Cornelia de Lange Syndrome: Treatment, Cost and Side Effects

Cornelia de Lange syndrome is a genetic disorder that develops in a child owing to defects in the HDAC8 or SMC1A gene. This is a disorder where the child suffers from stunted growth and mental disability. In most cases the child does not develop proper motor skills. A child with Cornelia de Lange syndrome looks different from other children, in that he/she can have a very small nose, arched conjoined eyebrows, gapped teeth. Some of the children are seen to have abnormal hair growth across the body due to this disorder.

The child shows signs that are similar to autism. Treatment at an early stage aims at help the child tackle common problems of Cornelia de Lange Syndrome like feeding difficulties, hearing loss or vision problems, cardiac problems and ailments in the urinary tract. Computer Software can be used in imparting visual education, or improving visual memory of the child concerned. Motor skills development program is also a very important part of the treatment. Rehabilitation program for improving the visuo-cognitive perception of the child is also one of the interventional procedures. Many a time a child with Cornelia de Lange syndrome suffers from certain disorders such as cleft palate, nasal polyps, gastroesophageal reflux disease, hip dislocation, lacrimal duct stenosis, intestinal malrotation. In these cases a surgery might improve the condition of the child.

A child with Cornelia de Lange syndrome shows various disorders. Therefore a consolidated treatment approach is required to treat children like these, where the involvement of doctors from various fields are required. The specialists who treat a child with this disorder belong to the fields of genetics, cardiology, gastroenterology and nutrition, nephrology, ophthalmology and neurology.

Some of the disorders in children with Cornelia de Lange syndrome, like cleft palate, nasal polyps, hip dislocation need surgery. However, there are certain complications that may arise during surgery, like convulsions and arrhythmia. Therefore surgeons use special preventive measures. Medical therapy works well for children with these children. A common problem of de Lange syndrome is gastrointestinal disorders. To check that, antacids, metoclopramide, histamine-2 blockers are given. Sometimes patients are also given hearing aids to help them combat hearing loss.

The predominant interventional methods to treat Cornelia de Lange syndrome are psychoeducational and cognitive-behavioral approaches where the child learns how to speak (it has to be noted that the child will develop speech alright, but he/she would not be speaking like other children. Instead he/she will develop slurry speech that might be a little bit difficult to comprehend.), perform daily activities, develop motor skills like running, walking, sitting and moving.

Symptoms of Cornelia de Lange syndrome includes stunted growth, peculiar physical features, cognitive impairment, and difficulty in moving or speaking. If you observe that your child has these problems seek for expert aid immediately.

One of the commonest symptoms of Cornelia de syndrome is stunted growth. Stunted growth can be a resulting cause of dwarfism or iodine deficiency. And, just because a child is suffering from dwarfism it does not mean that he/she needs treatment for Cornelia de Lange. Similarly, mental impairment can be a resulting cause of trauma, if it is not genetic defect. In that case, the treatment would be different and not similar to the interventional procedures that are used to treat Cornelia de Lange syndrome.

Surgery may be performed on a patient suffering from Cornelia de Lange syndrome. There are certain complications or side effects that might crop up during surgery. Some of these include malignant hyperthermia (which is a reaction to medications that might be used during anesthesia), bronchospasm, arrhythmia, convulsions and adverse reaction to certain drugs.

A child with this disorder requires permanent treatment. Parents have to make sure that the child implements the skills the he/she learns in school in a home environment. The child requires 24x7 guidance, and, if he/she is under medication, parents should ensure that the child takes those medicines on time. In case of surgery, parents should follow the aftercare guidelines chalked out by the doctor thoroughly.

Cornelia de Lange syndrome is a kind of disorder that requires life-long treatment.

The most important aspect of Cornelia de Lange Syndrome is special education. The fees of special schools in India per month can be anywhere between INR 500 and INR 3000.

The treatment aims at alleviating the symptoms that are associated with this disorder, but there is no ultimate cure for Cornelia de Lange. So the results are not permanent.