spondylometaphyseal dysplasia Sedaghatian type

Term ID

DOID:0112298

Synonyms

• congenital lethal metaphyseal chondrodysplasia
• Sedaghatian chondrodysplasia
• SMDS

Definition

A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/24706940/

References

• GARD:4993
• MESH:C535798
• OMIM:250220
• ORDO:93317
• UMLS_CUI:C1855229

Ontology

Human Disease   ( DOID:0112298 )