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]

NIH info on Gurrieri syndrome

Gurrieri syndrome is a rare disease.

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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine