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1,397 Possible Causes for Rubinstein-Taybi Syndrome

  • Pilomatrixoma

    , and Rubinstein-Taybi syndrome.[ncbi.nlm.nih.gov] syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome.[rarediseases.info.nih.gov] […] evidence to suggest that patients with a family history of multiple pilomatrixomas have a high probability of autosomal dominant disorders such as myotonic dystrophy, Gardner syndrome[ncbi.nlm.nih.gov]

  • Keratoglobus

    Abstract The case of a 20-year-old male with the Rubinstein-Taybi syndrome associated with unilateral acute corneal hydrops is presented.[ncbi.nlm.nih.gov] It has also been associated with disorders of the connective tissue such as Ehlers-Danlos syndrome, Marfan syndrome, and Rubinstein-Taybi syndrome, with the former being the[scirp.org]

  • 17q11 Microdeletion Syndrome

    […] were not available for this family, although growth retardation is a feature of RubinsteinTaybi syndrome.[nature.com] Various P304-IRF6-GRHL3 Van der Woude syndrome (VWS) IRF6, 1q32.2; GRHL3 1p36.11 P313-CREBBP RubinsteinTaybi syndrome (RSTS) CREBBP 16p13.3 P320-Human Telomere-13 Subtelomeric[gen-diagnostics.com] Hypotonia, poor feeding, failure to thrive In childhood and adolescence: Obesity, hypogonadism, small hands and feet, intellectual disability, obsessive-compulsive behaviors Rubinstein-Taybi[merckmanuals.com]

  • Rubinstein-Taybi Syndrome

    Nasodigitoacoustic syndrome List of cutaneous conditions GeneReview/UW/NIH entry on Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion on ORPHAnet[en.wikipedia.org] Adults with Rubinstein-Taybi syndrome.[ncbi.nlm.nih.gov] EP300 gene are responsible for a small percentage of cases of RubinsteinTaybi syndrome.[en.wikipedia.org]

  • Laron Syndrome with Immunodeficiency

    3 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Saethre-Chotzen syndrome Spastic paraplegia-optic atrophy-neuropathy[csbg.cnb.csic.es] Rubinstein-Taybi syndrome AD 175 362 CUL7 3-M syndrome, Yakut short stature syndrome AR 26 83 DHCR7 Smith-Lemli-Opitz syndrome AR 88 217 EP300 Rubinstein-Taybi syndrome AD[blueprintgenetics.com] 1; RSTS1 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 Rubinstein-Taybi syndrome 2; RSTS2 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome[guidetopharmacology.org]

  • Retinohepatoendocrinologic Syndrome

    RSTS Retropharyngeal Soft Tissue Space; Rubinstein-Taybi Syndrome RT Rubinstein-Taybi (syndrome) RTS Rett Syndrome RTS Rothmund-Thomson Syndrome RTS Rubinstein-Taybi Syndrome[medicabbreviations.com] syndrome Rubella virus antenatal infection Rubinstein Taybi like syndrome Rubinstein-Taybi syndrome Rutledge Friedman Harrod syndrome Ruvalcaba Churesigaew Myhre syndrome[mindmappedia.com] syndrome Rubella virus antenatal infection Rubella, congenital Rubella Rubinstein Taybi like syndrome Rubinstein-Taybi syndrome Rudd Klimek syndrome Rudiger syndrome Rumination[fact-index.com]

  • Cornelia De Lange Syndrome

    […] and Rubinstein-Taybi syndrome AU - Crawford, Hayley AU - Moss, J.[pureportal.coventry.ac.uk] Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt.[ncbi.nlm.nih.gov] Several conditions have considerable overlap with CdLS, including Coffin-Siris syndrome, Rubinstein Taybi syndrome, Robinow syndrome, and Roberts syndrome.[dnatesting.uchicago.edu]

  • Wiedemann-Steiner Syndrome

    Frequently, patients are given other incorrect medical explanations or a less specific and broader diagnosis, like autism and RubinsteinTaybi syndrome.[en.wikipedia.org]

  • Keloid

    Syndromes associated with keloids, namely Rubinstein-Taybi and Goeminne syndrome, were not found in these families.[doi.org] Rubinstein-Taybi syndrome 1 (RSTS1) patients develop keloids with high frequency.[ncbi.nlm.nih.gov] Adults with Rubinstein-Taybi syndrome. Am J Med Genet A 2011;155A:1680–1684. PMID: 21671385. 16. Siraganian PA, Rubinstein JH, Miller RW.[doi.org]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    The facial appearance of a child with Rubinstein-Taybi syndrome is striking.[docplayer.net] 3 Walker Warburg syndrome (Congenital hydrocephalus with congenital glaucoma) Hyper IgE syndrome Rubinstein-Taybi syndrome Bifid tongue and profound sensorineural hearing[vdocuments.mx] […] type 3 Walker Warburg syndrome (Congenital hydrocephalus with congenital glaucoma) Mandal et al (2002)73 Hyper IgE syndrome Roshan et al (2009) 98 Rubinstein-Taybi syndrome[datenpdf.com]

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