Rubinstein–Taybi syndrome: Difference between revisions
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'''Rubinstein–Taybi syndrome''' (RTS), also known as '''broad thumb-hallux syndrome''' or '''Rubinstein syndrome''', is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. | {{SI}} | ||
{{Infobox medical condition | |||
| name = Rubinstein–Taybi syndrome | |||
| image = [[File:Taybi.jpg]] | |||
| caption = A child with Rubinstein–Taybi syndrome | |||
| synonyms = Broad thumb-hallux syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], distinctive facial features, broad thumbs and toes | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[Genetic testing]] | |||
| differential = [[Cornelia de Lange syndrome]], [[Floating-Harbor syndrome]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Occupational therapy]], [[Speech therapy]] | |||
| medication = | |||
| prognosis = Varies | |||
| frequency = 1 in 100,000 to 125,000 | |||
| deaths = | |||
}} | |||
[[File:Autosomal dominant - en.svg|Rubinstein–Taybi syndrome|thumb|left]] | |||
'''Rubinstein–Taybi syndrome''' (RTS), also known as '''broad thumb-hallux syndrome''' or '''Rubinstein syndrome''', is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
People with Rubinstein–Taybi syndrome often have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes associated with an increased risk of developing certain other types of cancers, including brain tumors and cancers of the blood, bone, or nerves. | People with Rubinstein–Taybi syndrome often have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes associated with an increased risk of developing certain other types of cancers, including brain tumors and cancers of the blood, bone, or nerves. | ||
== Causes == | == Causes == | ||
Rubinstein–Taybi syndrome is caused by mutations in the CREBBP or EP300 gene. These genes provide instructions for making proteins that help control the activity of many other genes. The proteins produced from the CREBBP and EP300 genes, particularly the CREBBP protein, play a critical role in regulating cell growth and division and are important for normal development before birth. | Rubinstein–Taybi syndrome is caused by mutations in the CREBBP or EP300 gene. These genes provide instructions for making proteins that help control the activity of many other genes. The proteins produced from the CREBBP and EP300 genes, particularly the CREBBP protein, play a critical role in regulating cell growth and division and are important for normal development before birth. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Rubinstein–Taybi syndrome can be challenging, as the symptoms can vary significantly among individuals. Genetic testing can confirm a diagnosis. | Diagnosis of Rubinstein–Taybi syndrome can be challenging, as the symptoms can vary significantly among individuals. Genetic testing can confirm a diagnosis. | ||
== Treatment == | == Treatment == | ||
Treatment for Rubinstein–Taybi syndrome is symptomatic and supportive. Physical, occupational, and speech therapy may be beneficial. Special education, vocational training, and socialization opportunities can also be helpful. | Treatment for Rubinstein–Taybi syndrome is symptomatic and supportive. Physical, occupational, and speech therapy may be beneficial. Special education, vocational training, and socialization opportunities can also be helpful. | ||
== See Also == | == See Also == | ||
* [[Genetic Disorders]] | * [[Genetic Disorders]] | ||
| Line 23: | Line 37: | ||
* [[Leukemia]] | * [[Leukemia]] | ||
* [[Lymphoma]] | * [[Lymphoma]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External Links == | == External Links == | ||
* [https://www.wikimd.com/wiki/Rubinstein–Taybi_syndrome WikiMD Article] | * [https://www.wikimd.com/wiki/Rubinstein–Taybi_syndrome WikiMD Article] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Rare Diseases]] | [[Category:Rare Diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 14:43, 9 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
| Rubinstein–Taybi syndrome | |
|---|---|
| |
| Synonyms | Broad thumb-hallux syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, distinctive facial features, broad thumbs and toes |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, Genetic testing |
| Differential diagnosis | Cornelia de Lange syndrome, Floating-Harbor syndrome |
| Prevention | |
| Treatment | Supportive care, Occupational therapy, Speech therapy |
| Medication | |
| Prognosis | Varies |
| Frequency | 1 in 100,000 to 125,000 |
| Deaths | |
Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals.
Signs and Symptoms[edit]
People with Rubinstein–Taybi syndrome often have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes associated with an increased risk of developing certain other types of cancers, including brain tumors and cancers of the blood, bone, or nerves.
Causes[edit]
Rubinstein–Taybi syndrome is caused by mutations in the CREBBP or EP300 gene. These genes provide instructions for making proteins that help control the activity of many other genes. The proteins produced from the CREBBP and EP300 genes, particularly the CREBBP protein, play a critical role in regulating cell growth and division and are important for normal development before birth.
Diagnosis[edit]
Diagnosis of Rubinstein–Taybi syndrome can be challenging, as the symptoms can vary significantly among individuals. Genetic testing can confirm a diagnosis.
Treatment[edit]
Treatment for Rubinstein–Taybi syndrome is symptomatic and supportive. Physical, occupational, and speech therapy may be beneficial. Special education, vocational training, and socialization opportunities can also be helpful.
See Also[edit]
References[edit]
<references />
