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GTR Home > Conditions/Phenotypes > Spondylometaphyseal dysplasia with corneal dystrophy

Spondylometaphyseal dysplasia with corneal dystrophy

Summary

Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: SMDCD, PLCB3
    Summary: phospholipase C beta 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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