3MC syndrome

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Synonyms: Craniofacial-ulnar-renal syndrome | Malpuech-Michels-Mingarelli-Carnevale syndrome

A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate craniosynostosis intellectual disability and/or learning disability radioulnar synostosis genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism blepharophimosis blepharoptosis high arched eyebrows. Less common features reported include anterior chamber defects cardiac anomalies (e.g. ventricular septal defect; see this term) caudal appendage umbilical hernia/omphalocele and diastasis recti.

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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3MC 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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