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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

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 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

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Imported from Human Phenotype Ontology (HPO)

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