Binder syndrome also known as Binder type maxillonasal hypoplasia, is a rare congenital condition characterized by hypoplasia, or underdevelopment, of the central portion of the face. Binder syndrome is thought to be a rare disorder, occurring in approximately 1:10,000 live births. Some patients may remain undiagnosed, making accurate estimation of the incidence of Binder syndrome difficult. Patients with Binder syndrome tend to have hypoplasia of the maxilla, or upper jaw, and nose.
What causes Binder Syndrome?
The exact cause of Binder syndrome is not known. Most cases are thought to occur sporadically, meaning the trait was not passed down genetically from the parents. There have been families in which multiple family members have the syndrome. Inheritance of Binder syndrome in these cases is thought to occur in an autosomal recessive manner with incomplete penetrance. This means that both parents must carry the trait in order to pass it down to a child, and that the disease manifests itself to varying degrees, depending on the patient. There have been associations reported between Binder syndrome and vitamin K deficiency, prenatal exposure to warfarin, and prenatal exposure to phenytoin.
What are the signs and symptoms of Binder syndrome?
The main finding in patients with Binder syndrome is hypoplasia, or underdevelopment of the central midface. This includes a short, flattened nose with a short columella and underprojected nasal tip. The maxilla, or upper jaw, is underdeveloped. This gives the appearance of a flattened midface. Patients have a relative prognathism, in which the mandible (lower jaw) appears to project and be prominent compared to the upper jaw. This also leads to malocclusion, or incorrect bite in which the lower teeth are positioned anterior to, or in front of, the upper teeth. Patients with Binder syndrome tend to have a normal sense of smell.
In addition to abnormal facial development, patients with Binder syndrome may have anomalies in the cervical spine (upper part of the spine which supports the neck). There have also been reports of hearing impairment, congenital heart disease, and strabismus (misalignment of the eyes). Intellectual impairment has been reported, although the relationship with Binder syndrome is unclear.
Figure 1: Underdeveloped nose and maxilla in a patient with Binder syndrome
How is Binder syndrome diagnosed?
The diagnosis of Binder syndrome is largely based on clinical characteristics, patient history, and physical examination. Certain studies, such as CT scans and dental x-rays, are frequently used for treatment planning.
What treatments are available for patients with Binder syndrome?
Management of patients with Binder syndrome requires coordination of a multidisciplinary team of specialists, including craniofacial surgeons, orthodontists, dentists, and the patient’s pediatrician. Additional specialists may be needed in the case of spine or hearing abnormalities. The definitive treatment of patients with Binder syndrome is performed close to skeletal maturity, or when bone growth is nearly completed, during the teenage years. Routine dental and orthodontic visits prior to this time are needed to assure oral hygiene and health, and to prepare for surgical treatment if needed.
Mild cases of Binder syndrome may be treated with orthodontics. Moderate or severe cases typically require orthognathic, or jaw, surgery (see the orthognathic surgery section). This typically is done using a procedure called a LeFort I or LeFort II osteotomy. Under general anesthesia, osteotomies, or bone cuts, are made in the upper jaw, and it is repositioned forward. Depending on the severity, certain patients may benefit from moving the maxilla forward using distraction osteogenesis, in which controlled bone cuts are performed and the maxilla is gradually brought forward using distraction devices, allowing for new bone to be formed (please see distraction osteogenesis page). Certain patients benefit from surgery on the lower jaw, or mandible, depending on its position and relationship with the maxilla.
Timing of nasal reconstruction depends on the patient and severity of the deformity. Certain patients benefit from early surgery, in the school age years. Definitive rhinoplasties are typically performed after the jaw surgery, since this provides a stable bony foundation for the nasal reconstruction. Bone and or cartilage grafts are typically used to reconstruct the nose.
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.