Cornelia de Lange Syndrome

What is Cornelia de Lange Syndrome ?

Nobody knows what causes Cornelia de Lange Syndrome (CdLS); it is not hereditary The exact incidence of CdLS births is unclear, but it is thought to be between one in 40,000 to one in 100,000 live births. The diagnosis is clinical and usually based on the combination of distinctive facial appearance, limb anomalies and prenatal onset short stature. CdLS is a congenital syndrome, meaning it is present from birth and most of the signs and symptoms can be recognised at birth or shortly after. Children with CdLS are almost all affected by developmental delay, with a range from severe and profound to mild levels of intellectual disability. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.
In May 2004 the amazing doctors who dedicate their lives to finding the cause of CdLS in the genetic material found a difference in chromosome 5, which is common to 40 per cent of the available samples. Research continues in this area.
Children with CdLS bear a striking resemblance to each other, more than they resemble their siblings. This is also common in some other syndromes such as Down's syndrome. Children with CdLS frequently have upper limb deformities and small hands and feet. Many children are born with limb differences including missing limbs or portion of limbs, usually fingers, hands or forearms.

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