X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability growth retardation hearing impairment characteristic facial dysmorphology (including prominent supraorbital ridges downslanting palpebral fissures deep-set eyes long face sagging cheeks anteverted nares and pointed chin) generalized hypotonia joint hypermobility gluteal crease with sacral caudal remnant and sacral dimple and variable neurological features. Various ophthalmic cutaneous musculoskeletal gastrointestinal and cardiovascular 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 April 2024
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X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
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.
Clinical Trials
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