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