Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ruvalcaba Syndrome


Synonyms of Ruvalcaba Syndrome
  • Osseous dysplasia with mental retardation, Ruvalcaba type

Disorder Subdivisions



    General Discussion
    Ruvalcaba syndrome is a rare inherited disorder characterized by short stature, abnormalities affecting the head and facial (craniofacial) area, mental retardation, skeletal malformations, and/or underdeveloped (hypoplastic) genitalia. Characteristic craniofacial features include an abnormally small head (microcephaly); an abnormally small, narrow nose; and down-slanting eyelid folds (palpebral fissures). Skeletal malformations may include fifth fingers that are permanently fixed in a bent position (clinodactyly) and/or abnormally short bones between the wrists and the fingers (metacarpals) and the ankles and toes (metatarsals), resulting in unusually small hands and feet. In addition, affected children may have abnormal side-to-side curvature of the spine (scoliosis) and/or unusual prominence of the breastbone (pectus carinatum). Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait.

    Organizations related to Ruvalcaba Syndrome
    • 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
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: hgf1@hgfound.org
      Home page: http://www.hgfound.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: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • 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: info@thearc.org
      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