Genetic disorders | healthdirect

Genetic disorders · Albinism · Angelman syndrome · Ankylosing spondylitis · Apert syndrome · Charcot-Marie-Tooth disease · Congenital adrenal hyperplasia · Cystic ... PRINT SHARE shareviaFacebook shareviaTwitter shareviaEmail Thereisatotalof5errorsonthisform,detailsarebelow. Pleaseenteryourname Pleaseenteryouremail Youremailisinvalid.Pleasecheckandtryagain Pleaseenterrecipient'semail Recipient'semailisinvalid.Pleasecheckandtryagain AgreetoTermsrequired Thankyouforsharingourcontent.Amessagehasbeensenttoyourrecipient'semailaddresswithalinktothecontentwebpage. Yourname:isrequired Error:Thisisrequired Youremail:isrequired Error:Thisisrequired Error:Notavalidvalue Sendto:isrequired Error:Thisisrequired Error:Notavalidvalue Error:Thisisrequired IhavereadandagreetotheTermsofUseandPrivacyPolicyisrequired. Albinism Albinismisagroupofgeneticconditions.Peoplewithalbinismhavenoorverylittlecolourintheirhair,skinandeyessosunprotectionisvital. ReadmoreaboutAlbinism. Angelmansyndrome Araresyndromecausingphysicalandintellectualdisability.Itcan’tbecured,butsometherapiescanimprovethequalityoflifeofthoseaffected.... ReadmoreaboutAngelmansyndrome. Ankylosingspondylitis Thisrareformofarthritisaffectsthespine’sjointsandligamentsandsometimesotherjoints.There’snocure,buttreatmentcaneasethesymptoms. ReadmoreaboutAnkylosingspondylitis. Apertsyndrome Apertsyndromeisarareconditionthatcausesanabnormallyshapedskull,fusedfingersandtoes.Surgeryandothertreatmentscanhelpdevelopment. ReadmoreaboutApertsyndrome. Charcot-Marie-Toothdisease Thisgroupofgeneticconditionsaffectsthenervoussystem,usuallythehandandfootmusclesfirst.Itworsens,butsometherapiesareeffective. ReadmoreaboutCharcot-Marie-Toothdisease. Congenitaladrenalhyperplasia Congenitaladrenalhyperplasiaaffectsthehormones.Peoplewiththeconditionwillhavehealthproblems,butmightstillenjoyanormallifestyle. ReadmoreaboutCongenitaladrenalhyperplasia. Cysticfibrosis(CF) Cysticfibrosis(CF)isadiseaseaffectingthelungsanddigestivesystem.TreatmentscanimprovethequalityoflifeforpeoplelivingwithCF. ReadmoreaboutCysticfibrosis(CF). Downsyndrome Thissyndromecauseslearningdifficulties,withagreaterchanceofhealthproblems.Everyoneisaffecteddifferently. ReadmoreaboutDownsyndrome. Duchennemusculardystrophy DMD,thecommonestmusculardystrophyinkids,causesgraduallossofmusclefunction,affectingeverydayactivity.Treatmentmayhelpdailylife. ReadmoreaboutDuchennemusculardystrophy. Ehlers-Danlossyndrome PeoplewithEhlers-Danloshaveveryloosejointsandeasilybruisedorstretchyskin.Symptomscanbemanaged,buttheriskofinjuryisincreased. ReadmoreaboutEhlers-Danlossyndrome. FragileXsyndrome FragileXcausesintellectualdisability,behaviouralandlearningdifficulties,andphysicalproblems.It’sthecommonestgeneticcauseofautism. ReadmoreaboutFragileXsyndrome. Haemochromatosis Haemochromatosiscausesthebodytoabsorbtoomuchiron,leadingtoorgandamage.Bloodtestswilldiagnoseit,andtreatmentsareavailable. ReadmoreaboutHaemochromatosis. Haemophilia Haemophiliastopsbloodfromclottingproperly,causingabnormalbleeding.It’sbestmanagedbyamultidisciplinaryteamofhealthprofessionals. ReadmoreaboutHaemophilia. Huntington’sdisease Huntington'saffectsthenervoussystemandworsensovertime.Symptomsincludedifficultycontrollinglimbs,andcognitiveandemotionalchanges. ReadmoreaboutHuntington’sdisease. Klinefeltersyndrome Affectingmales,symptomscanincludesmallgenitalsandinfertility.It'sestimated1in500menhaveKlinefeltersyndrome,butmostareunaware. ReadmoreaboutKlinefeltersyndrome. Marfansyndrome