Kleefstra syndrome

Kleefstra syndrome is a genetic disorder marked by intellectual disability, reduced muscle tone in childhood, a severe delay in expressive speech, and a distinctive facial appearance. People with this condition may also experience a wide range of additional clinical features that vary from one individual to another. This condition is also known by several other names such as 9Q subtelomeric deletion syndrome and 9q34 deletion syndrome. The diverse features seen in Kleefstra syndrome highlight its complexity and the importance of recognizing the patterns that are most common among affected individuals.

Common signs and symptoms seen in Kleefstra syndrome include intellectual disability, childhood hypotonia (low muscle tone), severe delays in developing expressive speech, and a distinctive facial appearance. Some individuals may also exhibit other variable clinical features.

Kleefstra syndrome is caused by genetic changes. It is a genetic disorder that appears to result from chromosomal deletions or mutations, as suggested by its association with terms like 9Q subtelomeric deletion syndrome. The specific genes involved or detailed patterns of inheritance are not provided in the available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.