Paula and Bobby
Parents of Lillie
Three M syndrome
What is Three M syndrome?
It is a rare genetic syndrome that causes skeletal abnormalities primarily. Slow growth is also a defining characteristic of the syndrome and this slow growth continues throughout childhood and into adulthood. There are currently around 100 reported cases of the syndrome worldwide.
A variant of the syndrome known asYakut short stature syndrome has been reported in the isolated Yakut population in Siberia, Russia. This variant of the syndrome also presents with breathing difficulties and issues that can be life threatening in infancy.
What gene changes cause Three M syndrome?
Changes in the CUL7 gene are responsible for the majority of cases of the syndrome, around ¾ of all diagnosed cases are caused by this particular gene. Around 16% of cases of the syndrome are caused by mutations in the OBSL1 gene. And some patients have been found to have mutations in the CCDC8 gene, although probably there are other unidentified genes remaining.
The syndrome 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 Three M syndrome?
Very slow growth is a defining characteristic of the syndrome, and this continues into adolescence. Generally affected individuals do not grow taller than 4 feet to 4 feet 6 inches.
Unique facial features of the syndrome can vary. Some individuals have a head that measures a normal size but which looks larger in proportion to the rest of the body. In other individuals their head may be unusually long and narrow.
Other facial features include a triangular face, a broad and prominent forehead, pointed chin, a sunken midface, large ears, full eyebrows, an upturned nose and a long philtrum, prominent mouth and full lips.
An abnormal curving of the spine is another feature of the syndrome. As is curving of the fingers.
How does someone get tested for Three M syndrome?
The initial testing for Three M 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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