X-linked Opitz G/BBB syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report X-linked 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.

Synonyms

  • XLOS
  • Opitz BBBG syndrome
  • Opitz-G syndrome
  • telecanthus-hypospadius syndrome (obsolete)
  • hypertelorism-hypospadius syndrome (obsolete)

Disorder Subdivisions

  • None

General Discussion

X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial anomalies, respiratory and genitourinary abnormalities and other midline defects as well as developmental delay or mental retardation. There is a wide variation in severity of this condition, even among members of the same family. X-linked Opitz G/BBB syndrome is an X-linked genetic condition associated with alterations (mutations) in the MID1 gene.
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Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Forward Face, Inc.
317 East 34th Street
Suite 901A
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223
Email: camille@forwardface.org
Internet: http://www.forwardface.org

AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Internet: http://www.ameriface.org

American Cleft Palate/Craniofacial Association (Physicians Only)
1504 East Franklin St.
Suite 102
Chapel Hill, NC 27514-2820
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Internet: http://www.cleftline.org

Cleft Palate Foundation
1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Internet: http://www.cleftline.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
Tel: (212)340-5400

AboutFace International
123 Edward Street, Suite 1003
Toronto
Ontario, M5G 1E2
Canada
Tel: 4165972229
Fax: 4165978494
Tel: 8006653223
Email: info@aboutfaceinternational.org
Internet: http://www.aboutfaceinternational.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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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