Popliteal pterygium syndrome lethal type

Common Name(s)

Popliteal pterygium syndrome lethal type

Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) 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 {11:Mitchell et al., 2012}). A less severe form of popliteal pterygium syndrome ({119500}) is caused by mutation in the IRF6 gene ({607199}).
 

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Following organizations serve the condition "Popliteal pterygium syndrome lethal type" for support, advocacy or research.

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Scientific Literature

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