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BardetBiedlsyndrome
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ReviewedSeptember2013

WhatisBardetBiedlsyndrome?
BardetBiedlsyndromeisadisorderthataffectsmanypartsofthebody.
Thesignsandsymptomsofthisconditionvaryamongaffectedindividuals,
evenamongmembersofthesamefamily.
VisionlossisoneofthemajorfeaturesofBardetBiedlsyndrome.Lossof
visionoccursasthelightsensingtissueatthebackoftheeye(theretina)
graduallydeteriorates.Problemswithnightvisionbecomeapparentby
midchildhood,followedbyblindspotsthatdevelopintheside
(peripheral)vision.Overtime,theseblindspotsenlargeandmergeto
producetunnelvision.MostpeoplewithBardetBiedlsyndromealso
developblurredcentralvision(poorvisualacuity)andbecomelegally
blindbyadolescenceorearlyadulthood.
ObesityisanothercharacteristicfeatureofBardetBiedlsyndrome.
Abnormalweightgaintypicallybeginsinearlychildhoodandcontinuesto
beanissuethroughoutlife.Complicationsofobesitycanincludetype2
diabetes,highbloodpressure(hypertension),andabnormallyhigh
cholesterollevels(hypercholesterolemia).
OthermajorsignsandsymptomsofBardetBiedlsyndromeincludethe
presenceofextrafingersand/ortoes(polydactyly),intellectualdisability
orlearningproblems,andabnormalitiesofthegenitalia.Mostaffected
malesproducereducedamountsofsexhormones(hypogonadism),and
theyareusuallyunabletofatherbiologicalchildren(infertile).Many
peoplewithBardetBiedlsyndromealsohavekidneyabnormalities,which
canbeseriousorlifethreatening.
AdditionalfeaturesofBardetBiedlsyndromecanincludeimpaired
speech,delayeddevelopmentofmotorskillssuchasstandingandwalking,
behavioralproblemssuchasemotionalimmaturityandinappropriate
outbursts,andclumsinessorpoorcoordination.Distinctivefacialfeatures,
dentalabnormalities,unusuallyshortorfusedfingersand/ortoes,anda
partialorcompletelossofthesenseofsmell(anosmia)havealsobeen
reportedinsomepeoplewithBardetBiedlsyndrome.Additionally,this
conditioncanaffecttheheart,liver,anddigestivesystem.

HowcommonisBardetBiedlsyndrome?
InmostofNorthAmericaandEurope,BardetBiedlsyndromehasa
prevalenceof1in140,000to1in160,000newborns.Theconditionis

morecommonontheislandofNewfoundland(offtheeastcoastof
Canada),whereitaffectsanestimated1in17,000newborns.Italsooccurs
morefrequentlyintheBedouinpopulationofKuwait,affectingabout1in
13,500newborns.

WhatgenesarerelatedtoBardetBiedlsyndrome?
BardetBiedlsyndromecanresultfrommutationsinatleast14different
genes(oftencalledBBSgenes).Thesegenesareknownorsuspectedto
playcriticalrolesincellstructurescalledcilia.Ciliaaremicroscopic,
fingerlikeprojectionsthatstickoutfromthesurfaceofmanytypesof
cells.Theyareinvolvedincellmovementandmanydifferentchemical
signalingpathways.Ciliaarealsonecessaryfortheperceptionofsensory
input(suchassight,hearing,andsmell).TheproteinsproducedfromBBS
genesareinvolvedinthemaintenanceandfunctionofcilia.
MutationsinBBSgenesleadtoproblemswiththestructureandfunction
ofcilia.Defectsinthesecellstructuresprobablydisruptimportant
chemicalsignalingpathwaysduringdevelopmentandleadto
abnormalitiesofsensoryperception.Researchersbelievethatdefective
ciliaareresponsibleformostofthefeaturesofBardetBiedlsyndrome.
AboutonequarterofallcasesofBardetBiedlsyndromeresultfrom
mutationsintheBBS1gene.Another20percentofcasesarecausedby
mutationsintheBBS10gene.TheotherBBSgeneseachaccountforonly
asmallpercentageofallcasesofthiscondition.Inabout25percentof
peoplewithBardetBiedlsyndrome,thecauseofthedisorderisunknown.
InaffectedindividualswhohavemutationsinoneoftheBBSgenes,
mutationsinadditionalgenesmaybeinvolvedincausingormodifyingthe
courseofthedisorder.Studiessuggestthatthesemodifyinggenesmaybe
knownBBSgenesorothergenes.Theadditionalgeneticchangescould
helpexplainthevariabilityinthesignsandsymptomsofBardetBiedl
syndrome.However,thisphenomenonappearstobeuncommon,andithas
notbeenfoundconsistentlyinscientificstudies.
ReadmoreabouttheBBS1andBBS10genes.
SeealistofgenesassociatedwithBardetBiedlsyndrome.

