Known as KdVS, Koolen-de Vries syndrome is a rare genetic disorder. Children with this condition may have feeding difficulties in infancy, muscular weakness (hypotonia) in early childhood, developmental problems, language/speech delays, learning disabilities, mild to moderate intellectual disabilities, epilepsy, characteristic facial features, farsightedness, hearing impairment, flexible joints, flat feet, and spinal curvatures.
Affected children have hyperactivity and compulsive behavior problems. Some children with KdVS have birth defects. Common symptoms include developmental delay and/or intellectual disability. Epilepsy is also a common symptom in individuals with KdVS. Children with KdVS speak at a significantly later age. Low muscle tone and specific facial features that can be recognized by a medical expert are prevalent as well. Symptoms of KdVS vary from person to person. Other symptoms include vision problems and congenital abnormalities in the heart or kidney.
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KdVS is caused by a deletion of chromosome 17 or a mutation (pathogenic variant) in the KANSL1 gene. A “deletion” is the missing part of the hereditary material in a chromosome. When one parent has a disorder, the child also has a chance to inherit the disorder.
The prevalence of Koolen-de Vries syndrome is unknown. The study says that the prevalence of KdVS is 1 in 30,000 individuals.
There is currently no treatment for KdVS. Most of the symptoms, however, can be treated.
A regular pediatrician visit is essential for children with KdVS. Symptoms like developmental delays, nutrition problems, language difficulties, and visual hearing loss can be assessed by the pediatrician. Foot and spine positions should be monitored.
In children with epilepsy, a neurologist should also be consulted. Those with low muscle tone and obvious speech or language delays should be supervised by a speech therapist intensively.
The cost of medical care can be very expensive in the United States. Various programs (patient assistance/financial assistance/prescription assistance) are run by healthcare and pharmaceutical companies to help those in need and can be in the form of vouchers, coupons, discounts, co-pay assistance, or free medication. Depending on the program, you may receive a variety of benefits. And programs often have different requirements.
ASP Health helps patients find programs that can offer assistance by providing information about them.
ASP Health assists the underserved population by collaborating with doctors, hospitals, and other organizations to provide care for those who cannot afford it. The pharmaceutical companies that provide patient assistance programs often work closely with ASP Health because we can help by providing free or low-cost medicines for needy patients.
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