Orphanet: Microcephalic osteodysplastic primordial dwarfism type II

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Microcephalic osteodysplastic primordial dwarfism type II

Disease definition

A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


Classification level: Disorder
  • Synonym(s):
    • MOPD type II
    • Majewski osteodysplastic primordial dwarfism type II
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 210720
  • UMLS: C0432246
  • MeSH: -
  • GARD: 9844
  • MedDRA: -
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