Her er listen:
(den med stor skrift er min diagnose)
Abetalipoproteinemi |
| Achalasi |
| Achondroplasi |
| Acromegali |
| Adrenogenitalt syndrom |
| Aicardi syndrom |
| Akutte porfyrier |
| Alagilles syndrom |
| Alvorlig faktor I-mangel |
| Alvorlig faktor V-mangel |
| Alvorlig faktor VII-mangel |
| Alvorlige trombocytt funksjonsdefekter |
| Amyloidose, primær |
| Amyotrofisk lateral sklerose(ALS) |
| Angelman syndrom |
| Angiodysplastisk syndrom |
| Apert syndrom |
| Autoimmunt polyendokrint syndrom(APS) type 1 og type 2 |
| Arthrogryposis multiplex congenita |
| Bechets syndrom |
| Becker muskeldystrofi |
| Beckwith-Wiedemann syndrom |
| Blandet bindevevssykdom |
| Blepharofimosis-ptose-epicanthus inversus(BPES) |
| Brankiootorenalt syndrom |
| Bronchopulmonal dysplasi |
| Børjeson-Forsman-Lehmann syndrom |
| Campomelic dysplasi |
| Carbohydratdefekt-glycoproteinsyndrom |
| Carpenter syndrom |
| Cerebellær ataxi |
| Charcot-Marie-Tooth syndrom(CMT) |
| CHARGE syndrom |
| Cherubisme |
| Choanalatresi |
| Chondrodysplasi |
| Churg-Strauss syndrom |
| Cleidocranial Dysplasi |
| Coffin Lowry syndrom |
| Coffin-Siris syndrom |
| Cohen syndrom |
| Congenitt muskeldystrofi |
| Cornelia de Lange syndrom |
| Cowden syndrom(multiple hamartomer) |
| Craniofacial misdannelse, sammensatt |
| Craniosynostose, komplisert |
| Cri du Chat syndrom |
| Crouzons syndrom |
| Currarinos syndrom |
| Cystisk fibrose |
| Dermatomyositt |
| Diastrofisk chondrodysplasi |
| Dubowitz zyndrom |
| Duchenne muskeldystrofi |
| Dystrofia myotonica |
| Døvblindhet, medfødt |
| Ehlers-Danlos syndrom |
| Ektodermal dysplasi |
| Ellis van Creveld syndrom |
| Epidermolysis bullosa dystrofisk/junctional |
| Epifyseal dysplasi |
| Erythropoietisk porfyri (EP) |
| Fabry sykdom |
| Facialis parese, medfødt |
| Fibrodysplasia ossificans progressiva |
| Fibrøs cemento-ossøs dysplasi |
| Freeman Sheldon syndrom |
| Friedreich ataxi |
| Gallegangsatresi |
| Gardner syndrom |
| Gjellebuesyndrom |
| Glutarsyreuri |
| Glykogenose |
| Goldenhar syndrom |
| Gorlin syndrom |
| Granulocytopeni, primær |
| Grouchy syndrom |
| Hemifacial microsomi |
| Hemihypertrofi |
| Hemofili A og Hemofili B |
| Hennekam syndrom |
| Hereditær nevropati |
| Hereditært angioneurotisk ødem |
| Holoprosencephali |
| Holt Oram syndrom |
| Hunter syndrom |
| Huntingtons sykdom |
| Hurler syndrom |
| Hyper IgE mangel |
| Hyper IgM syndrom |
| Hypochondroplasi |
| Hypofosfatasi |
| Hypofosfatemi |
| Hypofosfatemisk rakitt |
| Hypogammaglobulinemi |
| Hypoparathyreoidisme, medfødt |
| Hypopituitarisme, primær |
| IgA,IgG mangel |
| Immunsvikt, medfødt |
| Incontinentia pigmenti |
| Intestinal lymfangiectasi |
| Johanson-Blizzard syndrom |
| Joubert syndrom |
| Juvenil osteoporose |
| Kabuki syndrom |
| Klippel-Trènaunay-Weber syndrom |
| Kromosomavvik, strukturelle og numeriske |
| Kuldeindusert svettesyndrom |
| Landau- Kleffner syndrom |
