Diagnoser i Sjældne-netværket og medlemsforeningerne
I indexet nedenfor finder du de sjældne diagnoser, som er med i vores Sjældne-netværk eller i én af vores medlemsforeninger. Listen indeholder således ikke alle sjældne diagnoser, der kendes til i Danmark. Listen udbygges og justeres løbende, når nye netværk og foreninger opstår.
Har du fået diagnosticeret en sjælden diagnose som ikke findes på listen, så er du meget velkommen til at kontakte os. Vi vurderer konkret på den enkelte diagnose om et nyt netværk kan oprettes. Læs mere om Sjældne-netværket og se listen over Sjældne Diagnosers medlemsforeninger her.
A
- Aagenæs syndrom
- Aarskog syndrom
- Abetalipoproteinæmi
- Achondroplasi
- Acrodysostosis
- Acromelic frontonasal dysplasi
- ACTA2,R179H
- Addison sygdom (binyrebarksvigt)
- Adrenogenitalt syndrom (AGS)
- Adrenomyeloneuropati og Adrenoleukodystrofi
- Ahornsirupuri (MSUD)
- aHus
- Aicardi syndrom
- Akalasi
- Akut dissemineret encephalomyelit (ADEM)
- Akut intermitterende porfyri
- Alagille syndrom
- Albinisme
- Albright hereditær osteodystrofi
- Alexanders sygdom
- Alfa-1
- Alfi syndrom
- Allan-Herndon-Dudley Syndrom
- Allergisk bronkopulmonal aspergillose (ABPA)
- Alport syndrom
- Alströms syndrom
- Alternerende hemiplegi
- AL amyloidose
- Amelogenesis imperfecta
- Amyotrofisk Lateral Sklerose
- Analatresi
- Angelman syndrom
- Aniridi
- Anti-fosfolipid antistofsyndrom
- Apert syndrom
- Aplasia Cutis Congenita
- Arboleda-Tham syndrom (Kat6a syndrom)
- Arm-/bendefekt
- Arnold Chiaris Malformation
- Arteriovenøse malformationer
- Arthrogryposis multiplex congenita
- Ataxia Telangiectasia
- ATR-X syndrom
- Autoimmunt polyendokrint syndrom type 1
- Axenfeld-Rieger syndrom
B
- Baraitser-Winter syndrom
- Bardet-Biedl syndrom
- Barraquers-Simons syndrom
- Bartter syndrom
- Beckers Muskeldystrofi
- Beckwith Wiedemann syndrom
- Behcet’s syndrom
- Behr syndrom
- Berardinelli-Seip syndrom
- Bernard-Souliers syndrom
- Birdshot chorioretinopati
- Birt-Hogg-Dubé Syndrom
- Blau Syndrom
- Blue cone monokromasi
- Blæreekstrofi
- Bosch-Boonstra-Schaaf optic atrophy syndrom
- BRPF1
- Bugvægsdefekter
C
- CACNA1A-relateret sygdom
- CACNA1E-relateret sygdom
- Cadasil
- CAFDADD
- Campomel dysplasi
- Camurati-Engelmann disease (CED)
- Canavans syndrom
- Carbamoylfosfat syntetase
- Carbohydrate-deficient glycoprotein type 1a
- Carbohydrate-deficient glycoprotein type 1b
- Carbohydrate-deficient glycoprotein type 1g
- Cardio-facio-cutaneus syndrom
- Carnitin transporter defekt (CTD)
- Carpenter syndrom
- CASK related intellectual disability
- CDKL-5-genmutation
- CDK8 genmutation
- Cerebellar hypoplasi
- CERT1
- Charcot-Marie-Tooth sygdom
- CHARGE syndrom
- CHD2
- Chitayat syndrom
- Choanal atresi
- Chondrodysplasia punktata
- Chronic progressive external ophthalmoplegia
- Chronic relapsing inflammatory optic neuropathy
