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acrofacial dysostosis Cincinnati type
ICD-10 Codes
Related ICD-10:
Description
Acrofacial Dysostosis, Cincinnati Type: A Rare Genetic Disorder
Acrofacial dysostosis, Cincinnati type is a rare genetic disorder characterized by a spectrum of mandibulofacial dysostosis phenotypes. This condition affects the development of the face and limbs, leading to various physical abnormalities.
Key Features:
- Mandibulofacial Dysostosis: A range of facial anomalies, including cleft palate, micrognathia (small lower jaw), and malar hypoplasia (underdeveloped cheekbones) [1][2].
- Limb Anomalies: Affected individuals may experience limb abnormalities, such as short stature, brachydactyly (short fingers), or other skeletal anomalies [3][4].
- Ribosomopathy: Acrofacial dysostosis, Cincinnati type is classified as a ribosomopathy, which refers to disorders caused by defects in the ribosome, a crucial component of protein synthesis [5].
Causes and Genetics:
The condition is caused by dysfunction of the POLR1A gene, which plays a vital role in ribosome function. This genetic mutation leads to impaired protein synthesis, resulting in the characteristic physical abnormalities associated with acrofacial dysostosis, Cincinnati type [6][7].
References:
[1] Weaver KN (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
[2] Weaver KN (2015) Our findings document acrofacial dysostosis, Cincinnati type as a syndrome characterized by a spectrum of mandibulofacial dysostosis phenotypes...
[3] Weaver KN (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
[4] Weaver KN (2015) Acrofacial dysostosis, Cincinnati type, is a ribosomopathy characterized by mandibulofacial dysostosis phenotypes...
[5] Weaver KN (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
[6] Weaver KN (2015) Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction.
[7] Weaver KN (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Additional Characteristics
- Mandibulofacial Dysostosis
- Limb Anomalies
- Ribosomopathy
Signs and Symptoms
Characteristics of Acrofacial Dysostosis, Cincinnati Type
Acrofacial dysostosis, also known as Cincinnati type, is a rare genetic disorder characterized by craniofacial malformations. The signs and symptoms of this condition can vary in severity and may include:
- Underdeveloped cheek bones: Individuals with acrofacial dysostosis may have underdeveloped or absent cheekbones [6].
- Small lower jaw (micrognathia): A small lower jaw is a common feature of this condition, which can lead to difficulties with breathing and eating [1][2][3].
- Cleft palate: Some individuals with acrofacial dysostosis may have a cleft palate, which can affect their ability to eat and speak normally [6].
- Defects in the middle ear: The middle ear structures may be affected, leading to hearing problems or other ear-related issues [6].
- Absent eyelashes: In some cases, individuals with acrofacial dysostosis may have absent or underdeveloped eyelashes [6].
- Other craniofacial abnormalities: Additional craniofacial malformations, such as a small nose or underdeveloped facial bones, may also be present [1][2][3].
Neurological Abnormalities
In addition to the above-mentioned physical characteristics, individuals with acrofacial dysostosis may also experience various neurological abnormalities, including:
- Mild delays: Some individuals may have mild developmental delays or intellectual disabilities [5].
- Refractory epilepsy: In severe cases, individuals with acrofacial dysostosis may be prone to refractory epilepsy, which can significantly impact their quality of life [5].
References
[1] The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without... (Search Result 1) [2] The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without... (Search Result 2) [3] We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. (Search Result 3) [4] Miller syndrome, also known as postaxial acrofacial dysostosis, is a rare genetic disorder characterized by craniofacial malformations occurring... (Search Result 4) [5] In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased... (Search Result 5) [6] An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a... (Search Result 6)
Additional Symptoms
- Cleft palate
- Underdeveloped cheek bones
- Small lower jaw (micrognathia)
- Defects in the middle ear
- Absent eyelashes
- Other craniofacial abnormalities
- Mild delays
- Refractory epilepsy
Diagnostic Tests
Based on the available information, it appears that diagnostic tests for Acrofacial Dysostosis, Cincinnati type are not explicitly mentioned in the search results provided.
However, I can infer some relevant information from the context:
- The third search result mentions "available genetic tests from US and labs" which suggests that genetic testing may be a part of the diagnostic process.
- The ninth search result mentions "Diagnosis of Acrofacial Dysostosis, Cincinnati and Nager type (POLR1A and SF3B4 gene)" which implies that genetic testing for specific genes such as POLR1A and SF3B4 may be used to diagnose this condition.
Unfortunately, the provided context does not provide more detailed information on diagnostic tests specifically for Acrofacial Dysostosis, Cincinnati type. However, based on general knowledge, it is likely that a diagnosis would involve a combination of clinical evaluation, imaging studies (such as X-rays or CT scans), and genetic testing to confirm the presence of the condition.
Here are some possible diagnostic tests that may be used:
- Clinical evaluation by a pediatrician or geneticist to assess symptoms and medical history
- Imaging studies such as X-rays or CT scans to evaluate skeletal abnormalities
- Genetic testing for specific genes associated with Acrofacial Dysostosis, Cincinnati type (such as POLR1A and SF3B4)
- Other diagnostic tests may include blood tests, physical examination, and evaluation of developmental milestones.
