Maxillofacial Dysostosis

National Organization for Rare Disorders, Inc.

Skip to the navigation


It is possible that the main title of the report Maxillofacial Dysostosis 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.


  • autosomal dominant maxillofacial dysostosis

Disorder Subdivisions

  • None

General Discussion

Maxillofacial dysostosis is an extremely rare genetic disorder characterized by distinctive abnormalities of the head and face (craniofacial) area. Major symptoms include an underdeveloped (hypoplasia) upper jaw, downward-slanting palpebral fissures (which means that the opening between the eyelids slants downward), minor malformations of the external portion of the ears, and speech abnormalities. Maxillofacial dysostosis is inherited as an autosomal dominant trait. A second (distinct) form of maxillofacial dysostosis is believed to be inherited as an X-linked recessive trait.


The symptoms and physical findings associated with maxillofacial dysostosis may vary from one person to another. Because so few cases have been identified and reported, it will be difficult to obtain an accurate clinical picture of the disorder. Affected individuals or parents of affected children should talk to their physicians and medical team about their specific case and associated symptoms.

Characteristic findings associated with maxillofacial dysostosis include an underdeveloped (hypoplastic) upper jaw (maxilla), an abnormal downward slant of the opening between the eyelids (palpebral fissures), minor external ear malformations and speech abnormalities.

Although most individuals with maxillofacial dysostosis have normal intelligence, they are often mistakenly thought to be mentally challenged due to their language problems. Their progress should be carefully monitored and educators should be informed of the potential for delayed onset of speech and difficulties with speech development including poor speech articulation (dysarthria).

External ear abnormalities may include malformation of the upper, outer portion of the ear (pinna or auricle). Hearing loss was not seen in any of the individuals with maxillofacial dysostosis reported in the medical literature. Additional symptoms that have been reported in some cases of maxillofacial dysostosis include a sunken chest (pectus excavatum), incomplete or underdeveloped nipples, an abnormally flat skull, and a flattened bridge of the nose. Certain eye abnormalities including drooping of the upper eyelid (ptosis), crossed eyes (strabismus), and rapid, involuntary movements of the eyes (nystagmus) have also been reported.


Maxillofacial dysostosis is inherited as an autosomal dominant trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Maxillofacial dysostosis is extremely rare and the exact incidence of the disorder is unknown. Approximately 12 cases have been reported in the medical literature. Researchers believe that cases of maxillofacial dysostosis may go misdiagnosed or unrecognized making it difficult to determine the true frequency of the disorder in the general population. Maxillofacial dysostosis most likely affects males and females in equal numbers.

Standard Therapies


A diagnosis of maxillofacial dysostosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests to rule out other disorders.


The treatment of maxillofacial dysostosis is directed toward the specific symptoms that are apparent in each individual. Facial features may improve with age, often resulting in a near normal appearance by adulthood. When facial abnormalities are severe a variety of medical techniques including plastic surgery or orthodontic repair may be necessary.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at 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


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

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

Contact for additional information about maxillofacial dysostosis:

James Reynolds, MD, FAAP, FACMG

Medical Geneticist

Shodair Children's Hospital

2755 Colonial Drive

Helena, MT 59601

Phone: 800-447-6614




Gorlin RJ, Cohen MM Jr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. New York, NY: Oxford University Press; 2001:809.

Buyse ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1109.


Ensink RJH, Brunner HG, Cremers CWRJ. A new type of maxillofacial dysostosis, inherited as an x-linked recessive trait. Gen Couns. 1997;8:285-290.

Escobar V, Eastman J, Weaver D, Melnick M. Maxillofacial dysostosis. J Med Genet. 1977;14:355-358.

Melnick M, Eastman JR. Autosomal dominant maxillofacial dysostosis. Birth Defects Orig Art Ser. 1977;XIII(3B):39-44.


Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Maxillofacial Dysostosis. Entry No: 155000. Last Edited March 18, 2004. Available at: Accessed October 4, 2012.


Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240


Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763


FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373



Let's Face It

University of Michigan, School of Dentistry / Dentistry Library

1011 N. University

Ann Arbor, MI 48109-1078


Tel: (360)676-7325




PO Box 751112

Las Vegas, NV 89136


Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209



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


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 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