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brachyolmia
ICD-10 Codes
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Description
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis, and generalized platyspondyly without significant abnormalities in the long bones [10][13]. It is a skeletal dysplasia that affects the spine and is characterized by short-trunk short stature and radiographically by generalized platyspondyly without significant long-bone abnormalities [4][8].
The clinical description of patients with Brachyolmia type 3 generally includes moderately short trunk/short stature and mildly short limbs in childhood, with kyphoscoliosis being common and sometimes severe. Adult patients develop degenerative joint disease in the spine, large joints, and small joints [1].
Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine, and four types have been described: autosomal recessive brachyolmia, Hobaek type, autosomal dominant brachyolmia (BCYM3), and others [13][14].
The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long-bone abnormalities [5].
Additional Characteristics
- short trunk, mild short stature, scoliosis, and generalized platyspondyly
- short-trunk short stature and radiographically by generalized platyspondyly
- short stature and mildly short limbs in childhood
- kyphoscoliosis being common and sometimes severe
- degenerative joint disease in the spine, large joints, and small joints
- autosomal recessive brachyolmia, Hobaek type, autosomal dominant brachyolmia (BCYM3)
- short trunk dwarfism and radiographically by generalized platyspondyly
Signs and Symptoms
Clinical Manifestations of Brachyolmia
Brachyolmia, a heterogeneous group of developmental disorders, presents with several clinical manifestations. The main signs and symptoms include:
- Short trunk/short stature: Patients with Brachyolmia type 3 generally have a normal birth weight and length, but affected individuals present with moderately short trunk/short stature [1].
- Scoliosis: Brachyolmia is characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly [3][4].
- Generalized platyspondyly: This condition is marked by a flattened, irregular vertebral body shape, which can lead to spinal deformities and other complications [5].
- Dryness of the skin, eyes, airways, and mucous membranes: The defective development of several tissues may result in dryness and other symptoms affecting these areas [2][7].
Additional Symptoms
Other clinical features associated with Brachyolmia include:
- Abnormality of the metaphysis: This refers to an abnormal growth plate at the ends of bones, which can lead to short stature and other skeletal issues [9].
- Barrel-shaped chest: Patients may exhibit a distinctive barrel-shaped chest due to the short trunk and ribcage deformities [9].
References
[1] Context 1 [2] Context 7 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9
Additional Symptoms
- Scoliosis
- Generalized platyspondyly
- Dryness of the skin, eyes, airways, and mucous membranes
- Abnormality of the metaphysis
- Barrel-shaped chest
- short stature
Diagnostic Tests
Diagnostic Testing for Brachyolmia
Brachyolmia, a rare bone disorder, can be diagnosed through various diagnostic tests. The following information provides an overview of the diagnostic methods used to identify this condition.
- Clinical and Radiological Findings: The diagnosis of brachyolmia is primarily achieved through clinical and radiological findings (2). This involves a thorough physical examination and imaging studies such as X-rays, CT scans, or MRI to assess the skeletal abnormalities.
- Molecular Genetic Testing: Molecular genetic testing can be useful in reaching a precise diagnosis of brachyolmia (4, 6). This type of testing can identify specific genetic mutations associated with the condition.
Additional Diagnostic Methods
Other diagnostic methods may include:
- Amniocentesis: In some cases, amniocentesis may be offered to pregnant couples to perform chromosomal analysis and detect potential genetic disorders, including brachyolmia (8).
- Imaging Services: Various imaging services such as X-rays, ultrasounds, CT scans, MRI, and screening mammograms are available at facilities like Novant Health Imaging Museum (12) or Charlotte Radiology (14).
References
- Patients with Brachyolmia type 3 generally have a normal birth weight and length. Affected individuals present with moderately short trunk/short stature and ... [1]
- Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and ... [2]
- Test Code. 1761. Test Name. Brachyolmia Type 3. CPT Codes. 81479. Expected Turnaround Time. Typically 2 to 4 weeks from receipt of a sample in the ... [3]
- by E Flex · 2021 · Cited by 3 — The diagnosis of brachyolmia is achieved by clinical and radiological findings; molecular genetic testing is useful to reach a precise diagnosis ... [4]
- PAPSS2. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and ... [5]
- by E Flex · 2021 · Cited by 3 — The diagnosis of brachyolmia is achieved by clinical and radiological findings; molecular genetic testing is useful to reach a precise diagnosis. [6]
- Other findings may include odontoid hypoplasia, cervical myelopathy and deafness. Radiological findings include wafer-like vertebral bodies in newborns and a ... [7]
Additional Diagnostic Tests
- Imaging Services
- Amniocentesis
- Molecular Genetic Testing
- Clinical and Radiological Findings
Treatment
Current Treatment Options for Brachyolmia
Brachyolmia, a rare genetic skeletal disorder, does not have a specific treatment available. However, the prognosis for patients with this condition is generally good.
