Diseases & Conditions


Roberts Syndrome

Synonyms of Roberts Syndrome
  • Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome
  • Pseudothalidomide Syndrome
  • SC Syndrome

Disorder Subdivisions

  • Phocomelia

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: [email protected]
    Home page: http://www.ameriface.org
  • 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
  • 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
  • Forward Face, Inc.
    317 East 34th Street
    New York NY 10016
    Phone #: 212-684-5860
    800 #: 800-393-3223
    e-mail: [email protected]
    Home page: http://www.forwardface.org
  • Francke, Uta, M.D.
    Howard Hughes Medical Institute
    Stanford CA 94305
    Phone #: 415-725-8089
    800 #: --
    e-mail: N/A
    Home page: N/A
  • 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/
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • NIH/National Institute of Child Health and Human Development
    31 Center Dr
    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
    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
    Cornwall, Intl TR13 8WD
    Phone #: 084-5 1-306225
    800 #: --
    e-mail: [email protected]
    Home page: http://www.reach.org.uk

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