Diseases & Conditions


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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome


Synonyms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
  • Blepharophimosis, Epicanthus Inversus, and Ptosis
  • BPES
  • Epicanthus Inversus Syndrome, Type II

Disorder Subdivisions

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

Organizations related to Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
  • AmeriFace
    PO Box 751112
    Las Vegas NV 89136
    Phone #: 702-769-9264
    800 #: 888-486-1209
    e-mail: info@ameriface.org
    Home page: http://www.ameriface.org
  • Blepharophimosis, Ptosis, Epicanthus Inversus Family Network
    SE 820 Meadow Vale Drive
    Pullman WA 99163
    Phone #: 509-332-6628
    800 #: --
    e-mail: Lschauble@gocougs.wsu.edu
    Home page: http://www.bpes.org.uk
  • Children's Craniofacial Association
    13140 Coit Road
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: csmith@ccakids.com
    Home page: http://www.ccakids.com
  • FACES: The National Craniofacial Association
    P.O. Box 11082
    Chattanooga TN 37401
    Phone #: 423-266-1632
    800 #: 800-332-2373
    e-mail: faces@faces-cranio.org
    Home page: http://www.faces-cranio.org
  • Forward Face, Inc.
    317 East 34th Street
    New York NY 10016
    Phone #: 212-684-5860
    800 #: 800-393-3223
    e-mail: info@forwardface.org
    Home page: http://www.forwardface.org
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • Society for the Rehabilitation of the Facially Disfigured, Inc.
    550 First Avenue
    New York NY 10016
    Phone #: 212-340-5400
    800 #: --
    e-mail: N/A
    Home page: N/A



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