Signs and Symptoms

The external ear, the middle ear and the internal ear are deformed to some extent. In some situations, these structures are completely absent. Cleft palate can also occur if the palatal shelves have not fused Cleft lip is also a common feature. A patient of Mandibulofacial Dysostosis has a high palatal arch-giving rise to speech difficulties. The teeth are abnormally positioned and do not always relate to those in the opposing arch/bone resulting in malocclusion. Another striking feature of the disease is the presence of blind fistulas* between the angle of the mouth and the ears. There is unusual growth of hair converging towards the cheeks. This gives a fish like appearance to the face. 

It is theorized that Mandibulofacial Dysostosis occurs due to the failure of the maxillary mesoderm to develop beyond what is called the 50 mm stage of the embryo. This means that the trigger that spurs the development of the head and neck region is either faulty or completely absent. This theory is supported by evidence of teeth formation by the sixth week of fetal life. The teeth in the upper jaw are especially affected in this condition and are place in quite unusual positions. Sometimes they fail to erupt and are embedded in the bone itself. Patients with Mandibulofacial Dysostosis are prone to fracture quite easily because of the fragile nature of facial bones. Even a push could bruise the face quite easily. Because of the malformation of the ears, patients can also suffer from hearing loss. 

A syndrome called as the Goldenhar syndrome has similar features as the Mandibulofacial Dysostosis. It is also called as hemifacial microsomia, but occurs less frequently than MD. In Goldenhar syndrome, the defects are unilateral in distribution as against the bilateral features in MD and is postulated to occur due to the interruption in blood supply to the face. 

Diagnosis

A diagnosis of Mandibulofacial Dysostosis is made on clinical grounds and is confirmed by X-ray, which typically demonstrate the thin bones especially in the facial region. 

Treatment

There is no known treatment for Mandibulofacial Dysostosis. Any treatment is symptomatic and cosmetic and patients are known to live an otherwise normal life well into adulthood. Malocclusion and teeth problems would need dental correction.

FAQs

Which doctor should I consult for Mandibulofacial Dysostosis?
An oral surgeon is the best person to deal with this problem. Later on the services of a speech therapist and a cosmetic surgeon could also be required. 

Is MD hereditary? 
Yes, Mandibulofacial Dysostosis is inherited as a familial trait though the gene responsible which is yet to be identified. 

Is Mandibulofacial Dysostosis fatal? 
No, the disease is usually present in a mild form. Sometimes there is a complete absence of the eyelashes, which could be cosmetically uncomfortable.

Can Mandibulofacial Dysostosis be prevented?
If there is a family history of Mandibulofacial Dysostosis, genetic counseling before conception would prove useful.

What are the complications of Mandibulofacial Dysostosis?
There can be difficulty in speaking, chewing food, feeding. Visual problems and hearing loss are other complications. Breathing difficulties can occur in rare conditions when the nasal bones are small and underdeveloped.

(Do calcium supplements help in Mandibulofacial Dysostosis?
There is no evidence to indicate that calcium restores normal function although it has been tried in several forms.) 
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