National Organization for Rare Disorders, Inc.

IRF6-Related Disorders

Important
It is possible that the main title of the report IRF6-Related Disorders 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

• popliteal pterygium syndrome
• Van der Woude syndrome

Disorder Subdivisions

• None

General Discussion

IRF6-related disorders include a spectrum of disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. Individuals with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies.

The physical features associated with popliteal pterygium syndrome include cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition.

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 307
Dallas, TX 75240
USA
Tel: 2145709099
Fax: 2145708811
Tel: 8005353643
Email: csmith@ccakids.com
Internet: http://www.ccakids.com

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

AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: 7027699264
Fax: 7023415351
Tel: 8884861209
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
Tel: (919)933-9044
Fax: (919)933-9604
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: 9199339044
Fax: 9199339604
Tel: 8002425338
Email: info@cleftline.org
Internet: http://www.cleftline.org

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

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Wide Smiles
P.O. Box 5153
Stockton, CA 95205-0153
USA
Tel: 2099422812
Fax: 2094641497
Email: JoSmiles@yahoo.com
Internet: http://www.widesmiles.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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/2/2008
Copyright  1996, 1997, 2004 National Organization for Rare Disorders, Inc.

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