Treacher collins syndrome: causes, symptoms and treatment

At the time of delivery of your newborn, your near and dear ones will be awaiting in anticipation for hale and hearty baby. But after a brief moment, you are dumbstruck. The baby’s is born with abnormal facial features with malformation of his jaws and cleft.

Well, this rare genetic disorder is termed as ‘Treacher Collins Syndrome’, frequently common in nearly one in 20000 live births in the United States alone. It mostly occurs in babies. The main characteristics are facial disfigurement and hearing loss, which occurs due to poor development of certain parts of the skull.

It was named after Dr Edward Treacher Collins, who discovered the peculiarity of the syndrome in 1900.

CAUSES

Treacher Collins syndrome is an autosomal dominant disease. This means that the gene is transmitted from parent to child in most of the cases with or without family history. It is caused by transmutation of defective TCOF1 gene called ‘treacle’. This protein is responsible for embryonic development. The severity of the disease varies from generation to generation.Результат пошуку зображень за запитом "Treacher collins syndrome"

SYMTPOMS

Treacher Collins Syndrome is described as a cranio-facial condition. There is poor development of the head and face. They vary greatly from patient to patient.

The following are the list of deformities with reference to facial bones:

  • The overall head size may be smaller than the normal
  • The external corners of the eyes may droop slantingly
  • The bridge of the nose is wide
  • Malformation of cheekbones, giving it a flat like appearance
  • The lower jaw and chin are small. The jawbone points downward towards the neck instead of being perpendicular.
  • The size of the mouth is large
  • Cleft palate (opening in the roof of the mouth)
  • Scalp hair extends onto cheeks

In severe cases, due to poor development of facial bones, an infant may suffer from life-threatening respiratory difficulties.

EAR ABNORMALITIES: This is the most common symptom of Treacher Collins Syndrome. The ear lobes may be small, deformed or absent. Due to which hearing loss is the most common sign. This is due to abnormalities in the middle ear structures.

TREATMENT

The treatment available for Treacher Collins Syndrome may vary according to the symptoms.

Newborn babies suffering from respiratory symptoms due to Treacher Collins Syndrome may require a ventilator, tracheotomy or feeding tube.

A cleft palate is corrected through surgery. While ear abnormalities, hearing aids can reduce the symptoms.

Majority of the Treacher Collins Syndrome patients may require cosmetic as well as plastic surgery. They help to build up the facial bones. Bones graft is the next option to correct malformed cheekbones. Ears can be restructured using cartilage from the ribcage.

This reconstruction of the facial and ear muscles may require multiple surgeries at different ages. This reconstruction may require multiple surgeries at different ages. Surgeries are planned and timed in accordance with facial growth of the bones, emotional needs and maturity level of the patient.

 

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