Cerebellar Hypoplasia with Endosteal Sclerosis

What is Cerebellar Hypoplasia with Endosteal Sclerosis?

Cerebellar Hypoplasia with Endosteal Sclerosis is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Charrow et al., (1991) reported a brother and sister, and a further isolated male, with hypoplasia of the cerebellar vermis and hemispheres, microcephaly, oligodontia, congenital hip dislocation, developmental delay, sclerosis of the long bones and spine and medullary space stenosis. They point out that Stoll et al., (1986) reported a similar case. There are some similarities to El Khazen (1986) (qv).
Ozgen et al., (2005) reported a further patient, followed up for 11 years. Motor milestones were delayed and at 2 years she was referred because of a gait disturbance. She was dysarthric, ataxic, but without nystagmus. Reflexes were brisk. Facially (no pictures shown), her philtrum was long and her tooth erruption was irregular. One optic disc was pale. MRI showed severely delayed myelination and atrophy of both cerebellar vermis and hemispheres. Because of a hip problem she underwent surgery, and the pathologist found subcortical sclerosis. Over the years nothing changed, except that her eventual IQ was 64, she developed nystagmus and a Babinski reflex developed. The bony changes remained static.

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* This information is courtesy of the L M D.

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What gene changes cause Cerebellar Hypoplasia with Endosteal Sclerosis?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 213002 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
POLR3B - 12q23.3

What are the main symptoms of Cerebellar Hypoplasia with Endosteal Sclerosis?

The typical symptoms of the syndrome are:
Nystagmus, Oligodontia, Autosomal recessive inheritance, Congenital hip dislocation, Cerebellar hypoplasia, Ataxia, Global developmental delay, Short stature, Strabismus, Microcephaly

How does someone get tested for Cerebellar Hypoplasia with Endosteal Sclerosis?

The initial testing for Cerebellar Hypoplasia with Endosteal Sclerosis can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.

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