What is the life expectancy for Rubinstein-Taybi syndrome?

The disorder is fatal in children. Life expectancy does not surpass five years of age. The disorder’s cause is genetic.

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What causes Rubinstein-Taybi?

Causes of Rubinstein-Taybi Syndrome are mutations in the CREBBP or EP300 genes. 3 Type 1 of the condition results from a mutation in the EP300 gene, whereas Type 2 of the condition results from a mutation in the CREBBP gene.

Is there a cure for Rubinstein-Taybi syndrome?

There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

Is Rubinstein-Taybi syndrome a rare disease?

RSTS is a rare disorder that affects males and females in equal numbers. The exact incidence of RSTS is unknown, although a study in the Netherlands estimates the incidence to be between one in 100,000 to one in 125,000 individuals.

How common is RTS?

RTS is found equally in both males and females and is rare, occurring in 1 out of every 100,000 to 300,000 live births. In most cases, the occurrence of RTS is random with no other family members with the syndrome. There is, however, an increase in the number of cases being reported each year.

What is a Rubinstein Taybi test?

The Invitae Rubinstein-Taybi syndrome test analyzes two genes associated with Rubinstein-Taybi syndrome (RSTS), a multisystem disorder characterized by short stature, recognizable facial features, broad thumbs and great toes, and moderate to severe intellectual disability.

What is a Rubinstein-Taybi test?

What causes RTS?

Disease at a Glance The syndrome may be caused by a genetic change in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown.

Is RTS hereditary?

In most affected children, RSTS occurs as the result of a new (de novo) gene mutation, although rarely, the syndrome has been inherited from an affected parent in an autosomal dominant pattern.

Is Rubinstein Taybi syndrome a rare disease?

When is Rubinstein Taybi diagnosed?

Furthermore, RTS may be confirmed by genetic testing for a deletion or mutation in chromosome 16p, although not all patients carry a mutation in this area. While some children with more severe characteristics are diagnosed at birth, those more mildly affected may not be diagnosed until adolescence.