Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:1426

Greenberg dysplasia

Also called HEM dysplasia, Hydrops-ectopic calcification-motheaten syndrome, Skeletal dysplasia, Greenberg type

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Antenatal, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:1426 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Platyspondyly
  • Lymphedema
  • Brachydactyly
  • Abnormal leukocyte morphology
  • Micromelia
  • Abnormal form of the vertebral bodies