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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome?
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