Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

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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 Data version July 2024

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Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome?

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Advocacy Organizations

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.