TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression variable congenital heart defects (such as patent ductus arteriosus atrial or ventricular septal defects and double outlet right ventricle among others) and dysmorphic features (including ptosis epicanthal folds abnormally set/dysplastic ears low hairline or excess nuchal skin wide-spaced/inverted nipples umbilical hernia or diastasis recti and digital anomalies). Additional variable manifestations are hyper- or hypotonia seizures hearing loss cortical blindness and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
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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TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay 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
For a list of clinical trials in this disease area, please click here.