Stoornissen betreffende de van het mesenchym afkomstige steunweefsels

bindweefsel, been, kraakbeen, ligamenten, pezen, fascies en aponeurosen

Disorders of Collagen Biosynthesis and Structure:

1. Osteogenesis Imperfecta, type I
   
   Synoniemen: Osteogenesis Imperfecta Tarda; Osteogenesis Imperfecta with blue sclerae
   
   OMIM: 166200
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
2. Osteogenesis Imperfecta congenita; OIC
   
   Synoniemen: Osteogenesis Imperfecta Congenita, neonathal lethal form;   Osteogenesis Imperfecta Type II
   
   OMIM: 166210
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
3. Osteogenesis Imperfecta with opalescent teeth
   
   Synoniemen: Osteogenesis Imperfecta, Type I, with dentinogenesis imperfecta
   
   OMIM: 166240
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
4. Osteogenesis Imperfecta, type IV
   
   Synoniemen: Osteogenesis Imperfecta with normal sclerae
   
   OMIM: 166220
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
5. Osteogenesis Imperfecta, type III
   
   Synoniemen: Osteogenesis Imperfecta, progressively deforming, with normal sclerae
   
   OMIM: 259420
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
6. Osteogenesis Imperfecta with unusual skeletal lesions; Levin syndrome II
   
   OMIM: 166260
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteogenesis Imperfecta
   
   
    
7. COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN
   
   OMIM: 120150
   
   
    
8. COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN
   
   OMIM: 120160
   
   
    
9. Ehlers-Danlos syndrome, Type I; severe classic type
   
   OMIM: 130000
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Ehlers-Danloss syndrome
   
   Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
   
   Extra Informatie: Vereniging van Ehlers Danlos Patiënten
   
   
    
10. Ehlers-Danlos syndrome, Type II; mild classic type
    
    OMIM: 130010
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
11. Ehlers-Danlos syndrome, Type III;  ( benign hypermobility type )
    
    OMIM: 130020
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
12. Ehlers-Danlos syndrome, Type IV  ( autosomal dominant  )
    
    OMIM: 130050
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    GeneReviews: EDS Type IV
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
13. Ehlers-Danlos syndrome, Type V  ( X-Linked )
    
    OMIM: 305200
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
14. Ehlers-Danlos syndrome, Type VI  ( kyphoscoliosis type )
    
    OMIM: 245400
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
15. Ehlers-Danlos syndrome, Type VII ( due to deficiency of procollagen protease )
    
    OMIM: 245410
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
16. Ehlers-Danlos syndrome, Type VIII  ( with accompanying periodontosis )
    
    OMIM: 130080
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
17. Cutis Laxa, X-Linked  ( Formerly: Ehlers-Danlos syndrome, Type IX;  form with occipital horns )
    
    OMIM: 304150
    
    OMIM: Clinical Synopsis
    
    
     
18. Ehlers-Danlos syndrome, Type X ( abnormal fibronectin  )
    
    OMIM: 225310
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Ehlers-Danloss syndrome
    
    Who named it?: Edvard Lauritz Ehlers   ;  Henri-Alexandre Danlos
    
    Extra Informatie: Vereniging van Ehlers Danlos Patiënten
    
    
     
19. Familial Joint Laxity Syndrome  ( Formerly: Ehlers-Danlos syndrome, Type XI )
    
    OMIM: 147900
    
    OMIM: Clinical Synopsis
    
    
     
20. Achondrogenesis
    
    e-Medicine: Achondrogenesis
    
    
     
21. Stickler Syndrome type I  ( Membranous vittreous type )
    
    OMIM: 108300
    
    OMIM: Clinical Synopsis
    
    Who named it?: Gunnar B. Stickler
    
    Gene Reviews: Stickler Syndrome
    
    
     
22. Stickler Syndrome type II  ( Beaded vitreous type )
    
    OMIM: 604841
    
    OMIM: Clinical Synopsis
    
    Who named it?: Gunnar B. Stickler
    
    Gene Reviews: Stickler Syndrome
    
    
     
23. Stickler Syndrome type III  ( Nonocular type )
    
    OMIM: 184840
    
    OMIM: Clinical Synopsis
    
    Who named it?: Gunnar B. Stickler
    
    Gene Reviews: Stickler Syndrome
    
    
     
24. Alport syndrome, X-Linked
    
    OMIM: 301050
    
    OMIM: Clinical Synopsis
    
    e-Medicine: Alport Syndrome
    
    Who named it?: Arthur Cecil Alport
    
    GeneReviews: Alport Syndrome
    
    
     
25. Bethlem myopathy   ( benign congenital myopathy )
    
    OMIM: 158810
    
    OMIM: Clinical Synopsis
    
    
     
26. Spondyloepiphyseal Dysplasia ( X-Linked )
    
    OMIM: 313400
    
    OMIM: Clinical Synopsis
    
    GeneReviews: X-linked spondyloepiphyseal dysplasia tarda
    
    
     
27. Spondyloepiphyseal Dysplasia, Congenital
    
    OMIM: 183900
    
    OMIM: Clinical Synopsis
    
    
     
28. Achondrogenesis/Hypochondrogenesis Type II
    
    OMIM: 200610
    
    OMIM: Clinical Synopsis

Marfan Syndrome and Related Disorders:

1. Marfan Syndrome
   
   OMIM: 154700
   
   OMIM: Clinical Synopsis
   
   e-Medicine:  Marfan Syndrome
   
   GeneReviews: Marfan Syndrome
   
   Who named it?:  Antoine Bernard-Jean Marfan
   
   Extra informatie: Het syndroom van Marfan
   
   
    
2. Congenital Contractural Arachnodactyly;  Beals Syndrome
   
   OMIM: 121050
   
   OMIM: Clinical Synopsis
   
   
    
3. Mitral Valve Prolapse Syndrome and Annuloaortic Ectasia
   
   OMIM: 157100
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Mitral Valve Prolapse
   
   
   
    

Hypophosphatasia:

1. Infantile Hypophosphatasia
   
   OMIM: 241500
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hypophosphatasia
   
   
    
2. Hypophosphatasia, Adult type
   
   OMIM: 146300
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hypophosphatasia
   
   
    
3. Hypophosphatasia, childhood
   
   OMIM: 241510
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hypophosphatasia

The Carbonic Anhydrase II Deficiency Syndrome: Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification:

1. Carbonic Anhydrase II Deficiency Syndrome  ( Guibaud-Vainsel Syndrome )
   
   OMIM: 259730
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Osteopetrosis

Amyloidosis:

1. Amyloidosis
   
   MedicineNet:  Amyloidosis
   
   e-Medicine: Amyloidosis
   
   GeneReviews: Transthyretin (TTR) amyloidosis

Achondroplasia and Pseudoachondroplasia:

1. Achondroplasia
   
   OMIM: 100800
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Achondroplasia
   
   e-Medicine: Achondroplasia
   
   
    
2. Pseudoachondroplasia
   
   OMIM: 177170
   
   OMIM: Clinical Synopsis
    

Hoofdmenu

 

 

s