Skeletal dysplasia-epilepsy-short stature syndrome
Synonyms: Gurrieri-Sammito-Bellussi syndrome
A rare genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae delayed bone age abnormalities of the vertebral bodies and schisis of the vertebral arches) seizures short stature cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities cataract prognathism dental malocclusion brachydactyly clinodactily slight generalized hypotonia and hyper extensible joints.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Skeletal dysplasia-epilepsy-short stature syndrome?
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