Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.

Epidemiology

The estimated incidence is 1 in 100,000-125,000 live births .

Clinical presentation

The presence of a syndrome is usually evident at birth and becomes more obvious with increasing age as developmental delay becomes more pronounced. Features include :

Pathology

Most cases are thought to be sporadically deriving from de novo mutations at a locus on band 16p13.3, which encompasses the gene for the transcription co-factor cyclic adenosine monophosphate response element-binding protein-binding protein.

Other cases are due to a mutation in either CREB-binding protein (CBP) or E1A-binding protein (p300) .

Radiographic features

The radiology reflects the morphological abnormalities described above, particularly of the face, skull and limbs.

Treatment and prognosis

Despite an increased risk of developing intracranial tumors (meningioma and other brain tumors), and leukemia (which tend to occur before 15 years of age) life expectancy appears to be normal .

While significant advances in the knowledge of clinical manifestations and natural history of RTS have been made, guidelines for the healthcare and follow-up care of RTS have not been well updated after the proposal of Wiley et al. in 2003 .