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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
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Copyright 1993, 1998, 2005, 2007
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
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@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
Suite 901A
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: info@forwardface.org
Home page: http://www.forwardface.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS 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 Foundation for Facial Reconstruction
317 East 34th Street
Room 901
New York NY 10016
Phone #: 212-263-6656
800 #: --
e-mail: N/A
Home page: http://www.nffr.org
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