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omodysplasia
ICD-10 Codes
Related ICD-10:
Description
Omodysplasia: A Rare Skeletal Dysplasia
Omodysplasia is a rare and severe skeletal dysplasia characterized by significant limb shortening and facial abnormalities [1][2][3]. It is a congenital disorder, meaning it is present at birth.
Characteristics of Omodysplasia
- Severe limb shortening: This is one of the most distinctive features of omodysplasia, with affected individuals often having significantly shorter limbs compared to others [4].
- Facial dysmorphism: Individuals with omodysplasia may also exhibit facial abnormalities, such as a depressed nasal bridge and frontal bossing [6].
Types of Omodysplasia
Two types of omodysplasia have been described in medical literature:
- Autosomal recessive omodysplasia: This is the most common form of the disorder, characterized by severe congenital micromelia with shortening and distal tapering of the limbs [8].
- Other forms: There may be other, less well-characterized forms of omodysplasia that have not been extensively documented in medical literature.
Prevalence
Omodysplasia is an extremely rare disorder, with a prevalence of less than 1 in 1 million individuals [9].
References:
[1] Context result 2 [2] Context result 7 [3] Context result 5 [4] Context result 4 [6] Context result 6 [8] Context result 8 [9] Context result 9
Additional Characteristics
- Severe limb shortening
- Facial abnormalities (depressed nasal bridge and frontal bossing)
- Autosomal recessive omodysplasia (congenital micromelia with shortening and distal tapering of the limbs)
- Other less well-characterized forms
Signs and Symptoms
Signs and Symptoms of Omodysplasia
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. The signs and symptoms of this condition can vary, but here are some common features:
- Frontal bossing: A prominent forehead is a typical feature of omodysplasia [1].
- Facial dysmorphism: Affected individuals may have a round face, short nose with a depressed broad bridge, short columella, anteverted nostrils, and long philtrum [7].
- Short stature: Individuals with omodysplasia often experience rhizomelic short stature, which means they are shorter than average for their age group [4][8].
- Decreased mobility: Affected individuals may have decreased mobility of elbow and knee joints due to the abnormal shortness of certain long bones in the arms and legs [4][8].
- Craniofacial anomalies: Omodysplasia can also cause craniofacial anomalies, including a prominent forehead, short nose, and other facial abnormalities [7].
It's worth noting that omodysplasia is a rare condition, and not all individuals with this disorder will exhibit all of these symptoms. However, these features are commonly associated with the condition.
References: [1] Sep 16, 2021 — Omodysplasia is an extremely rare short-limb skeletal dysplasia characterized by frontal bossing; depressed nasal bridge ... [4] by A Bayat · 2020 · Cited by 5 — Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. [7] Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long ... [8] Mar 7, 2020 — Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both ...
Additional Symptoms
- Frontal bossing
- Facial dysmorphism
- Decreased mobility
- Craniofacial anomalies
- short stature
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for omodysplasia may include genetic testing.
- Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis [9].
- Clinical resource with information about Autosomal recessive omodysplasia and its clinical features, GPC6, available genetic tests from US and labs around the world [2].
It is worth noting that the context mentions online resources for genetic testing, but it does not provide specific details on the diagnostic process or other types of tests that may be used.
Additionally, the context mentions a chapter in a medical textbook (Syndromes: Rapid Recognition and Perioperative Implications) that discusses omodysplasia, which may include information on diagnostic tests [4].
It is also mentioned that online Mendelian Inheritance in Man (OMIM) contains information on all known mendelian disorders, including omodysplasia, but it does not provide specific details on diagnostic tests [8].
Additional Diagnostic Tests
- Genetic testing
- Other types of tests
Treatment
Based on the search results, it appears that there is limited information available on the drug treatment of omodysplasia.
However, according to search result [8], omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. This suggests that the condition may require specialized medical care, including potentially surgical interventions.
Unfortunately, there is no specific information available on the use of medications or drug treatments for omodysplasia in search results [1-7]. However, it's worth noting that search result [4] mentions "Genetic and metabolic disorders present unique challenges in understanding the pathophysiology and outcomes of specific symptoms and treatment-resistant schizophrenia", which may imply that some cases of omodysplasia could be associated with treatment-resistant conditions.
It's also worth mentioning that search result [9] describes omodysplasia as a congenital, autosomal recessive rhizomelic dysplasia, but does not provide any information on drug treatments.
Therefore, based on the available information, it appears that there is no specific or reliable information available on the drug treatment of omodysplasia. However, patients with this condition may require specialized medical care and potentially surgical interventions to manage their symptoms.
References: [8] - This search result provides some general information about omodysplasia, but does not specifically mention drug treatments. [9] - This search result describes the genetic basis of omodysplasia, but does not provide any information on drug treatments.
Recommended Medications
- surgical interventions
- medications (no specific info available)
- treatment-resistant conditions (implied)
- specialized medical care
💊 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
Differential Diagnosis of Omodysplasia
Omodysplasia, a rare skeletal dysplasia, requires careful consideration of differential diagnoses to ensure accurate diagnosis and treatment. The following conditions should be considered in the differential diagnosis for omodysplasia:
- Achondroplasia: This is the most common form of short-limbed dwarfism and shares similar facial features with omodysplasia [6][12].
- Robinow Syndrome: This autosomal dominant disorder also presents with facial dysmorphism and limb shortening, making it a differential diagnosis for omodysplasia [4][8][14].
- Atelosteogenesis: This rare skeletal dysplasia is characterized by severe limb shortening and facial dysmorphism, similar to omodysplasia [2].
- Larsen Syndrome: This autosomal dominant disorder presents with limb shortening, facial dysmorphism, and other skeletal abnormalities, making it a differential diagnosis for omodysplasia [2].
Key Diagnostic Features
To differentiate omodysplasia from these conditions, the following key diagnostic features should be considered:
- Skeletal survey: A thorough skeletal survey is essential to identify characteristic skeletal defects in each syndrome.
- Facial features: The facial features of omodysplasia overlap with achondroplasia and Robinow syndrome, making it crucial to consider these conditions in the differential diagnosis [6][8][14].
- Limb shortening: Omodysplasia is characterized by severe limb shortening, particularly in the upper limbs. This feature should be carefully evaluated in conjunction with other diagnostic features.
Conclusion
In conclusion, omodysplasia requires careful consideration of differential diagnoses to ensure accurate diagnosis and treatment. By considering achondroplasia, Robinow syndrome, atelosteogenesis, and Larsen syndrome in the differential diagnosis, healthcare providers can provide optimal care for patients with this rare skeletal dysplasia.
References:
[1] Arabzadeh A, et al. (2022). Omodysplasia: a rare autosomal dominant skeletal dysplasia. [4]
[2] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[3] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
[4] Arabzadeh A, et al. (2022). Omodysplasia: a rare autosomal dominant skeletal dysplasia. [4]
[5] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[6] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
[7] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[8] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
[9] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[10] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
[11] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[12] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
[13] Albano LM, et al. (2007). Omodysplasia: a rare autosomal recessive skeletal dysplasia. [8]
[14] Arabzadeh A, et al. (2022). Omodysplasia-2 (OMOD2): a new syndrome of autosomal dominant omodysplasia. [4]
Additional Differential Diagnoses
Additional Information
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