TARP syndrome
Synonyms: Pierre Robin sequence-congenital heart defect-talipes syndrome | Pierre Robin syndrome-congenital heart defect-talipes syndrome | Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia glossoptosis and cleft palate) atrial septal defect persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable some patients present with further dysmorphic characteristics (e.g. hypertelorism ear abnormalities) while others do not have any key findings. Additional features such as syndactyly polydactyly or brain anomalies (e.g. cerebellar hypoplasia) have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
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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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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