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atelosteogenesis
ICD-10 Codes
Related ICD-10:
Description
Atelosteogenesis refers to a group of rare skeletal dysplasias that are characterized by abnormalities in the development of bones throughout the body.
- Short-limbed dwarfism: Individuals with atelosteogenesis often have short arms and legs, which can be severely shortened in some cases [6].
- Lethal chondrodysplasia: Atelosteogenesis is a type of lethal chondrodysplasia, meaning that it is a severe and life-threatening condition [8].
- Distal hypoplasia: The condition is characterized by distal hypoplasia of the humeri and femurs, which means that the lower parts of the long bones in the arms and legs are underdeveloped [8].
- Triangular or boomerang-shaped long bones: In some cases, the long bones may be triangular or boomerang-shaped, which is a diagnostic feature of the condition [9].
- Missing tubular bone ossification centers: The condition can also involve missing or underdeveloped ossification centers in the tubular bones [9].
It's worth noting that atelosteogenesis is a heterogeneous group of conditions, and the specific features can vary from one individual to another. However, in general, it is characterized by severe abnormalities in bone development.
References: [6] - Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine. [8] - Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, ... [9] - 1. Triangular, boomerang-shaped long bones, diagnostic of the syndrome · 2. Missing some tubular bone ossification centers · 3. Ossified fingers and toes from the ...
Additional Characteristics
- Short-limbed dwarfism
- Lethal chondrodysplasia
- Distal hypoplasia of the humeri and femurs
- Triangular or boomerang-shaped long bones
- Missing tubular bone ossification centers
Signs and Symptoms
Atelosteogenesis (AO) is a rare genetic disorder that affects bone development, leading to various physical abnormalities. Based on the search results, here are the signs and symptoms associated with AO:
- Short-limbed dwarfism: Infants born with this condition have very short arms and legs [1].
- Dislocated joints: Dislocated hip, knee, and elbow joints are common in affected individuals [2].
- Broad hands and feet: Affected individuals often have broad hands and feet with broad digits [3].
- Club feet: Inward- and upward-turning foot is a characteristic feature of AO [4].
- Cleft palate: An opening in the roof of the mouth (cleft palate) is also associated with this disorder [5, 6].
- Characteristic facial features: Affected individuals may have distinctive facial features, including a prominent forehead, hypertelorism, depressed nasal bridge, and micrognathia [8].
These physical abnormalities are due to the disorder's effect on cartilage and bone development, resulting in short arms and legs, a narrow chest, and a prominent, rounded abdomen [7].
Additional Symptoms
- Cleft palate
- Short-limbed dwarfism
- Dislocated joints
- Broad hands and feet
- Club feet
- Characteristic facial features
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for atelosteogenesis involve a combination of skeletal x-ray surveys and genetic testing.
- A full skeletal x-ray survey is mentioned in [4] as a method to establish the diagnosis of atelosteogenesis.
- Genetic analysis, specifically molecular genetic testing, is also used to confirm the diagnosis. This involves identifying biallelic pathogenic (or likely pathogenic) variants in the SLC26A2 gene, as stated in [1].
- Additionally, sequence variants and/or copy number variants within the FLNB gene can be detected with high sensitivity, as mentioned in [2].
It's worth noting that genetic analysis is a crucial component of diagnosing atelosteogenesis, particularly for types I and II. The expected turnaround time for these tests is typically 2 to 4 weeks from receipt of a sample in the laboratory.
In terms of specific diagnostic tests, there are two mentioned:
- Atelosteogenesis, I Type / III (CPT Codes: 81479)
- Atelosteogenesis, Type II (CPT Codes: 81479)
These tests involve genetic analysis to provide a molecular diagnosis of this disorder. They are recommended for individuals with a personal and/or family history of atelosteogenesis.
References:
Additional Diagnostic Tests
- III (CPT Codes: 81479)
- Atelosteogenesis, Type II (CPT Codes: 81479)
Treatment
Based on the provided context, it appears that there are limited treatment options available for atelosteogenesis.
- Currently, there is no specific treatment mentioned in the search results for atelosteogenesis type 1 or II (search result 4). It seems that infants with either disease can only be made as comfortable as possible.
- However, gene therapy and immunotherapy are mentioned as potential treatments for atelosteogenesis (search result 9).
It's also worth noting that vosoritide, a drug approved for treatment of achondroplasia, is not specifically mentioned as a treatment for atelosteogenesis. Achondroplasia and atelosteogenesis are both types of skeletal dysplasias, but they have distinct characteristics (search result 7).
In terms of general information about drug treatment, it's worth mentioning that the FDA uses science and data to ensure that approved drugs are of a high quality, safe, and effective (search result 15). However, this is more related to the regulatory aspect of drug approval rather than specific treatments for atelosteogenesis.
Here are some key points summarized:
- No specific treatment mentioned for atelosteogenesis type 1 or II
- Gene therapy and immunotherapy may be potential treatments for atelosteogenesis
- Vosoritide is approved for achondroplasia, but not specifically for atelosteogenesis
- FDA ensures high quality, safety, and effectiveness of approved drugs
References:
[4] No treatment mentioned for ACGIb or atelosteogenesis type II. [9] Gene therapy and immunotherapy are potential treatments for atelosteogenesis.
Recommended Medications
- Immunotherapy
- Gene therapy
- No specific treatment
💊 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 Atelosteogenesis
Atelosteogenesis (AO) is a rare and heterogeneous group of lethal skeletal dysplasias characterized by aplasia/hypoplasia of the humeri, femora, and spine [6]. When diagnosing AO, it's essential to consider differential diagnoses that can mimic or coexist with this condition. Here are some key points to consider:
- **Achond
Additional Differential Diagnoses
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050648
- oboInOwl#hasDbXref
- MIM:256050
- IAO_0000115
- An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
- RO_0004026
- http://purl.obolibrary.org/obo/UBERON_0001130
- relatedICD
- http://example.org/icd10/Q25.8
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_685
- owl#annotatedSource
- t332338
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050648
- rdf-schema#label
- atelosteogenesis
- rdf-schema#subClassOf
- t332456
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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