Jacobsen Disease in Children

Jacobsen syndrome is a rare disease that children develop because they are lacking a portion of their 11th chromosome, according to Healthline. This disease causes children to develop birth defects or health problems early in life, which are sometimes fatal.

Significance

• About one out of every 100,000 babies develop Jacobsen syndrome, according to the Genetics Home Reference. Dr. Petra Jacobsen first detected Jacobsen syndrome in children in 1973.

Cause

• Jacobsen syndrome is usually not inherited, as parents of children with Jacobsen syndrome rarely suffer from the disease. When embryos or fetuses are developing, certain genetic material is erased, according to the Genetics Home Reference.

Physical Characteristics

• Physical characteristics of children with Jacobsen syndrome include skull abnormalities, such as a high forehead, large head or asymmetrical facial structure; small ears; irregularly-spaced eyes and/or drooping eyelids; a flat nasal bridge and/or short nose; a mouth with a thin upper lip; a small jaw; flat fingers and/or flat feet.

Health Problems

• Children with Jacobsen syndrome are often lighter and shorter than other kids, according to an article by Mattina, Perrotta and Grossfeld for the "Orphanet Journal of Rare Diseases." They usually have problems with their heart, language development, kidneys and/or food digestion. Many children with the disease also suffer from mental retardation, a bleeding disorder called Paris-Trousseau syndrome and/or ear and sinus infections, according to the King County Developmental Disabilities Division.

Treatment

• Some children with Jacobsen syndrome need to get heart surgery or blood platelet transfusions, and babies with the disease may have to be tube fed. Children may need to go to specialists, such as an ear, nose and throat doctor; a gastroenterologist or physical therapist, for treatment for conditions related to Jacobsen syndrome.