10/05/2024
Today we celebrate everything wonderful about Cornelia de Lange Syndrome.
Awareness day for CdLS is the second Saturday in May.
Happy CdLS awareness day to each and every beautiful angel we get to share life with 💜
Here is a little about 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 occurrence of CdLS is estimated to be 1 in 10,000 live births, but because it is so variable, could 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 for the gene change will be positive in about 80% of individuals with CdLS, but a clinical evaluation with a geneticist should be diagnostic.
