Sclerosteosis (SOST)

What is Sclerosteosis?

It 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 a number of 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 the 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 Sclerosteosis 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.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. 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 which occurs during the reproductive process.

Read more