4/5/2015

AchondroplasiaTreatment&Management

AchondroplasiaTreatment&Management
Author:ShitalParikh,MDChiefEditor:DennisPGrogan,MDmore...
Updated:May2,2014

MedicalCare
Theavailabilityofsomatotropin(recombinanthumangrowthhormone)hasrevolutionizedthetreatmentofshort
stature. [25]Growthhormoneiscurrentlybeingusedtoaugmenttheheightofpatientswithachondroplasia.The
greatestaccelerationingrowthvelocityisseenduringthefirstyearoftreatmentandinthosewiththelowestgrowth
velocitiesbeforetreatment.However,nolongtermstudiesexisttodeterminefinalheight,nordoanyrandomized
controlledstudiesexisttojustifyprolongedtreatmentwithgrowthhormoneinpatientswithshortstature.Ayoung
ageatinitiationoftherapy(16y)isrecommendedformaximumbenefits.

SurgicalCare
Mostoftheorthopedicproblemsencounteredinpatientswithachondroplasiaarerelatedtothespine.Craniocervical
stenosis,thoracolumbarkyphosis,spinalstenosis,angulardeformitiesofthelowerextremities,andlengtheningof
theshortextremitiesaretheorthopedicproblemscommonlyaddressedinachondroplasia. [1,26,27,28,29,30,31,32,
33,34,35]

Spinalcanalstenosis
Wide,multilevellaminectomiesextendingtothepediclesandlateralrecesseswithforaminotomies
maybenecessary.Extraduralremovalofherniateddiscmaterialisperformedasnecessary. [33]The
lengthofdecompressionusuallyextendsfromthelowerthoracicspinetothesacrumtoprevent
recurrence.Maintainingtheintegrityoffacetjointsisnecessarytopreventpostlaminectomyinstability.
Ifinstabilitydoesoccur,anteriorfusionmaybenecessary.
Theextentofthelaminectomiesisimportanttoobtainsuccessfulresults.Itshouldbe3levels
cephaladtotheproximalextentofcompression,distaltothesecondsacrallevel,andlateraltothe
facetjoints.Theresultsofthismoreextensiveapproachareencouraging.
Thoracolumbarkyphosis
Treatmentofthoracolumbarkyphosisconsistsofmereobservationforthechildwhohasnotbegunto
walkbecausespontaneousresolutionfrequentlyoccurs.Reportsexistthatdemonstratetheefficacyof
earlyprohibitionofunsupportedsitting. [12]
Ifwedgingoftheapicalvertebrapersistsafterindependentambulation(typicallywedgingof12th
thoracicor1stlumbarvertebra),anextensiontypethoracolumbosacralorthosisshouldbeused.
Ifthethoracolumbarkyphosispersistsandmeasuresgreaterthan30atage5years,thensurgery
shouldbeperformed.Surgeryisusuallyintheformofcombinedanteriorandposteriorfusion.
Posteriorinstrumentationgenerallyisnotrecommended,duetothenarrowcanalsize.Any
instrumentationplacedinthecanal,suchashooksorsublaminarwires,iscontraindicatedduetothe
markedstenosisanddecreasedsubarachnoidfluidspace.
Ifkyphosisisassociatedwithaneurologicdeficitsuchasparaplegia,laminectomyaloneisnot
indicatedbecauseitcandestabilizethespinefurther.Treatmentshouldconsistofanteriorcord
decompressionwithstrutgraftingandposteriorfusion.
Genuvarum[36]
Surgicalcorrectionofgenuvarummayberequired.Itmaybeintheformofproximaltibiofibular
osteotomyorproximalanddistalfibularepiphysiodesis.
Osteotomyisperformedwhenrapidcorrectionofsymptomaticdeformityisrequired.Itcanbe
performedthroughsmallincisionswithoutinternalfixation,withlonglegcastimmobilizationfor6
weeks.
Limblengthening[29,30,31,32,37,38]
LimblengtheningoftheupperandlowerextremitiesispromotedinEurope.However,theLittle
PeopleofAmerica(LPA)andDwarfAthleticAssociationofAmerica(DAAA)aregenerallyopposedto
theseprocedures(seePatientEducation,below).Iflengtheningistobeperformed,anyexisting
angulardeformitiesshouldbecorrectedsimultaneously.Withthecurrenttechniquesofdistraction
osteogenesis,30cmoflengthcanbegained.Graduallengtheningoftheosteotomycallous
(callostasis)orthroughtheepiphysealplates(chondrodiastasis)canbeobtainedusingmonolateral
framesorIlizarovringfixators. [26,39]The6segmentlengthening(femur,tibia,humerus)canbe
performedasstagedproceduresinvarioussequences.
Apotentialexistsformajorcomplicationsduring6segmentlengthening.Neurologicinjuryhasbeen
reportedin35%ofprocedures.Footdrop,vascularcompromise,softtissuecontractures,lossof
motion,kneesubluxation,infection,psychologicalchanges,anddeathhavebeenreportedwith
extensivelengtheningprocedures.
Foramenmagnumdecompression(neurosurgery)
Narrowingoftheforamenmagnummayresultinavarietyofneurologicproblemsinthefirstseveral
yearsoflife.Significantimprovementofsevereneurologicsymptomshasbeenreportedwithforamen
magnumdecompressionandC1laminectomy.However,prophylacticsurgeryisnotrecommended.
Ventriculoperitonealshuntsareindicatedforpatientswithrapidlyprogressiveheadenlargement,
increasedintracranialpressures,orneurologicsignsandsymptoms.Neurosurgeryisalsoindicatedfor
otherneurologicabnormalities,suchasChiarimalformation.

