Fraser Syndrome
Content provided by National Organization for Rare Disorders
Important
It is possible that the main title of the report Fraser 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
- Cryptophthalmos-Syndactyly Syndrome
- Cryptophthalmos Syndrome
- Cyclopism
- Fraser-Francois Syndrome
- Meyer-Schwickerath's Syndrome
- Ulrich-Feichtiger Syndrome
Disorder Subdivisions
- None
General Discussion
Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness. In infants with Fraser syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis). In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypospadias), and/or the penis may be abnormally small (micropenis). Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus). In addition, the folds of skin on either side of the vaginal opening (labia) may be abnormally fused. Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment. Fraser syndrome is inherited as an autosomal recessive genetic trait.
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
American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
USA
Tel: 3018813052
Fax: 3018810898
Tel: 8006388299
Email: helpline@kindeyfund.org
Internet: http://www.kidneyfund.org
AboutFace USA
PO Box 158
South Beloit, IL 61080
USA
Tel: 8884861209
Email: info@AboutFaceUSA.org
Internet: http://www.aboutfaceusa.org
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Internet: http://www.kidney.org
National Foundation for Facial Reconstruction
317 East 34th St.
#901
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Tel: (800)422-3223
Email: whitney@nffr.org
Internet: http://www.nffr.org
National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643
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: 4/21/2006
Copyright 1989, 1997, 2006 National Organization for Rare Disorders, Inc.
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| Last updated: | April 21, 2006 |
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Copyright 1989, 1995, 1996, 1997, 2003 National Organization for Rare Disorders, Inc.
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