Version: 8.0.0
Date: Tue Jan 28 2025
spondylometaphyseal dysplasia Algerian type
DOID:0112296
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

spondylometaphyseal dysplasia Algerian type

Definition
A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet.
Synonyms
  • spondylometaphyseal dysplasia with severe genu valgum
  • spondylometaphyseal dysplasia, Schmidt type
Cross References
Parent Terms
Child Terms
None
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