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GTR Home > Conditions/Phenotypes > Keutel syndrome

Keutel syndrome

Synonyms
Pulmonic stenosis brachytelephalangism and calcification of cartilages
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GIG36, MGLAP, NTI, MGP
    Summary: matrix Gla protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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