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GTR Home > Conditions/Phenotypes > Bartsocas-Papas syndrome 2

Bartsocas-Papas syndrome 2

Synonyms
POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 2

Summary

Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16, CHUK
    Summary: component of inhibitor of nuclear factor kappa B kinase complex

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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