Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Craniofacial-ulnar-renal syndrome Zespół czaszkowo-twarzowo-łokciowo-nerkowy Zespół Malpuecha, Michelsa, Mingarelli i Carnevale'a Malpuech-Michels-Mingarelli-Carnevale syndrome ORPHA code 293843 OMIM code 265050 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl