Treacher Collins Syndrome

Question 1

Describe treacher collins syndrome

Answer 1

• Underdeveloped facial bones (particularly cheeks bones)
• Eye sockets
• Chin and ears
• Eyelid colomboma
• Cleft Palate
  ( Eye stand downwards, sparse eyelashes, absent small or abnormal ears)

Question 2

When does it occur?

Answer 2

Develops in the first 5-8 weeks of pregnancy due to abnormal formation of the 1st and 2nd branchial arches

Question 3

Describe the mutation

Answer 3

the mutations which cause this are autosomal (non-sex chromosomes) and are mostly deletions (can be genetic or spontaneous)

Question 4

What are the genes that cause this syndrome?

Answer 4

1) TCOF1 gene which encodes the ‘Treacle’ protein

results in a reduced number of neural crest cells migrating into the developing craniofacial complex

2) POLR1C (autosomal recessive) and POLR1D (autosomal dominant) genes which are important in RNA synthesis

Question 5

What are the main concern?

Answer 5

• Respiratory failure
• Treated early to clear and maintain the airway and enabling feeding