रुबिनस्टीन-टेबी सिंड्रोम
अंतिम अद्यतन 8 Sept 2020
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Rubinstein-Taybi syndrome is a condition characterised by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumours.
विवरण
Rubinstein-Taybi syndrome is a condition characterised by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumours.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Broad thumb-hallux syndrome
RSTS
RTS
Related patient information and medicines
Patient information leaflet
एहलर्स-डानलोस सिंड्रोम
यह Ehlers-Danlos syndromes (EDS) are a group का conditions that affect यह stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels और internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
प्रि-एक्लेम्प्सिया
Rarely, pre-eclampsia and eclampsia can both develop for the first time up to four weeks after you h... This is called post natal pre-eclampsia. HELLP syndrome HELLP syndrome is a complication which occurs in women who have severe pre-eclampsia or eclampsia. It commonly occurs between 27 and 37 weeks of pregnancy but can occur any time from 20.
Patient information leaflet
गर्दन की पसली
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. The brachial plexus, a group of nerves passing from your neck to your arm, passes through the thoracic.
Patient information leaflet
प्रीकोर्डियल कैच सिंड्रोम
Although precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. What is precordial catch syndrome. Precordial catch syndrome (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Patient information leaflet
भ्रूण एंटीकन्वल्सेंट सिंड्रोम
भ्रूण एंटीकन्वल्सेंट सिंड्रोम (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
नेफ्रोटिक सिंड्रोम
नेफ्रोटिक सिंड्रोम है a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
अधिक पठन और संदर्भ
- रुबिनस्टीन-टेबी सिंड्रोम; MedlinePlus, National Library of Medicine.
- Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 May;44(5):327-33. doi: 10.1136/jmg.2006.046698. Epub 2007 Jan 12.
- Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanova E, Volleth M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006 Sep;120(2):179-86. doi: 10.1007/s00439-006-0215-0. Epub 2006 Jun 17.
- Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. doi: 10.1007/s00439-005-1331-y. Epub 2005 Jul 14.
- Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77.
- Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415. No abstract available.
- Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. doi: 10.1007/s00018-005-5555-8.
- Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006 Sep;14(9):981-5. doi: 10.1038/sj.ejhg.5201594. Epub 2006 Jul 26.
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10.
- Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.
- Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [updated 2023 Nov 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1526/
- Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003 Jun 1;119A(2):101-10. doi: 10.1002/ajmg.a.10009.
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