It is possible that the main title of the report Craniofrontonasal 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.
- Craniofrontonasal Dysostosis
- Craniofrontonasal Syndrome
Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin. In addition, the head may have an unusual shape due to premature closure of the fibrous joints (sutures) between certain bones in the skull (coronal synostosis). Craniofrontonasal dysplasia follows X-linked inheritance in most families, but females are more severely affected than males. An autosomal dominant form of the disorder has also been discussed in the medical literature.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Forward Face, Inc.
333 East 30th Street, Lobby Unit
New York, NY 10016
P.O. Box 751112
Limekiln, PA 19535
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126