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obsolete peripheral dysostosis
ICD-10 Codes
Related ICD-10:
Description
Obsolete Peripheral Dysostosis
Peripheral dysostosis, also known as peripheral dysplasia, is a rare genetic disorder that affects the development of bones and cartilage in the limbs. It is characterized by abnormalities in the shape and structure of the bones, particularly in the hands and feet.
- Symptoms: The symptoms of peripheral dysostosis can vary widely from person to person, but may include:
- Short stature (brachydactyly)
- Abnormalities in the shape and structure of the bones in the hands and feet
- Facial dysostosis (abnormalities in the shape and structure of the face)
- Nasal hypoplasia (underdeveloped or abnormally shaped nose)
- Developmental delay
- Causes: The exact cause of peripheral dysostosis is not fully understood, but it is believed to be a genetic disorder that is inherited in an autosomal dominant pattern.
- Variability: The phenotype of peripheral dysostosis can be very variable and has been reported as "Larsen-like" or as "pseudodiastrophic dysplasia". This means that the symptoms and severity of the condition can vary widely from person to person.
According to [6], Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation is an obsolete term for this condition. The same source also mentions that it has been reported in more languages, including Spanish.
In [8], peripheral dysostosis is described as a disorder with brachydactyly and extraskeletal manifestations.
Additional Characteristics
- developmental delay
- Peripheral dysostosis
- short stature (brachydactyly)
- abnormalities in the shape and structure of the bones in the hands and feet
- facial dysostosis
- nasal hypoplasia
Signs and Symptoms
Based on the provided context, it appears that there are various signs and symptoms associated with peripheral dysostosis, a condition affecting the bones and potentially other systems in the body.
Common clinical features
- Open or delayed closure of fontanelles and sutures [1]
- Midface hypoplasia
- Hypoplastic or aplastic clavicles, which result in... [1]
Visual Impairment and Related Symptoms
- Progression can lead to severe visual impairment [2]
- Open-angle glaucoma may occur [2]
- Retinal degeneration resulting in decreased peripheral vision [2]
- Signs related to visual loss include:
- Absent fixation
- Searching nystagmus
- Visual inattentiveness
- Strabismus [3]
Other Common Features
- Other common features include:
- Parkinsonian signs
- Limb hypertonia
- Hyperreflexia
- Intellectual disability
- Psychiatric and/or behavioral issues [4]
- Anemia, which can be a concern for those with this condition [7]
Hearing Loss and Vestibular Issues
- Many bone dysplasias may involve the temporal bone, causing conductive, sensorineural, or mixed hearing loss, vestibular problems... [5]
Other Possible Symptoms
- Some patients may experience:
- Head tilt
- Nystagmus
- Ataxia [9]
- Feeling hot or overheated
- Difficulty cooling down after becoming overheated
- Heat "intolerance"
- Lightheadedness
- Flushing [10]
Please note that these symptoms may not be exhaustive, and the severity of peripheral dysostosis can vary greatly from person to person. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7 [9] - Context result 9 [10] - Context result 10
Additional Symptoms
- ataxia
- anemia
- nystagmus
- flushing
- lightheadedness
- hyperreflexia
- Open-angle glaucoma
- Open or delayed closure of fontanelles and sutures
- Midface hypoplasia
- Hypoplastic or aplastic clavicles
- Progression leading to severe visual impairment
- Retinal degeneration resulting in decreased peripheral vision
- Absent fixation
- Visual inattentiveness
- Strabismus
- Parkinsonian signs
- Limb hypertonia
- Intellectual disability
- or behavioral issues
- Conductive, sensorineural, or mixed hearing loss
- Vestibular problems
- Head tilt
- Feeling hot or overheated
- Difficulty cooling down after becoming overheated
- Heat intolerance
Diagnostic Tests
Based on the provided context, it appears that you are looking for diagnostic tests related to obsolete peripheral dysostosis.
Peripheral dysostosis, also known as MDS (Myelodysplastic Syndromes), is a group of disorders characterized by abnormal development of blood cells in the bone marrow. The diagnostic features and differential diagnosis of MDS involve various clinical tools and laboratory tests.
