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NORD gratefully acknowledges Scott P. Bartlett, MD, Chief, Division of Plastic and Reconstructive Surgery, Director, Craniofacial Program, Professor of Plastic Surgery, Perelman School of Medicine at The University of Pennsylvania, for assistance in the preparation of this report.
Binder type maxillonasal dysplasia is a rare developmental defect that is present at birth (congenital). The disorder is characterized by the underdevelopment (hypoplasia) of the central portion of the face, particularly the area including the nose and upper jaw (maxillonasal region). The specific symptoms and the severity of the disorder can vary from one person to another. Characteristic symptoms include an abnormally short, flattened nose and underdevelopment of the upper jaw bone (maxillary bone). The exact cause of Binder syndrome is not fully understood. Most cases appear to occur sporadically, but familial cases have been reported as well. Surgical and orthodontic treatment is recommended.
Binder type maxillonasal dysplasia was first described in the medical literature as far back 1882. Dr. Noyes described the essential features in a single patient in 1939. Dr. von Binder first identified the condition as a distinct clinical entity in 1962 in a comprehensive report of three children; the disorder now bears his name. There is some debate in the medical literature as to whether Binder type maxillonasal dysplasia is a syndrome or an association. A syndrome is typically a genetic disorder, in which a group of symptoms consistently occur together. An association is a nonrandom collection of birth defects that may have been caused by a number of factors, including genetic ones, and can potentially be associated with a variety of underlying conditions.
Although researchers have been able to establish characteristic or "core" symptoms, much about Binder type maxillonasal dysplasia is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing an accurate picture of associated symptoms and prognosis.
The characteristic finding of the disorder is the abnormal development (dysplasia) of the central or mid portion of the face. The midface appears abnormally flattened. In some cases the frontal sinuses may be underdeveloped or absent. Affected individuals have a short nose and flattened bridge of the nose. The nasal bones may be underdeveloped or abnormally positioned. The bottom of the sheet of cartilage and bone (nasal septum) that separates the right and left nostrils is known as the columella. The columella is abnormally short and the nostrils have a half-moon or comma-shaped appearance. In cases where the columella is severely short, the nostrils may appear triangular. The upper lips may be slanted backward. Despite the various nasal abnormalities, the sense of smell is unaffected.
Underdevelopment (hypoplasia) upper jaw (maxillary bone) is another key feature of Binder type maxillonasal dysplasia. The maxillae are the large bones of that form the upper jaw and assist in the formation of the nasal cavities, the bony cavities of the eyes (orbits), and the roof of the mouth (palate). The maxillae also contain the sockets of the upper teeth. Hypoplasia of the upper jaw may cause the lower jaw (mandible) to appear to protrude or stick out (relative prognathism). However, in some cases, the mandible may actually be longer than normal (true prognathism). Affected individuals also develop malocclusion, a condition in which the upper teeth are improperly positioned in relation to the lower teeth. More specifically, affected individuals may be predisposed to a reverse overbite (class III malocclusion), in which the lower jaw is too far forward, the cusps of the lower back teeth are abnormally positioned in front of the corresponding upper teeth, and the lower front teeth (incisors) meet or lie in front of the corresponding upper incisors.
In some cases, additional symptoms and physical findings have been reported in association with this condition. Individuals with Binder type maxillonasal dysplasia seem to be at an increased risk of various malformations of the spine (vertebrae). Less often, affected individuals exhibit hearing impairment, incomplete closure of the roof of the mouth (cleft palate), misalignment of the eyes (strabismus), structural malformations of the heart (congenital heart defects), mild intellectual disability, and other features. However, the exact relationship between these findings and Binder type maxillonasal dysplasia is unknown and they may not represent symptoms of the disorder.
The exact, underlying cause of Binder type maxillonasal dysplasia is not fully understood. In many cases, the disorder is believed to occur spontaneously, for no apparent reason (sporadically). However, there have been reports in the medical literature of families in which more than one family member was affected. This suggests that genetic factors play a role in some cases. Some researchers have suggested that Binder type maxillonasal dysplasia is a genetic disorder inherited in either an autosomal dominant or recessive manner. Other researchers have suggested that the disorder is caused by complex genetic factors, specifically the interaction of many different genes, possibility in combination with environmental factors (multifactorial inheritance).
Researchers have identified several environmental factors that may be associated with Binder type maxillonasal dysplasia including birth trauma, vitamin K deficiency, or exposure of a developing infant to an anti-seizure drug known as Phenytoin or to an anti-blood clotting (anticoagulant) drug known as warfarin. No suspected environmental agent has been conclusively linked to Binder type maxillonasal dysplasia.
Some researchers believe that specific cases of Binder type maxillonasal dysplasia may actually be mild forms or variants of chondrodysplasia punctata (CDP), a general term for a group of disorders characterized by abnormalities affecting the development of cartilage and bone (skeletal dysplasias). A variety of additional symptoms and physical features can develop. A characteristic finding of CDP is the formation of small, hardened spots of calcium on the "growing portion" or heads of the long bones (stippled epiphyses) or inside other areas of cartilage in the body. However, over time there is loss of epiphyseal stippling. Individuals who receive a diagnosis of Binder type maxillofacial dysplasia until their teen-age years or older may actually have CDP, but the distinctive epiphyseal stippling is gone so that a diagnosis of CDP is not considered.
Binder type maxillonasal dysplasia is a rare congenital condition that affects males and females in equal numbers. The exact incidence or prevalence is unknown. One estimate suggests that Binder syndrome occurs in less than 1 per 10,000 live births. However, cases may go undiagnosed or misdiagnosed making it difficult to determine the true frequency in the general population.
