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W
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0-9

16p11.2 delesjon

A

Adams-Olivers syndrom

Aicardi-Goutières sykdom

Aicardi syndrom

Akromesomelisk dysplasi

Akutt intermitterende porfyri (AIP)

Alagille syndrom

Amnionbånd syndrom

Androgent insensitivitetssyndrom (AIS)

Angelmans syndrom

Anorektale misdannelser (ARM) / analatresi

Arteriell tortuosity syndrom

Arthrogryposis multiplex congenita (AMC)

Asperger syndrom

Ataxia telangiectasia (AT)

B

Bardet-Biedl syndrom (BBS)

Beckers muskeldystrofi

Beckwith-Wiedemanns syndrom

C

Campomelisk dysplasi

Cartilage-hair hypoplasia (CHH)

Catel-Manzke syndrom

Charcot-Marie-Tooths sykdom (CMT)

Chondrodysplasia punctata

Congenital contractural arachnodactyli - CCA

Cystisk fibrose

D

Diastrofisk dysplasi

Duchennes muskeldystrofi

Dystrofia myotonika type 1

Dystrofia myotonika type 2

E

Ehlers-Danlos' syndrom (EDS)

Epidermolysis bullosa (EB)

Erytropoietisk protoporfyri (EPP)

F

Facioscapulohumeral muskeldystrofi

Familiære thorakale aortaaneurismer og disseksjoner (FTAAD)

Femoralt-facialt syndrom

Fibrodysplasia ossificans progressiva (FOP)

Fibrøs dysplasi

Fragilt X syndrom

G

GLUT1-mangelsykdom

H

Hereditær Hemoragisk Telangiektasi (HHT)

Hereditær Spastisk Paraparese (HSP)

Hereditær koproporfyri (HCP)

Holt-Orams syndrom

Huntingtons sykdom

Hypokondroplasi

I

Idiopatisk hypersomni

J

K

Kjønnskromosomavvik

Kleine-Levin syndrom

Klinefelters syndrom

Kniests dysplasi

Kondroektodermal dysplasi (Ellis-van Crevelds syndrom)

Kongenital erytropoietisk porfyri (CEP)

L

Landau-Kleffner syndrom (ervervet afasi med epilepsi)

Larsens syndrom

Leri-Weills dyskondrosteose (LWD)

Limb-girdle muskeldystrofi

Loeys-Dietz' syndrom

M

Maffuccis syndrom

Marfans syndrom

McCune-Albrights syndrom

Metafyseal kondrodysplasi, Jansen type

Metakondromatose

Metatrofisk dysplasi

Miller-Diekers syndrom

Multiple osteokondromer (MO) eller multiple hereditære eksostoser (MHE)

Multippel epifyseal dysplasi (MED)

N

Nevromuskulære sykdommer

O

Ohtahara syndrom

Olliers sykdom eller enkondromatose

Osteogenesis imperfecta (OI)

Osteopatia Striata, cranial sclerose syndrom

Overvekstsyndrom

P

PKU (fenylketonuri)

Periodisk paralyse (PP)

Polands syndrom

Porphyria cutanea tarda (PCT)

Porphyria variegata (PV)

Prader-Willis syndrom

Primær ciliær dyskinesi (PCD)

Progressiv myoklonusepilepsi Nordsjøvarianten (North Sea)

Progressiv pseudorheumatoid dysplasi

Pseudoakondroplasi

R

Robinows syndrom

S

Schimke immuno-ossøs dysplasi (SIOD)

Sensenbrenner syndrom

Shprintzen-Goldbergs syndrom

Shwachman-Diamond syndrom

Silver-Russells syndrom

Smith-Magenis’ syndrom

Spedbarnsepilepsi med migrerende fokale anfall

Spinal muskelatrofi

Spinal muskelatrofi med respirasjonsvansker

Spondyloepifyseal dysplasi congenita – SEDC

Spondyloepifyseal dysplasi tarda, SEDT, X-bundet

Spondyloepifyseal dysplasi – SED

Spondyloepimetafyseal dysplasi (SEMD)

Spondylokarpotarsal synostose syndrom

Spondylometafyseal dysplasi (SMD - Kozlowski)

Spondyloperiferal dysplasi

Sturge-Weber syndrom

Stüve-Wiedemanns syndrom

T

Thrombocytopenia aplasia radii syndrom (TAR-syndrom)

Tidlig myoklon encefalopati

Tourettes syndrom

Trikorhinofalangealt syndrom (TRPS)

Tuberøs sklerose

U

Unverricht-Lundborg sykdom

V

VATER, VATERS, VACTERL OG VACTERLS

W

Welanders distale myopati

Williams syndrom

Ø

Øsofagusatresi

Diagnose

Målgruppe

Innholdstype

Sertifisering

Nullstill filter

3M syndrom

3M syndrom, også kalt dolychospondylisk dysplasi, er en sjelden diagnose som gir kortvoksthet og skjelettforandringer.

TRS kompetansesenter for sjeldne diagnoser har kompetansesenteransvar for diagnosen.

Les mer på TRS sine sider

Kontakt oss

Ansvarlig redaktør: Elisabeth Føll Bækken

Alle henvendelser kan sendes til: post@sjelden.no

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