popliteal pterygium syndrome, lethal type(redirected from Bartsocas-Papas Syndrome)
Also found in: Acronyms.
popliteal pterygium syndrome, lethal typeAn autosomal recessive condition (OMIM:263650) characterised by multiple popliteal pterygia with severe arthrogryposis; ankyloblepharon filiforme adnatum; filiform bands between the jaws; synostosis of the carpal/tarsal and phalanges of the hands and feet; digital hypoplasia or aplasia; soft-tissue syndactyly; lack of nails; lack of scalp hair, eyebrows and eyelashes; blepharophimosis; cleft lip and/or palate; and hypoplastic external genitalia. Early death is common, though survival beyond childhood may occur.
Defects of RIPK4, which encodes a serine/threonine protein kinase, cause popliteal pterygium syndrome, lethal type.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.