spondylometaphyseal dysplasia Sedaghatian type (DOID:0112298)
Alliance: disease page
Synonyms: congenital lethal metaphyseal chondrodysplasia; Sedaghatian chondrodysplasia; SMDS
Alt IDs: OMIM:250220, MESH:C535798, ORDO:93317, UMLS_CUI:C1855229
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.