Paula and Bobby
Parents of Lillie
Microcephaly 5, primary autosomal recessive
What is Microcephaly, Primary Autosomal Recessive?
Also often referred to as MPCH it is a rare genetic syndrome that presents with a very small head and a very small brain. There are around 200 families currently recorded as diagnosed with the syndrome. The syndrome has a much higher prevalence in some regions of the world, specifically North Pakistan.
What gene changes cause Microcephaly, Primary Autosomal Recessive?
Around 50% of all cases of the syndrome are caused by mutations in the ASPM gene. 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 Microcephaly, Primary Autosomal Recessive?
A very small head and a very small brain are defining features of the syndrome. However this smallness of the brain does not generally lead to any issues concerning the structure of the brain.
However intellectual disability is a symptom of the syndrome. The disability may be mild to moderate. This often leads to delayed speech and language development as well. Motor skill development tends to be only slightly delayed.
There does not tend to be any other main symptoms connected with or caused by the syndrome. In some cases symptoms might include mild seizures, behavior and attention issues or a shorter stature than other family members.
How does someone get tested for Microcephaly, Primary Autosomal Recessive?
The initial testing for Microcephaly, Primary Autosomal Recessive 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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