A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability generalized hypotonia growth failure hydronephrosis cardiac anomalies and dysmorphic craniofacial features (such as microcephaly hypertrichosis synophrys long eyelashes epicanthus flat nasal bridge short upturned nose long philtrum low-set ears open-mouth appearance full lower lip cleft palate and webbed neck). Thin corpus callosum tethered spinal cord intestinal malrotation anal stenosis and uterus didelphys have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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