Topic: Adults with 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_...
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
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
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Answers to Other Common Questions
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
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
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
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
Ask the Genetic and Rare Diseases Information Center .
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Source: http://ghr.nlm.nih.gov/condition=cornelia-de-lange-syndrome
( də lăng'ēz, läng'əz ) or Cor·ne·lia de Lange's syndrome ( kôr-nēl'yə ) n. A syndrome of unknown cause characterized by mental retardation, short stature, thick eyebrows and low hairline, and flat, spadelike hands with short tapering finge...
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Source: http://www.answers.com/topic/de-lange-s-syndrome
