By
Dr. Jagatheesan Alagesan Principal, Professor, Saveetha College of Physiotherapy, Saveetha Institute of Medical and Technical sciences.
Mr. Sai Nikesh, Student, Saveetha College of Physiotherapy, Saveetha Institute of Medical and Technical Sciences.
CHARGE syndrome is a rare genetic condition that affects several parts of the body. CHARGE is the the abbreviation of the common features in the disorder such Coloboma,Heart defects,Atresia choanae , Retardation in growth,Genital abnormalities,Ear abnormalities
Who can be affected by CHARGE syndrome?
It can be affected in a gene defect children irrespective of the gender.Mutations in the CHD7 gene is the most common cause of CHARGE syndrome. In the rare case, it is autosomal dominant inheritance, which means it is transmitted from parent to child. Most cases arise from de novo mutations, which means that they are not inherited but occur sporadically. Therefore, abnormalities of the CHD7 gene, which usually occur de novo, can be found in over 90% of the children
MODE OF INHERITANCE
✔️ AUTOSOMAL DOMINANCE
✔️ CHD7 GENE
What is the incidence rate of the syndrome?
It is a rare genetic disorder, Its incidence rate is about 1 in 10000 births
Management:
There is no cure for CHARGE syndrome but the complications can be managed such as assistive devices for hearing problems surgeries for cleft lip and heart defects ventilators and cpap for breathing problems and medicine for respective complications. The life expectancy for the children with this syndrome depends upon the severity of the complications.
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