U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Vertebral, cardiac, tracheoesophageal, renal, and limb defects

Vertebral, cardiac, tracheoesophageal, renal, and limb defects

Synonyms
VCTERL SYNDROME

Summary

VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BUG13, CFAP90, FAP90, NPWBP, PPP1R165, SIPP1, VCTERL, VCTRL, WBP-11, WBP11
    Summary: WW domain binding protein 11

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.