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Spondyloepimetaphyseal dysplasia, Irapa type

Disease definition

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

ORPHA:93351

Classification level: Disorder
  • Synonym(s):
    • SEMD, Irapa type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 271650
  • UMLS: C0432213
  • MeSH: C562958
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three sibs from a Mexican mestizo family.

Etiology

Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

- 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

Specialised Social Services

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.