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sclerosteosis
ICD-10 Codes
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Description
Sclerosteosis is a rare and severe bone disorder characterized by progressive skeletal overgrowth, which can lead to significant enlargement of the jaw and facial bones [1]. This condition is often associated with syndactyly, a variable manifestation where there is an abnormal connection between two or more fingers or toes [2].
The main clinical features of sclerosteosis include:
- Progressive skeletal overgrowth, most pronounced in the skull and mandible
- Enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion and increased intracranial pressure
- Syndactyly, a variable manifestation where there is an abnormal connection between two or more fingers or toes [3]
Sclerosteosis is caused by loss-of-function mutations in the SOST gene, which encodes a secreted glycoprotein called sclerostin [4]. This genetic mutation leads to excessive bone formation (hyperostosis), resulting in the characteristic symptoms of the disorder.
In summary, sclerosteosis is a rare and severe bone disorder characterized by progressive skeletal overgrowth, syndactyly, and enlargement of the jaw and facial bones. It is caused by mutations in the SOST gene and can lead to significant complications if left untreated.
References:
[1] Context result 4 [2] Context result 5 [3] Context result 7 [4] Context result 9
Additional Characteristics
- Syndactyly
- Progressive skeletal overgrowth
- Enlargement of the jaw and facial bones
- Excessive bone formation (hyperostosis)
Signs and Symptoms
Based on my analysis of the search results, I was unable to find any relevant information on signs and symptoms of sclerosteosis.
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If you have any specific questions about sclerosteosis, such as its definition, causes, or treatment options, I may be able to provide some general information on the topic.
Please note that my previous statement was based on the search results provided, and I did not find any relevant information on signs and symptoms of sclerosteosis. If you would like me to try again or ask something else, please let me know.
However, since you asked for a response despite the lack of relevant search results, I will provide some general information on sclerosteosis:
Sclerosteosis is a rare genetic disorder that affects bone growth and development. It is characterized by an overgrowth of bones in the skull, face, and limbs, which can lead to various complications such as facial deformity, hearing loss, and vision problems.
The symptoms of sclerosteosis may include:
- Facial deformity: Sclerosteosis can cause an overgrowth of bones in the face, leading to a characteristic "bulldog-like" appearance.
- Hearing loss: The condition can affect the development of the ear bones, leading to hearing loss or other auditory problems.
- Vision problems: Sclerosteosis can also affect the development of the eye socket and surrounding bones, leading to vision problems or blindness.
- Other complications: In some cases, sclerosteosis can lead to other complications such as dental problems, respiratory issues, or neurological symptoms.
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Additional Symptoms
- Neurological symptoms
- Respiratory issues
- Hearing loss
- Vision problems
- Dental problems
- Facial deformity
Diagnostic Tests
Sclerosteosis, also known as SOST-related sclerosing bone dysplasia, is a rare autosomal recessive bone disorder characterized by excessive bone formation (hyperostosis) and other skeletal abnormalities.
Diagnostic tests for sclerosteosis:
- Genetic testing: Genetic analysis can confirm the diagnosis of sclerosteosis by identifying mutations in the SOST gene. This test can be performed on a blood sample or genomic DNA.
- Radiographic imaging: Radiographs (X-rays) and other imaging studies, such as CT scans or MRI, can show characteristic features of sclerosteosis, including:
- Hyperostosis of the skull and tubular bones [6]
- Syndactyly (webbed fingers or toes), which is common in early childhood [7]
- Blood tests: Blood samples can be used to analyze for genetic mutations associated with sclerosteosis.
It's worth noting that a diagnosis of sclerosteosis typically involves a combination of clinical evaluation, radiographic imaging, and genetic testing. A healthcare professional should consult the relevant medical literature, such as [8], for more information on diagnostic criteria and testing protocols.
References: [1] - Not applicable [2] - Not applicable [3] - Not applicable [4] - Not applicable [5] - This is not a reference but rather an instruction to provide specimen types. [6] Sclerosteosis is a rare autosomal recessive bone disorder marked by hyperostosis of the skull and tubular bones. [6] [7] In sclerosteosis, the skeleton is radiographically normal in early childhood except for syndactyly, which is common and most often involves the ... [7] [8] Integrated disease information for Sclerosteosis including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data ... [8] [9] Blueprint Genetics' Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis. The ... [9]
Additional Diagnostic Tests
- Blood tests
- Genetic testing
- Radiographic imaging
Treatment
Sclerosteosis is a rare genetic disorder characterized by high bone mass, and unfortunately, there is no medical treatment available to cure the condition.
However, some forms of osteop
Recommended Medications
- No drug treatment available for Sclerosteosis
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Sclerosteosis
Sclerosteosis, a rare autosomal recessive disorder, presents with excessive bone overgrowth, particularly in the skull, mandible, and tubular bones. When diagnosing this condition, it's essential to consider differential diagnoses that can mimic its clinical manifestations.
Key Differential Diagnoses:
- Van Buchem disease: A sclerosing bone dysplasia characterized by generalized hyperostosis and sclerosis, leading to a markedly thickened skull.
- Camurati-Engelmann disease: Another sclerosing bone dysplasia that can present with similar clinical features, including facial distortion and hand malformations.
- Acromegaly: A more commonly recognized condition that can be excluded in sclerosteosis through differential diagnosis.
Clinical Manifestations to Consider:
- Facial distortion
- Tall stature
- Hand malformations (including variable syndactyly)
- Radial deviation of the hands
These clinical manifestations are crucial for differentiating sclerosteosis from other conditions. A thorough understanding of these features can aid in accurate diagnosis and treatment planning.
References:
- [1] Sclerosteosis is a rare autosomal recessive disorder characterized by excessive bone overgrowth, particularly in the skull, mandible, and tubular bones.
- [3] The main differential diagnoses with some differentiating traits are provided (Table 1).
- [6] Presence of syndactyly and prominent jaw involvement can help differentiate sclerosteosis from other conditions.
By considering these key differential diagnoses and clinical manifestations, healthcare professionals can accurately diagnose and manage sclerosteosis.
Additional Differential Diagnoses
- Van Buchem disease
- acromegaly
- Camurati-Engelmann disease
Additional Information
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- A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
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