Dermatologic Manifestations of Rubinstein-Taybi Syndrome

Updated: Dec 09, 2016
  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD  more...
  • Print
Overview

Background

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation. [1, 2, 3]

For additional information, see the article Rubinstein-Taybi Syndrome.

Next:

Pathophysiology

The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate–response element binding protein (CBP) (CREBBP or CBP gene) that is responsible for the phenotype of Rubinstein-Taybi syndrome. CBP spans approximately 150 kb with 31 exons, and its cDNA is 9 kb in length. [4, 5, 6, 7] Genetically based growth retardation and feeding difficulties are the main problems in early life; however, respiratory tract infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy.

Milder variants of Rubinstein-Taybi syndrome have been reported, with less retardation and more subtle clinical features. These patients have been referred to as having "incomplete” Rubinstein-Taybi syndrome.

Previous
Next:

Epidemiology

Frequency

The prevalence of Rubinstein-Taybi syndrome in the general population is approximately 1 case per 300,000 persons and is as high as 1 case per 10,000 live births. Cantani and Gagliesi [8] reported that Rubinstein-Taybi syndrome is not so rare and is present in approximately 1 in 600 patients seen in mental retardation clinics. Most cases of Rubinstein-Taybi syndrome are sporadic, although it has been reported in monozygotic twins. Families with more than 1 affected child are extremely rare. [9]

Race

Rubinstein-Taybi syndrome has no racial predilection.

Sex

Rubinstein-Taybi syndrome has no sexual predilection.

Age

The syndrome can often be recognized in the neonatal period by the typical abnormalities seen in the thumbs, the great toes, and the face.

Previous
Next:

Prognosis

The survival rate is good, with frequent reports of adult patients with Rubinstein-Taybi syndrome. Patients with Rubinstein-Taybi syndrome have an increased risk of developing malignancies, including brain tumors (meningioma, medulloblastoma) and hematologic malignancies (leukemia). [9]  Genetically based growth retardation and feeding difficulties are the principal problems hindering the development of children. Respiratory tract infections and complications resulting from congenital heart disease are primary causes of morbidity and mortality in infancy. Milestones in patients with Rubinstein-Taybi syndrome are delayed.

Previous
Next:

Patient Education

The Web site Rubinstein-Taybi Syndrome is devoted to people with Rubinstein-Taybi syndrome and their families. Photographs of children and adults with Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome organizations around the world, and lists of books and other resources for families are available.

Previous