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GTR Home > Conditions/Phenotypes > Bartsocas-Papas syndrome 1

Bartsocas-Papas syndrome 1

Synonyms
Bartsocas-Papas syndrome; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE; PTERYGIUM, POPLITEAL, LETHAL TYPE; Popliteal pterygium syndrome lethal type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4, RIPK4
    Summary: receptor interacting serine/threonine kinase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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