Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
A rare genetic syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language severe intellectual disability long slender fingers ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression a tubular-shaped nose with a prominent broad base and tip and other variable features such as broad forehead hypertelorism deep-set eyes narrow palpebral fissures short philtrum and/or broad mouth.
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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Severe intellectual disability-poor language-strabismus-grimacing face-long fingers 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
For a list of clinical trials in this disease area, please click here.