Orphanet: Brachyolmia, Maroteaux type
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Brachyolmia, Maroteaux type

Disease definition

A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.

ORPHA:93302

Classification level: Disorder
  • Synonym(s):
    • Brachyolmia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 613678
  • UMLS: C3159322
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Polski ()

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