Consultations
Orthodontist:Maxillaryhypoplasialeadstodentalcrowdingandmalocclusion,oftenrequiringorthodontic
treatment.
Speechtherapist:Thoughmostofthespeechproblemsresolvebythetimepatientsareofschoolage,
childrenwithpersistentproblemsshouldbereferredtoaspeechtherapist.
Otolaryngologist:Earlyrecognitionandtreatmentofchronicotitismediaisrequiredtopreventhearingloss.
Relativehypertrophyoftonsilsandadenoidsduetomidfacehypoplasiamayrequiretreatment.An
otolaryngologistmaybeinvolvedinthetreatmentofsleepapneasyndrometonsillectomy,adenoidectomy,
and,rarely,tracheostomyaretheproceduresperformed.
Geneticist:Aclinicalgeneticistmaybeofhelpbyprovidingcounselingtothefamily.Ageneticistalsomay
beavaluableresourceforthepediatricianseekingadditionalinformationorconsultation.Theproper
establishmentofthemodeofinheritancenotonlyaidsingeneticcounselingbutalsoenablestheorthopedist
todistinguishachondroplasticdwarfismfromotherformsofdwarfism,manyofwhichhaveanautosomal

http://emedicine.medscape.com/article/1258401treatment#aw2aab6b6b2

1/4

4/5/2015

AchondroplasiaTreatment&Management

recessiveinheritance.
Pulmonologist:Pulmonaryfunctionshouldbeevaluated,andrespiratorycomplicationssuchasapnea,
pneumonia,andcyanosisshouldbeavoided.
Pediatrician:TheAmericanAcademyofPediatricsCommitteeonGeneticshasissuedguidelinestoassist
thepediatricianincaringforchildrenwithachondroplasiaandtheirfamilies. [40]Occasionally,thepediatrician
iscalledontoadvisepregnantwomenwhohavebeeninformedofaprenataldiagnosisofachondroplasia.

Diet
Nutritionalcounseling:Obesityisalifelongissue,anddietarytherapyshouldbeinitiatedearlyinlife.

