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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Severe intellectual disability-progressive spastic diplegia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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
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
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.