Paula and Bobby
Parents of Lillie
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
What is Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)?
This rare disease is a genetic condition affecting brain development. Intellectual disability is the main symptom of the syndrome.
Males have more severe symptoms, due to the nature of inheritance of the syndrome, but are less likely to survive to birth.
What gene changes cause Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)?
A mutation in the CASK gene causes the syndrome. The syndrome is inherited in a X-linked pattern.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.
What are the main symptoms of Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)?
Severe intellectual disability is a main symptom of the syndrome. Other symptoms relating to mental development can include issues sleeping and repetitive behaviors, including self-biting and hand flapping. Most affected individuals do not learn to walk or speak.
A very small head is a common symptom of the syndrome. As is underdevelopment of the cerebellum and the pons parts of the brain.
Hearing loss and eye abnormalities are also common symptoms of the syndrome. These eye abnormalities might include crossed eyes, and underdeveloped optic nerves (these nerves carry information from the eyes to the brain).
Unique facial features include a short nose, arched eyebrows, a long philtrum, an upper jaw that protrudes a short chin and large ears.
How does someone get tested for Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)?
The initial testing for Mental retardation and microcephaly with pontine and cerebellar hypoplasia syndrome 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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