Dysmorphism-conductive hearing loss-heart defect syndrome
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline bilateral ptosis prominent eyes flat midface broad ﬂat nares Cupid’s bow upper lip vermilion and small low-set posteriorly rotated ears) in addition to cleft palate conductive hearing loss heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
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 December 2023
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Dysmorphism-conductive hearing loss-heart defect syndrome?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
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