Short stature-webbed neck-heart disease syndrome
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 April 2024
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Short stature-webbed neck-heart disease syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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