genetiske sygdomme og tilstande - knogler, muskler og bindevv
bindevv er en bred betegnelse for stttende vv, der giver kroppens rammer. bindevv omfatter knogler, muskler, brusk og sener. der er en rkke af lidelser, der er forrsaget af defekter i gener, der er vigtige for dannelsen og funktionen af bindevv. ACH se achondroplasia achondrogenesis achondroplasia acrocephalosyndactyly (apert) se apert syndrom acrocephalosyndactyly, type V se Pfeiffer syndrom Adelaide-typen craniosynostosis se muenke syndrom adrenoleukodystrophy se X-linked adrenoleukodystrophy adrenomyeloneuropathy se x-linked adrenoleukodystrophy voksen tidlig ldning syndrom se Werner syndrom voksen progeria se Werner syndrom AKU se alkaptonuria alcaptonuria se alkaptonuria alkaptonuria alkaptonuric ochronosis se alkaptonuria als se amyotrofisk lateral sklerose amyotrofisk lateral sklerose Andersen cardiodysrhythmic periodiske lammelser se Andersen-Tawil syndrom andersen syndrom se Andersen-Tawil syndrom Andersen-Tawil syndrom ankyloserende spondylitis AO2 se atelosteogenesis, type 2 apert syndrom arachnodactyly se Marfan Syndrom arthrochalasis multiplex congenita se Ehlers-Danlos syndrom, arthrochalasia typen som - ankyloserende spondylitis se ankyloserende spondylitis atelosteogenesis, type 2 ATS se andersen-Tawil syndrom autosomal dominant Opitz g / bbb syndrom se 22q11.2 sletning syndrom Bartholin-patau syndrom se trisomi 13 bdls See Cornelia de Lange syndrom Beare-Stevenson cutis gyrata syndrom Bechterews sygdom, jf. ankyloserende spondylitis Beuren syndrom se Williams syndrom Brachmann-de Lange syndrom se Cornelia de Lange syndrom knogleskrhed se osteogenesis imperfecta brede tommelfinger-hallux syndrom se Rubinstein-taybi syndrom bulbospinal muskelsvind, X-linked se spinal og bulbar muskelatrofi carnitinpalmitoyltransferase ii mangel carnitin transporter mangel se primre carnitinmangel carnitin optagelse defekt se primre carnitinmangel karnitin optagelse mangel se primre carnitinmangel catch22 se 22q11.2 sletning syndrom grotte kompleks se Pallister-hal syndrom cayler cardiofacial syndrom se 22q11.2 sletning syndrom CdLS se Cornelia de Lange syndrom cephalopolysyndactyly syndrom se Greig cephalopolysyndactyly syndrom cerebroacrovisceral tidlig ddelighed kompleks se Pallister-hal syndrom Charcot sygdom, jf. amyotrofisk lateral sklerose Charcot-Marie-Tooth sygdom chondrodystrophia foetalis se achondroplasia chondrodystrophy syndrom se achondroplasia chondrodystrophy med sensorineural dvhed se otospondylomegaepiphyseal dysplasi chondroectodermal dysplasi se Ellis-van Creveld syndrom choreoathetosis selvlemlstelse syndrom se Lesch-Nyhan syndrom kromosomal ubalance syndrom, par 13, trisomi se trisomi 13 kromosomalt ubalance syndrom, par 18, trisomi se trisomi 18 kromosom 13 trisomi syndrom se trisomi 13 kromosom 17p slettes syndrom se Smith-magenis syndrom klassisk Ehlers-Danlos syndrom se Ehlers-Danlos syndrom, klassiske type klassisk Niemann-Picks sygdom, jf. Niemann-Picks sygdom klverblads kranium med thanatophoric dvrgvkst se thanatophoric dysplasi, type 2 CLS se kiste-Lowry syndrom CMT se Charcot-Marie-Tooth sygdom cockayne syndrom kiste-Lowry syndrom komplet HPRT mangel se Lesch-Nyhan syndrom komplet hypoxanthin-guaninphosphoribosyltransferase mangel se Lesch-Nyhan syndrom komplet trisomi 13 syndrom se trisomi 13 komplet trisomi 18 syndrom se trisomi 18 medfdt osteosklerose se achondroplasia conotruncale anomali ansigt syndrom (ctaf) se 22q11.2 sletning syndrom Cornelia de Lange syndrom cpt2 - carnitinpalmitoyltransferase ii mangel se carnitinpalmitoyltransferase ii mangel cptii - carnitinpalmitoyltransferase mangel type II se carnitinpalmitoyltransferase ii mangel kraniofaciale dysarthrosis se crouzon syndrom kraniofaciale