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 2026
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Skeletal dysplasia-epilepsy-short stature syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.