies, and thus forms the acronym ‘CHARGE’. Not only the malformations, but their effects also vary from child to child. According to the teachers of Child care centers, combinations of these health problems can be life-threatening during infancy. However, with timely diagnosis and treatment, kids with CHARGE Syndrome can lead a healthy and happy life.

But What is This CHARGE Syndrome?

The term ‘CHARGE’ was first created in the year 1981 for the group of disorders this syndrome shows in children. CHARGE stands for the range of disabilities, ocular coloboma, congenital heart defects, choanal atresia, retardation of development, genital anomalies, and ear anomalies or deafness. However, the presence of each of these effects is not necessary for a diagnosis of CHARGE Syndrome. The four most essential deformations include coloboma, atresia, abnormalities in the cranial nerve, and ear anomalies.

What Causes CHARGE Syndrome?

CHARGE Syndrome is a genetic disorder and this is identified on chromosome 8, and it involves CHD7 gene mutations. The gene is connected with delivering commands for the creation of proteins to synchronize gene activity, through the method of chromatin remodeling. A mutation in the gene results in the premature breakdown of the CHD7 protein during embryonic development and that causes the signs and symptoms of the disorder. Currently, CHD7 is the only gene that has been identified with the syndrome. CHARGE Syndrome inheritance is autosomal dominant. The set of symptoms is rarely a result of inheritance from affected parents, and in most cases of the ailment result from new modifications of the CHD7 gene. According to the medical practitioners of Duarte, CA one-third of individuals with CHARGE Syndrome do not possess an identified mutation of the CHD7 gene, and the cause of the disorder in these cases is unknown. Many may think that the Syndrome might have resulted from other hereditary or environmental factors.

Main Symptoms of CHARGE Syndrome :

• The most common physical signs of CHARGE Syndrome are coloboma, heart defects, atresia, growth retardation, genital anomalies, and ear anomalies.
• Optical coloboma is the manifestation of a slight slit in the eye, in the retina or iris, triggering loss of vision.
• One of the rare signs of this syndrome is Choanal atresia which is the blockage of the nasal passage.
• Child care teachers have observed that Cranial nerve abnormalities are a quite common symptom of the syndrome which result in facial paralysis, difficulty swallowing, or loss of sense of smell or hearing.
• Heart defects and growth retardation are also quite common symptoms of CHARGE Syndrome.

This is a rare genetic disorder that can have several life-threatening symptoms. Early detection and proper medical intervention can go a long way and help a child with CHARGE Syndrome lead an independent, healthy, and happy life.