Frontofacionasal Dysplasia

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Frontofacionasal Dysplasia is not the name you expected.

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). The signs and symptoms of frontofacionasal dysplasia are highly variable. Frontofacionasal dysplasia appears to be inherited as an autosomal recessive trait.

Supporting Organizations

AmeriFace

PO Box 751112
Las Vegas, NV 89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Website: http://www.ameriface.org

American Cleft Palate-Craniofacial Association

1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Website: http://www.cleftline.org

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Website: http://www.ccakids.com

FACES: The National Craniofacial Association

PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

MyFace

333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Email: info@myface.org
Website: http://www.myface.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  2/12/2014
Copyright  2014 National Organization for Rare Disorders, Inc.