Assignment III: Treacher Collins Syndrome Report and Analysis

This report provides an overview of Treacher Collins Syndrome (TCS), a disorder affecting the development of facial bones and soft tissues, leading to underdeveloped cheekbones and potential hearing loss. The report examines the geographic distribution of TCS, noting its global prevalence of approximately 1 in 40,000 to 1 in 70,000 live births, with variations across regions like the United States and the United Kingdom. It also explores the ethnic distribution, highlighting its prevalence in Han Chinese populations and specific instances in African ethnicities, as well as its concentration in certain regions of Spain. The report references several studies and figures to support its findings, providing a comprehensive summary of the syndrome's prevalence and distribution across different populations and geographical areas.

Treacher Collins
syndromeNAME OF THE STUDENT:
NAME OF THE UNIVERSITY:
AUTHOR NOTE:

Treacher Collins syndrome
 A disorder that touches the development
of bones and other soft tissue of the face
 Exhibit underdeveloped facial bones,
particularly the cheek bones and severe
hearing loss
 common management in this case include
surgery, regular physical monitoring
Figure: Treacher
Collins syndrome
source: (Vincent et
al 2018).

Geographic distribution
 Considering the world statistics, approximately 1 in
40,000 to 1 in 70,000 of live births experience Treacher
Collins syndrome(Www.bbc.com. 2020).
 In united states , 1 per 25,000 to 1 in 50,000 live births
around the globe (National (Organization for Rare Disorders
2020).
 In United Kingdom, 1 in 10,000 babies born with no
cheekbones and bone anchored hearing aid
 Few observed in Africa region
 A range of genes were identified in Spanish Regions which
can be considered as geographically concentrated in area
for the identified autosoma1 dominant malformation
syndromes
 disease depends on the geographical distribution since it
has a direct impact of mutation (Martínez‐Frías et al. 1991).

Figure: Treacher Collins
syndrome
source: (Vincent et al 2018).

Ethnicity
 Limited data as it is rare disease and very limited
studies were conducted on the ethnicity.
 It is highly prevalent in the Han Chinese ethnicity in
china and some parts of Asia (Chen et al., 2018).
 In Africa, two cases were reported from Hausa ethnicity
 Majority of the disease concentrated in two to three
ethnicity in the Spain since prevalence rate of 12.1 per
100,000 was observed in Spain (Martínez‐Frías et al.,
1991).
 the diseases frequency observed in few ethnicity of
India where the prevalence of this syndrome is 1 in
700 live births but it can vary with the parents'
Figure: Treacher Collins syndrome
source: (Martínez‐Frías et al. 1991).

References:
Chen, Y., Guo, L., Li, C.L., Shan, J., Xu, H.S., Li, J.Y., Sun, S., Hao, S.J., Jin, L., Chai, G. and Zhang, T.Y., 2018. Mutation screening of Chinese Treacher
Collins syndrome patients identified novel TCOF1 mutations. Molecular genetics and genomics, 293(2), pp.569-577.
Houben, C. H., Chan, K. W. E., Pang, K. Y. K., Feng, X. N., Mou, W. C. J., Tam, Y. H., and Lee, K. H. 2017. Descriptive Epidemiology of Anorectal
Malformations in Chinese Population. Journal of Neonatal Surgery, 6(4), 74.
Martínez‐Frías, M. L., Cereijo, A., Bermejo, E., López, M., Sánchez, M., and Gonzalo, C. 1991. Epidemiological aspects of Mendelian syndromes in a
Spanish population sample: I. Autosomal dominant malformation syndromes. American journal of medical genetics, 38(4), 622-625.
National Organization for Rare Disorders. 2020. Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). Retrieved 10
February 2020, from https://rarediseases.org/rare-diseases/treacher-collins-syndrome/
Vincent, M., Geneviève, D., Ostertag, A., Marlin, S., Lacombe, D., Martin-Coignard, D., Coubes, C., David, A., Lyonnet, S., Vilain, C. and Dieux-
Coeslier, A., 2016. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in medicine, 18(1),
pp.49-56.
Www.bbc.com. 2020. 'I hated my face in the mirror'. Retrieved 10 February 2020, from https://www.bbc.com/news/health-11780938