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temtamy preaxial brachydactyly syndrome
ICD-10 Codes
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Description
Temtamy Preaxial Brachydactyly Syndrome (TPBS) Description
Temtamy preaxial brachydactyly syndrome, also known as TPBS, is a rare genetic disorder characterized by several distinct physical and developmental features. The syndrome is associated with:
- Bilateral, symmetrical preaxial brachydactyly: This refers to the shortening of the fingers on both hands, particularly on the radial (thumb) side.
- Hyperphalangism of digits: This means that there are extra phalanges (bones) in the fingers, leading to an abnormal length or shape of the fingers.
- Facial dysmorphism: Individuals with TPBS may have distinctive facial features, such as a flat midface, a short nose, and/or other abnormalities.
- Dental anomalies: People with this syndrome often experience dental problems, including tooth crowding, malocclusion (bad bite), or other irregularities.
- Sensorineural hearing loss: Some individuals with TPBS may have impaired hearing due to damage to the inner ear.
Causes and Genetics
TPBS is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. The CHSY1 gene has been identified as the primary cause of TPBS [6].
References:
- [1] - Characterized by bilateral, symmetrical preaxial brachydactyly associated with ...
- [4] - An autosomal recessive disorder characterized by bilateral, symmetric preaxial brachydactyly and ...
- [6] - Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene.
- [8] - A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss ...
- [9] - An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, ...
Additional Characteristics
- facial dysmorphism
- bilateral, symmetrical preaxial brachydactyly
- hyperphalangism of digits
- dental anomalies
- sensorineural hearing loss
Signs and Symptoms
Common Signs and Symptoms of Temtamy Preaxial Brachydactyly Syndrome
Temtamy preaxial brachydactyly syndrome (TPBS) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the common features associated with this condition:
- Brachydactyly: Short fingers, particularly in the hands, are a hallmark feature of TPBS [1][2]. In severe cases, the fingers may be about half of their normal length [7].
- Hyperphalangism of digits: The presence of extra phalanges or abnormally shaped phalanges in the fingers and toes is another characteristic sign of TPBS [5][6].
- Facial dysmorphism: Individuals with TPBS often exhibit facial abnormalities, including a round face shape, craniosynostosis (premature closure of the skull bones), mild hypertelorism (increased distance between the eyes), and micrognathia (small jaw) [3].
- Dental anomalies: Dental problems are common in individuals with TPBS, including abnormal tooth shape or number [4][5].
- Sensorineural hearing loss: Some people with TPBS may experience hearing difficulties due to sensorineural hearing loss [6].
- Hand abnormalities: In addition to brachydactyly and hyperphalangism, other hand abnormalities such as curved pinky fingers (fifth finger clinodactyly) and webbing of the skin between the fingers may also occur [9].
It's essential to note that not everyone with TPBS will exhibit all these symptoms, and their severity can vary widely among affected individuals.
Additional Symptoms
- Facial dysmorphism
- Sensorineural hearing loss
- Dental anomalies
- Brachydactyly
- Hyperphalangism of digits
- Hand abnormalities
Diagnostic Tests
Diagnostic Tests for Temtamy Preaxial Brachydactyly Syndrome
Temtamy preaxial brachydactyly syndrome is a rare genetic disorder, and its diagnosis can be challenging. However, several diagnostic tests are available to help identify the condition.
- Clinical tests: According to search result [3], 22 clinical tests are available in the database for this condition. These tests may include physical examinations, medical histories, and other clinical evaluations.
- Molecular Genetics Tests: Search result [7] recommends diagnostic testing of the CHSY1 gene to identify a potential genetic basis for the condition. This type of testing can inform prognosis and treatment options.
- Genetic Tests: Search result [6] mentions genetic tests for Temtamy Preaxial Brachydactyly Syndrome, although specific details are not provided.
Additional Diagnostic Methods
Search result [3]
Additional Diagnostic Tests
- Genetic Tests
- Molecular Genetics Tests
- Clinical tests
Treatment
Based on the provided context, it appears that there is limited information available on the drug treatment of Temtamy Preaxial Brachydactyly Syndrome (TPBS). However, I can provide some insights based on the search results.
