U.S. flag

An official website of the United States government

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

Ehlers-Danlos syndrome, spondylocheirodysplastic type

Synonyms
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3; Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3) is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features (Giunta et al., 2008). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. [from OMIM]

Available tests

69 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (69 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDSSPD3, LZT-Hs9, SCDEDS, ZIP13, SLC39A13
    Summary: solute carrier family 39 member 13

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.