Genetic disorders are caused by alterations in the genetic code carried by DNA that is present in the nucleus of every cell of the body.

Many genetic disorders are caused by mutations or changes in the sequence of DNA that are passed from generation to generation (inherited), while others are due to abnormalities that are not inherited. Down syndrome, a disorder producing intellectual disabilities due to an extra copy of chromosome 21, is an example of a disorder that is genetic, but not inherited. Many children with genetic disorders are cared for at Kennedy Krieger, including those with Down syndrome, Fragile-X syndrome, Rett syndrome, osteogenesis imperfecta and adrenoleukodystrophy.

Examples, Subsets and Synonyms for Genetic Disorders, Chromosomal Abnormalities and Syndromes:

  • Angelman Syndrome
  • Down Syndrome
  • Fragile X Syndrome
  • Klinefelter Syndrome
  • Prader-Willi Syndrome
  • Rett Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Velocardiofacial Syndrome
  • Williams Syndrome