- Cicatricial pemfigoide
- Citrin defekt
- CNOT3
- Coffin-Lowry syndrom
- Coffin-Siris syndrom
- Cohen syndrom
- COL4A1/A2 relateret sygdom
- Congenital amegakaryocytic thrombocytopenia
- Congenital disorders of glycosylation
- Congenit Radioulnar Synostosis
- Cornelia de Lange
- Corpus callosum agenesis
- Costello syndrom
- Cowden syndrom (PTEN)
- CPT 2 mangel
- Craniocervical instability
- Cranium bifidum
- CRD – ctcf related disorder
- Cri du chat syndrom
- Crouzon syndrom
- Culler-Jones syndrom
- Cushings syndrom
- Cutis Marmorata Telangiectatica Congenita
- CUX1 haploinsufficiens
- CUX2
- Cyclisk neutropeni
- Cystinose
- Cystinuri
- Cystisk Fibrose
- C3 Glomerulonephritis
D
- Dandy-Walker syndrom
- Danon syndrome
- Darier syndrom
- DDX3X-genmutation
- Deletion mellem kromosom 22 og 4 uharmonisk
- Delleman syndrom
- Dercums sygdom
- DeSanto-Shinawi syndrom
- Devic’s disease
- DHX9
- Diabetes Insipidus
- Diamond Blackfans Anæmi
- DIAPH1
- Diastematomyelia
- Dias Logan syndrom
- DICER1 syndrom
- Distal monosomi 3p
- Distal 10q Trisomi (paritel)
- DLG4-relateret sygdom
- Duane syndrom
- Duchennes Muskeldystrofi
- Duodenalatresi
- Duplikation på 14q32 & deletion på 18q22.3-q23
- Duplikation X (q22.1-q25)
- Dværgvækst
- DYRK 1A
- Dystrofia Myotonica
- Dystrofia Myotonica type 1
- Dystrofia Myotonica type 2
E
- Ectopia lentis
- Edwards og Patau syndrom
- EEC syndrom
- Ehlers-Danlos syndrom
- Ellis van Creveld syndrom
- Emery-Dreifuss Muskeldystrofi
- Eosinofil gastroenteritis
- Epidermal Nevus Syndrom
- Epidermolysis Bullosa Simplex
- Episodisk ataksi
- Erythema Elevatum Diutinum
- Erythromelalgia
- Erytropoietisk porfyri
- Essentiel Trombocytose
F
- Fabry sygdom
- Facio-Scapulo-Humeral Muskeldystrofi
- Familiær middelhavsfeber
- Familiær Partiel Lipodystrofi – Dunnigan type 2
- Fanconi Anæmi
- Faundes-Banka syndrome
- FBOX11-relateret sygdom
- FBXW7-relateret sygdom
- Feltys syndrom
- Fibrodysplasia Ossificans Progressiva
- Fibromuskulær dysplasi i arterierne
- Fibrøs dysplasi
- FLNA genmutation
- Floating Harbour syndrome
- Fokal dermal hypoplasi
- FOXP1 syndrom
- Fragilt X syndrom
- Friedreichs ataksi
- Fæokromocytom og Paragangliom
G
- GABRG2
- GACI/ARHR2
- Galaktosæmi
- Galdevejsatresi
- Gaucher sygdom
- Generalized arterial calcifacation of infancy
- Giant Axonal Neuropathy
- Gillespie syndrom
- Glanzmanns trombasteni
- Glutarsyreuri type 1
- GLUT1-defekt syndrom
- GM1 Gangliosidosis
- GNA01
- Goldenhar syndrom
- Gomez-Lopez-Hernandez syndrom
- Gorham-Stout syndrome
- GPIBD15
- Greig syndrom
- GRI-sygdomme
H
- HADDS
- Hallermann-Streiff syndrom
- Handicappede Børn og Unge uden Diagnose
- Hashimoto encephalopathy
- Helsmoortel-Van der Aa syndrom
- Hemifacial infiltrerende lipomatose
- Hemihypertrofi
- Hereditært angioødem
- Hereditær Autonom Sensorisk Neuropati
- Hereditær Coproporfyri
- Hereditær fruktose intolerance
