Skeletal dysplasia-epilepsy-short stature syndrome

Skeletal dysplasia-epilepsy-short stature syndrome 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, GURRIERI syndrome, intellectual disability, epilepsy, short stature and skeletal dysplasia, mental retardation, epilepsy, short stature and skeletal dysplasia

1 clinical trial for this condition and its sub-types, 0 tagged with Skeletal dysplasia-epilepsy-short stature syndrome itself.