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GTR Home > Conditions/Phenotypes > Spondylometaphyseal dysplasia, Sedaghatian type

Spondylometaphyseal dysplasia, Sedaghatian type

Synonyms
Lethal metaphyseal dysplasia; METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL; SEDAGHATIAN CHONDRODYSPLASIA
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx, GPX4
    Summary: glutathione peroxidase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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