Topic: Treatment of Cornelia De Lange Syndrome
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Answers to Common Questions
What is Cornelia De Lange Syndrome?
CdLS is a severe condition which can cause several different congenital anomalies. It affects many different parts of the body, it often causes slow growth physically and mentally. Excessive body hair and a small head are often symptoms. Read More »
Source: http://answers.ask.com/Health/Diseases/what_is_cornelia_de_lange_...
What genes are related to Cornelia de Lange syndrome?
Mutations in the NIPBL , SMC1A , and SMC3 genes can cause Cornelia de Lange syndrome. NIPBL gene mutations have been identified in more than half of all people with this condition; mutations in the other two genes are much less common. The ... Read More »
Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
How common is Cornelia de Lange syndrome?
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. Read More »
Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
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Treatment of Cornelia De Lange Syndrome
Cornelia de Lange syndrome is a congenital syndrome of unknown origin diagnosed on the basis of facial characteristics consisting of synophrys (eyebrows joined at the midline), long eyelashes, long philtrum (area between the upper nose and the... More »
Source: healthline.com
More Common Questions
Answers to Other Common Questions
These resources address the diagnosis or management of Cornelia de Lange syndrome and may include treatment providers.
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
When Cornelia de Lange syndrome is caused by mutations in the NIPBL or SMC3 gene, this condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each c...
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
new gene mutation new mutation palate pattern of inheritance protein seizure sex chromosomes short stature sign stage stature symptom syndrome You may find definitions for these and many other terms in the Genetics Home Reference Glossary S...
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
Ask the Genetic and Rare Diseases Information Center .
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
You may find the following resources about Cornelia de Lange syndrome helpful. These materials are written for the general public.
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
