9q21.13 microdeletion syndrome

9q21.13 microdeletion syndrome is a rare genetic condition that affects development. People with this condition often experience global developmental delay, intellectual disability, and delayed speech and language development. Other challenges may include epilepsy, autistic behaviors, and notable differences in facial features. The facial features associated with this syndrome can include an elongated face, a narrow forehead, arched eyebrows, horizontal palpebral fissures, and other characteristics such as a short nose, thin upper lip, and a prominent chin. Additional variable features may include microcephaly (a smaller head size), low muscle tone (hypotonia), increased hair growth (hypertrichosis), and misaligned eyes (strabismus).

Common symptoms include global developmental delay, intellectual disability, and delayed speech and language development. Seizures (epilepsy) and autistic behavior are also noted. Distinct facial features such as an elongated face, narrow forehead, and arched eyebrows are part of the syndrome. Other signs can include microcephaly, low muscle tone, increased hair growth, and strabismus.

The condition is caused by a deletion in a specific region of chromosome 9 (9q21.13). This genetic change leads to the range of developmental and physical features seen in people with the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.