About TCS

Treacher Collins Syndrome is also known as mandibulofacial dysostosis.  TCS is a genetic birth defect that affects the facial features, brain, and cranium of those born with it.  The growth of bones and tissues in the face is unnatural as well.

Getting TCS

TCS is autosomal dominant.  This means, if when inherited, you get even one defective gene, you will get the disease.  Someone with this disease has a 50% chance of passing it on to their children.  Approximately one in 50,000 babies is born with it.  The other way of getting TCS, which happens in nearly 60% of cases, is a mutation in the TCOF1 gene.  This gene “provides instructions for making a protein called treacle. (Genetics Home Reference)” It is believed that, without this protein, bones in your face will self-destruct causing the facial abnormalities found in TCS.  This happens to those with no family history of TCS.

The Influence of TCS

Men and women are both equally affect by TCS.  When you have TCS, some of your facial features are disoriented.  Most will have downward slanting eyes, a smaller jaw, and malformed or missing ears.  Some are even born with a cleft palate, and in the worst cases, a restricted airway, causing breathing problems.  These malformations cause certain problems, including hearing, eating, vision, and breathing.  One thing that is not a result of TCS is intelligence.  Victims are still able to learn as well as any child without TCS.  A few potential complications can occur.  They include vision and communication troubles and feeding and speaking obscurity.

Treatment of TCS

Most TCS victims are born deaf.  Bone conduction hearing aids are used to allow them to have the ability to hear.  This device is usually worn as a headband.  Another option, to repair facial defects, is plastic surgery.  Other than that, you would have to change the DNA in every cell in the body if you wanted to cure TCS.  That is why we need your help, to find some way to treat TCS.

Early Detection

Since TCS is dominant, you will know if you have it, and there is no way that you could be a carrier.  Unless you have a recessive gene as well, you will pass it on to your child.  The only way to prevent your child from getting it is to not have children.  There is no form of early detection for TCS because you are born with it.  If you are examined for TCS, things that might prove you have the disease include “

·         Abnormal eye shape

·         Flat cheekbones

·         Facial clefts

·         Small jaw

·         Low set ears (or missing/deformed ears)

·         Abnormal ear canal

·         Conductive hearing loss

·         Defects in the eye (coloboma)

·         Decreased eyelashes (MedlinePlus Medical Encyclopedia)”

The intensity of these factors varies with each case, and they can be so minimal that you don’t realize you have it until your child gets it.  With most cases, you will be able to see these abnormalties at birth.  If you are concerned you have it, or you child might get it, genetic counseling is always a good thing to look into.

Websites used:

Genetics Home Reference http://ghr.nlm.nih.gov/condition=treachercollinssyndrome

MedlinePlus Medical Encyclopedia http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm

TCS Genetics http://www.treachercollins.co.uk/gene/genes.htm

Reflections of Treacher Collins Syndrome http://www.treachercollins.org/main.html

UC Davis Children’s Hospital http://www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/treacher.html