HowdopeopleinheritBardetBiedlsyndrome?
BardetBiedlsyndromeistypicallyinheritedinanautosomalrecessive
pattern,whichmeansbothcopiesofaBBSgeneineachcellhave
mutations.Theparentsofanindividualwithanautosomalrecessive
conditioneachcarryonecopyofthemutatedgene,buttheytypicallydo
notshowsignsandsymptomsofthecondition.

WherecanIfindinformationaboutdiagnosisormanagementof
BardetBiedlsyndrome?
TheseresourcesaddressthediagnosisormanagementofBardetBiedl
syndromeandmayincludetreatmentproviders.

GeneReview:BardetBiedlSyndrome
GeneticTestingRegistry:BardetBiedlsyndrome
MedlinePlusEncyclopedia:Obesity
MedlinePlusEncyclopedia:Polydactyly
Youmightalsofindinformationonthediagnosisormanagementof
BardetBiedlsyndromeinEducationalresourcesandPatientsupport.
Generalinformationaboutthediagnosisandmanagementofgenetic
conditionsisavailableintheHandbook.Readmoreaboutgenetictesting,
particularlythedifferencebetweenclinicaltestsandresearchtests.
Tolocateahealthcareprovider,seeHowcanIfindageneticsprofessional
inmyarea?intheHandbook.

WherecanIfindadditionalinformationaboutBardetBiedl
syndrome?
YoumayfindthefollowingresourcesaboutBardetBiedlsyndrome
helpful.Thesematerialsarewrittenforthegeneralpublic.
MedlinePlusHealthinformation(5links)
GeneticandRareDiseasesInformationCenter Information
aboutgeneticconditionsandrarediseases
EducationalresourcesInformationpages(2links)
PatientsupportForpatientsandfamilies(5links)
Youmayalsobeinterestedintheseresources,whicharedesignedfor
healthcareprofessionalsandresearchers.
GeneReviews Clinicalsummary
GeneticTestingRegistryRepositoryofgenetictestinformation(1
link)
ClinicalTrials.gov Linkingpatientstomedicalresearch
PubMed Recentliterature
OMIM Geneticdisordercatalog

WhatothernamesdopeopleuseforBardetBiedlsyndrome?
BBS
LaurenceMoonBardetBiedlsyndrome
LaurenceMoonBiedlsyndrome
LaurenceMoonsyndrome
LMBBS
LMS
Formoreinformationaboutnaminggeneticconditions,seetheGenetics
HomeReferenceConditionNamingGuidelinesandHowaregenetic

conditionsandgenesnamed?intheHandbook.

WhatifIstillhavespecificquestionsaboutBardetBiedlsyndrome?
AsktheGeneticandRareDiseasesInformationCenter .

WherecanIfindgeneralinformationaboutgeneticconditions?
TheHandbookprovidesbasicinformationaboutgeneticsinclear
language.
Whatdoesitmeanifadisorderseemstoruninmyfamily?
Whatarethedifferentwaysinwhichageneticconditioncanbe
inherited?
Ifageneticdisorderrunsinmyfamily,whatarethechancesthatmy
childrenwillhavethecondition?
Whyaresomegeneticconditionsmorecommoninparticularethnic
groups?
Theselinksprovideadditionalgeneticsresourcesthatmaybeuseful.
GeneticsandHealth
ResourcesforPatientsandFamilies
ResourcesforHealthProfessionals

WhatglossarydefinitionshelpwithunderstandingBardetBiedl
syndrome?
anosmiaautosomalautosomalrecessivebrachydactylycell
cholesteroldiabetesdigestivedigestivesystemdisabilityend
stagerenaldiseasegenegenitaliahypertensionhypogonadism
infertileinheritedkidneymotorperceptionperipheralpolydactyly
populationprevalencerecessiverenalrenaldiseaseretinastage
syndactylysyndrometissuevisualacuity
YoumayfinddefinitionsfortheseandmanyothertermsintheGenetics
HomeReferenceGlossary.
SeealsoUnderstandingMedicalTerminology.
References(10links)

Theresourcesonthissiteshouldnotbeusedasasubstituteforprofessional
medicalcareoradvice.Usersseekinginformationaboutapersonalgenetic
disease,syndrome,orconditionshouldconsultwithaqualifiedhealthcare
professional.SeeHowcanIfindageneticsprofessionalinmyarea?inthe
Handbook.

Reviewed:September2013
Published:August10,2015
ListerHillNationalCenterforBiomedicalCommunications
U.S.NationalLibraryofMedicine ,NationalInstitutesofHealth

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