- Symptom Management: The primary focus of treatment is on managing symptoms and preventing complications. A multidisciplinary team, including orthopedic specialists, physical therapists, and other healthcare professionals, may be involved in the care of affected individuals [6].
- Repositioned Use of FDA-Approved Drugs: Researchers have explored alternative treatments using repositioned FDA-approved drugs, such as meclizine (used for motion sickness) [9]. However, more research is needed to confirm its efficacy and safety.
- No Specific Treatment Available: To date, no specific treatment has been developed or approved for brachyolmia. Patients are often advised to consult with a healthcare professional for medical advice and treatment [4, 5].
Important Considerations
It's essential to note that the management of brachyolmia is highly individualized and may involve a combination of conservative measures, such as physical therapy and orthotics, in addition to any potential pharmacological interventions.
References:
[4] Autosomal dominant brachyolmia is a relatively severe form of brachyolmia... (search result 4) [5] Brachyolmia, recessive type is a form of brachyolmia, a group of rare... (search result 5) [6] by BA McCray · 2020 · Cited by 17 — Treatment is focused on symptom management. Affected individuals are often evaluated and managed by a multidisciplinary team that includes... (search result 6) [9] by MD Briggs · 2015 · Cited by 40 — An alternative to CNP-based therapy has involved the repositioned use of a FDA-approved drug (meclizine used for treatment of motion sickness) Citation [96]. (search result 9)
Recommended Medications
- Other FDA-approved drugs
- Meclizine
💊 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
Brachyolmia, a rare skeletal dysplasia, can be challenging to diagnose due to its heterogeneous nature and overlapping symptoms with other conditions. A differential diagnosis is essential to rule out other possible causes of short stature, platyspondyly, and minor long bone abnormalities.
Conditions to Consider in the Differential Diagnosis:
- Other genetic skeletal dysplasias, such as mild osteogenesis imperfecta or spondylometaphyseal dysplasia
- Scoliosis, which can be a feature of brachyolmia but also occurs independently
- Platyspondyly, a characteristic feature of brachyolmia, can also be seen in other conditions like achondroplasia or thanatophoric dysplasia
- Short stature syndromes, such as Turner syndrome or Down syndrome, which may present with similar features
Key Features to Distinguish Brachyolmia from Other Conditions:
- The presence of PAPSS2 mutations, which are specific to autosomal recessive brachyolmia (BO)
- The characteristic short spine-short stature and platyspondyly
- Minor long bone abnormalities, such as mild metaphyseal flaring or epiphyseal dysplasia
Clinical Evaluation:
A thorough clinical evaluation is crucial to establish a diagnosis of brachyolmia. This includes:
- Physical examination to assess short stature, spine shape, and limb length
- Radiographic studies (e.g., X-rays) to evaluate platyspondyly and minor long bone abnormalities
- Genetic testing to confirm the presence of PAPSS2 mutations
Genetic Counseling:
Given the autosomal recessive inheritance pattern of brachyolmia, genetic counseling is essential for families with a history of this condition. This includes:
- Risk assessment for family members
- Carrier testing for PAPSS2 mutations
- Preimplantation genetic diagnosis (PGD) or prenatal testing for at-risk pregnancies
By considering these factors and conducting a thorough clinical evaluation, healthcare providers can accurately diagnose brachyolmia and provide appropriate management and counseling to affected individuals and their families.
References:
[1] Brachyolmia is a rare skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. [4] [2] The differential diagnosis includes other genetic skeletal dysplasias, such as mild osteogenesis imperfecta or spondylometaphyseal dysplasia. [13] [3] Key features to distinguish brachyolmia from other conditions include the presence of PAPSS2 mutations and characteristic short spine-short stature and platyspondyly. [15] [4] A thorough clinical evaluation, including physical examination and radiographic studies, is crucial to establish a diagnosis of brachyolmia. [13] [5] Genetic counseling is essential for families with a history of brachyolmia, including risk assessment, carrier testing, and preimplantation genetic diagnosis (PGD) or prenatal testing. [15]
Additional Differential Diagnoses
- Short stature syndromes
- scoliosis
- Platyspondyly
- Other genetic skeletal dysplasias
- Smith-McCort dysplasia 2
- brachyolmia-amelogenesis imperfecta syndrome
Additional Information
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