U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Synonyms
Facial dysmorphism, immunodeficiency, livedo, and short stature
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRCS12, FILS, IMAGEI, POLE1, POLE
    Summary: DNA polymerase epsilon, catalytic subunit

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.