Bartsocas-Papas syndrome

Bartsocas-Papas syndrome (BPS), also known as lethal popliteal pterygium syndrome, is a severe autosomal recessive disorder characterized by extensive popliteal pterygia (webbing behind the knees), severe orofacial clefting, and limb anomalies. It is considered the most severe form within the popliteal pterygium spectrum of disorders. The condition is typically lethal in the neonatal period or shortly after birth, though rare survivors have been reported with significant disability. The syndrome affects multiple body systems. Craniofacial features include bilateral cleft lip and palate, absent or rudimentary nose, ankyloblepharon (fusion of the eyelids), and hypoplastic or absent external ears. Limb abnormalities are prominent and include syndactyly (fused fingers or toes), oligodactyly (fewer than normal digits), absent or hypoplastic nails, and severe popliteal and antecubital pterygia that restrict joint movement. Genital anomalies, including ambiguous genitalia, are frequently observed. The skin may show aplasia cutis or ichthyosis-like changes. Some affected individuals also have ectodermal abnormalities including sparse or absent hair. Bartsocas-Papas syndrome has been linked to mutations in the RIPK4 gene (receptor-interacting serine/threonine-protein kinase 4), which plays a critical role in epidermal differentiation and keratinocyte development. There is no curative treatment for this condition. Management is supportive and palliative, focusing on airway management, feeding support, and surgical intervention for clefts and pterygia in the rare cases where survival permits. Genetic counseling is recommended for affected families, as carrier parents have a 25% recurrence risk with each pregnancy.

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