Contents:
- Medical Video: 10 Unusual Birth Defects
- What is Treacher Collins syndrome?
- What are the signs and symptoms of Treacher Collins syndrome?
- Causes of Treacher Collins syndrome
- How to treat Treacher Collins syndrome in children?
Medical Video: 10 Unusual Birth Defects
You may have heard of films Wonder or maybe you have watched it yourself in the cinema. This 2017 family film tells the story of a child named Auggie who has Treacher Collins syndrome, a rare birth defect that changes the shape of his face so he has to wear an astronaut's helmet so that it doesn't become a material for people to talk about. In the real world, one in 50,000 babies is born into the world with Treacher Collins syndrome.
What is Treacher Collins syndrome?
Treacher Collins Syndrome (TCS) is a rare medical condition caused by gene mutations that affects the development of the shape of the facial skeleton and skull.
This condition has many names such as mandibulofacial disostosis, Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia.
What are the signs and symptoms of Treacher Collins syndrome?
Symptoms of this syndrome usually vary in each child. Generally, babies born with TCS babies have the shape of ears, eyelids, cheekbones, and bone that are defective or not fully developed. Some TCS children have very small jaws and chin (micrognathia), as well as cleft lip.
Various signs and symptoms that usually appear like:
- The outer corner of the eye is tilting down.
- Eyelids droop.
- Cheekbones that are smaller than normal size.
- The number of teeth is less than the normal number.
- The skin grows in front of the ear.
- The earlobe is small or none at all.
- Hearing disorders.
- Breath disorders
- Difficulty sleeping and eating.
Some children may experience very mild symptoms, but others are quite severe. In severe cases, abnormal facial bones can block or close the baby's airway, causing life-threatening breathing problems. Children also usually experience problems with their teeth and eyes which can lead to infection.
Causes of Treacher Collins syndrome
TCS syndrome is caused by mutations in one of three genes that control the growth of bones and tissues around the face, namely TCOF1, POLR1C, and POLR1D. Mutations cause the process of bone formation and facial tissue not to run optimally while still in the womb, causing an abnormal face shape.
Quoted from Medical News Today, about 90-95% of TCS cases in the world are caused by mutations in the TCOF1 gene. This mutation usually occurs early in pregnancy so the baby's growth does not occur as it should. About 40% of children who experience TCS carry genes inherited from their parents while the remaining 60 percent do not have genes inherited from parents.
How to treat Treacher Collins syndrome in children?
Treatment for Treacher Collins syndrome will be adjusted to the symptoms that appear and the severity of the condition. The treatment strategy also involves not only pediatricians, but also the intervention of specialists or specialists such as skull and facial surgeons, ENT specialists, ophthalmologists, dentists, geneticists, and hearing specialists.
Treatment usually starts at birth. The reason is, babies born with TCS have difficulty breathing because of the narrow airways. Severe respiratory problems are usually aided by cutting the front of the neck skin which aims to make a hole so that it can insert a tube in the windpipe. This procedure is called a tracheostomy and is usually done in an emergency to open the airway.
In addition, babies with TCS also usually have problems eating so they need a feeding hose to the stomach that is placed in the nose.
To improve facial shape, the surgeon can suggest plastic surgery according to the specific problem and adjust to the age of the child. Generally, the recommended surgical procedure is:
- Cleft lip surgery is usually done at the age of 1 to 2 years.
- Cheek, jaw and eye surgery is usually done at ages 5 to 7 years.
- Ear surgery is done above the age of six.
- Repair of the jaw shape is done before a 16 year old child.
Children who grow up with this syndrome continue to need regular eye examinations to detect vision problems, eye movements, and corneal irritation problems because their eyelids cannot close completely. Doctors will also deal with hearing loss by pairing hearing aids and doing speech therapy.
