Frontonasal Dysplasia

Frontonasal Dysplasia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Frontonasal 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

  • FND
  • Median Cleft Face Syndrome

Disorder Subdivisions

  • None

General Discussion

Frontonasal dysplasia, also known as median cleft face syndrome, is a very rare disorder characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical characteristics may include widely spaced eyes (ocular hypertelorism); a flat broad nose; and/or a vertical groove down the middle of the face. The depth and width of the vertical groove may vary greatly. 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. 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.

Symptoms

The physical characteristics associated with frontonasal dysplasia may vary greatly in severity from case to case. Features of this disorder include widely spaced eyes (ocular hypertelorism) and/or a vertical groove down the middle of the face. The depth and width of the groove may vary greatly among affected infants. The nose may be unusually flat and broad, have a "notched" or missing tip, or, in severe cases, may be completely divided in two.



Other physical characteristics associated with frontonasal dysplasia may include a V-shaped hairline that extends down onto the forehead (widow's peak), unusually small (slitlike) nostrils, an abnormal skin-covered gap in the front of the head (cranium bifidum occultum), and/or, in rare cases, a head that may appear abnormally short and wide (brachycephaly). Some infants with frontonasal dysplasia may also have incomplete closure of the roof of the mouth (cleft palate) and a vertical groove in the upper lip (cleft lip). The most severe clefts involve the lips, gums, and the bony front portion and/or soft back portions of the roof of the mouth (hard and soft palates). Less severe clefts may involve only one of these areas. (For more information on cleft lip and cleft palate, see the Related Disorders section of this report.)



In rare cases, infants with frontonasal dysplasia may also exhibit a form of cyanotic congenital heart disease (tetralogy of Fallot). The symptoms of tetralogy of Fallot include easy fatigability; rapid, shallow breathing; abnormal bluish coloration, especially of the lips and fingers; irregular heartbeats; and/or mild growth delays. (For more information on tetralogy of Fallot, see the Related Disorders section of this report.)



A subtype of frontonasal dysplasia called acromelic frontonasal dysplasia has been described in which central nervous system (CNS) and skeletal anomalies are combined with the craniofacial anomalies. The CNS anomalies include Dandy-Walker malformation. Dandy-Walker Malformation is characterized by absence (agenesis) of part of the brain (cerebellar vermis) and an abnormally large space at the back of the brain (cystic dilatation of the 4th ventricle). Other associated CNS anomalies are absence (agenesis) of the part of the brain that connects the two cerebral hemispheres (corpus callosum); protrusion of part of the brain and membranes that cover the brain (meninges) through an abnormal gap in the skull (encephalocele); abnormally wide ventricles in the brain that inhibit the flow of cerebral spinal fluid (hydrocephalus); protrusion of only the meninges through a defect in the skull (meningocele) and mental retardation. The associated skeletal anomalies include an underdeveloped or absent tibia bone, extra toes (preaxial polydactyly of the feet), and clubfoot (talipes). Males affected with acromelic frontonasal dysplasia sometimes have undescended testes.

Causes

Most cases of Frontonasal Dysplasia occur randomly for no apparent reason (sporadically). In a very few cases, a familial pattern has been identified, suggesting that frontonasal dysplasia can sometimes be inherited as an X-Linked dominant, autosomal dominant, or autosomal recessive genetic trait.



Some individuals with frontonasal dysplasia had parents who were related by blood (consanguineous). Parents who are close relatives have a higher chance that unrelated parents to both carry the same abnormal gene, which increases the risk to have a child with a recessive genetic disorder. Some scientists think that frontonasal dysplasia may be caused by the interaction of many genes (polygenic inheritance), possibly in combination with environmental factors (multifactorial inheritance).

Affected Populations

Frontonasal dysplasia is a very rare disorder that affects males and females in equal numbers. The number of people affected by this disorder is not known.

Standard Therapies

Frontonasal dysplasia is usually diagnosed shortly after birth (neonatal period). Confirmation of the diagnosis typically includes a thorough clinical evaluation, specialized tests including x-ray studies, and the identification of characteristic physical features. Genetic testing for frontonasal dysplasia is available on a research basis only.



Treatment of this disorder depends upon the severity of the physical characteristics in each individual case. Surgery may be performed to correct the craniofacial abnormalities (e.g., divided nose, cleft lip, etc.) associated with this disorder. In some cases, additional surgeries may be necessary when an affected child grows older.



Genetic counseling may be of benefit for affected individuals and their families. A team approach for infants and children with this disorder may be of benefit and may include special social, educational, and medical services. Other treatment is symptomatic and supportive.

Investigational Therapies

Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Buyse ML, ed. Birth Defects Encyclopedica. Blackwell Scientific Publications, 1990:672-73.



Pine JW, et al, ed. Textbook of Child Neurology, 5th Edition. Williams and Wilkins, 1995:294-99.



Jones KL ed. Smith's Recognizable Patterns of Human Malformaion, 4th Edition. W. B. Saunders, 1988:202.



ARTICLES

DeMoor MMA, Baruch R, and Human DG. Frontonasal dysplasia associated with tetrology of Fallot. J Med Genet 1987;24:107-109.



Fryberg JS, Persing JA and Lin KY. Frontonasal dysplasia in two successive generations. Am J Med Genet 1993;46:712-714.



Nevin NC Leonard AG, and Jones B. Frontonasal dysostosis in two successive generations. Am J Med Genet 1999;87:251-253.



Sedano HO, Cohen MM Jr., Jirasek, J, et al. Frontonasal dysplasia. J Pediat 1970;76:906-913.



Slaney SF, Goodman FR, Eilers-Walsman, et al. Acromelic frontonasal dysostosis. Am J Med Genet 1999;83:109-116.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, The Johns Hopkins University, Entry No. 136760; Last Update: 12/8/99, Entry No. 603671; Last Update 10/27/99.

Resources

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

Internet: 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

Internet: http://www.faces-cranio.org



AmeriFace

P.O. Box 751112

Limekiln, PA 19535

USA

Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Internet: http://www.ameriface.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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.

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