Short stature-webbed neck-heart disease syndrome

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Synonyms: Al Gazali-Aziz-Salem syndrome

Short stature-webbed neck-heart disease syndrome is characterized by short stature intellectual deficit facial dysmorphism short webbed neck skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.

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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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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