Dysmorphism-conductive hearing loss-heart defect syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Dysmorphism-conductive hearing loss-heart defect syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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