TAR syndrome: Difference between revisions
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[[File:Chromosome_1_to_1q21.1.jpg|Chromosome 1 to 1q21.1| | {{SI}} | ||
{{Infobox medical condition | |||
| name = TAR syndrome | |||
| image = [[File:Chromosome_1_to_1q21.1.jpg|alt=Chromosome 1 to 1q21.1]] | |||
| caption = Chromosomal location associated with TAR syndrome | |||
| synonyms = Thrombocytopenia-absent radius syndrome | |||
| pronounce = | |||
| specialty = [[Hematology]], [[Orthopedics]] | |||
| symptoms = [[Thrombocytopenia]], [[absent radius]], [[skeletal abnormalities]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Genetic mutation, deletion at [[1q21.1]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Fanconi anemia]], [[VACTERL association]] | |||
| treatment = [[Platelet transfusion]], [[orthopedic surgery]] | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''TAR syndrome''' (Thrombocytopenia with Absent Radius) is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a significantly reduced platelet count, leading to bleeding tendencies. The condition is present from birth and can vary in severity. | |||
==Presentation== | ==Presentation== | ||
Individuals with TAR syndrome typically present with bilateral absence of the radius bone, while the thumbs are usually present, distinguishing it from other radial ray defects. The thrombocytopenia, or low platelet count, can lead to easy bruising, nosebleeds, and bleeding gums. In severe cases, it can cause internal bleeding and hemorrhages. | Individuals with TAR syndrome typically present with bilateral absence of the radius bone, while the thumbs are usually present, distinguishing it from other radial ray defects. The thrombocytopenia, or low platelet count, can lead to easy bruising, nosebleeds, and bleeding gums. In severe cases, it can cause internal bleeding and hemorrhages. | ||
==Genetics== | ==Genetics== | ||
TAR syndrome is inherited in an [[autosomal recessive]] pattern. It is associated with mutations in the [[RBM8A]] gene. Both parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms of the condition. | TAR syndrome is inherited in an [[autosomal recessive]] pattern. It is associated with mutations in the [[RBM8A]] gene. Both parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms of the condition. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of TAR syndrome is based on clinical findings and can be confirmed through genetic testing. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history of the disorder. | Diagnosis of TAR syndrome is based on clinical findings and can be confirmed through genetic testing. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history of the disorder. | ||
==Management== | ==Management== | ||
Management of TAR syndrome involves addressing the hematological and orthopedic issues. Platelet transfusions may be necessary to manage severe thrombocytopenia, especially during surgeries or in response to significant bleeding episodes. Orthopedic interventions may include surgical correction of limb deformities and physical therapy to improve function. | Management of TAR syndrome involves addressing the hematological and orthopedic issues. Platelet transfusions may be necessary to manage severe thrombocytopenia, especially during surgeries or in response to significant bleeding episodes. Orthopedic interventions may include surgical correction of limb deformities and physical therapy to improve function. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with TAR syndrome varies. With appropriate medical care, many individuals can lead relatively normal lives. However, the severity of the condition and the presence of associated anomalies can impact overall health and quality of life. | The prognosis for individuals with TAR syndrome varies. With appropriate medical care, many individuals can lead relatively normal lives. However, the severity of the condition and the presence of associated anomalies can impact overall health and quality of life. | ||
==Related Conditions== | ==Related Conditions== | ||
* [[Fanconi anemia]] | * [[Fanconi anemia]] | ||
| Line 21: | Line 36: | ||
* [[Radial ray defect]] | * [[Radial ray defect]] | ||
* [[Congenital limb deformities]] | * [[Congenital limb deformities]] | ||
==See Also== | ==See Also== | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Hematology]] | * [[Hematology]] | ||
* [[Orthopedic surgery]] | * [[Orthopedic surgery]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External Links== | ==External Links== | ||
{{Commons category|TAR syndrome}} | {{Commons category|TAR syndrome}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Orthopedic surgery]] | [[Category:Orthopedic surgery]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 05:58, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| TAR syndrome | |
|---|---|
| |
| Synonyms | Thrombocytopenia-absent radius syndrome |
| Pronounce | |
| Specialty | Hematology, Orthopedics |
| Symptoms | Thrombocytopenia, absent radius, skeletal abnormalities |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, deletion at 1q21.1 |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Fanconi anemia, VACTERL association |
| Prevention | N/A |
| Treatment | Platelet transfusion, orthopedic surgery |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | |
TAR syndrome (Thrombocytopenia with Absent Radius) is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a significantly reduced platelet count, leading to bleeding tendencies. The condition is present from birth and can vary in severity.
Presentation[edit]
Individuals with TAR syndrome typically present with bilateral absence of the radius bone, while the thumbs are usually present, distinguishing it from other radial ray defects. The thrombocytopenia, or low platelet count, can lead to easy bruising, nosebleeds, and bleeding gums. In severe cases, it can cause internal bleeding and hemorrhages.
Genetics[edit]
TAR syndrome is inherited in an autosomal recessive pattern. It is associated with mutations in the RBM8A gene. Both parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms of the condition.
Diagnosis[edit]
Diagnosis of TAR syndrome is based on clinical findings and can be confirmed through genetic testing. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history of the disorder.
Management[edit]
Management of TAR syndrome involves addressing the hematological and orthopedic issues. Platelet transfusions may be necessary to manage severe thrombocytopenia, especially during surgeries or in response to significant bleeding episodes. Orthopedic interventions may include surgical correction of limb deformities and physical therapy to improve function.
Prognosis[edit]
The prognosis for individuals with TAR syndrome varies. With appropriate medical care, many individuals can lead relatively normal lives. However, the severity of the condition and the presence of associated anomalies can impact overall health and quality of life.
Related Conditions[edit]
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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