Opitz G/BBB Family Connection
(Canada)

4525 Hillbank Road, British Columbia V0R 1N0

Phone: 250-748-5944  Fax:250-748-5988

NORD Description of Opitz G/BBB Syndrome

Copyright (C) 1991,1999, 2000 National Organization for Rare Disorders, Inc.

Synonyms
It is possible that Opitz Syndrome may not be the name that you expected. Your physician may have given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder.

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


Disorder Subdivisions:
G Syndrome
BBB Syndrome (Opitz)


Abstract (General Discussion)
The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case.

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).

Resources


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This information was provided by the National Organization for Rare Disorders, P.O. Box 8923, New Fairfield, CT 06812-8923, phone: (203) 746-6518, web site: www.rarediseases.org, e-mail: orphan@rarediseases.org.