Abruzzo Erickson Syndrome, commonly known as CHARGE syndrome, is a rare genetic disorder. The term CHARGE is actually an acronym to help describe the most common symptoms which can be seen in infants born with this condition.
The most common symptoms of Abruzzo-Erickson syndrome include central nervous system anomalies including Coloboma of the eye, Several different types of heart defects, Retardation of growth resulting in the person being small in stature, Atresia of the choanae, Abnormities of the ear sometimes including deafness. Very few people with this syndrome experience all of these symptoms but typically at least two or three are present in most cases.
Common look of the ear of someone with Abruzzo-Erickson syndrome, and an implant to help with hearing.
This syndrome is caused by mutations of the CHD7 gene which is part of Chromosome 8 in most patients.
Children with Abruzzo-Erickson syndrome can survive into adulthood and live happy, productive lives as long as they are treated from an early age. These kids have many life-threatening problems which must be addressed. Medical advancements in the past several decades have made it much more common for people born with Abruzzo-Erickson syndrome to live long and happy lives. Since the majority of people with this syndrome have hearing problems that is one of the first things which is addressed when planning a lifelong treatment plan.
There is no cure for this condition and much of the treatments will be focused on addressing specific symptoms rather than the syndrome itself. Things such as physical therapy and occupational therapy are important. One key thing to remember is that many children with this syndrome are of normal intelligence but due to their disabilities may need special help. Some parents have underestimated the intelligence of their children because of the hearing problems and other issues which make education more difficult.
Working with doctors to ensure a plan to ensure they can live as normal and productive life as possible is important from an early age. Most of the time, with special attention, they can live very happy and long lives. Monitoring the heart for the defects which are common is also important since there are medications which can help minimize this risk or surgery to correct some of the conditions which are possible.
The diagnosis of this condition is typically made by doctors observing several of the most common symptoms in the patient. There are genetic tests which can help to confirm the condition but these are expensive to run and only have a 60% rate of success so they are not performed in most cases. A confirmed diagnosis also does not change the treatment options so there is little advantage in seeking the genetic tests in most cases.