Orphanet: Bone dysplasia, lethal Holmgren type
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Bone dysplasia, lethal Holmgren type

Disease definition

A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.

ORPHA:1842

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.8
  • OMIM: 211120
  • UMLS: C1859407
  • MeSH: -
  • GARD: 922
  • MedDRA: -

  A summary on this disease is available in Deutsch (2003) Español (2016) Français (2016) Italiano (2016) Nederlands (2016) Polski ()

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