What is Treacher Collins Syndrome

Treacher Collins Syndrome is a rare genetic disorder diagnosed in 1 in 10,000 births. This disorder is characterized by major changes in the shapes of body parts. When changes take place in the chemical structure of a gene called TCOF1 gene, this disorder is caused. This gene is responsible for giving proper structures to the head and face of baby inside a mother’s womb. This article tries to gain further insight on this topic.

Symptoms of Treacher Collins Syndrome: These signs appear in varying degrees from being severe to almost unnoticeable.

  • Antimongoloid slanting palpebral fissures
  • Malformed auricles
  • Visual loss
  • Malar hypoplasia
  • Anisometropia
  • Mandibular hypoplasia
  • Lower lid coloboma
  • Flattening of malar bones
  • External ear canal defect
  • Partial absence of lower eyelashes
  • Total absence of lower eyelashes
  • Conductive deafness
  • Drooping eyelids
  • Strabismus
  • Cleft palate
  • Amblyopia
  • Incompetent soft palate
  • Narrow airway
  • Projection of scalp hair onto lateral cheek
  • Congenital heart disease

Facts on Treacher Collins Syndrome:

  • It is an autosomal disorder which means that one copy of the altered gene in each cell is enough to cause this disorder.
  • In 60 percent of the cases diagnosed, it is found that the structure of the gene TCOF1 changes each time.
  • The condition can be inherited from one generation to another though in more than 50 percent of the cases their is no family history.
  • Speaking difficulty, feeding difficulty, vision problems and communication problems are the complications of this condition.
  • Operation done on the face can improve appearance, treat cleft palate and impaired hearing.
  • Techniques like rotational flaps and skin grafts can correct larger defects.
  • Receding chin problem can treated by plastic surgery.
  • Genetic counselling can increase the awareness about the disease in parents and help them to take better care of the affected child.
  • Intelligence is not hampered by this disorder as most of the patients have normal mental capabilities.
  • Children suffering from this disease grow up as normally functioning adults.

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