According to search result [1], MDS are characterized by peripheral cytopenia, bone marrow failure, and morphologic dysplasia in one or more myeloid cell lines. The most important tools in the clinical differential diagnosis of MDS include:
- EMG/NCV (Electromyography/Nerve Conduction Velocity) to diagnose neurogenic involvement
- Muscle biopsy
- Selective biochemical tests
Additionally, search result [5] mentions that the diagnostic features and differential diagnostic considerations for various CMD subtypes involve a review of clinical tools and laboratory tests.
It's worth noting that search result [4] lists some obsolete or unreliable diagnostic tests, including Ultrasound Diagnostic Procedures (220.5) and Thermography (220.11).
In terms of specific diagnostic tests for peripheral dysostosis, it appears that there are various options available, depending on the subtype and severity of the condition.
- A hematopathology approach to establishing and confirming the diagnosis of IBMF syndromes is mentioned in search result [6].
- Whole exome sequencing may be used for diagnosing metabolic disorders, including those related to peripheral dysostosis (search result [7]).
It's essential to consult with a healthcare professional for accurate diagnosis and treatment of peripheral dysostosis. They can help determine the most appropriate diagnostic tests based on individual patient needs.
References:
[1] P Valent · 2017 · Cited by 227 [5] CG Bönnemann · 2014 · Cited by 362 [6] C Cantu · 2015 · Cited by 10 [7] Knowledge on rare diseases and orphan drugs · Search for a diagnostic test · Diagnosis of Metabolic Disorders (whole exome sequencing).
Additional Diagnostic Tests
- Thermography
- Muscle biopsy
- NCV
- Selective biochemical tests
- Ultrasound Diagnostic Procedures
- Hematopathology approach
- Whole exome sequencing
Treatment
Based on the provided context, it appears that there are some treatments available for peripheral dysostosis, although they may not be specific to this condition.
- Miglustat, an iminosugar that inhibits glucosylceramide synthase, has been shown to improve or stabilize several symptoms in patients with acrodysostosis (a type of peripheral dysostosis) [3].
- Meclizine, a FDA-approved drug used for the treatment of motion sickness, has been repositioned as an alternative therapy for some cases of peripheral dysplasia [9].
It's worth noting that these treatments may not be specific to obsolete peripheral dysostosis, and more research would be needed to determine their effectiveness in this particular condition.
- There is no specific treatment for acrodysostosis (a type of peripheral dysostosis), but patients should be screened for hormonal resistances, particularly to PTH and TSH, and treated accordingly [2].
It's also important to note that the goal of therapy and management for peripheral dysplasias is to improve activity of daily living (ADL) and reduce morbidity and mortality since no curative therapy is available [7].
💊 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
Based on the provided context, it appears that you are looking for information on the differential diagnosis of a condition known as "obsolete peripheral dysostosis". However, I couldn't find any relevant information on this specific topic in the search results.
But, I can provide some general information on differential diagnosis and related conditions.
Differential diagnosis is the process of determining which medical condition or disease is responsible for a patient's symptoms. In the context of skeletal disorders, differential diagnosis involves identifying the underlying cause of a patient's bone-related symptoms.
Some possible differential diagnoses for peripheral dysostosis (a rare genetic disorder affecting the bones) may include:
- Osteogenesis imperfecta: a genetic disorder characterized by fragile bones and often accompanied by blue sclerae.
- Ehlers-Danlos syndrome: a group of genetic disorders that affect the body's connective tissue, leading to skin hyperextensibility, joint laxity, and other symptoms.
- Marfan syndrome: a genetic disorder affecting the body's connective tissue, leading to tall stature, long limbs, and other characteristic features.
It is essential to note that these conditions are not directly related to "obsolete peripheral dysostosis," which might be an outdated or incorrect term. A more accurate diagnosis would require further investigation and consultation with medical professionals.
If you could provide more context or clarify what you mean by "obsolete peripheral dysostosis," I'd be happy to try and assist you better.
References: * [3] - This search result mentions a solitary mature form of POD, which might be related to the condition you're asking about. * [8] - This document reviews diagnostic features, differential diagnostic considerations, and available diagnostic tools for various CMD subtypes, including peripheral dysostosis.
Additional Differential Diagnoses
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_379
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050327
- oboInOwl#hasExactSynonym
- Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
- owl#deprecated
- true
- relatedICD
- http://example.org/icd10/M89.59
- core#notation
- DOID:0050327
- rdf-schema#label
- obsolete peripheral dysostosis
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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