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Treacher Collins syndrome (TCS) is a genetic condition which is also known as Mandibulofacial Dysotosis. This genetic condition that is characterized by craniofacial abnormalities; in this the person has underdeveloped facial features, with poorly developed cheekbones and jawbones. The term came into existence from the name of Dr. Edward Treacher Collins, the ophthalmologist who first studied these conditions

Causes of Treacher Collins Syndrome

Treacher Collins syndrome is passed through the genes in the form of an autosomal-dominant pattern, which means this disease can be passed on to the child even if one of the parents has this gene problem. Parents actually do not come to know that they have this problem until they give birth to a child who suffers from Treacher Collins Syndrome. In this case, the parent has a mild form of TCS which is not diagnosed as such.

Treacher Collins syndrome has nothing to do with the mother not taking care of herself during pregnancy or any injury, this disorder is mainly related to genetic mutation.

 

Mutations in the treacle gene, or TCOF1, cause Treacher Collins Syndrome. Most parts of these mutations involve deletions and insertions. Simply speaking, one needs two copies of normal genes, one from the mother and the other from the father for proper functioning. If due to mutation, one gen is not able to function as desired, it becomes a genetic abnormality in the body of the baby.

 

Symptoms of Treacher Collins Syndrome

The symptoms can vary from person to person. Some of them are:

• Cleft palate

• Poorly developed jawline and cheek bones

• Low eyelids

• Malformed ears which can also cause hearing problems. In some cases, the outer ear or the pinna can be absent]

• Eye problems, poorly shaped eyes and loss of vision

• Breathing problems as the tongue is in close proximity to the throat area and jaws are not developed properly.

• The person is not able to eat properly due to ill-formed mouth and jaws.

 

Treacher Collins Syndrome complications

• Inability to speak properly

• Communication issues

• Not able to see properly

• The child finds it difficult to eat and drink

 

Treacher Collins Syndrome Treatment

Since this is a genetically inherited condition, Treacher Collins syndrome cannot be cured and the treatment can depend on how the doctors approach each case, and try their best in repair the malformed parts of the face and throat area. The treatment procedures are mostly into correcting the head and face abnormalities, cheek repair, cleft palate surgery, sugery for underdeveloped jaws, ear reconstruction, nose repair, eyelid reconstruction, dental treatment and speech therapy.

There is a need for specialized doctors who are adept at craniofacial surgery to restore the child’s face and head deformities. Genetic counseling can also help in the parents to approach this problem in a better manner.

 

Teacher Collins Syndrome- Juliana Wetmore

Julian Wetmore was born as the girl without face, she was suffering from Treacher Collins Syndrome. Though the syndrome itself is uncommon, the case of Juliana Wetmore was indeed quite rare with almost 40 percent of facial bones missing. The girl was born on March 2003 and the parents were saddened to know that what they thought as cleft palate was actually Treacher Collins Syndrome.

Juliana Wetmore had to go through plastic surgery for her left eye and nasal passage at a tender age. She was treated at the Shands Jacksonville Medical Center. The first major surgery was when the girl was just five days old, a trach tube and feeding tube was inserted through the oral cavity. A bone conduction hearing aid was also fitted,

 

Dr S. Anthony Wolfe, Chief of plastic and reconstructive surgery stated that Juliana’s case was attributed to Treacher Collins gene and another abnormal gene which augmented the consequence. These genes had a negative effect on the embryo development, possibly during the intra-utero, stage. Juliana’s first surgery was when she was just 5 days old, when a feeding tube and a trach tube were inserted in her. In the first two and a half years of her life, Juliana Wetmore had many multiple surgeries done on her.

Juliana Wetmore has had more than 21 operations done so far, including major intracranial procedures. Her parents would like Juliana to take her call about cosmetic surgeries but the ones that she is undergoing now is reconstructive, mainly to help her lead a good life and function without the need of a trach or feeding tube.

Juliana Wetmore, all of 8 years of age, is now in her 3rd grade. She is a good student, given her condition and likes to be as independent as possible. Juliana’s next surgery is on September 28 where she will have a better hearing aide implant and will also have her cheek in better shape, through an invasive surgery, which family and friends believe should go fine.

 

Treacher Collins Syndrome-Juliana Pictures-2011 and childhood





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