Rubinstein Taybi Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Rubinstein Taybi Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder that affects many organ systems. RSTS is characterized by growth delays, distinctive facial features, intellectual disability (with an average IQ of 36-51), abnormally broad and often angulated thumbs and great toes (halluces), and feeding difficulties (dysphagia). The characteristic facial features of RSTS include downward slanted eyes (downslanted palpebral fissures), long eyelashes, high-arched eyebrows, low-hanging nasal septum (columella), high palate, grimacing smile, and an extra cusp on the lingual side of a front tooth (talon cusps).

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. Management generally involves monitoring of growth and feeding, yearly eye and hearing evaluations, and evaluation for cardiac, dental, and renal abnormalities. Behavioral therapy and special education are also indicated.

Supporting Organizations

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Website: http://www.ccakids.com

FACES: The National Craniofacial Association

PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

Rubinstein-Taybi Parent Group

P.O. Box 146
Smith Center, KS 66967-0146
USA
Tel: (785)697-2989
Tel: (888)447-2989
Email: lbaxter@ruraltel.net
Website: http://www.rubinstein-taybi.org

Rubinstein-Taybi Syndrome, UK Support Group

39 Hale Road
Heckington
NG34 9JN
United Kingdom
Tel: 447866190
Email: mail@rtsuk.org
Website: http://www.rtsuk.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  9/10/2015
Copyright  2015 National Organization for Rare Disorders, Inc.