ContributorInformationandDisclosures
Author
ShitalParikh,MDAssociateProfessor,DepartmentofPediatricOrthopedicSurgery,CincinnatiChildren's
HospitalMedicalCenter
ShitalParikh,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofOrthopaedicSurgeons,
AmericanMedicalAssociation,andOrthopaedicResearchSociety
Disclosure:Nothingtodisclose.
Coauthor(s)
PreetiBatra,MBBS,MDStaffPhysician,DepartmentofRadiology,VSHospital,India
Disclosure:Nothingtodisclose.
SpecialtyEditorBoard
MininderSKocher,MD,MPHAssociateProfessorofOrthopedicSurgery,HarvardMedicalSchool/Harvard
SchoolofPublicHealthAssociateDirector,DivisionofSportsMedicine,DepartmentofOrthopedicSurgery,
Children'sHospitalBoston
MininderSKocher,MD,MPHisamemberofthefollowingmedicalsocieties:AmericanAcademyof
OrthopaedicSurgeons,AmericanAssociationfortheHistoryofMedicine,AmericanCollegeofSportsMedicine,
AmericanOrthopaedicSocietyforSportsMedicine,MassachusettsMedicalSociety,andPediatricOrthopaedic
SocietyofNorthAmerica
Disclosure:Smith&NephewEndoscopyConsultingfeeConsultingEBIBiometConsultingfeeConsulting
OrthoPediatricsConsultingfeeConsultingPivotMedicalStockConsultingpedipedConsultingfeeConsulting
WBSaundersRoyaltyNoneFixes4KidsConsulting
FranciscoTalavera,PharmD,PhDAdjunctAssistantProfessor,UniversityofNebraskaMedicalCenter
CollegeofPharmacyEditorinChief,MedscapeDrugReference
Disclosure:MedscapeSalaryEmployment
GeorgeHThompson,MDDirectorofPediatricOrthopedicSurgery,RainbowBabiesandChildren'sHospital,
UniversityHospitalsCaseMedicalCenter,andMetroHealthMedicalCenterProfessorofOrthopedicSurgeryand
Pediatrics,CaseWesternReserveUniversitySchoolofMedicine
GeorgeHThompson,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofOrthopaedic
Surgeons,AmericanOrthopaedicAssociation,PediatricOrthopaedicSocietyofNorthAmerica,andScoliosis
ResearchSociety
Disclosure:OrthoPediatricsNoneConsultingJournalofPediatricOrthopaedicsSalaryManagementposition
SpineFormNoneConsultingSICOTNoneBoardmembership
DineshPatel,MD,FACSAssociateClinicalProfessorofOrthopedicSurgery,HarvardMedicalSchoolChiefof
ArthroscopicSurgery,DepartmentofOrthopedicSurgery,MassachusettsGeneralHospital
DineshPatel,MD,FACSisamemberofthefollowingmedicalsocieties:AmericanAcademyofOrthopaedic
Surgeons
Disclosure:Nothingtodisclose.
ChiefEditor
DennisPGrogan,MDClinicalProfessor(Retired),DepartmentofOrthopedicSurgery,UniversityofSouth
FloridaCollegeofMedicineOrthopedicSurgeon,DepartmentofOrthopedicSurgery,ShrinersHospitalfor
ChildrenofTampa
DennisPGrogan,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofOrthopaedic
Surgeons,AmericanMedicalAssociation,AmericanOrthopaedicAssociation,AmericanOrthopaedicFootand
AnkleSociety,EasternOrthopaedicAssociation,IrishAmericanOrthopaedicSociety,PediatricOrthopaedic
SocietyofNorthAmerica,andScoliosisResearchSociety
Disclosure:Nothingtodisclose.

References
1. SmokerWR,KhannaG.Imagingthecraniocervicaljunction.ChildsNervSyst.Oct200824(10):112345.
[Medline].
2. J.M.Parrot.Lesmalformationsachondrodysplasiques.In:BulletinsdelaSocitd'anthropologiedeParis,
1878.1878.
3. BaileyJA2nd.Orthopaedicaspectsofachondroplasia.JBoneJointSurgAm.Oct197052(7):1285301.
[Medline].
4. NelsonMA.Orthopaedicaspectsofthechondrodystrophies.Thedwarfandhisorthopaedicproblems.Ann
RCollSurgEngl.Oct197047(4):185210.[Medline].
5. HortonWA,HallJG,HechtJT.Achondroplasia.Lancet.Jul142007370(9582):16272.[Medline].
6. LaederichMB,HortonWA.Achondroplasia:pathogenesisandimplicationsforfuturetreatment.CurrOpin
Pediatr.Aug201022(4):51623.[Medline].

