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3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal. The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by mutations in one of three genes: CUL7 , OBSL1 , and CCDC8. It is inherited in an autosomal recessive pattern. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty.
Source: GARD Last updated on 05-01-20
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