Bartsocas-Papas syndrome

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Bartsocas-Papas syndrome2016-11-24T21:14:30+00:00

Bartsocas-Papas syndrome 

PAEDIATRICS

An autosomal recessive (OMIM:263650) condition 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; survival beyond childhood may occur.

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

Synonyms Multiple pterygium syndrome—Aslan type, popliteal pterygium syndrome—lethal typePPS-L 

References http://www.omim.org/entry/263650

http://www.uniprot.org/uniprot/P57078

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