3MC syndrome 2

3MC syndrome 2 is a rare genetic disorder that is caused by a mutation in the COLEC11 gene. It is part of a group of conditions known as 3MC syndromes, which have been described under various names including 3MC syndrome caused by mutation in COLEC11, 3MC syndrome type 2, Carnevale syndrome, Osa syndrome, oculo-skeletal-abdominal syndrome, and others. Because 3MC syndrome 2 is defined by a specific genetic mutation, it falls under the broader category of 3MC syndromes, and the recognition of its different names reflects its varied presentation in different individuals. The information available highlights the genetic cause of the disorder, though more details about its full clinical picture are currently limited.

Information about symptoms is currently limited for this condition.

3MC syndrome 2 is caused by a mutation in the COLEC11 gene. This genetic change disrupts normal developmental processes, which is central to the way this condition presents in people with this disorder.

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.