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

  • 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


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


  • 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
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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  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