Treacher Collins syndrome; Cause, Characteristics Features and Management

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Treacher Collins syndrome also called Dysostosis mandibulo-facial; Franceschetti-Klein syndrome. 

Incidence of Treacher Collins syndrome

The number of people suffering from this syndrome is not known. A number of families with this disease, throughout several generations, have been described and researched.

History

 In 1933, Dr Treacher Collins first described people with the particular characteristics seen in this syndrome.  

Causation

 This syndrome is an autosomal dominant disease.There is a high rate of mutations associated with this syndrome. 

This syndrome has been successfully diagnosed antenatally using fetoscopic methods. The specific characteristics have also been seen on ultrasonic screening. 

Characteristics Features of Treacher Collins syndrome

Treacher-Collins-syndrome

The abnormalities seen in the Treacher Collins syndrome solely affect the face and associated anatomical structures. 

  • The bones of the cheeks (maxillae) are small and under-developed,especially malar bone.
  • The lower jaw can also be small, giving the appearance of a bird’s face or fish face. This feature can lead to problems with respiration and feeding during the early days of life.  
  • During the relaxation of muscles during sleep,under-developed mandibular jaw can drop back. This allows the child’s tongue to fall back into his/her throat and effectively obstruct breathing.This is especially dangerous if the baby is put to sleep on his/her back.
  • (The safest position for these children is on their sides)
  • The safest position for these babies is on their sides (antimongoloid slant).
  • The lower eyelids may have a small gap, in their length (coloboma).
  • Eyelashes may be absent on the nasal side of this feature.
  • Ears can be small and malformed. The internal parts of the ears, including the external auditory canal and the middle ear can also be abnormally developed. 
  • Occasionally the baby with Treacher Collins syndrome may be born with a cleft palate.
  • A heart defect has also occasionally been found with this syndrome. 
  • Due to the abnormalities possible both in upper and lower jaws, there may be problems with proper eruption of teeth at a later date.

Management of Treacher Collins syndrome:

  • Early breathing and feeding difficulties: If specific abnormalities are severe, will need skilled specialized attention. Nasogastric feeding may be necessary if sucking is impossible in the first few weeks of life. A temporary tracheostomy may be necessary in the most severely affected children. 
  • Cleft palate: Surgery may be needed to repair a cleft palate if this is present.
  • Deafness:The most important aspect of care for the child with the Treacher Collins syndrome is the early diagnosis of any conductive deafness that may arise due to the abnormalities in the auditory system.   
  • Hearing aids may be necessary from an early age, and this help with hearing will ensure that development is not delayed in other fields. 
  • Dental Treatment:Orthodontic help may be required later on in childhood if teeth erupt irregularly.

Conclusion:

Life expectancy is normal. A normal career choice is open to the child with Treacher Collins syndrome with the: exception of deafness being a possible limiting factor for some careers.  

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