World Kleefstra Syndrome Day

September 17 marks World Kleefstra Syndrome Day, a rare disease that deserves to be taken into account and made visible on its day.

Kleefstra syndrome is a disorder of genetic origin that affects the development of the individual. Its prevalence is unknown, although it is believed that it may affect 1 in 500 people with neurodevelopmental disorders. Kleefstra syndrome is caused, in most cases, by a loss of function in the EHMT1 gene. This gene codes for an enzyme essential for proper development that modifies histone activity.

From a clinical point of view, Kleefstra syndrome is characterized by typical facial features that are accentuated with age: brachiocephaly, midface hypoplasia, syphridia, cupid's bow upper lip, everted lower lip, protruding tongue and prognathism.

One of the most common symptoms in patients with Kleefstra syndrome is intellectual deficit, which can occur in different degrees (moderate to severe). In addition, many of them have delayed oral expression and speech development.

Other symptoms that may occur in patients with Kleefstra syndrome include cardiac abnormalities, kidney defects, epilepsy, recurrent infections and hearing problems.

Research is the only way to improve this incurable disease with a complicated prognosis of survival, whose only hope is precisely its study. The problem lies in the fact that research in this area is minimal because it is difficult to carry out multicenter studies and to obtain patient samples to carry out projects, due to its low prevalence.