Microcephalic Osteodysplastic Primordial Dwarfism 1

What is Microcephalic Osteodysplastic Primordial Dwarfism 1?

It is a rare genetic syndrome defined by specific features. These include restricted growth, a very small head, abnormal bone development and growth, unique facial features and brain abnormalities. Life expectancy with the syndrome is low, with most affected individuals not surviving their first year of life.

What gene changes cause Microcephalic Osteodysplastic Primordial Dwarfism 1?

Changes to the RNU4ATAC gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Microcephalic Osteodysplastic Primordial Dwarfism 1?

The main symptoms of the syndrome are related to restricted growth development. These include a low birth weight, short limbs and a small head size.

Unique facial features of the syndrome include a sloping forehead, protruding ears, prominent nose, flat nasal bridge and a small jaw.

Other physical features of the syndrome include sparse hair and eyebrows, dry skin, hip or elbow dislocation.

Intellectual disability is also a symptom of the syndrome. As are specific brain anomalies. Including lissencephaly, the underdevelopment of the frontal lobes of the brane and a condition that affects the development of the nerve tissue that connects the two halves of the brain's cerebellum.

How does someone get tested for Microcephalic Osteodysplastic Primordial Dwarfism 1?

The initial testing for Microcephalic Osteodysplastic Primordial Dwarfism 1 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.

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