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Frontofacionasal Dysplasia
Important
It is possible that the main title of the report Frontofacionasal Dysplasia
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
- Facio-Fronto-Nasal Dysplasia
- Frontofacionasal Dysostosis
- Nasal-fronto-faciodysplasia
- Cleft Lip-Palate, Blepharophimosis, Lagophthalmos, and Hypertelorism
Disorder Subdivisions
- None
General Discussion
Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasia) of the nose with malformation of the nostrils. Affected infants may also have abnormal narrowing of the folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis) and an unusually increased distance between the eyes (ocular hypertelorism). Additional eye abnormalities may include partial absence of tissue (coloboma) from the upper eyelids or the colored regions of the eyes (irides) and an inability to completely close the eyes (lagophthalmos). Frontofacionasal dysplasia appears to be inherited as an autosomal recessive 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
AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: 7027699264
Fax: 7023415351
Tel: 8884861209
Email: info@ameriface.org
Internet: http://www.ameriface.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
Prescription Parents
Prescription Parent, Inc.
P.O. Box 920554
Needham, MA 02492
USA
Tel: 6174991936
Email: info@prescriptionparents.org
Internet: http://www.prescriptionparents.com
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
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: 4/8/2008
Copyright 1992, 1994, 2000 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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