The Cornelia de Lange Syndrome (CdLS) Foundation is a national organization that provides support to individuals with CdLS and their families to ensure early and accurate diagnosis of the rare genetic syndrome, CdLS, and to make informed decisions throughout their lives. The Foundation establishes a community and facilitates advocacy. Services include a toll-free hotline where licensed social workers act as a facilitator between families and professionals who lend their expertise; host gatherings and events allowing researchers and families to exchange information; and provide publications and awareness materials to educate practitioners, the education support system, and the local community.
Overview of CdLS:
Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, usually not inherited. It is usually due to an acquired change (mutation) in one of seven important developmental genes at or shortly after conception. The signs of CdLS may be obvious from birth or even prenatally, especially if severely involved, but may not be diagnosed until the child is older, when it is milder. It causes such a broad range of potential physical, cognitive, and medical challenges that it is now known as the CdLS spectrum disorder. CdLS does not discriminate— it affects both genders equally, and it’s seen in all races and ethnic backgrounds. The incidence of CdLS is estimated at 1 in 10,000 live births, but because it is highly variable, it may remain undiagnosed. It typically affects: growth, with smaller body and head size; skeletal system, with smaller hands and feet or missing forearms and fingers; development, with delayed development, intellectual disability, or learning disabilities; behavior, with ADHD, anxiety, or autistic features; and internal body organs, including the GI, cardiac, genitourinary, and neurologic body systems. Testing the gene change will be positive in about 80% of individuals with CdLS, but a clinical evaluation with a geneticist should be diagnostic.
