Cornelia de Lange Syndrome (CdLS) is a rare disease that affects between 1 in 10,000 to 1 in 30,000 newborn babies worldwide. CdLS is caused by mutations in the NIPBL gene in 65% of patients. Less ...

A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. A team of researchers has ...

An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. The finding is ...

The Cornelia de Lange Syndrome Foundation in Avon has named Marie Concklin-Malloy of Riverton acting executive director. Concklin-Malloy joined the foundation as director of external affairs in 2006 ...

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the ...

Mom Marcia Knowles is rallying a "Hoof It 4 Hunter" walk-a-thon to raise awareness for Cornelia de Lange Syndrome, a condition she knew nothing about until her own son was diagnosed. Hunter James ...

To date, only six patients with mutation in SMC3 have been identified. 8, 10 HDAC8 mutations have also been found in seven males from the same family affected by intellectual disability, short stature ...

What is Cornelia de Lange Syndrome? Cornelia de Lange syndrome is a developmental disorder that can affect multiple body parts. Although the exact prevalence of Cornelia de Lange syndrome is unknown, ...