dysostosis se crouzon syndrom crouzon syndrom crouzon syndrom acanthosis nigricans se crouzonodermoskeletal syndrom crouzonodermoskeletal syndrom cs se cockayne syndrom drv se primre carnitinmangel cutis gyrata syndrom af Beare-Stevenson se Beare-Stevenson cutis gyrata syndrom cystin diatese se cystinose cystin sygdom, jf. cystinose cystin storage disease se cystinose cystinoses se cystinose cystinose d1 trisomi se trisomi 13 DAF syndrom se Niemann-Picks sygdom dappled metafyse syndrom se spondyloepimetaphyseal dysplasi, Strudwick typen dbmd se muskelsvind, Duchenne og Becker typer de la Chapelle dysplasi See atelosteogenesis, type 2 de Lange syndrom se Cornelia de Lange syndrom 7-dehydrocholesterol reduktase mangel se smith-lemli-Opitz syndrom sletning 17p syndrom se Smith-magenis syndrom 22q11.2 sletning syndrom dermatosparactic type af Ehlers-Danlos syndrom se Ehlers-Danlos syndrom, dermatosparaxis typen dermatosparaxis se Ehlers-Danlos syndrom, dermatosparaxis typen diastrophic dysplasi DiGeorge syndrom se 22q11.2 sletning syndrom dm1 se myotonic dystrofi, type 1 dm2 se myotonic dystrofi, type 2 dtd se diastrophic dysplasi Duchenne / Becker muskeldystrofi se muskelsvind, Duchenne og Becker typer dvrg, achondroplastic se achondroplasia dvrg, thanatophoric se thanatophoric dysplasi dvrgvkst-retinal atrofi-dvhed syndrom se cockayne syndrom dystrophia myotonica se myotonic dystrofi e3 trisomi se trisomi 18 edm4 se recessive multiple epiphyseal dysplasi eds. se Ehlers-Danlos syndrom Edwards syndrom se trisomi 18 Ehlers-Danlos syndrom Ekman-lobstein sygdom se osteogenesis imperfecta alfeagtig facies syndrom se Williams syndrom Elverpigerne facies med hypercalcemi se Williams syndrom Ellis-van Creveld syndrom epiphyseal dysplasi, multiple, 4 se recessive flere epifyserne dysplasi FA - Friedreichs ataksi se Friedreichs ataksi Fals se amyotrofisk lateral sklerose familir amyotrofisk lateral sklerose se amyotrofisk lateral sklerose familir Turners syndrom se Noonan syndrom kvindelige pseudo-turner syndrom se Noonan syndrom FGFR3-forbundne koronale synostose se muenke syndrom FRA (x ) syndrom se fragilt X-syndrom fragilt X-syndrom fragilitas ossium se osteogenesis imperfecta franceschetti-Zwahlen-Klein syndrom se Treacher Collins syndrom fraxa syndrom se fragilt X-syndrom frda se Friedreichs ataksi Friedreichs ataksi FXS se fragilt X-syndrom Greig cephalopolysyndactyly syndrom hal-Pallister syndrom se Pallister -hallen syndrom HCH se hypochondroplasia arvelig arthro-oftalmopati se pernittengryn syndrom arvelig motorisk og sensorisk neuropati se Charcot-Marie-Tooth sygdom arvelig motor neuroneopathy se spinal muskelatrofi arvelig spinal ataksi se Friedreichs ataksi arvelig spinal sclerose se Friedreichs ataksi heterozygot osmed se weissenbacher-zweymller syndrom heterozygote otospondylomegaepiphyseal dysplasi se weissenbacher-zweymller syndrom hgps se Hutchinson-Gilford progeria syndrom hmsn se Charcot-Marie-Tooth disease homogentisic syre-oxidase mangel se alkaptonuria homogentisic acidura se alkaptonuria HPRT - hypoxanthin-guanin-phosphoribosyltransferase-mangel se Lesch-Nyhan-syndrom human dermatosparaxis See Ehlers -Danlos syndrom, dermatosparaxis typen Hutchinson-Gilford progeria syndrom hypercalcmi-supravalvar aortastenose se Williams syndrom hypochondrodysplasia se hypochondroplasia hypochondrogenesis hypochondroplasia hypothalamus hamartoblastoma syndrom se Pallister-hal syndrom hypoxanthin phosphoribosyltransferse (HPRT) mangel se Lesch-Nyhan syndrom infantile hypercalcmi se Williams syndrom insley- Astley syndrom se otospondylomegaepiphyseal dysplasi Jackson-Weiss syndrom unge gigt, choreoathetosis, mental retardering syndrom se Lesch-Nyhan syndrom juvenil hyperurikmi syndrom se Lesch-Nyhan syndrom