The Cornelia de Lange Syndrome (CDLS) is a rare disease of genetic origin and has been described so far in 5 genes that produce a wide variety of anomalies and malformations; its prevalence in the general population is estimated to be between 1/62,500 and 1/45,000.
The genetic mutations of the CDLS produce a diversity of physical and mental characteristics, being the most common: low weight and short stature at birth, thick eyebrows that meet in the middle, hand and foot malformations, gastroesophageal reflux, cardiac malformations, global deficit in physical, motor and intellectual development, and 90% of the bearers do not acquire the verbal language. The diagnosis must be confirmed by clinical examination and genetic testing.
In Brazil, we have registered about 341 cases of CDLS of which approximately 15 had genetic confirmation. We know that the number is not impressive compared to public health, however, for the bearer and his family, this number can represent 100% of the family involved.
Like any other rare disease, access to information is difficult and treatments are scarce. Considering that, 18 years ago, the father of a child with CDLS decided to found an association to gather and disseminate information about the syndrome and actions to improve the lives of the people with CDLS and their families.
The association has grown, it is called CDLS WORLD, and currently includes the participation of 35 countries.
This Association carries out a worldwide meeting every two years with the participation of the person with the syndrome, his/her family (parents, siblings, grandparents), the caregivers and CDLS experts, doctors and professionals around the world.
During this Convention, lectures with specialists and family reunions are carried out; individual SPECIALIZED CONSULTATIONS, with experts in different areas and from several countries, are offered to the bearers.
In 2017, this meeting will be held in Minas Gerais, Brazil, at Tauá Resort Caeté!
Families will be able to learn and understand what happens to their family members, they will have the rare opportunity to see the best specialists, who will also be available to guide and help with the best therapies for each case.
In 2017, from August 15-18, we will have the opportunity to host the 9th CDLS WORLD Convention in Brazil and find many answers that can help improve the lives of people with CDLS and their families.
Help us bring this information to the several families who need help and the several professionals involved and in search of a better explanation about the Cornelia de Lange Syndrome (CDLS).
We count on your participation!
President of the Cornelia de Lange Syndrome Brazilian Association