Oral-Facial-Digital syndrome Type 1

At least nine distinct forms of Oral-Facial-Digital syndromes have been described. The X-linked dominant Oral-Facial-Digital syndrome type 1 (OFD1) is the most common and has an estimated prevalence of 1/50,000 – 1/250,000. OFD1 is characterized by malformations of the oral cavity, face and digits in heterozygous females and lethality in hemizygous (46, XY) males. The only affected male reported to survive after birth had Klinefelter syndrome (47, XXY). Approximately 75% of females with OFD1 have no family history. Oral abnormalities include: clefting of the hard or soft palate, median or pseudocleft of the upper lip, tongue hamartomas or lipomas, tongue clefts, hypodontia and other dental abnormalities. Facial dysmorphic features include: hypertelorism, frontal bossing, broad nasal bridge, micrognathia, facial milia and hypoplasia of the alae nasi. Digital abnormalities affect the hands more often than the feet and include: brachydactyly, syndactyly, fifth-finger clinodactyly, pre- and postaxial polydactyly. Adult-onset polycystic kidney disease (PKD) leading to renal failure is a distinct feature of OFD type 1, and can often be the presenting feature in females with a mild phenotype. Central nervous system involvement includes brain malformations such as agenesis of the corpus callosum, hydrocephaly, porencephaly, cerebellar abnormalities and intracerebral cysts. Additionally, individuals with OFD1 have varying degrees of mental retardation.

Tests Available

Forms and Documents

Test Details

OFD1 (CXORF5)
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3642
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
  2. Thauvin-Robinet, C. et al. 2006. J Med Genet. 43:54- 61
  3. Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
  4. Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
  5. Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182

Forms and Documents

Test Details

OFD1 (CXORF5)
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Identify females that are at risk for PKD to allow for appropriate screening and treatment
  • Differentiation from other types of OFD
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3641
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 749.1 Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749 Cleft palate and cleft lip
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Nowaczyk, M. et al. 2003. Am J Med Genet. 123A:179-182
  2. Prattichizzo, C. et al. 2008. Hum Mutat. 29(10):1237-1246
  3. Ferrante, M. et al. 2001. Am J Hum Genet. 68:569-576
  4. Thauvin-Robinet, C. et al. 2008. Hum Mutat Online. 29:E320-329
  5. Thauvin-Robinet, C. et al. 2006. J Med Genet. 43:54- 61