Mandibulofacial Dysostosis (Treacher Collins Syndrome): Symptoms, Causes and Treatment

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Mandibulofacial Dysostosis
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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.

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Symptoms

• 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
  include absence of teeth or 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.

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Symptoms
Continue

• 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.

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Treatments

• 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
  surgeries for 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
  surgeries are also indicated to correct severe
  orthodontic problems in adult life. The children
  with feeding and respiratory problems require
  immediate attention and may require surgical
  approaches to maintain the airway.

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