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Doctors for Cornelia de Lange Syndrome in Malmaddu, Hubli-Dharwad
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Patient reviews for Doctors for Cornelia de Lange Syndrome in Malmaddu, Hubli-Dharwad
Lybrate User's review for Dr. Ashutosh Wahi
dr wahi marvelous his experience appear in way of asking to patient. Read more reviews
Kalmesh's review for Dr. R. V. Desai
yea it was nice meeting doctor .... was satisfied with hi consultant Read more reviews
CORNELIA DE LANGE SYNDROME
This is a cardiac disease which is quite rare and a genetic one. It cannot usually be diagnosed during the new born phase. It is caused due to faulty genetic mutations that give rise to symptoms like delays in development, thin lips, thick or bushy eyebrows, too much of body hair, a fifth finger that will be curved inwards, and a cleft palate.
HOW IS CORNELIA DE LANGE SYNDROME DIAGNOSED?
The diagnosis of Cornelia de Lange syndrome (CdLS) is done before birth (prenatally) through the use of ultrasound imaging. In most cases, CdLS is diagnosed and confirmed after birth based upon a thorough clinical evaluation and identification of characteristic physical findings. Molecular genetic testing for the NIPBL and SMC1L1 gene mutations associated with CdLS is available to confirm the diagnosis and is particularly helpful when the physical features are mild or unusual
HOW IS CORNELIA DE LANGE SYNDROME TREATED?
Treatment of the disease requires combined effort of cardiologists, paediatricians, and physiotherapists. Though the disease cannot be cured, symptomatic support can be provided
DID YOU KNOW?
This genetic disorder is also called Bushy Syndrome.