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Lethal Kniest-like dysplasia

Disease definition

Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.

ORPHA:2347

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q77.8
  • OMIM: 245190
  • UMLS: C1855605
  • MeSH: C537208
  • GARD: 3124
  • MedDRA: -

Additional information

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