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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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 PatiŽnten


     
  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
     

 

 

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