Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

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Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay severe intellectual disability mild hypotonia a short ulna hirsutism of the face and extremities minimal scoliosis and facial dysmorphism notably a tall broad forehead synophrys hypertelorism malar hypoplasia broad nose with thick alae nasi low-set small ears long philtrum thin upper lip and everted lower lip vermilion.

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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Short ulna-dysmorphism-hypotonia-intellectual disability 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

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