U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Heart defect - tongue hamartoma - polysyndactyly syndrome

Heart defect - tongue hamartoma - polysyndactyly syndrome

Synonyms
Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome

Summary

A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. [from ORDO]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS15, C2orf86, CHDTHP, CPLANE5, FRITZ, FRTZ, WDPCP
    Summary: WD repeat containing planar cell polarity effector

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.