Paula and Bobby
Parents of Lillie
Cerebrocostomandibular syndrome (CCMS)
What is Cerebrocostomandibular syndrome (CCMS)?
This rare disease is a very rare genetic syndrome. There are currently 80 cases recorded, to date.
The syndrome mainly affects the development of the ribs and jaw of affected individuals.
However it also presents with a wide range of symptoms that affect many different parts and systems of the body.
What gene changes cause Cerebrocostomandibular syndrome (CCMS)?
Mutations in the SNRPB gene have been identified as one of the causes of the syndrome. However continued research may uncover other genes that may cause the condition as some individuals with the symptoms of the syndrome do not show mutations in the SNRPB gene.
So far the majority of cases of the syndrome have been the result of de novo mutations of the gene.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Cerebrocostomandibular syndrome (CCMS)?
The main symptoms of the syndrome affect the ribs and jaw. Individuals often have ribs missing, or spaces between the ribs. They also have a narrow rib cage. Individuals are also born with a much smaller jaw than the average (micrognathia).
50% of individuals will suffer from scoliosis (sideways curvature of the spine).
The Pierre Robin sequence of symptoms is associated with this syndrome. This includes a cleft palate, a small jaw and a tongue that is positioned further back in the mouth than it should be.
Infants with the syndrome usually experience breathing and feeding difficulties as newborns. Surgery is often required in the first year of life to correct these issues.
An estimated 67% of individuals affected by the syndrome will suffer hearing loss.
50% of individuals will be affected by developmental delay. This may include intellectual disability as well.
Physical features associated with the syndrome include club feet, a small head, low weight and failure to thrive, and a short stature.
Individuals with the syndrome may also suffer from health conditions affecting the stomach, heart, kidneys and urinary tract.
How does someone get tested for Cerebrocostomandibular syndrome (CCMS)?
The initial testing for Cerebrocostomandibular syndrome (CCMS) 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.
What is FDNA Telehealth?
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