Osteopathia Striata with Cranial Sclerosis

What is Osteopathia Striata with Cranial Sclerosis?

It is a rare genetic syndrome that belongs to a group of conditions known as skeletal dysplasia disorders. The symptoms of the syndrome mainly affect the bones, as well as the growth of an affected individual.

What gene changes cause Osteopathia Striata with Cranial Sclerosis?

The syndrome is caused by changes to the AMER1 gene. It is inherited in an X-linked dominant pattern.

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 Osteopathia Striata with Cranial Sclerosis?

The main symptoms of the syndrome are congenital, making them present at birth.

Skeletal abnormalities are main features of the syndrome and they usually occur at the end of the long bones of the limbs. These abnormalities include sclerosis, which is a hardening of the bones of the face and skull. A very large head is common also.

In some individuals developmental delay is diagnosed, along with hearing loss and heart defects.

How does someone get tested for Osteopathia Striata with Cranial Sclerosis?

The initial testing for Osteopathia Striata with Cranial Sclerosis 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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