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Metaphyseal anadysplasia

Disease definition

A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

ORPHA:1040

Classification level: Disorder
  • Synonym(s):
    • Maroteaux-Verloes-Stanescu syndrome
    • Regressive metaphyseal dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.5
  • OMIM: 602111  613073
  • UMLS: C0432226
  • MeSH: C537351
  • GARD: 3562
  • MedDRA: -

Detailed information

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