X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome is a rare genetic condition that affects brain development and physical characteristics. It is known to involve intellectual disability, episodes of psychosis, and enlarged testes (macroorchidism). This syndrome has been recognized under many different names, including Lindsay-Burn syndrome and MRXS13, among others. Although the detailed definition is not fully available, this summary brings together key features shared by individuals with the condition.

People with this condition may experience a range of symptoms. Common signs include intellectual disabilities and changes in behavior that can be associated with psychosis, such as mood disturbances. An enlarged testicular size (macroorchidism) is another noted feature. Detailed and comprehensive symptom descriptions are currently limited.

The syndrome is linked to changes in genetic material, particularly involving the MECP2 gene. Due to its X-linked pattern, the condition mostly affects males, although full details on inheritance and risk factors remain limited.

There is limited information available on treatments that are specific to this condition. In general, management focuses on supporting people with their symptoms and may include educational, behavioral, and supportive interventions to improve quality of life.

Long-term outlook information for this condition is not well defined. The quality of life for individuals can vary, with improvements possible when symptoms are managed through supportive care and tailored interventions.

Research into X-linked intellectual disability-psychosis-macroorchidism syndrome is ongoing but remains limited. Future studies are needed to better understand the genetic causes and to explore more effective management strategies.