Skeletal dysplasia-epilepsy-short stature syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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