Down Syndrome Down syndrome is a genetic condition, caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans, occurring in about one per 1000 babies born each year. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Diagnosis Down syndrome can be diagnosed before birth, but it is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. Care and Support Care and support for people with Down Syndrome has improved. In the early 1900s, many people with Down syndrome were forced to live in group homes or care facilities. In the 1950s and 1960s, some groups emerged that began to advocate for the fair treatment of people with Down syndrome. People with Down Syndrome Can Live Normal Lives People with Down syndrome are people like you and me. Some people with Down syndrome live by themselves and work in regular jobs. Being part of society is important for all people, especially those who face challenges. Medical Healthcare Guidelines TSH and T4-Thyroid Function Test (annual) Auditory testing (every 2 years) Cervical spine x-rays (as needed for sports); check for atlanto-axial dislocation (fracture of the joint that supports the vertebrae) Opthalmologic exam, looking especially for keratoconus (degeneration of the cornea) & cataracts (every 2 years) Etc.