X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-short stature-overweight syndrome is a condition affecting many parts of the body. It is a multiple congenital anomalies syndrome that is marked by a range of intellectual disabilities from borderline to severe levels. Many people with this condition experience speech delays and may have difficulties with learning and communication. The syndrome is also characterized by physical features such as short stature and an elevated body mass index, with a pattern of truncal obesity frequently reported in older males. In addition to these features, some individuals have neurologic symptoms like hypotonia (low muscle tone), tremors, gait disturbances, and behavioral issues. Seizure disorders have been noted in some cases as well. Less commonly, other features such as microcephaly (a small head size), microorchidism (small testes), and microphallus (small penis) may be present. While some dysmorphic (unusual) facial or body features have been observed, there is no consistent pattern across all people with this syndrome.

Common symptoms include intellectual disability, speech delay, and difficulties with learning that can range from borderline to severe. Other signs are short stature and weight issues, such as an elevated body mass index and truncal obesity, which are often seen in older males. Neurologic features may include low muscle tone, tremors, disturbances in walking, behavioral challenges, and sometimes seizures. There is also variability in how these symptoms present from one individual to another.

This syndrome is linked to changes in the THOC2 gene, which is found on the X chromosome. Because the condition is X-linked, it is more likely to affect males. The genetic changes in THOC2 are responsible for the range of congenital differences and symptoms seen in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.