- Hereditær Hæmorrhagisk Telangiektasi
- Hereditær spastisk paraparese
- HNPP
- HNRNPU- relateret sygdom
- Holoprosencephali
- Holt-Oram syndrom
- Homocystinuria
- Hunter (MPSII)
- Huntingtons Sygdom
- Hurler (MPSI)
- Hurst syndrom
- Hypereosinofilt syndrom
- Hyperinsulinisme kongenit
- Hyper-IgD syndrom
- Hyper-IgE syndrom
- Hypofosfatasi
- Hypohidrotisk Ectodermal Dysplasi
- Hæmofili A
- Hæmofili B
I
K
- Kabuki syndrom
- Kaudalt regressionssyndrom
- KBG syndrom
- KCNB1 mutation
- KCNC1
- KCNQ2 (KCNQ2-NEE)
- KCNT1
- KDM3B relateret syndrom
- KDM3B-relateret syndrom
- Kearns-Sayre Syndrom
- Kennedys syndrom (Bulbo Spinal Muskelatrofi)
- Keratitis ichthyosis deafness syndrom
- KIDINS220-relateret sygdom
- Kikuchi-Fujimoto sygdom
- Kleefstra syndrom
- Klippel Feil syndrom
- Klippel Trénaunay syndrom
- Kloak ekstrofi
- Kløverbladssyndrom
- KMT5B syndrome
- Kompleks-defekterne
- Kongenit central hypoventilationssyndrom
- Kongenit Muskeldystrofi
- Kongenit Myopati
- Krabbes syndrom
- Kufs sygdom
L
- Lambert-Eaton syndrom
- Lamb-Shaffer syndrom
- Landau Kleffner syndrom
- Langerhans celle histiocytose
- Lathosterolosis
- Leighs Syndrom
- Lesch-Nyhans syndrom
- Leukodystrofi 4H
- LHON
- Limb Girdle Muskeldystrofi
- Lissencephali
- Loeys-Dietz syndrom
- Lowe syndrom
- LTBP3-relateret sygdom
- Lymfangiom
- Lymphangioleiomyomatosis
- Lysinurisk proteinintolerance
M
- Madelungs deformity
- Maffucci og Olliers syndrom
- MALS (Median arcuate ligament syndrom)
- Mal De Debarquement Syndrom (MDDS)
- Mannosidose
- Marfan Syndrom
- Maroteaux-Lamy (MPSVI)
- Mastocytose
- Maternally inherited diabetes and deafness (MIDD)
- MCADD
- McCune-Albright syndrom
- meCP2 duplication
- Medfødt døvblindhed
- Medfødt leptinmangel
- MELAS
- Melkersson-Rosenthal Syndrom
- Menkes syndrom
- MERRF
- Metafysær kondrodysplasi, type Jansen
- Metakromatisk leukodystrofi
- Methylmalonsyreæmi
- Microcephali
- Microphtalmia
- Microtia anotia
- Mikrocefalisk osteodysplastic primordial dværgvækst type 2
- Mitchell-Riley syndrom
- Mitokondriel myopati
- Möbius Syndrom
- MONA
- Morbus Ebstein
- Morning glory syndrom
- Morquio (MPSIV)
- Morris syndrom
- Mowat-Wilson syndrom
- Moyamoya sygdom
- MRD58 Syndrom
- MSL3 / Basilicata-Akhtal syndrom
- Muckle Wells syndrom
- Muenke syndrom
- Mukopolysaccaridose (MPS)
- Multicentrisk carpal-tarsal osteolyse syndrom
- Multipel endokrin neoplasi
- Multipel System Atrofi
- Multiple kartilaginøse exostoser
- Muscle Eye-Brain syndrom
- Myastenia Gravis
N
O
- Oculodentodigital dysplasi
- Oculopharyngeal muskular dystrofi
- Odonto-onycho-dermal dysplasia
- Oesophagusatresi
- Okulo-kutan albinisme
- Okulær albinisme
- Optic atrophy-10
- Oral Facial Digitalt syndrom type 1
- Osteitis Condensans Ilii
- Osteogenesis Imperfecta
- Osteopathia striata
- Osteopetrose
- Otopalatodigital syndrom type 1
- Overvækst syndromer
