National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Roberts Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
Forward Face, Inc.
317 East 34th Street
New York, NY 10016
PO Box 751112
Las Vegas, NV 89136
Francke, Uta, M.D.
Howard Hughes Medical Institute
Stanford University School of Medicine
Stanford, CA 94305
Reach: The Association for Children with Hand or Arm Deficiency
P.O. Box 54
Cornwall,, Intl TR13 8WD
Tel: 0845 1306225
Fax: 0845 1300262
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
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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