Treacher Collins syndrome (facial birth defects)

Genesis Rangel
Introduction to Special Education 203
Research Paper
Thursday, April 6, 2016

ThediseaseIwasassignedwasTreacherCollinsSyndrome(facialbirthdefects),
alsoknownas,mandibulofacialdysostosis.Thissyndromeisabirthdefectthathappens
whenbonesinthefaceandjawdonotformproperlyduringfetaldevelopment.This
syndromeaffectsthefacialdevelopmentinthegeneonchromosome5.TreacherCollins
Syndromeaffectstheshapeoftheface,facialfeaturesandears;thisdisordercancause
problemswithfeeding,breathing,hearing,andevenvision.Normallygenemutationsare
thecauseofthissyndrome,whichbasicallymeansthatthissyndromeiseitherinherited
fromtheirparentsormutationhappensduringfetaldevelopment.Therearenewstudies
beingdonetoseeaboutthepossibilitiesoftherebeingothergenesthatcouldbeinvolved
withthissyndrome.
TreacherCollinssyndromecanbedetectedbeforethebabyisbornduringan
ultrasound.Youcanbesurelydiagnosedforthissyndromephysicallyexaminingyour
babyoncetheyareborn.Youmayalsodoanxrayoftheheadorfaceinordertocheck
forabnormalfacialdevelopment,aswellas,diagnosticimaging.Diagnosticimagingcan
includebutisnotlimitedtoCTscans,toexaminethehead,face,jaw,middleear,andear
canal.
Therearemanycharacteristicsthatmaybecommonsymptomswithinthe
children.Someinwhichtheymaydiffergreatly,frombarelynoticeabletoextremely
severe.Thisincludesbutisnotlimitedtoo,verysmall,flatormissingcheekbones,down
slantingeyes,notchedlowereyelids,verysmalllowerjawandrecedingchin,notched
lowereyelids(inwhichtheymaysometimesnothaveeyelashes),lowset,misshaped,or
missingears,hearinglossbecauseofdefectsinthemiddleearorearcanal,difficulty

breathingbecauseofblockageinthenasalairway(thusincludingsleepapnea),cleftplate
(openingintheroofofthemouth),anddifficultfeedingandswallowingbecauseofcleft
palateandjawproblems.
Thereisnoexacttreatmentforthissyndrome.Sincethissyndromeissomething
thechildrenarebornwith,thetreatmentsfocusonrelievingorcorrectingthevarious
symptoms.Surgeryoccursinstagesthroughoutchildhood,ofcoursethisisnotdone
withouttakinginconsiderationthechildsconditionandrateofgrowth.Dependingon
theseverityoftheTreacherCollins,thechildmayneedsomeoralloftheprocedures.
Thesesurgeriesmayincludebutornotlimitedtoaconductivehearingaid,correctionof
thecleftpalate,repairofcheekbones,repairofeyelidnotches,correctionofthe
undevelopedjawandchin,andreconstructionofears.
Newadvancesareconstantlybeingdeveloped.Thereisaproteinknownasp53
thatresearchersareexploringwaystoinhibitit.Thisproteinhelpsthebodykilloff
unwantedcells.Moreresearchisnecessarytodeterminethelongtermsafetyand
effectiveness.Therearealsootherresearchersstudyingtheuseofstemcellsfoundinfat
tissueasanadjuncttherapytosurgery.Althoughtheseresultshaveshownthatsurgical
outcomesmaybeimproved,thistherapyisexperimentalandcontroversial,andrequired
moreresearchtodetermineitsviabilityasapotentialtherapy.

Resources
Treacher Collins Syndrome (n.d.). In FACES. Retrieved April 5, 2016, from google.com.
Pediatric Treacher Collins Syndrome (n.d.). In Childrens National. Retrieved April 5,
2016, from google.com.