P
- Pachyonychia Congenita
- PANDAS
- Paroxysmal nocturn hæmoglobinuri (PNH)
- Parry Romberg
- Partiel Trisomi 9 P
- Patulous Eustachian Tube
- Pearsons Syndrom
- Pelizaeus Merzbacher sygdom
- Pena Shokeir syndrom type 1
- Periodisk Paralyse
- Peroxisomal biogenese sygdomme
- Peters anomali
- Petrous apex cephaloceles
- Peutz Jeghers syndrom
- PHACE(S) syndrom
- Phelan-McDermid syndrom
- Pierre Robin syndrom
- Pitt Hopkins syndrom
- PKAN
- PKU
- Plantar fibromatosis (Ledderhose disease)
- Poland syndrom
- POLR2A
- Polychondritis
- Polycytæmi Vera
- Polymikrogyri
- Polymyositis og Dermatomyositis
- Pompes sygdom
- Pontocerebellar hypoplasia 2
- Porfyria Cutanea Tarda
- Prader-Willi Syndrom
- Primrose syndrom ZBTB20
- Primær Cilie Dyskenisi (PCD)
- Primær hyperoxaluri type 1
- Primær Lateral Sklerose
- Primær Myelofibrose
- Progeria
- Progressiv supranukleær parese
- PROS (pik3ca-related-overgrowth-spektrum)
- Prune Belly syndrom
- Prurigo nodularis hyde
- Pseudouridine synhase 3 (PUS3)
- Pseudoxanthoma elasticum (PXE)
- PTEN mutation
- Pyknodysostose
- Pyoderma Gangrenosum
- Pyruvat Dehydrogenase Complex
- Pyruvat kinase defekt
R
S
- Saethre-Chotzen syndrom
- Sandhoff syndrom
- Sanfilippo (MPSIII)
- SAPHO syndrom
- Scheie
- Schimke Immunoosseuos dysplasi
- Schnitzler syndrom
- Scimitar syndrome
- SCN8A/2A-relateret epilepsy
- Semicirkular canal dehiscence syndrom
- Septo-Optisk dysplasi
- SETD1B-relateret sygdom
- SETD5-relateret sygdom
- Sfærocytose
- SHANK2
- Shprintzen-Goldberg syndrom
- Shwachman Diamond syndrom
- Sideroblast anæmi
- Sifrim-Hitz-Weiss syndrom CHD4
- Silver Russell syndrom
- Simpson Golabi Behmel syndrom
- Sjögreen-Larssons syndrom
- Sly syndrom (MPSVII)
- Smith-Magenis Syndrom
- Sneddon syndrom
- Snijders Blok-Campeau syndrom
- Sotos Syndrom
- Spielmeyer-Vogt syndrom
- Spinal Muskelatrofi
- Spinal Muskelatrofi type 1
- Spinal muskelatrofi type 2
- Spinal muskelatrofi type 3
- Spinocerebellar Ataksi
- Split hand and foot malformation ledsaget af hørenedsættelse og kraniofaciale misdannelser
- Spondyloepifysær dysplasi
- Stargardt sygdom
- Sticklers syndrom
- Stiff person syndrom
- Sturge Weber syndrom
- STXBP1
- Susacs syndrom
- Syndromiske medfødte Muskeldystrofier
- Synovial osteokondromatose
- Syringomyeli
T
- Takayasus Arteritis
- Talassæmi
- Tatton Brown Rahman syndrom – DNMTA3
- TCF20-relateret sygdom
- Tetrasomi 18p mosaikform
- Thanatofor dysplasi
- THOC2
- Tibial aplasia ectrodactyly
- Tonne-Kalscheuer syndrom
- Tourette syndrom
- Townes-Brocks syndrom
- Transversel akut myelitis
- Treacher Collins syndrom
- Trichorhinophalangealt syndrom type 1
- Trichorhinophalangealt syndrom type 2
- Tripple A syndrom
- Trisomi 14 mosaik syndrom
- TUBB4 genfejl
- Tuberøs Sclerose
- Tyrosine Hydroxylase Deficiency
- Tyrosinose
- Tyrosinæmi type 1
- Tyrosinæmi type 2
- Tyrosinæmi type 3