What is Cornelia syndrome?

What is Cornelia syndrome?

Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers .

How often does learning disability occur with Cornelia de Lange syndrome?

In one of the largest of our research studies of over fifty children and adults with Cornelia de Lange syndrome, researchers at the University of Birmingham identified that 50% of our sample (27 out of 54) had a profound intellectual disability, 24% (13 out of 54) a severe intellectual disability, 15% (8 out of 54) a …

How is CdLS diagnosed?

The diagnosis of CdLS is generally performed after birth, but the syndrome could be suspected during the second and third trimester of pregnancy by observing a wide range of features through ultrasound examination.

Who discovered Cornelia de Lange syndrome?

History. The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888–1969), a German physician who wrote about the distinct features of the disease from his 19-year-old patient, followed in 1933 by Cornelia Catharina de Lange (1871–1950), a Dutch pediatrician after whom the disorder has been named.

What kind of disorder is Cornelia de Lange?

Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

How is Cornelia de Lange syndrome ( CdLS ) treated?

Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. It may include: [4] [5] Medications to prevent or control seizures.

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