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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

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¿Qué causa el SCdL?

R4
El SCdL clásico suele producirse por mutaciones en el gen NIPBL; no obstante, también deben considerarse variaciones en alguno de los otros seis genes – SMC1A, SMC3, RAD21, BRD4, HDAC8 o ANKRD11/ – ya que pueden dar lugar a un fenotipo similar.

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