Gurrieri syndrome
Alternate names[edit | edit source]
Mental retardation, epilepsy, short stature and skeletal dysplasia; Gurrieri-Sammito-Bellussi syndrome
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Gurrieri syndrome is a rare disease.
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