Van der Woude Syndrome

Van der Woude syndrome consists of clefting of the lip, palate, or both. Lip pits are seen in 80% of patients, and mucous cysts of the lower lip also may be observed, although they occur less frequently. The disorder is variable, and affected family members often show diverse phenotypic expression. Hypodontia may be present, and individuals may be missing central and lateral incisors, canines and/or bicuspids.

Tests Available

Forms and Documents

Test Details

IRF6
  • Confirmation of a clinical diagnosis
  • Identification of a genetic basis for cleft lip/palate in a patient/family
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

253
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 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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References

  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