Syndromic microphthalmia-12 (MCOPS12) is a genetic syndrome with the main features of small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). People with this syndrome also have progressive movement disorders that cause severe global developmental delay. These movement disorders include spasticity and/or dystonia, with or without abnormal quick movements that resemble dancing (chorea). Within the brain, there can be defects of the cerebellum (Chiari type I malformation) and a build up of cerebrospinal fluid (hydrocephaly). This syndrome causes severe feeding problems and language delay. Facial features seen in people with this syndrome include a broad nose, and a very small chin (micrognathia). Syndromic microphthalmia-12 is caused by mutations in the RARB gene. Treatment for this syndrome is based on addressing any symptoms that a person experiences.
Description Last Updated: May 13, 2020