A rare genetic disease characterized by global developmental delay with language and cognition deficiencies behavioral problems osteopenia joint laxity skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas and abnormal hair structure. Mild facial dysmorphism (prominent forehead thick eyebrows epicanthal folds broad nasal bridge long philtrum and micrognathia) abnormalities of the teeth and skeletal and cardiac anomalies have also been described.
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 September 2024
Newly diagnosed with
Global developmental delay-osteopenia-ectodermal defect 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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.