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Treacher Collins Syndrome pictures

Treacher-Collins syndrome is an autosomal dominant disorder present from birth. It features distinctive defects of the head and face. It is a very rare condition and is generally passed from one generation to of a family to another.

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Symptoms of Treacher-Collins

Individuals affected by Treacher-Collins may elicit different signs and symptoms as per the severity level of the condition.

Some of the signs and symptoms of Treacher-Collins are listed below:

  • Cleft Palate
  • A tiny and deformed jaw accompanied by a large mouth.
  • Eye abnormalities and vision disorders such as lower eyelids coloboma, lid lashes aplasia, thin or no eyelashes and palpebral fissures that are downward sloping and petite. Eye irregularities such as refractive faults may result in loss of vision
  • The presence of abnormal ears that are low-set, tiny and rotated. Sometimes the ears may be absent leading to conductive hearing loss
  • Dental anomalies such as tooth agenesis, uneven placement of teeth and defects of the tooth enamel. On rare occasions, malocclusion may form which may pose difficulties in closing one’s mouth or in feeding oneself. This can also result in speech problems as well as difficulties in communication
  • A Treacher-Collins patient may develop constricted or restrictive airway passage, which may result in breathing difficulties and even death
  • The skull may have an irregular or abnormal shape, including narrowing of the bitemporal region

There are other symptoms which are rare, such as:

  • Upper eyelid coloboma
  • Choanal atresia
  • Nasal deformities
  • Preauricular dislocation of hair or the growth of scalp hair till the cheeks
  • An extremely arched palate
  • Macrostomia
  • Hypertelorism of the eyes

Causes of Treacher-Collins

  • Mutation of TCOF1 gene results in the development of Treacher-Collins syndrome
  • Since Treacher-Collins has an autosomal-dominant trait, the condition is likely to be passed down by the parents to their children

Treatment of Treacher-Collins

The treatment for Treacher-Collins is aimed at treating the symptoms associated with the disorder. Some of the treatment methods are listed below:

  • Patients with eating difficulties may require tube-feeding
  • Infants affected by severe instances of Treacher-Collins may need a tracheostomy
  • Any loss of hearing can be treated with the use of hearing aids. This can aid the improvement of communication skills
  • Physical deformities like cleft palate, eye abnormalities, etc. can be corrected via surgery
  • Patients with facial deformities may require family support and psychological therapy to handle the emotional and social issues that result due to it
  • Dental abnormalities may be treated by dental reconstruction

Support groups for Treacher-Collins syndrome

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Treacher Collins syndrome pictures

Juliana Wetmore photos

Known as the girl born without face, Juliana Wetmore’s story is inspiration. The girl underwent multiple surgeries when she was just a baby. Even today she has to go for facial reconstruction surgeries. Her condition is fine, she is a bright kid and a fast learner.  She has a positive outlook in life and is is a thing of pride to her parents.

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