What is Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia (MICPCH)?
Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia is a rare 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.
This syndrome is also known as:
Mental Retardation, X-linked, Syndromic, NAJM Type; MRXSNA; MICPCH Syndrome
What gene change causes Intellectual Developmental Disorder with Microcephaly and 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 Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia (MICPCH)?
A primary symptom of the syndrome is severe intellectual disability. Additional developmental challenges may include sleep disturbances and repetitive behaviors like self-biting and hand flapping. Most individuals with the condition are unable 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 is it diagnosed?
To find out if someone has a diagnosis of Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia (MICPCH), 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.
