Maxillonasal Dysplasia, Binder Type

Maxillonasal Dysplasia, Binder Type

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Maxillonasal Dysplasia, Binder Type 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

  • Binder Syndrome
  • Maxillonasal Dysplasia
  • Nasomaxillary Hypoplasia

Disorder Subdivisions

  • None

General Discussion

Binder type maxillonasal dysplasia is a rare condition characterized by abnormal development (dysplasia) of the nasal and upper jaw (nasomaxillary) regions. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge; underdeveloped upper jaw; relatively protruding lower jaw (mandible); and/or a "reverse overbite" (class III malocclusion). In some reported cases, various additional abnormalities have also been present, particularly of the spinal column of the neck (cervical vertebral anomalies).



Many researchers suggest that Binder type maxillonasal dysplasia does not represent a distinct disease entity or syndrome, but, rather, is a nonspecific abnormality of the nasomaxillary regions. In most cases, the condition appears to occur randomly for unknown reasons (sporadically); rare familial cases have also been reported.

Symptoms

In most affected individuals, Binder type maxillonasal dysplasia is primarily characterized by malformation of the nasal and upper jaw (nasomaxillary) regions. The maxillae are the large bones that form the upper jaw and assist in the formation of the nasal cavities, the bony cavities containing the eyeballs (orbits), and the roof of the mouth (palate). The maxillae also contain the sockets of the upper teeth.



In those with Binder type maxillonasal dysplasia, characteristic facial abnormalities may include a small, short nose; flattening of the nasal tip and the "wings" forming the outer side of each nostril (alae); and flattening or depression of the nasal bridge. The condition is also typically characterized by shortness of the fleshy margin (columella) of the nasal septum, which is the central partition separating the two nasal cavities. (The nasal septum is composed of cartilage and bone and covered by mucous membrane [nasal mucosa].) In addition, when viewed from below, the nostrils have a distinctive "half-moon" or "cat's-ear" shape. Although there is also reduction of the nasal mucosa, affected individuals typically have a normal sense of smell.



Binder type maxillonasal dysplasia is also commonly associated with malocclusion, a dental condition in which teeth of the upper jaw are improperly positioned in relation to those of the lower jaw (mandible). More specifically, affected individuals may be predisposed to class III malocclusion, in which the mandible is too far forward, the cusps of the lower back teeth are abnormally positioned in front of corresponding upper (maxillary) back teeth, and the lower front teeth (incisors) meet or lie in front of the maxillary incisors.



Additional facial abnormalities are also often associated with Binder type maxillonasal dysplasia. The upper lip typically has an unusually convex or outwardly curved contour. Associated features also commonly include flattening of the maxillary base; poor development of the vertical groove in the center of the upper lip (philtrum); and/or absence or underdevelopment of certain air-filled spaces of the skull that open into the nasal cavities (frontal sinuses).



In some cases, additional symptoms and physical findings have been reported in association with the condition, such as hearing impairment; frequent upper respiratory tract infections; various malformations of the spinal column of the neck (cervical vertebral defects); abnormal sideways or front-to-back curvature of the spine; and/or other skeletal abnormalities. Less commonly, additional reported features have included incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); misalignment of the eyes (strabismus); various structural malformations of the heart (congenital heart defects); mild mental retardation; and/or other features.

Causes

In most cases, Binder type maxillonasal dysplasia appears to occur randomly for unknown reasons (sporadically). A few familial cases have also been described in which siblings or a parent and child have been affected. Some researchers suggest that familial cases may represent autosomal dominant or autosomal recessive inheritance with reduced penetrance.



Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In autosomal dominant disorders, a single copy of the disease gene (received from either the mother or father) may be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disease gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



In autosomal recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting both disease genes to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.



Reduced penetrance indicates that fewer than 100 percent of those with the defective gene(s) for the disorder exhibit associated symptoms and findings.



Although some investigators suggest that familial Binder type maxillonasal dysplasia may be transmitted as an autosomal dominant or autosomal recessive trait, others indicate that it probably does not result from "monogenic" transmission. Rather, they indicate that the condition may be caused by various complex genetic factors or "multifactorial" inheritance. Monogenic transmission is the acquisition of a particular trait, the transmission of which depends on a single gene, while multifactorial inheritance is determined by multiple genetic and, possibly, environmental factors.



As mentioned previously, many researchers indicate that Binder type maxillonasal dysplasia probably does not represent a distinct disease entity. Instead, they suggest that it may be a nonspecific abnormality of the nasomaxillary regions that may occur as an isolated condition or in association with various underlying syndromes. In addition, some investigators have noted that the condition should be classified as a mild form of chondrodysplasia punctata, rhizomelic type. Reports also indicate that some individuals diagnosed with Binder type maxillonasal dysplasia have had a maternal history of warfarin therapy during pregnancy. (For further information, please see the "Related Disorders" section of this report below.)

