A case of facio-genito-popliteal syndrome.
Facio-genito-popliteal syndrome, or popliteal pterygium syndrome, is a very rare anomaly consisting of various combinations of facial deformities (cleft lip/palate, lip pits, syngnathia), popliteal pterygia, and genital deformities. We have found 56 cases previously recorded in the literature.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007717:Knee; D010641:Phenotype; D011625:Pterygium / Q000235:genetics*; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome