What is Osteopathia Striata with Cranial Sclerosis?
Osteopathia Striata with Cranial Sclerosis 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.
This syndrome is also known as:
Horan-Beighton syndrome; OSCS; Hyperostosis generalisata with striations
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 the 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 is it diagnosed?
To find out if someone has a diagnosis of Osteopathia with Cranial Sclerosis, 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.
