Orphanet: Spondyloepimetaphyseal dysplasia, Missouri type
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Spondyloepimetaphyseal dysplasia, Missouri type

Disease definition

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

ORPHA:93356

Classification level: Disorder
  • Synonym(s):
    • SEMD type 2
    • SEMD, Missouri type
    • Spondyloepimetaphyseal dysplasia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 602111
  • UMLS: C1865832
  • MeSH: -
  • GARD: 10618
  • MedDRA: -

Summary

Epidemiology

The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.

Clinical description

Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted.

Etiology

This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.

- Last update: November 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.