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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, matrilin-3 type

Spondyloepimetaphyseal dysplasia, matrilin-3 type

Synonyms
SEMD, MATN3-RELATED; Spondyloepimetaphyseal dysplasia Matrilin-3 related; Spondyloepimetaphyseal dysplasia, MATN3-related
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD, MATN3
    Summary: matrilin 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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