Treacher Collin's Syndrome

Question 1

what is Treacher Collin’s Syndrome?

Answer 1

Abnormal formation of the 1st and 2nd branchial arches leading to profound facial dysmorphism
Underdeveloped facial bones

Question 1

treacher collin’s syndrome

Most cases caused by ??? mutations in the gene ? which encodes the protein ?
- Involved in ????

Other cases caused by mutation to genes ? and ? which encode the enzyme ??? and ?, important for ??

Answer 1

loss of function
TCOF1
Treacle
neural crest cell formation

POLR1D
POLR1C
RNA polymerase I
III
RNA synthesis

Question 2

facial features of Treacher Collin’s syndrome

Answer 2

Eyes that slant downwards -> vision issues

Spars eyelashes

Eyelid coloboma

Abnormally formed ears -> hearing issues

Question 3

treatments for treacher collin’s syndrome

Answer 3

Early intervention to clear & maintain airways, protect eyes, hearing and speech development

Later on aesthetic and functional reconstructions

Bone conduction hearing aids or middle ear surgery to improve hearing

Question 4

treacher collin’s syndrome typical phenotype