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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Skeletal dysplasia-epilepsy-short stature syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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