Short answer · Medically reviewed summary · Last updated: 2026-05-08
Oral-Facial-Digital Syndrome (OFDS) is a group of genetically heterogeneous disorders, and while it does not have a single dedicated ICD-10 or ICD-9 code, it is typically classified under Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) in ICD-10. Historically, under ICD-9, cases were often coded as 759.89 (Other specified congenital anomalies), reflecting the complex multisystem nature of Oral-Facial-Digital Syndrome. Why is there no single code for Oral-Facial-Digital Syndrome? Because Oral-Facial-Digital Syndrome represents a family of at least 18 distinct types (OFD1 through OFD18), they present with widely varying clinical features.
ICD10 code of Oral-Facial-Digital Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Oral-Facial-Digital Syndrome, with classification details for clinicians, coders and patients.
Oral-Facial-Digital Syndrome (OFDS) is a group of genetically heterogeneous disorders, and while it does not have a single dedicated ICD-10 or ICD-9 code, it is typically classified under Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) in ICD-10. Historically, under ICD-9, cases were often coded as 759.89 (Other specified congenital anomalies), reflecting the complex multisystem nature of Oral-Facial-Digital Syndrome.
Why is there no single code for Oral-Facial-Digital Syndrome?
Because Oral-Facial-Digital Syndrome represents a family of at least 18 distinct types (OFD1 through OFD18), they present with widely varying clinical features. Coding is often determined by the primary clinical manifestation at the time of encounter, such as specific clefting, renal abnormalities, or neurological findings. Clinicians frequently use the Q87.0 code for Oral-Facial-Digital Syndrome to capture the syndromic nature of the condition while supplementing it with specific codes for individual organ system involvement.
What are the primary clinical features of Oral-Facial-Digital Syndrome?
The clinical spectrum of Oral-Facial-Digital Syndrome is broad, but as the name suggests, it primarily affects the oral cavity, face, and digits. Common features observed in our community of 21 members include:
- Oral: Cleft lip/palate, tongue hamartomas, or supernumerary teeth.
- Facial: Hypertelorism, micrognathia, or frontal bossing.
- Digital: Brachydactyly, syndactyly, or polydactyly.
- Systemic: Renal cysts (most common in OFD1) and variable intellectual disability.
Is Oral-Facial-Digital Syndrome hereditary?
The inheritance pattern of Oral-Facial-Digital Syndrome depends on the specific subtype. For instance, the most common form, OFD1, is inherited in an X-linked dominant pattern and is generally lethal in males. Other forms of Oral-Facial-Digital Syndrome follow an autosomal recessive pattern. Genetic counseling is essential for families to understand the recurrence risks associated with their specific type of Oral-Facial-Digital Syndrome.
Next steps
- Consult with a clinical geneticist to confirm the specific subtype of Oral-Facial-Digital Syndrome via molecular testing.
- Connect with the 21 members of the DiseaseMaps.org community to share experiences and coping strategies.
- Ensure regular screenings for renal and neurological complications as recommended by your specialist team.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment.
References
- Orphanet: Oral-Facial-Digital Syndrome (ORPHA:653)
- NIH GARD: Oral-Facial-Digital Syndrome (GARD:7519)
- OMIM: Online Mendelian Inheritance in Man (Entry #311200)
- DiseaseMaps.org: Community data and patient resources