Symptoms of the following disorders can be similar to those of Binder type maxillonasal dysplasia. Comparisons may be useful for a differential diagnosis.
Chondrodysplasia punctata, rhizomelic type (CDPR), is a rare, multisystem disorder that has been shown to be associated with impaired peroxisomal functioning. Peroxisomes are tiny, specialized structures (organelles) within cells that play an essential role in various, ongoing chemical and physical processes in the body (metabolism). CDPR is characterized by the appearance of abnormal, dot-like opacities representing an accumulation of calcium salts (calcification) within the growing ends of certain long bones (i.e., stippled epiphyses); shortening of the long bones of the upper arms (humeri) and the thigh bones (femora); and short stature. The disorder is also typically associated with irregularities of certain bones of the spinal column (vertebrae) and fixed bending or extension of multiple joints (contractures). Affected individuals may also have facial abnormalities that resemble those associated with Binder type maxillonasal dysplasia, such as a flattened midface (midface hypoplasia), with underdevelopment of the nose (nasal hypoplasia), a low nasal bridge, and small nostrils. Additional abnormalities may include an unusually small head (microcephaly); upwardly slanting eyelid folds (palpebral fissures); loss of transparency of the lenses of the eyes (cataracts); abnormal thickening, dryness, and scaling of the skin (ichthyosis); and/or severe mental retardation. CDPR is inherited as an autosomal recessive trait. As mentioned above, some researchers suggest that some cases of Binder type maxillonasal dysplasia should be classified as a mild form of CDPR.
Fetal warfarin syndrome refers to a characteristic pattern of birth defects in a newborn resulting from exposure to certain anticlotting drugs (coumarin group), such as warfarin, during pregnancy. Evidence suggests that the greatest period of risk occurs from approximately six to nine weeks following conception. The most consistent feature is midfacial hypoplasia, with an unusually small, flattened nose; a deep groove between the "wings" of the nose (alae) and the tip; and abnormally small nostrils. Additional abnormalities may include growth deficiency before birth; intellectual disability; an abnormally small head (microcephaly); hearing loss; sudden episodes of uncontrolled electrical activity in the brain (seizures); cataracts; abnormal clouding of the normally transparent regions forming the front of the eyeballs (corneal opacities); and/or other features. As noted previously, some individuals diagnosed with Binder type maxillonasal dysplasia have had a maternal history of warfarin therapy during pregnancy. In addition, maternal use of certain anticlotting agents in early pregnancy may result in features resembling CDPR, including nasal hypoplasia, abnormal accumulation of calcium salts (calcification) within the growing ends of certain long bones (stippled epiphyses), disproportionate short stature, and/or other abnormalities.
Several disorders can have symptoms and physical findings that are similar to those seen in individuals with Binder syndrome including acrodysostosis, Apert syndrome, Keutel syndrome, Stickler syndrome, and various metabolic or chromosomal disorders. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)
A diagnosis of Binder syndrome is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. Certain specialized tests can be used to confirm the diagnosis.
Clinical Testing and Workup
Specialized imaging techniques may be used to help obtain a diagnosis of Binder syndrome. Such tests include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.
Such exams may yield specific findings including underdevelopment or absence of the bony protrusion that projects from the base of the nasal septum to join with the middle part of the upper jaw (anterior nasal spine); thinness of a portion of the upper jaw known as the alveolar bone, which forms the dental arch over the upper incisors; underdevelopment or absence of the frontal sinuses; and/or certain abnormalities detected with cephalometric studies, which are scientific measurements of particular craniofacial dimensions.
The treatment of Binder syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians or general internists, oral and plastic surgeons, craniofacial surgeons, specialists in the diagnosis, prevention, and treatment of crooked teeth (orthodontists), specialists in the diagnosis and treatment of disorders of the bones, joints, ligaments and muscles (orthopedists), and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment. Psychosocial support for the entire family is essential as well.
There are no standardized treatment protocols or guidelines for affected individuals. Due to the rarity of the disease, there are no treatment trials that have been tested on a large group of patients. Various treatments have been reported in the medical literature as part of single case reports or small series of patients. Treatment trials would be very helpful to determine the long-term safety and effectiveness of specific medications and treatments for individuals with Binder syndrome.
Recommended treatment may include various orthodontic and surgical measures to help correct abnormalities of the jaw and nose. The specific therapeutic procedures performed will vary depending upon the nature and severity of the disorder in each individual including the specific anatomical abnormalities present, a patient’s general health, a patient’s age, patient preference, and other factors. Often more than one surgical procedure is necessary. The specific type and timing of an individual surgical procedure is determined based upon disease severity and patient age. Some affected children have been treated during childhood, while others are not treated until the late teen-age years, which is when the bone stops growing.
Some individuals may only require treatment with orthodontic devices such as braces that can straighten teeth or reposition the jaw. Nose (nasal) reconstruction can be accomplished with bone or cartilage grafts, or the implantation of alloplastic materials. In some cases, the grafting of cartilage from the ribs has been used successfully to reconstruct the nose (costochondral graft).
More severe cases require surgical procedures known as Le Fort I or II osteotomy. During Le Fort I osteotomy, the upper jaw is sectioned and repositioned to treat malocclusion and, if present, cleft palate. Le Fort II osteotomy involves repositioning the upper jaw and nose and correcting the backward displacement (retrusion) of the middle portion of the face.
Additional procedures that have been used to treat Binder syndrome include attempting to lengthen the columella of the nose by suing free auricular grafts, small skin flaps from the upper lip, and bilateral flaps from the nasal floor.
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Report last updated: 2014/10/09 00:00:00 GMT+0