3MC syndrome

What is 3MC syndrome?

This rare disease is a genetic syndrome, the exact prevalence of which is unknown.

The syndrome as named combines four previously separately identified and named disorders, Mingarelli, Malpuech, Michels and Carnevale, which are now known collectively as 3MC.

Main symptoms of the syndrome include developmental delay, and unique facial features, including features affecting the eyes.

What gene changes cause 3MC syndrome?

Mutations to the COLEC11, COLEC10 and MASP1 genes are responsible for the syndrome which is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of 3MC syndrome?

Unique facial features of the syndrome include widely spaced eyes, narrowing of the eye opening, droopy eyelids, high arched eyebrows and a short stature. A cleft lip and palate are also potential syndromes.

Other associated symptoms include developmental delay, intellectual delay, hearing loss and slow growth in childhood.

How does someone get tested for 3MC syndrome?

The initial testing for 3MC syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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