Other Names for this Disease
- Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Median cleft syndrome
- Median facial cleft syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases.
Last updated: 1/9/2012
- Frontonasal dysplasia. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/809/viewAbstract. Accessed 1/9/2012.
- Frontonasal dysplasia. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250. Accessed 1/9/2012.
- Frontonasal dysplasia 1: FND1. Online Mendelian Inheritance of Man (OMIM). November 2011; http://omim.org/entry/136760. Accessed 1/9/2012.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Frontonasal dysplasia. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Frontonasal dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Frontonasal dysplasia. Click on the link to view a sample search on this topic.