Congenital malformation complex characterised by small head, so-called bird face with beaked nose, high arched palate, downward slant of the eyes, broad flat thumbs and big toes, short stature, motor and mental retardation, with an IQ in the 17-86 range, and failure to thrive. There is also susceptibility to respiratory infections. Aetiology unknown, almost all cases have been sporadic.
At the 1998 International Family Conference on Rubinstein-Taybi syndrome, at Cincinnati, Ohio, Rubinstein gave a "Historical Overview of the Broad Thumb-Hallux (Rubinstein-Taybi) Syndrome". We quote:
- "In 1957, Michail, Matsoukas, and Theodorou from Athens, Greece, described in a French orthopedic journal a 7-year old boy with radially deviated arched thumbs. Associated findings included mental deficiency, "comical" face, long "Cyrano-type" nose, muscular hypotonia, cryptorchidism, flat feet, physical underdevelopment and funnel chest.
Unfortunately, since I did not routinely read the French orthopedic journals, I was not aware of the excellent case report when, in 1957 I evaluated the 18th child seen in what was then our newly opened diagnostic clinic. She was a 3 1/2 year old little girl with slightly unusual facial and digital findings.
In 1958, I saw the 41st child at our clinic, a 7-year old boy for diagnostic evaluation. I felt that these two unrelated children resembled each other closely enough to make one wonder if they might not have the same syndrome.
In 1959-1960, I tried to gather other examples of the possible "syndrome" by distributing the two case histories and photos to other clinics in the United States. There were almost no responses!
In January 1960, Dr. W. C. Marshall of the Hospital for Sick Children, Great Ormond Street, London, at the suggestion of Dr. Josef Warkany of Cincinnati, sent me photos on two unrelated children that he had seen. They indeed seemed to resemble the two children that I had seen; however, their radially deviated thumbs were different from my two cases, so I wasn't completely certain.
In 1960, I passed our waiting room and saw an 8 1/2 year old girl whom I was certain was Case 1, but a few years older.
I first met Dr. Hooshang Taybi in 1955, when he was in Pediatric Radiology Training, and I was in Pediatric Training at Children's Hospital in Cincinnati.
In 1961, Dr. Taybi, who was then at the University of Oklahoma, sent information, photos and x-rays on a fourth child, a 3-year old little boy.
In 1963, Dr. Taybi and I reported on seven children, two girls and 5 boys that we had seen with broad thumbs and great toes together with "unusual" facial features as a possible mental retardation syndrome. In June 1963, the publication appeared in the American Journal of Diseases of Children.
In 1964, the series by Dr. Coffin and in 1966, the series by Dr. Johnson were published.
In 1973, ten years after our initial publication, a letter to the editor entitled "Fatherhood of the so-called Rubinstein-Taybi Syndrome" by Dr. Matsoukas suddenly appeared which made me acutely aware of the 1957 Greek article."
- J. Michail, J. Matsoukas, S. Theodorou:
Pouce bot argue en forte abduction-extension et autres symptomes concomitants.
Revue de chirurgie orthopédique et réparatrice de l'appareil locomoteur, Paris, 1957, 43: 142-146.
- J. H. Rubinstein, H. Taybi:
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
American Journal of Diseases of Children, Chicago, 1963, 105: 588.
- Grange S. Coffin (born 1923):
Brachydactyly, peculiar facies and mental retardation.
American Journal of Diseases of Children, Chicago, 1964, 108: 351-359.
- H. Taybi, J. H. Rubinstein:
Broad thumbs and toes and unusual facial features: A probable mental retardation syndrome.
The American Journal of Roentgenology, Radium Therapy and Nuclear Medicine, 1965, 93: 362-366.
- J. Matsoukas:
Fatherhood of the so-called Rubinstein-Taybi Syndrome.
American Journal of Diseases of Children, Chicago, 1973, 126: 860.