What is Microcephaly, Primary, Autosomal Recessive?
Also often referred to as MPCH it is a group of rare genetic syndromes that presents with a very small head and a very small brain. There are around 200 families currently recorded as diagnosed with the syndrome. Microcephaly, Primary, Autosomal Recessive syndrome has a much higher prevalence in some regions of the world, specifically North Pakistan.
What gene changes cause Microcephaly, Primary or autosomal Recessive?
Around 50% of all cases of the syndrome are caused by mutations in the ASPM gene. However, there are around 30 genes so far described. The syndrome is inherited in an autosomal recessive pattern mainly, but some genes with similar clinical characteristics may exhibit an autosomal dominant 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 do 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.
Possible clinical traits/features:
Global developmental delay, Proptosis, Microcephaly, Autosomal recessive inheritance, Sensorineural hearing impairment, Sloping forehead, Intellectual disability, moderate, Simplified gyral pattern, Small cerebral cortex
How is it diagnosed?
To find out if someone has a diagnosis of Microcephaly, Primary or autosomal Recessive, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
