Rubinstein Taybi Syndrome / Disease

Diseases & Conditions

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Rubinstein Taybi Syndrome

Synonyms of Rubinstein Taybi Syndrome

Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome
RSTS
Rubinstein syndrome
Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome

Disorder Subdivisions

General Discussion
Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or beak-shaped nose; abnormally broad thumbs and great toes (halluces); and/or breathing and swallowing difficulties. In addition, most affected children experience delays in attaining developmental milestones (e.g., sitting, crawling, walking, talking, etc.) and/or delays in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Additional craniofacial abnormalities may include an abnormally small head (microcephaly); a highly-arched roof of the mouth (palate); an unusually small (hypoplastic) lower jaw (micrognathia); crossed eyes (strabismus); droopy eyelids (ptosis); downwardly slanting eyelid folds (palpebral fissures); and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds). In addition, many individuals with Rubinstein-Taybi syndrome may have malformations of the heart, kidneys, urogenital system, and/or skeletal system. In most cases, the skin is also affected. The range and severity of symptoms and physical findings may vary widely from case to case. Most cases of Rubinstein-Taybi syndrome occur randomly, for no apparent reason (sporadic).

Organizations related to Rubinstein Taybi Syndrome

Children's Craniofacial Association
13140 Coit Road
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: [email protected]
Home page: http://www.ccakids.com
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: [email protected]
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: [email protected]
Home page: http://www.faces-cranio.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
National Craniofacial Foundation
3100 Carlisle Street
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
Rubinstein, Jack H.
Rubinstein-Taybi Case Documentation
Cincinnati OH 45229-2899
Phone #: 513-559-4688
800 #: --
e-mail: N/A
Home page: N/A
Rubinstein-Taybi Parent Group USA
P.O. Box 146
Smith Center KS 66967-0146
Phone #: 785-697-2989
800 #: 888-447-2989
e-mail: [email protected]
Home page: http://www.rubinstein-taybi.org
Rubinstein-Taybi Syndrome UK Support Group
c/o Rosemary Robertson
Herefordshire Intl HR4 8EU
Phone #: 015-68 -720350
800 #: --
e-mail: [email protected]
Home page: http://www.rtsuk.org
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html