Symptoms, Causes, and Life Expectancy of Treacher Collins Syndrome
What is Treacher Collins Syndrome?
This is a disorder that causes a baby to be born with facial features that are deformed. When a baby has this syndrome it affects the soft tissue and bone development in their face and skull. This can lead to a baby having abnormally-shaped cheeks, jaws, ears, and eyelids. In some severe cases this syndrome can also cause constriction of their airway and impair their hearing. It is also known as mandibulofacial dysostosis and Treacher Collins-Franceschetti syndrome. It was first described in 1900 by the English physician and ophthalmologist it was named after. This syndrome is found in approximately one in fifty thousand births In 1949 David Klein and Adolphe Franceschetti described the condition. The other name for Treacher Collins Syndrome was named after Adolphe Franceschetti and he is the one who called it mandibulofacial dysostosis.
Most babies born with Treacher Collins syndrome will pass milestones in development such as beginning to walk and talk at the normal time. They will also be of normal intelligence. Their learning abilities may be hampered if they have problems with hearing. In order to develop speech and language most of the babies born with this syndrome will need speech therapy and help with hearing aids that are specialized. Because of the facial deformities they may have trouble breathing and eating along with vision and hearing problems.
The symptoms/characteristics of Treacher Collins syndrome will vary from one baby to another and can be barely noticeable to very severe and noticeable. Some of the babies who are born with this syndrome are also born with a cleft palate. This is an opening in the roof of their mouth. In some severe cases the facial bones that are not developed can restrict the baby’s airway and cause life-threatening respiratory problems. The symptoms of Treacher Collins syndrome is more characteristics of the disease than actual symptoms.
Some of the characteristics can include:
- Eyes that slant down
- Having few eyelashes
- Their lower eyelids are notched which is called a coloboma.
- Abnormalities of the eye can lead to vision loss
- Beak-looking nose that is large
- Small or obstructed nasal passages
- Underdevelopment or absent cheekbones and the side wall and floor of the eye socket.
- Having a lower jaw that is often small and slanting
- Having an unusual hairline with hair growing across their cheek like a sideburn
- Underdeveloped or malformed and/or prominent ears
- Having defects in their middle ear that can lead to loss of hearing
- Having missing or small thumbs in some cases
It is a rare inherited medical condition that is caused by a defective protein called the treacle. More than fifty percent of the cases of Treacher Collins syndrome are believed to be caused by a new gene mutation because there is no family history of anyone having this disorder in the family. The gene that is defective is on the number five chromosome, which is the chromosome that controls the development of the structures of neck and head and the bones. When the gene is defective in their bones in the facial area they will not develop correctly in the womb, causing the baby to be born with the characteristics of Treacher Collins syndrome.
Treacher Collins syndrome is dominantly inherited and is considered an autosomal dominant disorder. This means that if the baby will inherit the syndrome if one of the parents carries this gene and there is approximately a fifty percent chance of passing this disorder to their children. Most individuals who have Treacher Collins syndrome who have severe problems will have a parent who is mildly affected. It can also be the opposite where the baby is mildly affected and the parent is severely affected.
The obstetrician will normally be able to tell if the baby will be born with Treacher Collins syndrome by doing a routine ultrasound. If the baby has a mild case or there are no prominent deformities that the obstetrician can see the disorder will not be known until the baby is born. If the obstetrician notices during the ultrasound that the baby has characteristics of Treacher Collins syndrome they will have a CT (computerized tomography) done of the baby’s head in order to study the malformations.
When the baby is born the first treatment that is done is give immediate attention their airway and swallowing. If there are severe problems with the airway after birth the surgeon will usually do a tracheostomy, which will most like stay until surgery is done to allow the air to go thru the oral cavity or their jaw has grown sufficiently. For other major surgeries most physicians will wait unto the baby is older before they consider doing any further treatment. Around five years old there will be enough cartilage tissue that has developed around their ribs. The physician will graft pieces of this cartilage tissue onto the child’s deformed ears. Although they can graft bones to reform the cheeks and jaws surgeons prefer to wait until they are in their twenties to do this particular surgery. Over the course of their lives they may need to have plastic surgery and multiple bone grafts in order to completely correct their facial features.
Other treatments that may be done are:
- If the baby is born with swallowing problems they may use either gastrostomy or feeding tube in order to make sure that they baby is getting enough calories and staying hydrated.
- If they baby is born with severe hearing loss they will fit them with hearing airs as soon as it is possible because being able to hear is a very important part of communication.
- If the teeth are being overcrowded or other problems with their teeth and jaw they child will need dental work when they get older after their baby teeth have fallen out.
- If the baby is born with a cleft palate they will usually wait until the baby is between nine and twelve months old.
The life expectancy of a child born with Treacher Collins syndrome is the same as a baby born without this disability. Treacher Collins syndrome is not a life-threatening medical condition. If a child is born with respiratory problems and malformed jaw the baby may die.