What is Sclerosteosis?
Sclerosteosis is a rare genetic syndrome. Most cases of the syndrome have been identified amongst the Afrikaaner population in South Africa, but cases have also been reported in the USA and Brazil.
The syndrome leads to bone overgrowth which in turn causes several health issues and symptoms.
Sclerosteosis is the most severe form of the syndromes related to SOST-related sclerosing bone dysplasia.
Syndrome Synonyms:
Cortical Hyperostosis with Syndactyly; SOST; Truswell-Hansen disease; Truswell-Hansen syndrome
What gene changes cause Sclerosteosis?
Changes in the SOST and LRP4 genes are responsible for causing the two types of this syndrome.
It is inherited in an autosomal recessive pattern.
What are the main symptoms of Sclerosteosis?
- Bone overgrowth is a main symptom of the syndrome. This leads to the development of bones that are wider and denser than normal. This overgrowth affects the bones of the skull in particular.
- Unique facial features of this syndrome, are for the most part caused by bone overgrowth. They include a large jaw, misaligned teeth, a sunken midface, bulging eyes, and a prominent forehead.
- Excessive bone overgrowth continues throughout the life of an affected individual, which at the same time alters their facial and skeletal features. Thicker than normal bones in the skull may cause extra pressure on the brain, which in some individuals triggers frequent headaches.
- This excessive bone overgrowth can also affect the cranial nerves, these nerves extend from the brain to the head and neck. The pinching of these nerves can lead to paralyzed facial muscles, hearing and vision loss, and a diminished or lost sense of smell.
- In some instances, excessive bone overgrowth can lead to issues that may be life-threatening, if they compress on the part of the brain connected to the spinal cord.
How is it diagnosed?
To find out if someone has a diagnosis of Sclerosteosis, 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.