JWS se Jackson-Weiss syndrom kd se spinal og bulbar muskelatrofi Kennedy sygdom, jf. spinal og bulbar muskuls atrofi Kennedy spinal og bulbar muskelatrofi se spinal og bulbar muskelatrofi kniest dysplasi Lesch-Nyhan syndrom lipoid histiocytose (klassisk fosfatid) se Niemann-Picks sygdom LNS se Lesch-Nyhan syndrom langt QT-syndrom 7 Se Andersen-Tawil syndrom Lou Gehrig sygdom, jf. amyotrofisk lateral sklerose lqt7 se Andersen-Tawil syndrom lysyl-hydroxylase mangel se Ehlers-Danlos syndrom, kyphoscoliosis typen mandlig Turners syndrom se Noonan syndrom mandibulofacial dysostosis se Treacher Collins syndrom Marfan syndrom marie-struempell sygdom, jf. ankyloserende spondylitis markr x syndrom se fragilt X-syndrom martin- klokke syndrom se fragilt X-syndrom McAlister dysplasi See atelosteogenesis, type 2 mega-epifyserne dvrgvkst se otospondylomegaepiphyseal dysplasi mental retardering med osteocartilaginous abnormiteter se kiste-Lowry syndrom metatropic dvrgvkst, type II Se kniest dysplasi metatropic dysplasi type II se kniest dysplasi 3-methylglutaconic aciduri mfd1 se Treacher Collins syndrom MFS se marfan syndrom motorisk neuronsygdom, amyotrofisk lateral sklerose se amyotrofisk lateral sklerose muenke syndrom multiple epiphyseal dysplasi, autosomal recessiv se recessive multiple epiphyseal dysplasi muskel form af carnitinpalmitoyltransferase mangel se carnitinpalmitoyltransferase ii mangel muskeldystrofi, Duchenne og Becker typer myotonia atrophica se myotonic dystrofi myotonia dystrophica se myotonic dystrofi myotonic dystrofi vedligeholdelse-insley syndrom se otospondylomegaepiphyseal dysplasi vedligeholdelse-sweeney chondrodysplasia se otospondylomegaepiphyseal dysplasi neonatal ossse dysplasi 1 Se atelosteogenesis, type 2 neuronal kolesterol lipidosis se Niemann-Picks sygdom Niemann-Picks sygdom Noack syndrom se Pfeiffer syndrom Noonan syndrom NPD se Niemann-Picks sygdom ochronosis se alkaptonuria ochronotic gigt se alkaptonuria oi se osteogenesis imperfecta oftalmoplegi, supraoptic lodret se Niemann-Picks sygdom osmed se otospondylomegaepiphyseal dysplasi osteogenesis imperfecta osteopsathyrosis se osteogenesis imperfecta osteosklerose congenita se achondroplasia oto-spondylo-megaepiphyseal dysplasi se otospondylomegaepiphyseal dysplasi otospondylomegaepiphyseal dysplasi Pallister-hal syndrom patau syndrom se trisomi 13 PDM se myotonic dystrofi, type 2 periodiske lammelser, kalium-flsom cardiodysrhythmic typen se Andersen-Tawil syndrom Peroneal muskelsvind se Charcot-Marie-Tooth sygdom Pfeiffer syndrom PHS se Pallister- Hall syndrom Pierre robin syndrom med ftalt chondrodysplasia se weissenbacher-zweymller syndrom platyspondylic letal knogledysplasi, Torrance typen PLSD-t se platyspondylic letal knogledysplasi, Torrance typen PMA se Charcot-Marie-Tooth disease Prader-labhart-Willi-syndrom se Prader-Willi-syndrom Prader-Willi-syndrom primre carnitinmangel primre hyperurikmi syndrom se Lesch-Nyhan-syndrom procollagen typen eds. VII, mutant se Ehlers-Danlos syndrom, arthrochalasia typen progeria se Hutchinson-Gilford progeria syndrom progeria-lignende syndrom se cockayne syndrom progeroid nanism se cockayne syndrom progressiv muskulr atrofi se spinal muskelatrofi gradvis deformerende osteogenesis imperfecta med normale sclerae se osteogenesis imperfecta, type III promm se myotonic dystrofi, type 2 proksimale myotonic dystrofi se myotonic dystrofi, type 2 proksimale myotonic myopati se myotonic dystrofi, type 2 pseudo-Ullrich-Turner syndrom se Noonan syndrom PWS se Prader-Willi syndrom recessive flere epifyserne dysplasi nedsat carnitin transport defekt se primre carnitinmangel reumatoid spondylitis se ankyloserende spondylitis Ricker syndrom se myotonic dystrofi, type 2 rmed se recessive flere