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Greenberg dysplasia

Disease definition

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

ORPHA:1426

  • Synonym(s):
    • HEM dysplasia
    • Hydrops-ectopic calcification-motheaten syndrome
    • Skeletal dysplasia, Greenberg type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.3
  • OMIM: 215140
  • UMLS: C1300226  C2931048
  • MeSH: C537299
  • GARD: 8754
  • MedDRA: -
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