spondylometaphyseal dysplasia Algerian type

Term ID

DOID:0112296

Synonyms

• spondylometaphyseal dysplasia with severe genu valgum
• spondylometaphyseal dysplasia, Schmidt 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. https://pubmed.ncbi.nlm.nih.gov/3368247/

References

• GARD:504
• MESH:C535794
• OMIM:184253
• ORDO:93316
• SNOMEDCT_US_2023_03_01:719304005
• UMLS_CUI:C1866688

Ontology

Human Disease   ( DOID:0112296 )