Spørg eksperter

Genetics

   

Question

Are there any cures or treatment for CdLS?

Answer of our experts

There are no cures for CdLS as it is a genetic condition. It is the result of a random mutation in a gene that occurs after conception. At this time there is no genetic test for CdLS, rather it is made on the basis of observable clinical characteristics and features

Children with CdLS tend to have difficulty gaining weight and tend to be of short stature. Facial characteristics and limb differences (which sometimes occur with CdLS), and mental retardation, which can range from severe to mild, are permanent features of CdLS

Heart anomalies can occur with CdLS and in some cases are outgrown during childhood or may require corrective surgery. Reflux is common in 85% or greater of individuals with the syndrome. Reflux, which is the backwards flow of stomach acids into the esophagus, can usually be treated effectively with medication or in some cases require corrective surgery (fundoplication) to correct. Children with CdLS tend to gain weight at their own pace and there is little that can be done to improve this unless there are feeding/swallowing problems in which case tube feeding is used to insure proper nutrition

Children with CdLS may have behavioral manifestations, with autistic-like characteristics, self-injurious behavior, aggression, non-compliance, anxiety, and obsessive-compulsive tendencies. These can sometimes be effectively addressed through behavior programs and medications

Children with the syndrome usually receive speech therapy, physical therapy, and occupational therapy to facilitate their development in these areas. Early intervention services have shown an overall positive effect on the development of skills in individuals with CdLS. Special education services are also helpful in facilitating educational growth and objectives

BC/TK 7-13-10

Answer is checked and valid for
us
Find andre sidder der deles de sammen emne som den side Moleculair diagnostic criteria

Anbefaling(er)

Moleculair diagnostic criteria

R4
Classic CdLS is usually caused by variants in NIPBL; however, variants in one of six other genes – SMC1A, SMC3, RAD21, BRD4, HDAC8 or ANKRD11/ – should also be considered, as they may lead to a similar phenotype.

Legal Disclaimer

Please take note that the Ask the Expert service is comprised of volunteer professionals in various areas of focus. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.

 

Do you have a question you would like to ask?

Ask a Question
waihonapedia.topic.nav.current
Moleculair diagnostic criteria
Information

Om indholdet af hjemmesiden

Alle oplysninger på dette websted er udelukkende til undervisningsformål. Det er din læge, der er det rette sted at få specifik medicinsk rådgivning, diagnoser og behandling. Brug af dette websted sker udelukkende på eget ansvar. Hvis du finder noget, som du mener, der skal rettes eller præciseres, bedes du give os besked på: 

Send en e-mail: info@cdlsWorld.org