Popliteal Pterygium Syndrome

Popliteal Pterygium syndrome (PPS) is classified by cleft lip, cleft palate and lip pits, as observed in its allelic disorder Van der Woude syndrome. In addition to the orofacial features, 90% of individuals with PPS have a popliteal web present and ~50% of patients have genital abnormalities. Toenail dysplasia, syndactyly of the toes and digits, and bony deformities also may be present.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Identification of a genetic basis for cleft lip/palate in a patient/family
  • Prenatal diagnosis in at-risk pregnancies


4 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs


  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 749.2 Cleft palate with cleft lip, Cheilopalatoschisis
  • 750.25 Congenital fistula of lip, Congenital (mucus) lip pits
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  1. Kondo, S. et al., (Letter) Nature Genet. 32: 285-89, 2002
  2. Peyrard-Janvid, M. et al., Eur J Human Genet. 13: 1261-7, 2005
  3. Kayano, S. et al., J Hum Genet. 48:662-628, 2003