Thisconditionaffectstissuethatstrengthensandstabilisesjointsandmuscles.PeoplewithMarfansyndromeareoftentallandlong-limbed. ReadmoreaboutMarfansyndrome. Neurofibromatosis Neurofibromatosisisamanageablegeneticconditioncharacterisedbybenigntumours.Learnaboutitssymptoms,diagnosisandtreatmentoptions. ReadmoreaboutNeurofibromatosis. Noonansyndrome ChildrenwithNoonansyndromemayhaveoddfacialfeatures,restrictedgrowthandheartdefects,butmost,withtherapy,goontoleadnormallives. ReadmoreaboutNoonansyndrome. Prader-Willisyndrome AdultswithPrader-Willimayexperiencesleepingandbreathingproblems,andhaveaninsatiableappetite,whichcanleadtolife-threateningobesity. ReadmoreaboutPrader-Willisyndrome. Rettsyndrome Rettsyndromecausesintellectualandphysicaldisability.It’sbeendescribedrelativelyrecently,soit’snotknownhowitprogressestomiddleage. ReadmoreaboutRettsyndrome. Tay-Sachsdisease Babies/childrenwithTay-Sachsdevelopslowly,losevisionandspeech,andtypicallydon’treachschoolage.It’scommonerincertaingeneticgroups. ReadmoreaboutTay-Sachsdisease. Thalassaemia Thisinheritedblooddisorderpreventssomeonefrommakingenoughhealthyhaemoglobintocarryoxygenaroundthebody,butitmaynotneedtreatment. ReadmoreaboutThalassaemia. Tourettesyndrome Peoplewiththissyndromemakeinvoluntaryrepetitivesoundsandmovements.Mostdon'tneedtreatment,andrelaxationexercisesmayreducesymptoms. ReadmoreaboutTourettesyndrome. Turnersyndrome Thisgeneticdisorderinvolvessensory,developmentalandhormonalsymptoms,butmostgirlsandwomenwithTurnersyndromeenjoyanormallife. ReadmoreaboutTurnersyndrome. VonWillebranddisease PeoplewithvonWillebranddiseasehavetroublecontrollingtheirbleedingbecauseabloodclottingfactoriseitherabsent,lowordefective. ReadmoreaboutVonWillebranddisease. Williamssyndrome Williamssyndromecancausedevelopment,learningandmedicalproblems,althoughchildrenwithitoftenhavewell-developedlanguageandmusicskills. ReadmoreaboutWilliamssyndrome. PRINT SHARE shareviaFacebook shareviaTwitter shareviaEmail Thereisatotalof5errorsonthisform,detailsarebelow. Pleaseenteryourname Pleaseenteryouremail Youremailisinvalid.Pleasecheckandtryagain Pleaseenterrecipient'semail Recipient'semailisinvalid.Pleasecheckandtryagain AgreetoTermsrequired Thankyouforsharingourcontent.Amessagehasbeensenttoyourrecipient'semailaddresswithalinktothecontentwebpage. Yourname:isrequired Error:Thisisrequired Youremail:isrequired Error:Thisisrequired Error:Notavalidvalue Sendto:isrequired Error:Thisisrequired Error:Notavalidvalue Error:Thisisrequired IhavereadandagreetotheTermsofUseandPrivacyPolicyisrequired. Symptomchecker Worriedaboutyourhealth?Selectasymptom,answersomequestions,getadvice. StartYourSymptomCheck servicecategory Findahealthservice Pleaseenterasuburborpostcodeofyourlocationandselectfromthelist. Unabletofindyourlocation.Pleaseentermanuallybelow. Locationnotfound. GP(Generalpractice) Pharmacy EmergencyDepartments Hospitals Needmoreservices? enteralocation Pleaseenterasuburborpostcodeofyourlocationandselectfromthelist. Unabletofindyourlocation.Pleaseentermanuallybelow. Locationnotfound. Enteralocation {{prefLabel}} Usecurrentlocation Search Checkyoursymptoms Findahealthservice Healthdirect24hr7daysaweekhotline 24hourhealthadviceyoucancounton 1800022222 GovernmentAccreditedwithover140informationpartners Weareagovernment-fundedservice,providingquality,approvedhealthinformationandadvice