Spondyloepiphyseal dysplasia Maroteaux type

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

The Maroteaux-type spondyloepiphyseal dysplasia is a very rare congenital form of the spondyloepiphyseal dysplasia with changes limited to the musculoskeletal system , with short stature beginning in infancy , scoliosis , genu valgum and osteoporosis .

Synonyms are: SED type Maroteaux; Pseudo-Morquio syndrome II; Pseudo-Morquio syndrome type 2; Brachyolmia Maroteaux type; Brachyolmia type 2

The name was suggested by the authors of the first description from 1990, French pediatricians AN Doman, P. Maroteaux , ED Lyne.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 10 people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in TRPV4 - gene on chromosome 12 locus q24.11 based, which for the ion channel encoded protein Transient receptor potential cation channel subfamily V member. 4

Mutations in this gene are also found in parastrematic dysplasia .

Clinical manifestations

Clinical criteria are:

literature

  • G. Nishimura, J. Dai, E. Lausch, S. Unger, A. Megarbané, H. Kitoh, OH Kim, TJ Cho, F. Bedeschi, F. Benedicenti, R. Mendoza-Londono, M. Silengo, M. Schmidt-Rimpler, J. Spranger, B. Zabel, S. Ikegawa, A. Superti-Furga: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. In: American journal of medical genetics. Part A. Volume 152A, Number 6, June 2010, pp. 1443-1449, doi: 10.1002 / ajmg.a.33414 , PMID 20503319 .

Individual evidence

  1. ↑ a b c Dysplasia, spondyloepiphyseal, Maroteaux type. In: Orphanet (Rare Disease Database).
  2. ↑ Spondyloepiphyseal Dysplasia on Medscape December 11, 2017, accessed March 16, 2018.
  3. ↑ TO Doman, P. Maroteaux, ED Lyne: Spondyloepiphyseal dysplasia of Maroteaux. In: The Journal of bone and joint surgery. American volume. Volume 72, Number 9, October 1990, pp. 1364-1369, PMID 2229114 .
  4. ^ SED, Maroteaux type.  In: Online Mendelian Inheritance in Man . (English)

Web links