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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Strudwick type

Spondyloepimetaphyseal dysplasia, Strudwick type

Synonyms
Dappled metaphysis syndrome; SMED Strudwick type; SMED type 1; Strudwick syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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