- According to search result [8], TPBS is an autosomal recessive disorder characterized by bilateral, symmetric preaxial brachydactyly. However, there is no mention of drug treatment in this result.
- Search result [9] mentions that Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. This suggests that the underlying cause of TPBS is related to a genetic mutation, but it does not provide information on drug treatment.
- Search result [5] discusses Temtamy Preaxial Brachydactyly Syndrome and mentions treatments in the context of zebrafish larvae, but this is not relevant to human drug treatment.
Unfortunately, based on the provided search results, there is no specific information available on the drug treatment of TPBS. However, it's worth noting that the disease overview in search result [4] emphasizes the importance of consulting a healthcare professional for medical advice and treatment.
If you're looking for more information on this topic, I would recommend searching for peer-reviewed articles or clinical trials related to TPBS. Additionally, consulting with a geneticist or a specialist in rare diseases may provide more insight into potential treatment options.
Here are some possible treatment approaches that might be considered:
- Genetic counseling and testing to confirm the diagnosis
- Management of symptoms through physical therapy and occupational therapy
- Consideration of surgical interventions for severe cases
Please note that these suggestions are based on general knowledge and not specific to TPBS. It's essential to consult with a qualified healthcare professional for personalized advice.
References: [4], [8]
Recommended Medications
- No specific information available
- Genetic counseling and testing
- Management of symptoms through physical therapy and occupational therapy
- Surgical interventions for severe cases
💊 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 Temtamy Preaxial Brachydactyly Syndrome
Temtamy preaxial brachydactyly syndrome (TPBS) is a rare genetic disorder characterized by bilateral, symmetrical preaxial brachydactyly and other developmental defects. To determine the differential diagnosis of TPBS, it's essential to consider similar conditions that present with similar symptoms.
Similar Conditions:
- Bilateral Preaxial Brachydactyly: This condition is characterized by shortening of the fingers on both hands, typically affecting the thumb and index finger.
- Brachydactyly Type A: This is a genetic disorder that affects the development of the hands, leading to shortening of the fingers.
- Deafness and Brachydactyly: Some individuals with TPBS may also experience hearing loss, which can be associated with other conditions such as Pendred syndrome or branchio-oto-renal (BOR) syndrome.
Key Features:
- Bilateral Symmetry: The presence of symmetrical preaxial brachydactyly on both hands is a distinctive feature of TPBS.
- Developmental Defects: Individuals with TPBS may experience other developmental defects, such as facial dysmorphism, dental anomalies, and sensorineural hearing loss.
Differential Diagnosis:
To accurately diagnose TPBS, it's crucial to rule out other conditions that present with similar symptoms. The differential diagnosis for TPBS includes:
- Bilateral Preaxial Brachydactyly: This condition can be distinguished from TPBS by the absence of other developmental defects.
- Brachydactyly Type A: While this condition shares some similarities with TPBS, it is typically characterized by shortening of all fingers on one hand.
- Deafness and Brachydactyly: This combination of symptoms can be associated with other conditions such as Pendred syndrome or branchio-oto-renal (BOR) syndrome.
Genetic Testing:
Genetic testing can help confirm the diagnosis of TPBS by identifying mutations in the CHSY1 gene. This is particularly important for individuals who present with bilateral preaxial brachydactyly and other developmental defects.
References:
- [1] Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with ...
- [3] We have identified mutations in the CHSY1 gene in individuals with TPBS.
- [12] Differential has multiple meanings in mathematics, science, technology, social sciences, medicine and other fields.
Additional Differential Diagnoses
- Bilateral Preaxial Brachydactyly
- Deafness and Brachydactyly
- brachydactyly type C
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_849
- owl#annotatedSource
- t332558
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2013-12-05T12:12:10Z
- oboInOwl#id
- DOID:0050814
- oboInOwl#hasDbXref
- UMLS_CUI:C1854466
- oboInOwl#hasExactSynonym
- PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
- IAO_0000115
- A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
- http://example.org/icd10/M89.134
- core#notation
- DOID:0050814
- rdf-schema#label
- temtamy preaxial brachydactyly syndrome
- rdf-schema#subClassOf
- t331952
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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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.