sclerosteosis 2

Sclerosteosis 2 is a rare severe bone dysplasia characterized by progressive skeletal overgrowth, with syndactyly being a variable manifestation. It predominantly affects the Afrikaner population of South Africa.

• Progressive skeletal overgrowth: This condition is marked by an abnormal growth and thickening of bones throughout the body, particularly in the skull.
• Variable syndactyly: Syndactyly, or webbed fingers, can be present but is not a consistent feature of this disorder.
• Predominant effect on Afrikaner population: Sclerosteosis 2 has been reported to primarily affect individuals from the Afrikaner population in South Africa.

This condition is considered rare and severe, with significant implications for affected individuals. The exact cause of sclerosteosis 2 is not fully understood but is believed to be related to genetic mutations.

References: [4] [6]

Sclerosteosis 2, also known as SOST-related sclerosing bone dysplasia, is a rare genetic disorder characterized by excessive bone formation (hyperostosis). The signs and symptoms of this condition can vary in severity and may include:

• Progressive skeletal overgrowth: This is a hallmark feature of sclerosteosis 2, where bones grow excessively, leading to an increase in bone mass.
• Distortion of the facies: The facial features are often distorted due to the excessive growth of bones, particularly in the skull and mandible.
• Syndactyly: Webbed or fused fingers (syndactyly) are a common feature, most often involving the second and third fingers.
• Recurrent facial nerve palsy: Some individuals may experience recurrent episodes of facial paralysis due to the compression of cranial nerves.
• Deafness: Hearing impairment can occur due to the narrowing of the auditory canal or other ear-related complications.
• Optic atrophy: The optic nerve may be affected, leading to vision problems.

It's essential to note that not all individuals with sclerosteosis 2 will exhibit these symptoms, and their severity can vary widely. A proper diagnosis by a medical professional is necessary for an accurate assessment of the condition.

References:

• [6] - Signs and symptoms of sclerosteosis 2 may include facial nerve palsy, deafness, and optic atrophy.
• [9] - Syndactyly, or webbed fingers, is a common feature in individuals with sclerosteosis.
• [12] - Sclerosteosis 2 is caused by mutations in the SOST gene, leading to excessive bone formation and related symptoms.

Sclerosteosis 2, also known as SOST-related sclerosing bone dysplasia, can be diagnosed through a combination of clinical and radiographic findings, as well as genetic testing.

Clinical Diagnosis

The diagnosis of sclerosteosis 2 is typically established in individuals with typical clinical and radiographic findings. These may include:

• Excessive bone formation (hyperostosis)
• Variable syndactyly (webbing of fingers or toes)
• Progressive skeletal overgrowth
• Other clinical signs and symptoms, such as those listed in [4]

Genetic Testing

Genetic analysis is recommended for individuals with a personal and/or family history of sclerosteosis 2. This can provide a molecular diagnosis of the disorder and confirm the presence of mutations in the SOST gene [9][10].

Recommended Diagnostic Tests

The following diagnostic tests may be used to diagnose sclerosteosis 2:

• Genetic testing for mutations in the SOST gene
• Clinical evaluation and radiographic imaging (e.g. X-rays, CT scans) to assess bone formation and other clinical signs and symptoms

It's worth noting that early diagnosis of sclerosteosis 2 is necessary, as it can help ensure proper management and treatment of the disorder [10].

References:

[1] Appelman-Dijkstra, N. (2019). The diagnosis of a SOST-related sclerosing bone dysplasia is established in a proband with typical clinical and radiographic findings and ...

[2] Clinical Genetic Test offered by Intergen for conditions (1): Sclerosteosis 2; Testing genes (1): LRP4 (11p11.2); Methodology includes Next-Generation ...

[9] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

[10] Early diagnosis of sclerosteosis is necessary. The diagnosis of this disease is based on clinical and radiological features and is confirmed by genetic testing ...

Based on the search results, it appears that there are limited treatment options available for sclerosteosis.

Current Treatment Options

Unfortunately, there is no specific medical treatment for sclerosteosis (1). However, some forms of osteopetrosis (malignant infantile osteopetrosis) may be treated with bone marrow transplant (1).

Management of Symptoms

The management of sclerosteosis aims to surgical correction of syndactyly, which is a common feature of the disease (5). This involves separating the fused fingers or toes.

Other Considerations

It's worth noting that radiosurgery has been explored as an alternative treatment option for patients with sclerosteosis, particularly those who experience pain relief (12). However, this modality of treatment may not be suitable for patients under acute pain attack.

**New Developments

The differential diagnosis of sclerosteosis 2 involves distinguishing it from other conditions that present with similar clinical and radiographic features.

• Van Buchem disease: Sclerosteosis 2 can be differentiated from Van Buchem disease by the presence of syndactyly (webbed fingers or toes) in the former condition, which is not typically seen in Van Buchem disease [2].
• Acromegaly: The differential diagnosis also includes acromegaly, a condition characterized by excessive growth hormone production leading to bone overgrowth. However, an endocrine examination in patients with sclerosteosis 2 may not be consistent with acromegaly [3].
• Osteopetrosis: Another condition that can be considered in the differential diagnosis is osteopetrosis, a rare genetic disorder characterized by dense bones. However, the clinical and radiographic features of sclerosteosis 2 are distinct from those seen in osteopetrosis.

It's essential to establish a correct diagnosis through clinical evaluation, radiological examination, and genetic testing to determine the underlying cause of the condition [7].

References: [1] Not applicable [2] May 12, 2016 — Syndactyly and increased height are seen in sclerosteosis, which helps to distinguish it from Van Buchem disease. [3] The differential diagnosis of bony overgrowth disorders includes acromegaly and osteopetrosis. An endocrine examination in this patient was not consistent ... [7] Early diagnosis of sclerosteosis is necessary. The diagnosis of this disease is based on clinical and radiological features and is confirmed by genetic testing ...