Rubinstein Taybi Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Rubinstein Taybi Syndrome is not the name you expected.
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.
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- 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: email@example.com
- 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
- 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
- 158 S Hassett Cir
- Mesa, AZ 85208
- Tel: 480-432-3154
- Tel: (888)447-2989
- Email: firstname.lastname@example.org
- Website: http://www.rubinstein-taybi.org
Rubinstein-Taybi Syndrome, UK Support Group
- 39 Hale Road
- NG34 9JN
- United Kingdom
- Tel: 447866190
- Email: email@example.com
- Website: http://www.rtsuk.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.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
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