treacher collins syndrome by mason G by MASON GOLDBLATT https://padlet.com/masongoldblatt2025/xlgpu9la42be this is a rare genetic disorder. en-us 2020-04-05 19:07:41 UTC 2025-05-06 15:44:02 UTC hello@padlet.com What phenotypes does the genetic disorder show masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493600390  affected people have various phenotypes, and additional characteristic features include downward slanting eye slits (palpebral fissures), eyelid clefts (coloboma), malformed (choanal atresia) or absent nose (anotia) and conductive hearing loss.]]> 2020-04-05 19:08:51 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493600390 What other organ systems are affected and how? masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493602472 this disorder tends to affect bones and tissues which can cause minor or fatal anomalies within the body.]]> 2020-04-05 19:10:49 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493602472 Determine the cause of the disorder masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493603712 this is a rare genetic disorder that is caused at birth.]]> 2020-04-05 19:11:46 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493603712 What type of mutation causes this genetic disorder? masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493604442
  •  Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases.

    • ]]>     2020-04-05 19:12:29 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493604442     What is the rate of occurrence with the genetic disorder? masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605084 The occurrence of this is about 1-40,000 or 1-70,000 for most cases]]> 2020-04-05 19:13:04 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605084 What famous (or well known) people have the disorder? masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605503 Jono Lancaster is someone who inspires people who have this disorder to keep moving forward and to love yourself]]> 2020-04-05 19:13:28 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605503 image of what this looks like. masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605905 2020-04-05 19:13:50 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493605905 bibliography masongoldblatt2025 https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493609570 https://rarediseases.org/rare-diseases/treacher-collins-syndrome/  https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome  https://emedicine.medscape.com/article/946143-overview]]> 2020-04-05 19:17:08 UTC https://padlet.com/masongoldblatt2025/xlgpu9la42be/wish/493609570