U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Tall stature-intellectual disability-renal anomalies syndrome

Tall stature-intellectual disability-renal anomalies syndrome

Synonyms
Thauvin-Robinet-Faivre syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: FGFIBP, FIBP-1, TROFAS, FIBP
    Summary: FGF1 intracellular binding protein

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.