Three M Syndrome 1 (3M1)
Three M Syndrome 1 (3M1)
OMIM number: 273750
Comments closing date: 06/02/2025
3M syndrome is an autosomal recessive condition
where an individual must have two affected genes
to show the clinical signs and symptoms. 3M
syndrome causes affected individuals to be poorly
grown during pregnancy and also have poor
growth after birth. Affected children are of short
stature and have characteristic facial features
including triangular face, protruding forehead, flat
nose, upturned nostrils, full lips and a pointed chin.
They also have slender long bones and the height
of their spinal vertebrae is increased. This can
lead to abnormalities in the shape of the spine.
They have normal brain and internal organ
development. There can be hip dislocation at birth
as the joints are loose. They may also have short
necks, square shoulders, chest abnormalities.
Review date: 2 January 2027
