3MC syndrome

3MC syndrome is a rare developmental disorder that brings together conditions once known as Carnevale, Mingarelli, Malpuech, and Michels syndromes. People with this condition often show a range of developmental anomalies affecting the face, skull, bones, and other body systems. Typical features include a distinctive facial appearance with wide-set eyes, narrow openings of the eyelids, droopy eyelids, and high, arched eyebrows. In addition to these facial features, there may be other developmental issues such as cleft lip and/or palate, premature fusion of skull bones (craniosynostosis), and learning challenges. Some individuals may also experience joint abnormalities, especially in the arms, as well as issues with the genital and urinary systems. Less common features reported include eye defects, heart problems like ventricular septal defect, abnormal tail-like appendage, umbilical hernia or omphalocele, and separation of the abdominal muscles (diastasis recti).

Common signs of 3MC syndrome include distinctive facial dysmorphisms such as wide-set eyes (hypertelorism), narrow eyelid openings (blepharophimosis), droopy eyelids (blepharoptosis), and highly arched eyebrows. Other symptoms include cleft lip and/or palate, early fusion of skull bones (craniosynostosis), learning disabilities, and bone abnormalities such as radioulnar synostosis. There may also be anomalies in the genital, urinary, and sometimes cardiac systems with additional rare features like anterior chamber eye defects, a caudal appendage, umbilical hernia or omphalocele, and diastasis recti.

3MC syndrome is inherited in an autosomal recessive manner. This means that affected individuals receive two copies of a gene change, one from each parent. The condition groups together several overlapping disorders that were previously thought to be separate.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.