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
- 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
- Cleft palate
- 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.