Affected Populations

Binder type maxillonasal dysplasia is a rare condition that appears to affect males and females in relatively equal numbers. Since the condition was described in the medical literature in 1962, more than 100 cases have been reported. Binder type maxillonasal dysplasia is detectable at birth but, in some cases, may not be diagnosed until years later.

Standard Therapies

Diagnosis

Reports indicate that, in some cases, a diagnosis of Binder type maxillonasal dysplasia may be suggested before birth (prenatally) by ultrasound. During fetal ultrasonography, reflected sound waves create an image of the developing fetus.



Binder type maxillonasal dysplasia may be diagnosed or confirmed at birth. However, as noted above, the condition may sometimes not be recognized until adolescence or later. The diagnosis may be made based upon a complete patient and family history, a thorough clinical evaluation, and specialized tests, including imaging techniques. X-ray findings may include underdevelopment (hypoplasia) or absence of a bony projection of the upper jaw (i.e., anterior nasal spine) that joins with bone of the nasal septum; thinness of a portion of the upper jaw (known as alveolar bone) that forms the dental arch over the upper incisors; hypoplasia or absence of frontal sinuses; and/or certain abnormalities detected with cephalometric studies, which are scientific measurements of particular craniofacial dimensions.



Treatment

The treatment of Binder type maxillonasal dysplasia may require the coordinated efforts of a team of medical professionals, such as pediatricians or internists; specialists in the diagnosis, prevention, and correction of malocclusion (orthodontists); oral and plastic surgeons; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); and/or other health care professionals.



Recommended treatment may include various orthodontic and surgical measures to help correct abnormalities of the jaw and nose, such as the use of orthodontic devices, surgery to reposition the jaw (orthognathic surgery), measures to expand tissues of the midface, bone grafts or implants, and/or other methods. In some cases, physicians may also recommend surgical or other measures to help treat additional abnormalities that may be associated with the condition. In individuals with Binder type maxillonasal dysplasia, specific surgical procedures performed will depend on the nature, severity, and/or combination of anatomical abnormalities, patient age, and other factors.



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

Investigational Therapies

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

Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:22, 190-92, 813-14.



Buyse ML. Birth Defects Encyclopedia. Dover, Mass: Blackwell Scientific Publications, Inc; 1990:731-32, 1110-11.



JOURNAL ARTICLES

Tonoki H. Maxillonasal dysplasia, Binder type. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):152.



Cook K, et al. The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. Ultrasound Obstet Gynecol. 2000;16:578-81.



Rune B, et al. Bone grafts to the nose in Binder's syndrome (maxillonasal dysplasia): a follow-up of eleven patients with the use of profile roentgenograms. Plast Reconstr Surg. 1998;101:297-304; discussion 305-06.



Tripi TR. Report of a case of maxillo-nasal dysplasia (Binder syndrome). Minerva Stomatol. 1997;46:609-14.



Monasterio FO, et al. Nasal correction in Binder's syndrome: the evolution of a treatment plan. Aesthetic Plast Surg. 1997;21:299-308.



Roy-Doray B, et al. Binder syndrome in a mother and her son. Genet Couns. 1997;8:227-33.



Quarrell OWJ, et al. Maxillonasal dysplasia (Binder's syndrome). J Med Genet. 1990;27:384-87.



Olow-Nordenram M, et al. The craniofacial morphology in persons with maxillonasal dysplasia (Binder syndrome). A longitudinal cephalometric study of orthodontically treated children. Am J Orthod Dentofacial Orthop. 1989;95:148-58.



Olow-Nordenram M, et al. An etiologic study of maxillo-nasal dysplasia: Binder's syndrome. Scand J Dent Res. 1988;96:69-74.



Olow-Nordenram M. Maxillonasal dysplasia (Binder's syndrome). A study of craniofacial morphology, associated malformations and familial relations. Swed Dent J Suppl. 1987;47:1-38.



Horswell BB, et al. Maxillonasal dysplasia (Binder's syndrome): a critical review and case study. J Oral Maxillofac Surg. 1987;45:114-22.



Gross-Kieselstein E, et al. Familial variant of maxillonasal dysplasia? J Craniofac Genet Dev Biol. 1986;6:331-34.



Harrod MJE, et al. Warfarin embryopathy in siblings. Obstet Gynec. 1981;57:673-76.

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



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



National Foundation for Facial Reconstruction

333 East 30th Street, Lobby Unit

New York, NY 10016

Tel: (212)263-6656

Fax: (212)263-7534

Internet: http://www.nffr.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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