3MC syndrome

Orpha code: 293843OMIM code: 265050

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Craniofacial-ulnar-renal syndrome
Zespół czaszkowo-twarzowo-łokciowo-nerkowy
Zespół Malpuecha, Michelsa, Mingarelli i Carnevale'a
Malpuech-Michels-Mingarelli-Carnevale syndrome
Kod ORPHA
293843
Kod OMIM
265050
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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