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GTR Home > Conditions/Phenotypes > Jackson-Weiss syndrome

Jackson-Weiss syndrome

Synonyms
Craniosynostosis, midfacial hypoplasia, and foot abnormalities
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001). [from OMIM]

Available tests

85 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (85 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1, FGFR1
    Summary: fibroblast growth factor receptor 1

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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