Nicolaides-Baraitser syndrome

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Synonyms: Intellectual disability-sparse hair-brachydactyly syndrome

A rare genetic syndromic intellectual disability characterized by short stature sparse hair characteristic coarse face brachydactyly with prominent interphalangeal joints seizures and intellectual disability. Facial characteristics include triangular shaped face dense and prominent eyelashes rounded premaxilla broad nasal base thick alae nasi upturned nasal tip broad philtrum thin upper vermilion thick and everted lower vermilion and wide 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 June 2024

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Nicolaides-Baraitser 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.