http://emedicine.medscape.com/article/1258401treatment#aw2aab6b6b2

2/4

4/5/2015

AchondroplasiaTreatment&Management

7. WynnJ,KingTM,GambelloMJ,WallerDK,HechtJT.Mortalityinachondroplasiastudy:A42yearfollow
up.AmJMedGenetA.Nov12007143(21):250211.[Medline].
8. HooverFongJE,McGreadyJ,SchulzeKJ,BarnesH,ScottCI.Weightforagechartsforchildrenwith
achondroplasia.AmJMedGenetA.Oct12007143(19):222735.[Medline].
9. HooverFongJE,SchulzeKJ,McGreadyJ,BarnesH,ScottCI.Ageappropriatebodymassindexin
childrenwithachondroplasia:interpretationinrelationtoindexesofheight.AmJClinNutr.Aug
200888(2):36471.[Medline].
10. IrelandPJ,McGillJ,ZanklA,etal.FunctionalperformanceinyoungAustralianchildrenwith
achondroplasia.DevMedChildNeurol.Oct201153(10):94450.[Medline].
11. IrelandPJ,JohnsonS,DonagheyS,JohnstonL,WareRS,ZanklA,etal.Medicalmanagementof
childrenwithachondroplasia:EvaluationofanAustralasiancohortaged05years.JPaediatrChildHealth.
Nov232011[Medline].
12. LonsteinJE.Treatmentofkyphosisandlumbarstenosisinachondroplasia.BasicLifeSci.198848:28392.
[Medline].
13. CohenME,RosenthalAD,MatsonDD.Neurologicalabnormalitiesinachondroplasticchildren.JPediatr.
Sep196771(3):36776.[Medline].
14. ModaffP,HortonVK,PauliRM.Errorsintheprenataldiagnosisofchildrenwithachondroplasia.Prenat
Diagn.Jun199616(6):52530.[Medline].
15. MorganDF,YoungRF.Spinalneurologicalcomplicationsofachondroplasia.Resultsofsurgicaltreatment.
JNeurosurg.Apr198052(4):46372.[Medline].
16. ErdinclerP,DashtiR,KaynarMY,etal.Hydrocephalusandchronicallyincreasedintracranialpressurein
achondroplasia.ChildsNervSyst.Jun199713(6):3458.[Medline].
17. BaitnerAC,MaurerSG,GruenMB,DiCesarePE.Thegeneticbasisoftheosteochondrodysplasias.J
PediatrOrthop.SepOct200020(5):594605.[Medline].
18. WangQ,GreenRP,ZhaoG,OrnitzDM.Differentialregulationofendochondralbonegrowthandjoint
developmentbyFGFR1andFGFR3tyrosinekinasedomains.Development.Oct2001128(19):386776.
[Medline].
19. CarakushanskyG,RosembaumS,RibeiroMG,etal.AchondroplasiaassociatedwithDownsyndrome.Am
JMedGenet.May1199877(2):1689.[Medline].
20. LugoN,BeckerJ,VanBosseH,etal.Lungvolumehistogramsaftercomputedtomographyofthechest
withthreedimensionalimagingasamethodtosubstantiatesuccessfulsurgicalexpansionoftheribcagein
achondroplasia.JPediatrSurg.May199833(5):7336.[Medline].
21. SongHR,ChooniaAT,HongSJ,LeeSH,SuhSW,ChaIH.Rotationalprofileofthelowerextremityin
achondroplasia:computedtomographicexaminationof25patients.SkeletalRadiol.Dec200635(12):929
34.[Medline].
22. JeongST,SongHR,KenySM,TelangSS,SuhSW,HongSJ.MRIstudyofthelumbarspinein
achondroplasia.Amorphometricanalysisfortheevaluationofstenosisofthecanal.JBoneJointSurgBr.
Sep200688(9):11926.[Medline].
23. RollinsN,BoothT,ShapiroK.TheuseofgatedcinephasecontrastandMRvenographyin
achondroplasia.ChildsNervSyst.Sep200016(9):56975discussion5757.[Medline].
24. MoritaniT,AiharaT,OgumaE,MakiyamaY,NishimotoH,SmokerWR.Magneticresonancevenography
ofachondroplasia:correlationofvenousnarrowingatthejugularforamenwithhydrocephalus.Clin
Imaging.MayJun200630(3):195200.[Medline].
25. MehtaA,HindmarshPC.Theuseofsomatropin(recombinantgrowthhormone)inchildrenofshortstature.
PaediatrDrugs.20024(1):3747.[Medline].
26. BellDF,BoyerMI,ArmstrongPF.TheuseoftheIlizarovtechniqueinthecorrectionoflimbdeformities
associatedwithskeletaldysplasia.JPediatrOrthop.MayJun199212(3):28390.[Medline].
27. BrooksWC,GrossRH.GenuVaruminChildren:DiagnosisandTreatment.JAmAcadOrthopSurg.Nov
19953(6):326335.[Medline].
28. GilZ,TaumanR,SivanJ,etal.[Neurosurgicalaspectsinachondroplasia:evaluationandtreatment].
Harefuah.Nov2001140(11):102631,1118.[Medline].
29. KashiwagiN,SuzukiS,SetoY,FutamiT.Bilateralhumerallengtheninginachondroplasia.ClinOrthop.
Oct2001(391):2517.[Medline].
30. MamadaK,NakamuraK,MatsushitaT,etal.Thediameterofcallusinleglengthening:28tibial
lengtheningsin14patientswithachondroplasia.ActaOrthopScand.Jun199869(3):30610.[Medline].
31. PaleyD.Currenttechniquesoflimblengthening.JPediatrOrthop.JanFeb19888(1):7392.[Medline].
32. PerettiG,MemeoA,ParonziniA,MarzoratiS.Stagedlengtheninginthepreventionofdwarfismin
achondroplasticchildren:apreliminaryreport.JPediatrOrthopB.19954(1):5864.[Medline].
33. PyeritzRE,SackGHJr,UdvarhelyiGB.Thoracolumbosacrallaminectomyinachondroplasia:longterm
resultsin22patients.AmJMedGenet.Oct198728(2):43344.[Medline].
34. RavenscroftA,RoutC.Epiduralanaesthesiaforcaesareansectioninanachondroplasticdwarf.BrJ
Anaesth.Feb199982(2):3013.[Medline].
35. LeeSH,ModiHN,SongHR,HazraS,SuhSW,ModiC.Decelerationinmaturationofboneduring
adolescentageinachondroplasiaaretrospectivestudyusingRUSscoringsystem.SkeletalRadiol.Jul16
2008[Medline].
36. LeeST,SongHR,MahajanR,MakwanaV,SuhSW,LeeSH.Developmentofgenuvarumin
achondroplasia:relationtofibularovergrowth.JBoneJointSurgBr.Jan200789(1):5761.[Medline].
37. KimSJ,AgasheMV,SongSH,ChoiHJ,LeeH,SongHR.Comparisonbetweenupperandlowerlimb
lengtheninginpatientswithachondroplasia:aretrospectivestudy.JBoneJointSurgBr.Jan
201294(1):12833.[Medline].