| Langerhans celle histiocytose |
| Laurence-Moon-Bardet-Biedl syndrom(LMBB) |
| Lennox Gastaut syndrom |
| LEOPARD syndrom |
| Lesch-Nyhan syndrom |
| Leucocyttadhesjonsdefekt |
| Leukodystrofi |
| Limb Girdle syndrom |
| Lipodystrofi |
| Lissencephalii |
| Loeys-Dietz syndrom type 2B |
| Lymfangiom |
| Maple syrup urine disease(MSUD) |
| Marfan syndrom |
| Maxillo-nasal dysplasi(Binder syndrom) |
| Mb. Darier |
| Mb. Osler |
| McCune Albright |
| M-CMTC(macrocephaly-cutis marmorata) |
| MELAS syndrom(mitokondrie-encefalopati) |
| Melnick Needles syndrom |
| Menke syndrom |
| Migrasjonsforstyrrelse |
| Miller Dieker syndrom |
| Mitokondriemyopati |
| Morquio syndrom |
| Mucocutan candiasis, kronisk |
| Mucolipidose |
| Mucopolysaccaridose |
| Multiple endocrine neoplasia type 1(MEN-1) |
| Multiple idiopatiske cervikale rotresorpsjoner |
| Myasthenia gravis |
| Møbius sykdom |
| Nail-Patella syndrom |
| Nance Horan syndrom |
| Nekrotiserende vaskulitt |
| Neutropeni, cyklisk |
| Nevrofibromatose 2 |
| Nevronal ceroid lipofuscinose |
| Nieman-Pick syndrom |
| Noonan syndrom |
| Oculo-auriculo-vertebralt spectrum |
| Oculo-cerebro-renalt syndrom(Lowe syndrom) |
| Oculopharyngeal muskeldystrofi |
| Odho blefarofimose syndrom |
| Oesophagusatresi |
| Olivopontocerebellar atrofi (I-V) |
| Opitz syndrom |
| Orofacial granulomatose |
| Orofacialt digitalt syndrom(OFD) |
| Osteogenesis imperfecta(OI) |
| Osteopathia striata med cranial stenose |
| Pappilon-Lefevre syndrom |
| Pemphigus (alle varianter) |
| Pfeiffer syndrom |
| Pierre Robin sekvens |
| Plasminogen mangel type I |
| Polymyositt |
| Prader-Willi syndrom |
| Primær ciliedyskinesi |
| Primær oxalose |
| Proteus syndrom |
| Pseudoachondrodysplasi |
| Pseudohypoparathyreoidisme |
| Pseudopseudohypoparathyreoidisme |
| Rett syndrom |
| Rieger syndrom |
| Romberg syndrom |
| Rothmund-Thomson syndrom |
| Rubinstein-Taybi syndrom |
| Sanfilippo syndrom |
| SAPHO syndrom |
| Scapulo-humoral muskeldystrofi |
| Schimke immuno-ossøs dysplasi |
| Schinzel-Giedeon syndrom |
| Schizencefali |
| Seropositiv juvenil reumatoid artritt |
| Silver Russell syndrom |
| Sjøgren-Larsson syndrom |
| Sklerodermi |
| Smith-Magenis syndrom |
| Solitary median maxillary sentral incisor syndrome |
| Sotos syndrom/Cerebral gigantisme |
| Spastisk quadriplegi |
| Spinal muskelatrofi |
| Spondyloepifyseal/-metafyseal dysplasi |
| Sticklers syndrom |
| Stiff person syndrom |
| Sturge-Webers syndrom |
| Sætre-Chotzen syndrom |
| Thomsens myotoni |
| Treacher Collins syndrom |
| Tricho-dento-ossøst-syndrom |
| Tricho-rhino-phalangealt syndrom |
| Trigonocephali |
| Tuberøs sklerose |
| Tumoral calcinose |
| Usher syndrom |
| Velocardiofacialt syndrom |
| Von Hippel Lindau syndrom |
| Weaver syndrom |
| Wegeners granulomatose |
| West syndrom |
| Williams syndrom |
| Wolff-Hirschorns syndrom |
| Aagenæs syndrom |
| Aarskog syndrom |
