Mandibulofacial Dysostosis

Introduction of Mandibulofacial Dysostosis

Mandibulofacial Dysostosis is a disorder characterized by deformities of the facial

bones and skull. It is a rare type of syndrome which is inherited as an autosomal
dominant disease. The condition generally presents with a narrow face, small
lower jaw and lack of prominent cheek bones. The condition is present since birth
and may be associated with other anomalies involving the ears, eyelids, palate
and throat. The condition is chiefly associated with underdevelopment of facial
bone structure. It is also known as Treacher-Collins syndrome and Treacher CollinsFranceschetti syndrome .

Causes of Mandibulofacial Dysostosis

Mandibulofacial dysostosis is an inherited disease associated with a

genetic mutation. The disease has no specific predilection for any race and is
found affecting males and females equally. The gene mutation is caused by defect
in TCOF1 gene. Parents with mutated genes transmit the disease to their offspring.
The disease may be very mild or undiagnosed in the parent in some cases.
The disease occurs in around 1 of every 25,000 to 50,000 births. The disease shows
more severe symptoms in subsequent generations in a family suffering from
mandibulofacial dysostosis. The syndrome manifest at birth and can be diagnosed
by clinical symptoms,X-rays, ultrasounds and CT scans.

Symptom of Mandibulofacial Dysostosis

The severity of the symptoms of mandibulofacial dysostosis varies in different
patients. The characteristic facial structure is similar in most of the patients with
various degrees of deformity. The face is narrow at the lower third due to narrow
and small lower jaws. The chin is retruded with presence of a prominent notch. The
small size of jaws leads to orthodontic problems such as malocclusion.
Other dental problems includeabsence of teethor malformed tooth enamel. In
one-third of mandibulofacial dysostosis cases cleft palate is present. Absence of
salivary glands such as parotid glands may also be associated with the disease. A
notch like depression is present on the lower aspect of eyelids. The eyelashes are
scanty or absent in most of the cases. Loss of vision can occur in severe cases with
eye deformity. Defects in nasal bones may also be present.
Both inner and outer ears are deformed in mandibulofacial dysostosis. The pinnae
are deformed with or without extra ear tags. Defects in the inner ear can lead to
deafness. Presence of hypoplastic pharynx and narrowed wind pipe associated with
mandibulofacial dysostosis can be lethal in infants. The condition can lead to
difficulty in feeding and breathing.

Treatment of Mandibulofacial Dysostosis

Mild forms of mandibulofacial dysostosis may not require specific treatment except
for correction of dental problems and improvement of overall deformed structures.
In cases with moderate to severe deformities surgical approaches are preferred to
restore the aesthetics.Cosmetic surgeriesfor facial reconstruction are advised
in severely deformed cases. Various surgeries involving eyes, cheek bone, jaws
can be performed at specific ages when the bones fully develop.
Cases with cleft palate should be treated with separate surgical procedure at an
early age for closure of the cleft.Orthognathic surgeriesare also indicated to
correct severe orthodontic problems in adult life. The children with feeding
andrespiratory problemsrequire immediate attention and may require surgical
approaches to maintain the airway.