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Spondyloepiphyseal dysplasia Maroteaux type


Other Names for this Disease
  • Brachyolmia Maroteaux type
  • Brachyolmia type 2
  • SED, Maroteaux type
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Overview


Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes).[1] Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia.[2] SED Maroteaux type is caused by mutations in the TRPV4 gene and is inherited any an autosomal dominant fashion.[1]
Last updated: 7/8/2013

References

  1. Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T. . Am J Med Genet. 2003; http://www.ncbi.nlm.nih.gov/pubmed/?term=Spondyloepiphyseal+dysplasia+Maroteaux+type%5Bti%5D. Accessed 7/5/2013.
  2. Spondyloepiphyseal Dysplasia. Online Mendelian Inheritance in Man (OMIM). January, 2011; http://omim.org/entry/184095. Accessed 7/5/2013.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondyloepiphyseal dysplasia Maroteaux type. Click on the link to view a sample search on this topic.