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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, spondylodysplastic type, 2

Ehlers-Danlos syndrome, spondylodysplastic type, 2

Synonyms
Ehlers-Danlos syndrome, progeroid type, 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. [from OMIM]

Available tests

60 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6, B3GALT6
    Summary: beta-1,3-galactosyltransferase 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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