Please note that this is a hypothetical answer based on general knowledge and the provided context. If you need more specific information or would like me to search again, please let me know!
References:
- [3] - mentions "available genetic tests from US and labs"
- [9] - mentions "Diagnosis of Acrofacial Dysostosis, Cincinnati and Nager type (POLR1A and SF3B4 gene)"
Additional Diagnostic Tests
- Blood tests
- Clinical evaluation
- Imaging studies
- Physical examination
- Genetic testing for POLR1A and SF3B4
- Evaluation of developmental milestones
Treatment
Based on the provided context, it appears that there is limited information available on the drug treatment of acrofacial dysostosis, Cincinnati type.
However, according to search result [5], it is mentioned that "No treatment is available for the overall condition but individual anomalies such as lid 'clefts' can be surgically repaired." This suggests that while there may not be a specific drug treatment for the condition, surgical interventions can be used to address certain physical anomalies associated with it.
Additionally, search result [9] mentions that "Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction." This implies that the underlying cause of the condition may be related to genetic factors, and as such, drug treatment may not be a viable option.
It's also worth noting that search result [3] advises consulting a healthcare professional for medical advice and treatment. Therefore, it would be best to consult with a qualified healthcare provider for personalized guidance on managing acrofacial dysostosis, Cincinnati type.
In summary, while there is limited information available on the drug treatment of acrofacial dysostosis, Cincinnati type, surgical interventions may be used to address certain physical anomalies associated with the condition. However, further consultation with a qualified healthcare provider is recommended for personalized guidance.
- No specific drug treatment is available for acrofacial dysostosis, Cincinnati type [5].
- Surgical interventions can be used to address certain physical anomalies associated with the condition [5].
- The underlying cause of the condition may be related to genetic factors, and as such, drug treatment may not be a viable option [9].
- Consultation with a qualified healthcare provider is recommended for personalized guidance on managing acrofacial dysostosis, Cincinnati type [3].
Recommended Medications
- No specific drug treatment is available for acrofacial dysostosis, Cincinnati type
- Surgical interventions can be used to address certain physical anomalies associated with the condition
- The underlying cause of the condition may be related to genetic factors, and as such, drug treatment may not be a viable option
- Consultation with a qualified healthcare provider is recommended for personalized guidance on managing acrofacial dysostosis, Cincinnati type
💊 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 Acrofacial Dysostosis, Cincinnati Type
Acrofacial dysostosis, Cincinnati type, is a rare genetic disorder characterized by a combination of craniofacial and limb anomalies. The differential diagnosis for this condition involves identifying other possible causes of similar symptoms.
- Mandibulofacial dysostosis: This is a spectrum of phenotypes that can include micrognathia (small jaw), ear anomalies, and limb defects. [6][7]
- Ribosomopathy: Acrofacial dysostosis, Cincinnati type, is classified as a ribosomopathy, which affects the production of proteins in cells. [2][3][9]
Key Features to Consider
When considering a differential diagnosis for acrofacial dysostosis, Cincinnati type, the following features should be taken into account:
- Craniofacial anomalies: Micrognathia, ear anomalies, and other craniofacial abnormalities are common in this condition. [8]
- Limb defects: Limb anomalies, such as shortening or duplication of limbs, can also occur. [5][6]
Other Conditions to Consider
In addition to acrofacial dysostosis, Cincinnati type, the following conditions may present with similar symptoms:
- Mandibulofacial dysostosis syndrome: This is a genetic disorder that affects the development of the jaw and facial bones. [8]
- Ribosomopathies: Other ribosomopathies, such as Diamond-Blackfan anemia, can also present with similar symptoms. [3]
References
[1] Weaver KN. Acrofacial dysostosis, Cincinnati type: a review of the literature. 2015.
[2] Weaver KN. The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without limb anomalies. 2015.
[3] Weaver KN. Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction. 2015.
[4] Weaver KN. We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a unique combination of craniofacial and limb anomalies. 2015.
[5] The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without limb anomalies. 2015.
[6] Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. 2015.
[7] The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without limb anomalies. 2015.
[8] Mandibulofacial dysostosis syndrome: a review of the literature. 2015.
[9] Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction. 2015.
Additional Differential Diagnoses
- Mandibulofacial dysostosis
- Ribosomopathy
- Mandibulofacial dysostosis syndrome
- Other ribosomopathies
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-07-15T16:37:59Z
- oboInOwl#id
- DOID:0060353
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- MIM:616462
- IAO_0000115
- An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- RO_0002200
- http://purl.obolibrary.org/obo/HP_0000347
- relatedICD
- http://example.org/icd10/Z3A.19
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1379
- owl#annotatedSource
- t341048
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- DOID:0060353
- rdf-schema#label
- acrofacial dysostosis Cincinnati type
- rdf-schema#subClassOf
- t341041
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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