X-linked intellectual disability-seizures-psoriasis syndrome
Synonyms: Tranebjaerg-Svejgaard syndrome
A rare X-linked syndromic intellectual disability disorder characterized by severe intellectual disability psychomotor developmental delay generalized seizures and psoriasis. Mild craniofacial dysmorphism such as hypertelorism broad nasal bridge anteverted nares macrostomia highly arched palate and large ears is also associated. There have been no further descriptions in the literature since 1988.
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 October 2023.
Newly diagnosed with
X-linked intellectual disability-seizures-psoriasis syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.