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"Resources" on this report.
Copyright 1989, 1990, 1992, 1995, 1997, 2004, 2006, 2009
NORD is very grateful to Uta Francke, M.D., Department of Genetics, Stanford University School of Medicine, and to Jinglan Liu, B. Med., M. Med., Ph.D., Division of Human and Molecular Genetics, The Children's Hospital of Philadelphia, for assistance in the preparation of this report.
Synonyms of Roberts Syndrome
- Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome
- Pseudothalidomide Syndrome
- SC Syndrome
Disorder Subdivisions
General Discussion
Roberts syndrome is a rare genetic disorder characterized by growth delays before and after birth (pre- and postnatal growth deficiency); malformations of the arms and legs (limbs); distinctive abnormalities of the skull and facial (craniofacial) region. Mental retardation occurs in some cases; normal intelligence has also been reported.
In infants with Roberts syndrome, the arms and legs may be incompletely developed (limb reduction abnormalities), however, such limb defects are usually symmetrical which are distinct from the asymmetrical limb defects in CdLS. Such abnormalities may range from absence of all four limbs (tetraphocomelia) to less severe degrees of limb reduction, such as underdevelopment and/or absence of certain bones of the upper arms (humeri), forearms (radii and/or ulnae), thighs (femurs), shins (tibiae), and/or outside of the lower legs (fibulae). Characteristic craniofacial abnormalities may include an unusually small, broad head (microbrachycephaly); abnormal grooves on either side of the upper lip (bilateral cleft lip); incomplete development of the roof of the mouth (cleft palate); thin, small wings of the nose (hypoplastic nasal alae); and/or low-set, malformed (dysplastic) ears. Additional abnormalities are often present. Robert’s syndrome is probably genetically heterogeneous. While it is inherited as an autosomal recessive trait in most families, the possibility of new mutation in an autosomal dominant gene cannot be excluded.
For many years, some researchers believed that Robert’s syndrome and SC phocomelia syndrome were separate disorders. However, researchers now believe that the two disorders are different expressions of one distinct disorder.
Organizations related to Roberts Syndrome
- AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: info@ameriface.org
Home page: http://www.ameriface.org
- Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@ccakids.com
Home page: http://www.ccakids.com
- FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Forward Face, Inc.
317 East 34th Street
Suite 901A
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: camille@forwardface.org
Home page: http://www.forwardface.org
- Francke, Uta, M.D.
Howard Hughes Medical Institute
Stanford University School of Medicine
Beckman Center
Bl295
Stanford CA 94305
Phone #: 415-725-8089
800 #: --
e-mail: N/A
Home page: N/A
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
- Reach: The Association for Children with Hand or Arm Deficiency
P.O. Box 54
Helston
Cornwall, Intl TR13 8WD
Phone #: 084-5 1-306225
800 #: --
e-mail: reach@reach.org.uk
Home page: http://www.reach.org.uk
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