Frontonasal Dysplasia

Common Name(s)

Frontonasal Dysplasia

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. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Frontonasal Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Frontonasal Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Frontonasal Dysplasia" returned 12 free, full-text research articles on human participants. First 3 results:

Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse.
 

Author(s): Keith S K Fong, Tiffiny Baring Cooper, Wallace C Drumhiller, S Jack Somponpun, Shiming Yang, Thomas Ernst, Linda Chang, Scott Lozanoff

Journal: Birth Defects Res. Part A Clin. Mol. Teratol.. 2012 Feb;94(2):102-13.

 

Intracranial lipomas are rare, but 45% of them occur along the midline cisterns between the hemispheres and are often associated with corpus callosum hypoplasia and craniofacial defects. They are difficult to detect as they are generally asymptomatic and visible by MRI or by postmortem ...

Last Updated: 8 Feb 2012

Go To URL
Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles.
 

Author(s): Melissa Zattoni Antoneli, Célia Maria Giacheti, Kátia Flores Genaro, Neivo Luiz Zorzetto, Antonio Richieri-Costa

Journal: Braz J Otorhinolaryngol. ;77(5):611-5.

 

Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found.

Last Updated: 27 Oct 2011

Go To URL
[A new prenatal diagnosis case of frontonasal dysplasia].
 

Author(s): V Guigue, A Martin, M Mangin, F Arbez-Gindre, E Labenne, L Olivier-Faivre, R Ramanah, D Riethmuller

Journal: J Gynecol Obstet Biol Reprod (Paris). 2011 Sep;40(5):476-80.

 

In a 30-year-old patient, the systematic second trimester fetal ultrasound discovered major facial abnormalities suggesting a frontonasal dysplasia (FND). The fetal karyotype was normal but no additional genetic testing was performed. Fetal MRI found an important hypertelorism and ...

Last Updated: 10 Aug 2011

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Frontonasal Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.