Popliteal pterygium syndrome, Bartsocas-Papas type
Alternate names[edit | edit source]
Bartsocas Papas syndrome; BPS; Pterygium popliteal lethal type; Popliteal pterygium syndrome lethal type; Multiple pterygium syndrome, Aslan type
Definition[edit | edit source]
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
NIH genetic and rare disease info[edit source]
Popliteal pterygium syndrome, Bartsocas-Papas type is a rare disease.
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