Mandibulofacial Dysostosis (Treacher Collins Syndrome): Symptoms, Causes and Treatment (1) - PowerPoint PPT Presentation

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Mandibulofacial Dysostosis (Treacher Collins Syndrome): Symptoms, Causes and Treatment (1)


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. – PowerPoint PPT presentation

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Title: Mandibulofacial Dysostosis (Treacher Collins Syndrome): Symptoms, Causes and Treatment (1)

Mandibulofacial Dysostosis
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.

  • 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.

  • Loss of vision can occur in severe cases with
    eye deformity. Defects in nasal bones may also be
  • 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.

  • 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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