Rubinstein-Taybi Syndrome

This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the current state of knowledge about this syndrome.Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or straight nose, antimongoloid slant of palpebral fissures, apparent or clinical hypertelorism and grimacing smile; stature and head circumference (OFC) below 50th centile; mental, motor, social, and language retardation; stiff awkward gait; and incomplete or delayed descent of testes in males. Information on associated clinical factors, familial occurrence, and cytogenetic findings is presented

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Rubinstein-Taybi syndrome: A natural history study

Stevens

Carey

Blackburn

2005

Am. J. Med. Genet.

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In order to examine several aspects related to the natural history of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who had been diagnosed with the condition. The cases were ascertained through a national parent support group and all of the individuals had been reared at home. The most frequent problems encountered were inadequate weight gain in infancy, eye problems, dental abnormalities, congenital heart defects, urinary tract problems, and severe constipation. These medical disorders and others resulted in approximately 10 times the average number of hospitalizations and surgeries as the general population of children.None of the 91 sibs of our study group were affected with the condition. Thirty-seven patients had undergone psychological testing with an average I& of 51 and a range of 30 to 79. Timing for the attainment of various developmental stages was also determined. Individuals with Rubinstein-Taybi syndrome were found to have particular difficulty with expressive speech skills. Indexes for maladaptive behavior were calculated showing that approximately 10% of patients had significant behavior problems.

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Rubinstein-Taybi Syndrome

Cited by 13 publications

References 10 publications

Rubinstein-Taybi syndrome. Cutaneous manifestations and colossal keloids

Rubinstein-Taybi syndrome. Cutaneous manifestations and colossal keloids

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988

Rubinstein-Taybi syndrome: A natural history study

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