Congenital spondyloepiphyseal dysplasia

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

The Congenital Spondyloepiphyseal dysplasia is a rare form of a Spondyloepiphysären dysplasia , a skeletal dysplasia with changes in the vertebral body and the epiphysis of the long bones .

Synonyms are: spondyloepiphyseal dysplasia, congenital form , SEDC ; Type Spranger-Wiedemann ; SED congenital type; English Spranger-Wiedemann disease

It was first described in 1966 by the German paediatricians Jürgen W. Spranger (* 1931) and Hans-Rudolf Wiedemann (* 1915).


The frequency is given as about 1 in 100,000, inheritance is autosomal dominant . Most diseases occur sporadically.

root cause

The disease is based on mutations in the COL2A1 gene at location 12q13.11-q13.2, which codes for the formation of cartilage collagen (collagen type II). Congenital spondyloepiphyseal dysplasia can be caused by various mutations in the COL2A1 gene. These mutations can result in an incorrect substitution of an amino acid in the pro-alpha1 (II) chain, resulting in the production of an abnormally shortened pro-alpha1 (II) chain.

Clinical manifestations

Clinical criteria are:

There may be instability of the upper cervical spine .

Associated are frequent cleft lip and palate , deafness , myopia , hypertelorism , cataract or clubfoot .


The clinical suspicion is confirmed by the changes in the X-ray image :

  • Vertebral bodies, severely flattened and deformed in the shape of a tongue, decreased in height
  • Broadening and deformation of the epiphyses in normal diaphyses of the long tubular bones
  • Flattened pan roof, delayed head core formation, pear-shaped deformed femoral head
  • Massive coxa vara, femoral neck reminiscent of pseudarthrosis , elevated trochanteric position
  • Hypoplasia of the dens with risk of atlantoaxial instability

The disease can already be suspected in the womb by means of fine ultrasound .


Neurosurgical intervention may be required because of the possible instability of the upper cervical spine .


  • PA Terhal, RJ Nievelstein, EJ Verver, V. Topsakal, P. van Dommelen, K. Hoornaert, M. Le Merrer, A. Zankl, ME Simon, SF Smithson, C. Marcelis, B. Kerr, J. Clayton-Smith , E. Kinning, S. Mansour, F. Elmslie, L. Goodwin, AH van der Hout, HE Veenstra-Knol, JC Herkert, AM Lund, RC Hennekam, A. Mégarbané, MM Lees, LC Wilson, A. Male, J. Hurst, Y. Alanay, G. Annerén, RC Betz, EM Bongers, V. Cormier-Daire, A. Dieux, A. David, MW Elting, J. van den Ende, A. Green, JM van Hagen, NT Hertel, M. Holder-Espinasse, N. den Hollander, T. Homfray, HD Hove, S. Price, A. Raas-Rothschild, M. Rohrbach, B. Schroeter, M. Suri, EM Thompson, ES Tobias, A. Toutain, M. Vreeburg, E. Wakeling, NV Knoers, P. Coucke, GR Mortier: A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. In: American journal of medical genetics. Part A. Vol. 167A, No. 3, March 2015, pp. 461-475, doi: 10.1002 / ajmg.a.36922 , PMID 25604898 .
  • JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .

Individual evidence

  1. a b c d Dysplasia, spondyloepiphyseal, congenital type. 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. JW Spranger, H.-R. Wiedemann: Dysplasia spondyloepiphysaria congenita. In: Helvetica Paediatrica Acta Vol. 21, pp. 598-611, 1966.
  4. a b c F. Hefti: Pediatric orthopedics in practice. Springer 1998, ISBN 3-540-61480-X .
  5. ^ SED congenita.  In: Online Mendelian Inheritance in Man . (English)
  6. LS Chitty, AW Tan, DL Nesbit, CM Hall, CH Rodeck: Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia - a report of six pregnancies. In: Prenatal diagnosis. Vol. 26, No. 9, September 2006, pp. 861-865, doi: 10.1002 / pd.1525 , PMID 16874841 .
  7. A. Veeravagu, SP Lad, JQ Camara-Quintana, B. Jiang, L. Shuer: Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. In: World neurosurgery. Vol. 80, No. 3–4, 2013 Sep-Oct, pp. 437.e1–437.e8, doi: 10.1016 / j.wneu.2012.01.030 , PMID 22381876 .

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