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Treacher Collins Syndrome

Group project about Rare Disease

Alex Wallace

on 4 February 2013

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Transcript of Treacher Collins Syndrome

Treacher Collins Syndrome A deeper look into a rare disorder What is Treacher Collins Syndrome How Common ? The Cause:
Following the Genetic Mutation Symptoms:
How the disease is expressed Research Complications - “Mandibulofacial dysostosis”

- A craniofacial birth defect

-Hereditary rare disease that affects the structure of the face

-An autosomal dominant condition 1 in 50,000 people inherit this
rare autosomal dominant congenital disorder!!!!! Gene Mutation accounts for 81 to 93% of all known cases


* These are the genes that have been detected in patients with TCS. This Disease is expressed in a number of physical features mainly centered on and around the facial area. New Methods of treating the physical deformities.
Pinpointed the cause of Treacher Collins syndrome as a problem with a gene on chromosome 5, 6 and 13. There are several complications that can arise as a result of TCS
1. Vision loss
2. Hearing loss
3. Eating Difficulty
4. Speech problems
5. Respiratory Problems This picture above is of an infant born with Treacher Collins Syndrome and had to receive a tracheostomy tube for support due to complications Treatment How Do You Test For Treacher Collin's Syndrome A Closer Look **Relies specifically on clinical and radiographic testing.
If there is a mutation in one of three genes ;
TCOF1 (78%-93% of individuals with

POLR1D and POLR1C(8%). The TCOF1 http://www.brighthub.com/science/genetics/articles/70707.aspx Treacher Collins-Franceschetti Syndrome 1
The gene that codes for the TreacleProtein.
Sequence Analysis
Deletion/Duplication Analysis TCOF1 POLR1D and POLR1C Polymerase (RNA) I polypeptide D

Polymerase (RNA) I polypeptide C

Both are protein coding genes that are vital in the synthesis of rRNA precursors. POLR1C
30 kDa POLR1D
16kDa Cannot be cured.
Treat symptoms:
Hearing Aids
Reconstructive surgeries
Dental Work Why FUND us?????? Autologous Fat Transplantation This procedure aids in the rebuilding of the facial structure.

Helps correct soft tissue deficiency.

On Average Helped Improve Facial Symmetry Preemptive Treatment A study has shown that TCS adults have a positive attitude toward prenatal genetic testing. A Success Story REMEMBER TO.......
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