Opitz G/BBB Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Opitz G/BBB Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- BBBG Syndrome
- Hypertelorism with Esophageal Abnormalities and Hypospadias
- Hypertelorism-Hypospadias Syndrome
- Hypospadias-Dysphagia Syndrome
- Opitz BBB Syndrome
- Opitz BBBG Syndrome
- Opitz BBB/G Compound Syndrome
- Opitz G Syndrome
- Opitz Hypertelorism-Hypospadias Syndrome
- Opitz Oculogenitolaryngeal Syndrome
- Opitz-Frias Syndrome
- Telecanthus-Hypospadias Syndrome
- Opitz Syndrome
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).
Opitz G/BBB Family Network, Inc.
P.O. Box 515
Grand Lake, CO 80447
Opitz, John M., M.D.
Division of Medical Genetics
2C 412 SOM
50 North Medical Dr
Salt Lake City, UT 84132
22q and You Center
The Department of Clinical Genetics
The Children's Hospital of Philadelphia
One Children's Center
34th Street and Civic Center Boulevard
Philadelphia, PA 19104
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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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