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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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