Severe intellectual disability-progressive spastic diplegia syndrome

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Synonyms: CTNNB1 syndrome

A rare genetic syndromic intellectual disability disorder characterized by intellectual disability significant motor delay severe speech impairment early-onset truncal hypotonia with progressive distal hypertonia/spasticity microcephaly and behavioral anomalies (autistic features aggression or auto-aggressive behavior sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi long and/or flat philtrum thin upper lip vermillion. Visual impairment (strabismus hyperopia myopia) is commonly associated.

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 July 2024

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Advocacy Organizations

CTNNB1 Foundation

Our mission is to raise funds, promote collaboration between researchers and organize research to better understand the disease that will ultimately lead to treatment solutions and improve the quality of life of people affected by CTNNB1 syndrome. We organize conferences to disseminate scientific advances, educate parents and physicians about the symptoms and latest research,

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

For a list of clinical trials in this disease area, please click here.