Diseases & Conditions


Opitz G/BBB Syndrome

Synonyms of Opitz G/BBB Syndrome
  • BBBG Syndrome
  • Hypertelorism-Hypospadias Syndrome
  • Hypertelorism with Esophageal Abnormalities and Hypospadias
  • Hypospadias-Dysphagia Syndrome
  • Opitz BBB/G Compound Syndrome
  • Opitz BBBG Syndrome
  • Opitz BBB Syndrome
  • Opitz-Frias Syndrome
  • Opitz G Syndrome
  • Opitz Hypertelorism-Hypospadias Syndrome
  • Opitz Oculogenitolaryngeal Syndrome
  • Opitz Syndrome
  • Telecanthus-Hypospadias Syndrome

Disorder Subdivisions

  • BBB Syndrome (Opitz)
  • G Syndrome

General Discussion
Opitz G/BBB Syndrome or Opitz Syndrome is a genetic disorder that may be evident at birth. The syndrome may be characterized by distinctive malformations of the head and facial (craniofacial) area, including widely set eyes (ocular hypertelorism); an abnormal groove in the upper lip (cleft lip); incomplete closure of the roof of the mouth (cleft palate); upwardly or downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); or a wide, flat nasal bridge. In addition, in affected males, abnormalities typically include failure of the testes to descend into the scrotum (cryptorchidism), clefting of the scrotum (bifid scrotum), or abnormal placement of the urinary opening (meatus) on the underside of the penis (hypospadias). Affected individuals may also have malformations of the windpipe (trachea) and the larynx, which connects the trachea and the throat (pharynx); underdevelopment of the lungs (pulmonary hypoplasia); and associated swallowing and breathing difficulties. Opitz Syndrome may also be characterized by additional abnormalities, including partial or complete closure of the anal opening (imperforate anus); underdevelopment or absence of the thick band of nerve fibers that joins the two hemispheres of the brain (hypoplasia or agenesis of the corpus callosum); kidney (renal) abnormalities; heart (cardiac) defects; or mental retardation.

Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for midline-1), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).

Organizations related to Opitz G/BBB Syndrome
  • 22q and You Center
    The Department of Clinical Genetics
    Philadelphia PA 19104
    Phone #: 215-590-2920
    800 #: --
    e-mail: [email protected]
    Home page: http://www.cbil.upenn.edu/VCFS/22qandyou/
  • 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/
  • Opitz G/BBB Family Network, Inc.
    P.O. Box 515
    Grand Lake CO 80447
    Phone #: 970-627-8935
    800 #: --
    e-mail: N/A
    Home page: http://www.opitznet.org
  • Opitz, John M., M.D.
    Division of Medical Genetics
    Salt Lake City UT 84132
    Phone #: 801-581-8943
    800 #: --
    e-mail: [email protected]
    Home page: N/A

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