Rubinstein-Taybi syndrome

Table of Contents

Alternative Names

Rubinstein syndrome


Treatment

There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.


Support Groups

Rubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org


Expectations (prognosis)

The majority of children can learn to read at an elementary level. The majority have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.


Complications

Complications depend on what the symptoms are. Feeding difficulties are common in infancy. Recurrent ear infections with hearing loss can result.

There may be abnormal heart structures at birth and abnormal heart rhythms.

There is an increased risk for keloid formation of the skin.


Calling your health care provider

Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.



Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)