Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01825 Spondylometaphyseal dysplasia, Sedaghatian type
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06026 Glutathione biosynthesis
H01825 Spondylometaphyseal dysplasia, Sedaghatian type
Cellular process
nt06525 Ferroptosis
H01825 Spondylometaphyseal dysplasia, Sedaghatian type
Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE
Title
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
