Spondyloepiphyseal dysplasia

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The Spondyloepiphyseal dysplasia ( SED ) includes a group of rare or very rare to the chondrodysplasias counting skeletal dysplasias with changes in the vertebral body and the epiphysis of the long bones . The main characteristic is the disproportionate short stature .

Rö pelvic overview, 3 years old, male with SED

Classification

Main forms

The main forms are the

this also includes the SED Tarda type Byers and the SED Tarda type Kohn

Other forms

Other forms are:

  • SED with progressive arthropathy
  • SED type Cantu
  • SED type Kimberley
  • SED type Maroteaux (pseudo-Morquio syndrome type 2)
  • SED type Pakistani
  • SED type Reardon
  • Osteoarthritis, onset early, with mild spondyloepiphyseal dysplasia due to COL2A1 gene mutation

Syndromal forms

  • Bone dysplasia, immuno-osseous, Schimke type (spondyloepiphyseal dysplasia - nephrotic syndrome)
  • Roifman syndrome ( english Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome )
  • SED type MacDermot (spondyloepiphyseal dysplasia - myopia - sensorineural hearing loss)
  • SED type Nishimura (spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual disability)

Outdated

Obsolete name:

diagnosis

The clinical suspicion due to the disproportionate short stature with a short trunk and deformations of the extremities near the joints is confirmed by the changes in the X-ray image :

literature

Individual evidence

  1. Spondyloepiphyseal and spondyloepimetaphyseal dysplasia. In: Orphanet (Rare Disease Database).
  2. a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. Dysplasia, spondyloepiphyseal, congenital type. In: Orphanet (Rare Disease Database).
  4. Dysplasia, delayed spondyloepiphyseal. In: Orphanet (Rare Disease Database).
  5. Dysplasia, spondyloepiphyseal, delayed, Kohn type. In: Orphanet (Rare Disease Database).
  6. Arthropathy, progressive pseudorheumatoid, childhood. In: Orphanet (Rare Disease Database).
  7. Dysplasia, spondyloepiphyseal, Cantu type. In: Orphanet (Rare Disease Database).
  8. Dysplasia, spondyloepiphyseal, Kimberley type. In: Orphanet (Rare Disease Database).
  9. Dysplasia, spondyloepiphyseal, Maroteaux type. In: Orphanet (Rare Disease Database).
  10. ^ Dysplasia, spondyloepiphyseal, Pakistani type. In: Orphanet (Rare Disease Database).
  11. Dysplasia, spondyloepiphyseal, Reardon type. In: Orphanet (Rare Disease Database).
  12. Osteoarthritis, onset early, with mild spondyloepiphyseal dysplasia due to COL2A1 gene mutation. In: Orphanet (Rare Disease Database).
  13. Bone dysplasia, immuno-osseous, Schimke type. In: Orphanet (Rare Disease Database).
  14. Dysplasia, spondyloepiphyseal, MacDermot type. In: Orphanet (Rare Disease Database).
  15. Dysplasia, spondyloepiphyseal, Nishimura type. In: Orphanet (Rare Disease Database).
  16. Dysplasia, spondyloepiphyseal, Omani type. In: Orphanet (Rare Disease Database).
  17. ^ Orphanet CHST3-associated skeletal dysplasia

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