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OSMED, Heterozygous

Abstract

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NORD is very grateful to Miia Melkoniemi, MD, University of Helsinki, Finland, for assistance in the preparation of this report.

Synonyms of OSMED, Heterozygous

  • Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant
  • Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous
  • Pierre-Robin Syndrome with Fetal Chondrodysplasia
  • Stickler Syndrome Type III
  • Weissenbacher-Zweymuller Syndrome
  • WZS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Heterozygous OSMED (oto-spondyl-megaepiphyseal dysplasia) is a rare genetic disorder characterized by skeletal malformations resulting in shortening of the upper limbs and thighs and short stature (rhizomelic dwarfism). Additional symptoms include distinctive facial features and delays in psychomotor development. After the initial period of growth deficiency, affected individuals experience gradual improvement in bone growth that leads to normal physical development by early childhood. Mental and motor development is also normal by early childhood. In some cases, affected individuals develop hearing loss. Heterozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene.

A group of collagen disorders (i.e., OSMED, Weissenbacher-Zweymuller syndrome and non-ocular Stickler syndrome or Stickler syndrome type III) are all caused by mutations to the COL11A2 gene (allelic disorders). Some researchers consider these three disorders separate entities; others believe that they are the same disorder or different expresses of one disorder. Recently, some researchers have suggested that the name OSMED be used as a general heading to consist of "heterozygous OSMED," which encompasses Weissenbacher-Zweymuller syndrome and Stickler syndrome type III and is inherited as an autosomal dominant trait and "homozygous OSMED," which encompasses autosomal recessive cases of oto-spondylo-megaepiphyseal dysplasia.

OSMED, Heterozygous Resources

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