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NEK9-related lethal skeletal dysplasia

Disease definition

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Classification level: Disorder
  • Synonym(s):
    • Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q77.2
  • OMIM: 617022
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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