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

Get in touch with RARE Concierge.

Contact RARE Concierge

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 July 2024

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

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Don't see your organization here. Let us know here.

Clinical Trials

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