Severe intellectual disability-progressive spastic diplegia syndrome
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 May 2024
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Severe intellectual disability-progressive spastic diplegia 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.
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,
CTNNB1 – Advancing CTNNB1 Cures and Treatments
To fund research to develop safe and effective therapeutics to treat CTNNB1 syndrome while raising awareness and unifying our patient population
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
For a list of clinical trials in this disease area, please click here.