Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Important
It is possible that the main title of the report Blepharophimosis, Ptosis, Epicanthus Inversus 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

Blepharophimosis, Epicanthus Inversus, and Ptosis
BPES
Epicanthus Inversus Syndrome, Type II

Disorder Subdivisions

BPES Type I
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, Type I
BPES Type II
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, Type II

General Discussion

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disorder that is inherited as an autosomal dominant trait. The main findings of this disorder are eyelids that are abnormally narrow horizontally (blepharophimosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and drooping of the upper eyelids (ptosis). There are thought to be two types of the syndrome. Type I BPES may involve female infertility and is inherited as an autosomal dominant genetic trait. Both male and female children of a male with type I BPES have a 50% chance of being affected. If females with type I BPES are able to have children, the odds are 50% that each child (male or female) will have type I BPES. Type II BPES is also transmitted as an autosomal dominant genetic trait. Either parent may transmit the disorder and the children have a 50% chance of being affected. Type II is not associated with female infertility.

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

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

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

Blepharophimosis, Ptosis, Epicanthus Inversus Family Network
SE 820 Meadow Vale Drive
Pullman, WA 99163
Tel: (509)332-6628
Email: Lschauble@gocougs.wsu.edu
Internet: http://freespace.virgin.net/andy.bowles/

AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: 7027699264
Fax: 7023415351
Tel: 8884861209
Email: info@ameriface.org
Internet: http://www.ameriface.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

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: 7/23/2007
Copyright 1993, 1998, 2005, 2007 National Organization for Rare Disorders, Inc.

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