Paula and Bobby
Parents of Lillie
Microcephalic Osteodysplastic Primordial Dwarfism 2
What is Microcephalic Osteodysplastic Primordial Dwarfism 2?
It is a rare genetic syndrome. Dwarfism, an exceptionally short stature, skeletal abnormalities and a small head characterize the syndrome. These symptoms begin before birth.
What gene changes cause Microcephalic Osteodysplastic Primordial Dwarfism 2?
Changes in the PCNT gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
What are the main symptoms of Microcephalic Osteodysplastic Primordial Dwarfism 2?
The main symptoms of the syndrome are dwarfism, a very short stature, and a very small head. This delayed and restricted growth can usually be identified before birth. This also leads to the development of a smaller brain size although this does not affect intellectual development.
Skeletal abnormalities associated with the syndrome include scoliosis (curving of the spine), hip dysplasia (affecting the joints in the hip), shorter wrist bones and a thinking of the bones found in the arms and legs.
Unique facial features of the syndrome include a prominent nose, full cheeks, a long midface, a small jaw, small teeth and farsightedness. Some individuals also develop lighter or darker skin coloring.
Blood vessel abnormalities are common with the syndrome. This can include a bulge in one of the blood vessels found at the center of the brain. Known as aneurysms these can be dangerous if they burst and cause bleeding within the brain. Some individuals are affected by Moyamoya disease where the arteries found at the base of the brain are narrower than they should be, this in turn can restrict blood flow. While treatable these symptoms can increase the risk of stroke in affected individuals.
How does someone get tested for Microcephalic Osteodysplastic Primordial Dwarfism 2?
The initial testing for Microcephalic Osteodysplastic Primordial Dwarfism 2 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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