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anauxetic dysplasia 1
ICD-10 Codes
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Description
Anauxetic Dysplasia Description
Anauxetic dysplasia is a rare genetic disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, including:
- Short stature: Individuals with anauxetic dysplasia are born with severely short limbs and may have proportionate or disproportionate short stature.
- Skeletal abnormalities: The condition affects the development of bones, leading to unusual skeletal features such as late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region.
- Joint hypermobility: Affected individuals often exhibit an unusually large range of joint movement (hypermobility).
- Dental problems: Dental abnormalities are a common feature of anauxetic dysplasia, including hypodontia (underdeveloped teeth) and other dental issues.
- Distinctive facial features: Individuals with anauxetic dysplasia may have distinctive facial features, although the exact nature of these features can vary.
Mild intellectual disability
In some cases, individuals with anauxetic dysplasia may also experience mild intellectual disability. However, this is not a universal feature of the condition and may vary in severity from person to person.
References:
- [1] Anauxetic dysplasia Description
- [10] Description. Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features.
- [14] Description. Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features.
Additional Characteristics
- * Short stature: Individuals with anauxetic dysplasia are born with severely short limbs and may have proportionate or disproportionate short stature.
- * Skeletal abnormalities: The condition affects the development of bones, leading to unusual skeletal features such as late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region.
- * Joint hypermobility: Affected individuals often exhibit an unusually large range of joint movement (hypermobility).
- * Dental problems: Dental abnormalities are a common feature of anauxetic dysplasia, including hypodontia (underdeveloped teeth) and other dental issues.
- * Distinctive facial features: Individuals with anauxetic dysplasia may have distinctive facial features, although the exact nature of these features can vary.
Signs and Symptoms
Based on the search results, here are the signs
Additional Symptoms
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Diagnostic Tests
Diagnostic Tests for Anauxetic Dysplasia 1
Anauxetic dysplasia 1, a rare genetic disorder characterized by extremely short stature and skeletal abnormalities, can be diagnosed through various clinical molecular genetics tests. Here are some diagnostic tests that may be recommended:
- Clinical Molecular Genetics test: This test uses deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing to identify the genetic cause of anauxetic dysplasia 1 [1][2].
- Genetic analysis: A molecular diagnosis of this disorder can be provided through genetic analysis, which is recommended for individuals with a personal and/or family history of this disorder [4].
Other Diagnostic Tests
In addition to clinical molecular genetics tests, other diagnostic tests may also be used to confirm the diagnosis of anauxetic dysplasia 1. These include:
- Abdominal ultrasound: Regular abdominal ultrasounds are recommended at one- to two-year intervals, along with yearly laboratory tests including blood counts with differential, LDH [7].
- Laboratory tests: Blood counts with differential and LDH levels may be used to monitor the condition and detect any potential complications.
References
[1] Clinical Molecular Genetics test for Anauxetic dysplasia 1 and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing ... [2] Clinical Molecular Genetics test for Anauxetic dysplasia 1 and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing ... [4] 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 ... [7] by O Mäkitie · 1993 · Cited by 33 — Abdominal ultrasound is recommended at a regular one- to two-year interval, as well as yearly laboratory tests including blood counts with differential, LDH,.
Additional Diagnostic Tests
- Laboratory tests
- Abdominal ultrasound
- Genetic analysis
- Clinical Molecular Genetics test
Treatment
Anauxetic dysplasia, also known as anauxetic dysplasia 1 (ANXD1), is a rare genetic disorder characterized by extremely short stature and other skeletal abnormalities.
Treatment Overview
While there is no cure for anauxetic dysplasia, treatment focuses on managing symptoms and preventing complications. The primary goal of treatment is to improve quality of life, maximize function, and reduce the risk of infections and other health problems [9].
Medical Management
The management of anauxetic dysplasia involves a multidisciplinary approach, including:
- Infection prevention: Vaccinations and antibiotics are used to prevent and treat infections, which can be life-threatening in individuals with this condition [5].
- Bone marrow transplant: In some cases, bone marrow transplantation may be considered to improve the immune system's function [5].
- Surgical interventions: Surgery may be necessary to correct skeletal abnormalities, such as bowed legs or hip subluxation [7].
Supportive Care
Supportive care is essential in managing anauxetic dysplasia. This includes:
- Regular check-ups: Regular medical check-ups are crucial to monitor the condition and prevent complications.
- Pain management: Pain management strategies may be necessary to alleviate discomfort or pain associated with skeletal abnormalities.
- Physical therapy: Physical therapy can help improve mobility and reduce the risk of falls.
Current Research
Research is ongoing to better understand anauxetic dysplasia and develop more effective treatments. The CHH-AD spectrum disorder, which includes metaphyseal dysplasia without hypotrichosis, has been identified as a related condition [8].
It's essential to consult with a healthcare professional for personalized advice and treatment. They can provide guidance on the best course of action based on individual needs.
References:
[5] Management is focused on protecting against infection by means of vaccinations and managing infections when they occur. Bone marrow transplant has been used ...
[7] Bowing of Legs. Mild bowing of the legs (genu varum) is characteristic and may require surgical treatment. Subluxation of the hips also may require surgery.
[8] by JH Park · 2024 — Cartilage-hair hypoplasia–anauxetic dysplasia (CHH-AD) spectrum disorder is an encompassing diagnosis that includes metaphyseal dysplasia without hypotrichosis.
[9] by O Mäkitie · 2020 · Cited by 33 — There is no cure for CHH-AD spectrum disorders. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ...
Recommended Medications
- Antibiotics
- Bone marrow transplantation
- Vaccinations
💊 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 of Anauxetic Dysplasia
Anauxetic dysplasia, a rare skeletal disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, requires accurate differential diagnosis to rule out other similar conditions. Here are the key points to consider:
- Other metaphyseal dysplasias: Differential diagnosis of AD includes other metaphyseal dysplasias, such as cartilage-hair hypoplasia (CHH) and McKusick type [5].
- Clinical findings: Diagnosis is based on characteristic clinical and radiographic findings, including extremely short stature and skeletal abnormalities [2][3].
- Molecular analysis: Molecular analysis may be planned to confirm the diagnosis of anauxetic dysplasia [5].
Key Conditions to Consider in Differential Diagnosis
- Cartilage-hair hypoplasia (CHH)
- McKusick type
- Other metaphyseal dysplasias
References:
[1] Jul 1, 2017 — Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities. [2] Jul 1, 2017 — Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large ... [5] Differential diagnosis of AD includes other metaphyseal dysplasias ... On clinical diagnosis of anauxetic dysplasia, molecular analysis was planned ...
Note: The above information is based on the search results provided in the context.
Additional Differential Diagnoses
- McKusick type
- Other metaphyseal dysplasias
- cartilage-hair hypoplasia
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.