| Descriptor English: | Rubinstein-Taybi Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Rubinstein-Taybi
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| Descriptor Portuguese: | Síndrome de Rubinstein-Taybi | ||||||
| Descriptor French: | Syndrome de Rubinstein-Taybi | ||||||
| Entry term(s): |
Broad Thumb Hallux Syndrome Broad Thumb-Hallux Syndrome Broad Thumb-Hallux Syndromes Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein Syndrome Rubinstein Taybi Syndrome Syndrome, Broad Thumb-Hallux Syndrome, Rubinstein Syndrome, Rubinstein-Taybi Syndromes, Broad Thumb-Hallux |
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| Tree number(s): |
C05.116.099.370.797 C05.660.207.850 C10.597.606.360.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D012415 | ||||||
| Scope note: | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Abnormalities, Multiple (1968-1971) Mental Retardation (1966-1971) |
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| Public MeSH Note: | 91; was see under ABNORMALITIES, MULTIPLE 1972-90 |
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| History Note: | 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90 |
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| Related: |
Intellectual Disability
MeSH | ||||||
| DeCS ID: | 12788 | ||||||
| Unique ID: | D012415 | ||||||
| NLM Classification: | QS 675 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2018/06/30 |
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Rubinstein-Taybi Syndrome
- Preferred
| Concept UI |
M0019298 |
| Scope note | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
| Preferred term | Rubinstein-Taybi Syndrome |
| Entry term(s) |
Broad Thumb Hallux Syndrome Broad Thumb-Hallux Syndrome Broad Thumb-Hallux Syndromes Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein Syndrome Rubinstein Taybi Syndrome Syndrome, Broad Thumb-Hallux Syndrome, Rubinstein Syndrome, Rubinstein-Taybi Syndromes, Broad Thumb-Hallux |
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