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MED13L

Management

Management of Asadollahi-Rauch syndrome (MED13L haploinsufficiency syndrome or MED13L-related intellectual disability) includes speech, behavioral and occupational therapy, treatment of epilepsy if develops in the course of the disorder, and management of congenital anomalies especially congenital heart defects, cleft palate, club feet, umbilical hernia, cryptorchidism and strabismus if present.

Surveillance should include cardiac assessment for excluding congenital heart defects, ophthalmologic examinations for strabismus and other eye problems, monitoring of development, growth parameters and musculoskeletal abnormalities such as scoliosis, and surveillance of epilepsy especially in patients with missense variants.