MED13L Haploinsufficiency Syndrome

MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability, speech problems, and behavioral problems. People with the syndrome usually have distinctive facial features, such as eyes that slant upwards, a flat nasal bridge with a bulb-like tip, very small chin (micrognathia), large and low-set ears, and broad forehead. It often causes hypotonia, cardiac defects, behavioral issues including autism, eye differences, as well as abnormalities of the hands and feet including flat feet, contractures, clinodactyly (slight curve to the 5th finger) and other foot deformities. Most children with the syndrome have poor muscle tone (hypotonia) and may take longer to learn to sit and walk independently (delayed motor skills). Some babies with MED13L haploinsufficiency syndrome are born with heart defects, which may be mild or severe. Other features may include short stature, cleft palate, problems with coordination (ataxia), and recurrent seizures (epilepsy).