Roberts syndrome: Difference between revisions
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[[File:Virchow_fetus_1898.JPG| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Roberts syndrome | |||
| image = [[File:Virchow_fetus_1898.JPG|250px]] | |||
| caption = A fetus with Roberts syndrome | |||
| synonyms = Pseudothalidomide syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Limb malformations]], [[craniofacial abnormalities]], [[growth retardation]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[ESCO2]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[prenatal ultrasound]] | |||
| differential = [[Thalidomide embryopathy]], [[TAR syndrome]] | |||
| treatment = [[Supportive care]], [[surgical intervention]] | |||
| medication = | |||
| prognosis = Variable, often poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Roberts syndrome''' is a rare genetic disorder characterized by limb and facial abnormalities. It is also known as '''pseudothalidomide syndrome''' due to its phenotypic similarities to the effects of thalidomide exposure. The condition is named after the American geneticist [[John B. Roberts]], who first described it in 1919. | |||
== Presentation == | == Presentation == | ||
Individuals with Roberts syndrome typically present with a range of physical abnormalities. These may include: | Individuals with Roberts syndrome typically present with a range of physical abnormalities. These may include: | ||
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* [[Growth retardation]] | * [[Growth retardation]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
== Genetics == | == Genetics == | ||
Roberts syndrome is inherited in an [[autosomal recessive]] manner. The condition is caused by mutations in the [[ESCO2]] gene, which is located on chromosome 8. The ESCO2 gene is responsible for encoding a protein that plays a crucial role in the [[cohesin complex]], which is essential for proper chromosome segregation during cell division. | Roberts syndrome is inherited in an [[autosomal recessive]] manner. The condition is caused by mutations in the [[ESCO2]] gene, which is located on chromosome 8. The ESCO2 gene is responsible for encoding a protein that plays a crucial role in the [[cohesin complex]], which is essential for proper chromosome segregation during cell division. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Roberts syndrome is based on clinical evaluation and genetic testing. Prenatal diagnosis can be performed through [[amniocentesis]] or [[chorionic villus sampling]] if there is a known family history of the disorder. | Diagnosis of Roberts syndrome is based on clinical evaluation and genetic testing. Prenatal diagnosis can be performed through [[amniocentesis]] or [[chorionic villus sampling]] if there is a known family history of the disorder. | ||
== Management == | == Management == | ||
There is no cure for Roberts syndrome, and treatment is primarily supportive. Management may include: | There is no cure for Roberts syndrome, and treatment is primarily supportive. Management may include: | ||
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* Physical therapy to improve mobility and function | * Physical therapy to improve mobility and function | ||
* Special education programs to address intellectual disabilities | * Special education programs to address intellectual disabilities | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Roberts syndrome varies depending on the severity of the condition. Some individuals may have a relatively normal lifespan with appropriate medical care, while others may experience significant health challenges. | The prognosis for individuals with Roberts syndrome varies depending on the severity of the condition. Some individuals may have a relatively normal lifespan with appropriate medical care, while others may experience significant health challenges. | ||
== See also == | |||
== | |||
* [[Phocomelia]] | * [[Phocomelia]] | ||
* [[Craniofacial abnormalities]] | * [[Craniofacial abnormalities]] | ||
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* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
== See Also == | == See Also == | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[Congenital limb deformities]] | * [[Congenital limb deformities]] | ||
* [[Cohesin complex]] | * [[Cohesin complex]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 18:18, 8 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
| Roberts syndrome | |
|---|---|
| |
| Synonyms | Pseudothalidomide syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Limb malformations, craniofacial abnormalities, growth retardation |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the ESCO2 gene |
| Risks | |
| Diagnosis | Genetic testing, prenatal ultrasound |
| Differential diagnosis | Thalidomide embryopathy, TAR syndrome |
| Prevention | N/A |
| Treatment | Supportive care, surgical intervention |
| Medication | |
| Prognosis | Variable, often poor |
| Frequency | Rare |
| Deaths | |
Roberts syndrome is a rare genetic disorder characterized by limb and facial abnormalities. It is also known as pseudothalidomide syndrome due to its phenotypic similarities to the effects of thalidomide exposure. The condition is named after the American geneticist John B. Roberts, who first described it in 1919.
Presentation[edit]
Individuals with Roberts syndrome typically present with a range of physical abnormalities. These may include:
- Phocomelia or tetraphocomelia (severe limb malformations)
- Craniofacial abnormalities such as cleft lip and cleft palate
- Microcephaly (abnormally small head)
- Growth retardation
- Intellectual disability
Genetics[edit]
Roberts syndrome is inherited in an autosomal recessive manner. The condition is caused by mutations in the ESCO2 gene, which is located on chromosome 8. The ESCO2 gene is responsible for encoding a protein that plays a crucial role in the cohesin complex, which is essential for proper chromosome segregation during cell division.
Diagnosis[edit]
Diagnosis of Roberts syndrome is based on clinical evaluation and genetic testing. Prenatal diagnosis can be performed through amniocentesis or chorionic villus sampling if there is a known family history of the disorder.
Management[edit]
There is no cure for Roberts syndrome, and treatment is primarily supportive. Management may include:
- Surgical correction of limb and craniofacial abnormalities
- Physical therapy to improve mobility and function
- Special education programs to address intellectual disabilities
Prognosis[edit]
The prognosis for individuals with Roberts syndrome varies depending on the severity of the condition. Some individuals may have a relatively normal lifespan with appropriate medical care, while others may experience significant health challenges.
See also[edit]
- Phocomelia
- Craniofacial abnormalities
- Cleft lip and palate
- Microcephaly
- Autosomal recessive inheritance
- Genetic disorders
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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