Oculo Facio Cardio Dental Syndrome

Patients with OFCD present with congenital ocular defects (unilateral/bilateral microphthalmia with congenital cataracts or just with congenital cataracts alone), facial anomalies (narrow face with a broad nasal tip, separated nasal cartilage, cleft palate), congenital heart defects (septal defects), and skeletal anomalies. A unique and cardinal diagnostic feature is dental root radiculomegaly and other dental abnormalities. Mild mental retardation and conductive or sensorineural hearing loss are less common.

Tests Available

Forms and Documents

Test Details

BCOR
  • Confirmation of a clinical diagnosis
  • Mutation-specific testing of family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

3693
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 743 Congenital anomalies of eye
  • 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
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References

  1. 1) Hilton et al (2009) Eur J Hum Genet 1-11.
  2. 2) Horn et al (2005) Eur J Hum Genet 13: 563-569.
  3. 3) Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
  4. 4) Ng et al (2004) Nat Genet 36;4:411-416.