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GTR Home > Conditions/Phenotypes > Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita

Synonyms
SED congenita; Spondyloepiphyseal dysplasia, congenital type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990). [from OMIM]

Available tests

102 tests are in the database for this condition.

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Clinical tests (102 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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