Spondyloepimetaphyseal Dysplasia, Maroteaux Type

Alternative Names

  • Brachyolmia, Maroteaux Type
  • SED, Maroteaux Type
  • Pseudo-Morquio Syndrome, Type 2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

184095

Mode of Inheritance

Autosomal dominant

Gene Map Locus

12q24.11

Description

Spondyloepiphyseal dysplasia (SED) of Maroteaux is a very rare skeletal dysplasia. Disease manifestations are restricted to the musculoskeletal system and include abnormalities of the spine, epiphyses and metaphyses and multiple dislocations of the large joints. Spondylar dysplasia, epiphyseal dysplasia of the large joints, and type E-like brachydactyly are observed with SED Maroteaux type. These abnormalities result in a short-trunk disproportionate dwarfism. Also, dysmorphic features are noticed including a short and upturned nose with a depressed nasal bridge and midface hypoplasia.

Spondyloepiphyseal dysplasia (SED) Maroteaux type is inherited in an autosomal dominant pattern. It is associated with mutations in the TRPV4 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
184095.1LebanonFemaleNo Childhood-onset short-trunk short statur... NM_021625.5:c.2396C>THeterozygousAutosomal, DominantMegarbane et al. 2004; Nishimura et al. 2010
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