Background and objective: Demarquay–van der Woude (DVWS) and Popliteal Pterygium (PPS) syndromes are two distinct autosomal dominant conditions generally presenting with cleft lip and/or cleft palate. Both syndromes are genetically associated with mutations of the gene coding for Interferon Regulatory Factor 6 (IRF6). In addition to a cleft, DVWS is characterized by the presence of two labial pits on the lower lip. The pits may be symmetrical or asymmetrical, with saliva draining from them, or may also be abnormally flabby or conical mucosal elevations without distinct pitting. In PPS the cleft patient commonly presents with an extensive single central lower lip pit with salivary drainage, as well as with popliteal webs/pterygia of the lower limb. Additional defects may include syndactyly and genito-urinary malformations.
Methods: One case with two family members were examined, presented with overlapping deformities associated with DVWS as well as with PPS.
Results: The surgical records of 3759 patients of a major cleft lip and palate clinic recorded that 66 (1.76%) patients were diagnosed with DVWS, 9 (0.24%) with PPS and one (0.03%) interlinked DVWS-PPS. All three affected individuals are females who have lip pits typically associated with DVWS that are both bilateral and symmetrical. The grandmother and the grandchild, but not the mother, has minor popliteal webs, bilateral and unilateral, respectively. All three have syndactyly of their feet with hypoplastic toe nails (involving one to three phalanges) and pyramidal-shaped (or redundant) skin above the hallux nail of the main phalanges.
Conclusion: The baby and her family group are identified as an interlinked DVWS–PPS.
Key words: cleft lip and Cleft palate; Demarquay–van der Woude; popliteal pterygium syndrome