Syndromic microphthalmia-12

Syndromic microphthalmia-12 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).^[1] 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.^[1][2][3]

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