Rubinstein-Taybi syndrome (RTS)

2001-06-01   Didier Lacombe 

Genetique Medicale-Hopital Pellegrin-Enfants - C.H.U de Bordeaux Place Amélie Raba-Léon 33076 BORDEAUX Cedex, France



Rubinstein-Taybi syndrome (RTS)


Broad thumb   hallux syndrome


The Rubinstein-Taybi syndrome is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, typical face, and various malformations.


The prevalence at birth was estimated to be 1 in 125,000 living newborn infants. RTS is caused by an autosomal dominant mutation.






783 Rubinstein-Taybi syndrome




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.


    There is no specific treatment in RTS.



    Chromosome analysis is usually normal in RTS. Some cytogenetic rearrangements involving chromosome 16p13.3 have been described leading to the identification of the causing gene. An interstitial submicroscopic deletion of this region is found in approximately 12 % of the patients, using two-color FISH and the cosmid RT1 (D16S237).

    Genes involved and Proteins

    Atlas Image

    To be noted




    Pubmed IDLast YearTitleAuthors
    105730061999FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.Bartsch O et al
    106021142000Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.Blough RI et al
    96132011998Conjunction dysfunction: CBP/p300 in human disease.Giles RH et al
    84306921993Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.Hennekam RC et al
    20639111991Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).Imaizumi K et al
    15196421992Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.Lacombe D et al
    78640451994Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.Masuno M et al
    106990512000Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.Petrij F et al
    139830331963Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.RUBINSTEIN JH et al
    21187741990Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.Rubinstein JH et al
    96770641998Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.Taine L et al
    14562981992Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).Tommerup N et al

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