U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, spondylodysplastic type, 1

Ehlers-Danlos syndrome, spondylodysplastic type, 1

Synonyms
DERMATAN SULFATE PROTEOGLYCAN; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1; GALACTOSYLTRANSFERASE I DEFICIENCY; PDS, DEFECTIVE BIOSYNTHESIS OF; XGPT DEFICIENCY; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY

Summary

Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1, B4GALT7
    Summary: beta-1,4-galactosyltransferase 7

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.