http://emedicine.medscape.com/article/1258401treatment#aw2aab6b6b2

3/4

4/5/2015

AchondroplasiaTreatment&Management

38. SchiedelF,RdlR.Lowerlimblengtheninginpatientswithdisproportionateshortstaturewith
achondroplasia:asystematicreviewofthelast20years.DisabilRehabil.Nov232011[Medline].
39. KoczewskiP,ShadiM.[SurgicaltreatmentofshortstatureofdifferentetiologybytheIlizarovmethod].
EndokrynolDiabetolChorPrzemianyMateriiWiekuRozw.200713(3):1436.[Medline].
40. AmericanAcademyofPediatricsCommitteeonGenetics.Healthsupervisionforchildrenwith
achondroplasia.Pediatrics.Mar199595(3):44351.[Medline].
41. FrigonVA,CastroFP,WhitecloudTS,RoeschW.Isolatedsubaxialcervicalspinestenosisin
achondroplasia.CurrSurg.Jul1200057(4):354356.[Medline].
42. HunterAG,BankierA,RogersJG,etal.Medicalcomplicationsofachondroplasia:amulticentrepatient
review.JMedGenet.Sep199835(9):70512.[Medline].
43. MahomedNN,SpellmannM,GoldbergMJ.Functionalhealthstatusofadultswithachondroplasia.AmJ
MedGenet.Jun16199878(1):305.[Medline].
44. MettlerG,FraserFC.Recurrenceriskforsibsofchildrenwith"sporadic"achondroplasia.AmJMedGenet.
Jan31200090(3):2501.[Medline].
45. ThompsonNM,HechtJT,BohanTP,etal.Neuroanatomicandneuropsychologicaloutcomeinschoolage
childrenwithachondroplasia.AmJMedGenet.Apr16199988(2):14553.[Medline].
MedscapeReference2011WebMD,LLC

http://emedicine.medscape.com/article/1258401treatment#aw2aab6b6b2

4/4