| Phenotype and clinics | The main clinical features of RTS are facial dysmorphism, broad thumbs, broad big toes, and growth and mental retardation. The facial appearance is different in the newborn, but the most striking facial features in childhood include microcephaly, downslanting palpebral fissures, prominent and beaked nose with low nasal septum, highly arched palate, and mild micrognathia. Broad thumbs and broad halluces are present in almost all cases. Other extremities abnormalities include angulation deformities of the thumbs and halluces, broad distal phalanges of other fingers, clinodactyly of the 5th finger, persistent fetal fingertip pads and overlapping toes. Growth retardation is generally marked during infancy with feeding problems, and with a tendency to overweight in later childhood and adulthood. Constipation, recurrent upper respiratory infections and conjunctivitis are frequent problems in infancy. Retarded motor and mental development become apparent in the first year of life. The average IQ of the patients is between 35 and 50, but some patients may have a better outcome. The performal IQ is higher than the verbal IQ. Other findings may include eye abnormalities (tear duct obstruction, ptosis, strabismus, glaucoma, coloboma, cataract, refractive error), congenital heart defects (PDA, VSD, ASD), urinary tract malformations, specific dental abnormalities, epilepsy, and skin features (naevus flammeus, hirsutism, keloid scarring). |
| Neoplastic risk | An increased risk for different tumors has been noticed. Tumors are reported in about 5 % of RTS patients. The reported tumors include brain tumors as meningioma, acute lymphocytic leukemia, pheochromocytoma, rhabdomyosarcoma (nasopharyngeal), and intraspinal neurilemmoma. An increased frequency of pilomatrixoma is also known in the syndrome. |
| Treatment | There is no specific treatment in RTS. |
| FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. |
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| Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. |
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| PMID 1519642 |
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| Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. |
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| Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. |
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| Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). |
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| PMID 1456298 |
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