skeletal dysplasia-epilepsy-short stature syndrome (MONDO_0011011) is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. Also known as: Gurrieri-Sammito-Bellussi syndrome.