Three M syndrome

3M syndrome, Three M syndrome 1


Type of disease: Rare conditions

3M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. It is caused by mutations in the CUL7 gene and is inherited in an autosomal recessive pattern.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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