The popliteal pterygium syndrome is characterized by multiple anomalie
s of the face, genito-urinary system and extremities with autosomal do
minant inheritance with variable expression. Also sporadic cases proba
bly based upon spontaneous mutation can be recognized. The plastic, or
thopaedic, and maxillofacial surgeon should be aware of the variable n
ature of the syndrome and should consult a medical geneticist. A coord
inated team approach appears to be most adequate for diagnosis, counse
lling and treatment.