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 on the 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. Roberts 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.
Initially, researchers believed that Roberts syndrome and SC phocomelia syndrome were separate disorders. However, researchers now believe that the two disorders are different expressions of one distinct disorder because different changes in the same gene are the underlying cause for both conditions.
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Children's Craniofacial Association
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FACES: The National Craniofacial Association
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March of Dimes Birth Defects Foundation
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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.
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Last Updated: 1/8/1970
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