Otopalatodigital syndrome type 2

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Synonyms: OPD II syndrome | OPD syndrome 2

A severe form of otopalatodigital syndrome spectrum disorder and is characterized by dysmorphic facies severe skeletal dysplasia affecting the axial and appendicular skeleton extraskeletal anomalies (including malformations of the brain heart genitourinary system and intestine) and poor survival.

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

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Otopalatodigital syndrome type 2?

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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.