popliteal pterygium syndrome, lethal type

popliteal pterygium syndrome, lethal type

An 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.

Molecular pathology
Defects of RIPK4, which encodes a serine/threonine protein kinase, cause popliteal pterygium syndrome, lethal type.

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