Paula and Bobby
Parents of Lillie
What is Mulibrey Nanism?
It is a very rare genetic syndrome characterized by extreme and severe growth delays as well as abnormalities of the muscles, liver, brain and the eyes. There are 110 cases of the syndrome reported worldwide, with the majority of these cases occurring in Finland.
What gene changes cause Mulibrey Nanism?
A change in the TRIM37 gene is responsible for causing the syndrome. It 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 Mulibrey Nanism?
The main symptom of the syndrome is growth failure that begins before birth. In infancy the main symptoms include low muscle tone and a triangular shaped face. Symptoms affecting the eyes include a yellow discolouration deep into the eyes, although this has no impact on vision. Other symptoms include a high pitched cry.
Most individuals with the syndrome will have what is known as a J-shaped sella turcica. This is a depression in a specific bone (the sphenoid bone) located at the base of the skull.
Constrictive pericarditis is a condition present with the syndrome. It is caused when the fibrous sac around the heart experiences an overgrowth. The condition is usually identified by the bluish discoloration of the lips and fingertips but it may affect other parts of the skull too.
The syndrome also affects parts of the body which may eventually lead to congestive heart failure. This includes prominent veins in the neck, congestion in the lungs, fluid accumulation in the stomach, swelling of the arms and lefts, as well as enlargement of the heart and/ or liver. Other possible medical conditions include an elevated pressure in the veins, a congestion in the pulmonary artery which serves the lungs, as well as the potential build up of fibrous tissue in the walls of the lungs.
Another symptom includes the underdevelopment of endocrine glands which in turn leads to hormone deficiencies. This can lead to delayed puberty as well as an increased risk of premature ovarian failure and tumors in affected females. Individuals are also at increased risk for Type 2 diabetes and Wilms tumor occur frequently with the syndrome.
How does someone get tested for Mulibrey Nanism?
The initial testing for Mulibrey Nanism 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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