3MC syndrome

Orpha code: 293843OMIM code: 265050

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
-

No additional description.

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