What is Charge Syndrome?
The cause of Charge Syndrome is still uncertain. It is a rare disease which attacks different parts of
the body. The most common problem areas are the eyes, heart, genitals and ears and the condition progresses as the child is growing. The word "Charge" is made up of the first letters of the words
which show some of the most common manifestations of the disease:
C Coloboma (eye abnormalities)
H Heart defects
A Choanal Atresia (nasal blockage)
R Retardation of growth and developmental delay
G Genitalia (small genitals and non-descended testicles)
E Ear abnormalities
Other impairments can also be added: harelip and cleft palate, larynx, oesophagus and trachea malformations, balance problems and kidney problems.
The problems are not always of the same intensity. Charge syndrome sufferers can have coloboma or
total blindness. The syndrome can involve malformation of the ears, balance problems or different levels
of deafness. Heart defects can be of various types: from arteries which go in the wrong direction to more
complex problems which require surgery. The nose may be blocked by skin tissue or bone in one or both nostrils. Growth and development may be slow, probably due to hormone deficiency, nutritional problems
or long hospital stays.
A little-known disease:
Children affected by Charge Syndrome must undergo emergency surgery and long hospital stays from
birth and require constant medical supervision form a number of professionals.
At the moment, there are few adults diagnosed with Charge. This almost certainly is due to the fact that
the disease was only recognised in 1979. Only greater knowledge of this disease will enable
the identification of the ever-increasing number of adults with Charge Syndrome.
With the right teaching and help, an ever-larger number of Charge sufferers can deal
with the most important aspects of life. Like everyone else they have abilities, but they need help
to learn to use them functionally and constructively. So, even if the medical aspects seem of prime importance, it is very important to take the earliest possible opportunity for a rehabilitaion evaluation.
The parents and family play an important role in rehabilitation but they need support and professional guidance.
What help does the Lega del Filo d'Oro offer?
The Lega del Filo d'Oro works with people affected by Charge Syndrome because many of them have
sight and hearing problems. It also works with the families, services and professionals involved.
Timely rehabilitation and evaluation can be offered. Our services for Charge Syndrome sufferers include:
• Practical advice and support for sufferers and their families;
• Specialist medical consultancy and rehabilitation which concentrates on the specific development
and needs of each individual;
• Information of Charge Syndrome (including international ideas and news);
• Putting people in touch with the social services that can help them.
For further information on Charge Syndrome:
