Diseases & Conditions


Robinow Syndrome

Synonyms of Robinow Syndrome
  • Acral Dysostosis with Facial and Genital Abnormalities
  • Costovertebral segmentation defect with mesomelia (formerly)
  • Fetal Face Syndrome
  • Robinow Dwarfism

Disorder Subdivisions

  • Robinow Syndrome Dominant Form
  • Robinow Syndrome Recessive Form (COVESDEM Syndrome)

General Discussion
Robinow syndrome is an extremely rare inherited disorder characterized by mild to moderate short stature due to growth delays after birth (postnatal growth retardation); distinctive abnormalities of the head and facial (craniofacial) area; additional skeletal malformations; and/or genital abnormalities. The facial features of infants with Robinow syndrome resemble those of an eight-week-old fetus; within the medical literature, this condition is often referred to as fetal face. Characteristic craniofacial features may include an abnormally large head (macrocephaly) with a bulging forehead (frontal bossing); widely spaced eyes (ocular hypertelorism) that are abnormally prominent; a small, upturned nose with nostrils that are flared forward (anteverted); and/or a sunken (depressed) nasal bridge. Skeletal malformations may include forearm bones (radius and ulna) that are unusually short (forearm brachymelia), abnormally short fingers and toes, permanent fixation of the fifth fingers in a bent position (clinodactyly), unusually small hands with broad thumbs, malformation of the ribs, abnormal side-to-side curvature of the spine (scoliosis), and/or underdevelopment of one side of the bones in the middle (thoracic) portion of the spinal column (hemivertebrae). Genital abnormalities associated with Robinow syndrome may include an abnormally small penis (micropenis) and failure of the testes to descend into the scrotum (cryptorchidism) in affected males and underdevelopment (hypoplasia) of the clitoris and the outer, elongated folds of skin on either side of the vaginal opening (labia majora) in affected females. The range and severity of symptoms vary from case to case.

In some cases, Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an autosomal recessive mode of inheritance. According to the medical literature, individuals with the recessive form of Robinow syndrome may have more numerous abnormalities of the ribs and the bones of the spinal column (vertebrae) than in the dominant form of the disorder. In addition, the symptoms and physical findings associated with the recessive form tend to be more severe.

Organizations related to Robinow Syndrome
  • 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
  • Congenital Heart Anomalies, Support, Education, & Resources
    2112 North Wilkins Road
    Swanton OH 43558
    Phone #: 419-825-5575
    800 #: --
    e-mail: [email protected]
    Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
  • Craniofacial Foundation of America
    975 East Third Street
    Chattanooga TN 37403
    Phone #: 423-778-9192
    800 #: 800-418-3223
    e-mail: [email protected]
    Home page: http://www.craniofacialcenter.com
  • Human Growth Foundation
    997 Glen Cove Avenue
    Glen Head NY 11545
    Phone #: 516-671-4041
    800 #: 800-451-6434
    e-mail: [email protected]
    Home page: http://www.hgfound.org/
  • Little People of America, Inc.
    250 El Camino Real
    Tustin CA 92780
    Phone #: 714-368-3689
    800 #: 888-572-2001
    e-mail: [email protected]
    Home page: http://www.lpaonline.org
  • MAGIC Foundation for Children's Growth
    6645 W. North Avenue
    Oak Park IL 60302
    Phone #: 708-383-0808
    800 #: 800-362-4423
    e-mail: [email protected]
    Home page: http://www.magicfoundation.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: [email protected]
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
    1 AMS Circle
    Bethesda MD 20892-3675
    Phone #: 301-495-4484
    800 #: 877-226-4267
    e-mail: [email protected]
    Home page: http://www.niams.nih.gov/Health_Info
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • Restricted Growth Association
    P.O. Box 4744
    Dorset Intl DT2 9FA
    Phone #: 013-08 -898445
    800 #: --
    e-mail: N/A
    Home page: http://www.restrictedgrowth.co.uk
  • Robinow Syndrome Foundation
    P.O. Box 1072
    Anoka MN 55303
    Phone #: 763-434-1152
    800 #: --
    e-mail: [email protected]
    Home page: http://www.robinow.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


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