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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Synonyms
SMED short limb-hand type; SMED type 2; SMED, TYPE II; SMED-SL/AC; Smed short limb-abnormal calcification type; Spondylometaepiphyseal dysplasia short limb-abnormal calcification type; Spondylometaepiphyseal dysplasia short limb-hand type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spondylometaepiphyseal dysplasia, short limb-hand type is an autosomal recessive disorder with clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years (Bargal et al., 2009). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MIG20a, NTRKR3, TKT, TYRO10, WRCN, DDR2
    Summary: discoidin domain receptor tyrosine kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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