Emanuel Syndrome is caused by the presence of an extra derivative chromosome, which is made up of the top part of chromosome 22 and the bottom part of chromosome 11. Typical individuals have 46 chromosomes, but individuals with Emanuel Syndrome inherit this extra derivative chromosome, which gives them 47 chromosomes in total – one too many. This is much like how individuals with Down Syndrome have an extra chromosome 21 – a trisomy 21. A trisomy is three copies of a whole chromosome or part of a chromosome.

Having this extra chromosome leads to the common features that are typically seen in the majority of children with ES, and which may include a small jaw (micrognathia), cleft palate, heart defects, ear differences, skin tags, kidney and genital abnormalities, and intellectual and physical impairments. It is important to know that not all children with ES have exactly the same features. Some children may have fewer physical or medical issues, but all will experience delays in their intellectual development.

Learn more at emanuelsyndrome.org →