epifyserne dysplasi rsh syndrom se smith-lemli-Opitz syndrom rsts se Rubinstein-taybi syndrom RTS se Rubinstein-taybi syndrom Rubinstein-taybi syndrom sk-Barabas syndrom se Ehlers-Danlos syndrom, vaskulr type saddan sbma se spinal og bulbr muskulr atrofi Schilder-Addison kompleks se X-bundet adrenoleukodystrofi sed congenita se spondyloepiphyseal dysplasi congenita sed Strudwick se spondyloepimetaphyseal dysplasi, Strudwick typen sedc se spondyloepiphyseal dysplasi congenita Sedlackova syndrom se 22q11.2 sletning syndrom semd, Strudwick typen se spondyloepimetaphyseal dysplasi, Strudwick typen svr achondroplasia med forsinket udvikling og acanthosis nigricans se saddan shprintzen syndrom se 22q11.2 sletning syndrom skelet- hud-hjerne syndrom se saddan slo syndrom se smith-lemli-Opitz syndrom slos se smith-lemli-Opitz syndrom SMA se spinal muskelatrofi Smed, Strudwick typen se spondyloepimetaphyseal dysplasi, Strudwick typen Smed, type I se spondyloepimetaphyseal dysplasi, Strudwick typen Smith- lemli-Opitz syndrom smith-magenis syndrom sms se Smith-magenis syndrom SPD se spondyloperipheral dysplasi sphingomyelin / kolesterol lipidosis se Niemann-Picks sygdom sphingomyelin lipidosis se Niemann-Picks sygdom sphingomyelinase, mangel se Niemann-Picks sygdom, spinal og bulbar muskelatrofi spinal muskelatrofi spinocerebellar ataksi, Friedreichs se Friedreichs ataksi spondylarthritis ankylopoietica se ankyloserende spondylitis spondylitis ankylopoietica se ankyloserende spondylitis ankylopoetica, ankyloserende se ankyloserende spondylitis ankylopoietica spondyloarthritis se ankyloserende spondylitis spondyloepimetaphyseal dysplasi, Strudwick typen spondyloepiphyseal dysplasi congenita spondylometaepiphyseal dysplasi congenita, Strudwick typen se spondyloepimetaphyseal dysplasi, Strudwick typen spondylometaphyseal dysplasi ( SMD) se spondyloepimetaphyseal dysplasi, Strudwick typen spondylometaphyseal dysplasi, Strudwick typen se spondyloepimetaphyseal dysplasi, Strudwick typen spondyloperipheral dysplasi ssb syndrom se saddan Steinert sygdom, jf. myotonic dystrofi, type 1 pernittengryn syndrom Strudwick syndrom se spondyloepimetaphyseal dysplasi, Strudwick typen supravalvar aorta stenose syndrom se Williams syndrom schweizisk ost brusk dysplasi se kniest dysplasi 17p-syndrom se smith-magenis syndrom systemisk carnitinmangel se primre carnitinmangel td med lige lrben og klverblads kranium se thanatophoric dysplasi, type 2 thanatophoric dysplasi samlede HPRT mangel se Lesch-Nyhan syndrom samlede hypoxanthin-guaninfosforibosyltransferase transferase-mangel se Lesch-Nyhan syndrom Treacher Collins syndrom Trias fragilitis ossium se osteogenesis imperfecta, type I trisomi 13 trisomi 18 Turner-syndrom se Noonan syndrom Turners syndrom hos kvinder med x kromosomet se Noonan syndrom Turners fnotype, karyotype normal se Noonan syndrom Ullrich- Noonan syndrom se Noonan syndrom van der Hoeve syndrom se osteogenesis imperfecta, type I venturekapitalfonde se 22q11.2 sletning syndrom Velo-cardio-facial syndrom se 22q11.2 sletning syndrom velocardiofacial syndrom se 22q11.2 sletning syndrom vrolik sygdom, jf. osteogenesis imperfecta WBS se Williams syndrom weissenbacher-zweymller syndrom Werner syndrom Williams syndrom WMS se Williams syndrom ws se Werner syndrom, Williams syndrom wzs se weissenbacher-zweymller syndrom X-linked adrenoleukodystrophy x-forbundet hyperurikmi se Lesch-Nyhan syndrom X-bundet mental retardering og macroorchidism se fragilt X-syndrom X-bundet primre hyperurikmi se Lesch-Nyhan-syndrom X-bundet spinal og bulbr muskulr atrofi se spinal og bulbr muskulr atrofi X-bundet urinsyre aciduri enzym-defekt se Lesch-Nyhan-syndromRelaterede Sundhed Artikler
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