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Bartsocas-Papas syndrome (Popliteal Pterygium syndrome, lethal type)

Bartsocas-Papas syndrome (Popliteal Pterygium syndrome, lethal type)

OMIM number: 263650

Comments closing date: 06/03/2019

Bartsocas-Papas syndrome is a lethal form of Popliteal Pterygium Syndrome. For most cases, it is fatal during pregnancy in the womb (intra-uterine death leading to stillbirth) or in the neonatal period, although occasional survival until childhood has been reported. It affects the development of the face (cleft lips and palate), the skin (webs of skin) and the genitals. The condition is rare 1:650 000. The parents are often related (consanguineous).

Review date: 6 February 2021