Short answer · Medically reviewed summary · Last updated: 2026-05-08
Oculo-Dento-Digital Dysplasia (ODDD) is classified under the ICD-10 code Q87.0, which covers congenital malformation syndromes predominantly affecting facial appearance. While ICD-9 codes are largely retired, Oculo-Dento-Digital Dysplasia was historically categorized under 759.89 (other specified congenital anomalies). What is Oculo-Dento-Digital Dysplasia? Oculo-Dento-Digital Dysplasia is a rare genetic disorder characterized by distinctive facial features, dental abnormalities, and limb malformations.
ICD10 code of Oculo-Dento-Digital Dysplasia and ICD9 code
ICD-10 and ICD-9 codes for Oculo-Dento-Digital Dysplasia, with classification details for clinicians, coders and patients.
Oculo-Dento-Digital Dysplasia (ODDD) is classified under the ICD-10 code Q87.0, which covers congenital malformation syndromes predominantly affecting facial appearance. While ICD-9 codes are largely retired, Oculo-Dento-Digital Dysplasia was historically categorized under 759.89 (other specified congenital anomalies).
What is Oculo-Dento-Digital Dysplasia?
Oculo-Dento-Digital Dysplasia is a rare genetic disorder characterized by distinctive facial features, dental abnormalities, and limb malformations. This condition is caused by mutations in the GJA1 gene, which encodes the protein connexin 43, essential for cell-to-cell communication. At DiseaseMaps.org, we currently support a small but growing community of individuals navigating the complexities of Oculo-Dento-Digital Dysplasia, helping them connect and share experiences.
How is Oculo-Dento-Digital Dysplasia inherited?
Oculo-Dento-Digital Dysplasia is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated GJA1 gene is sufficient to cause the condition. However, sporadic cases caused by *de novo* mutations have been reported. Clinical geneticists emphasize that because Oculo-Dento-Digital Dysplasia has variable expressivity, even within the same family, physical presentations can range from mild to severe.
What are the primary clinical features?
The diagnosis of Oculo-Dento-Digital Dysplasia is usually clinical, supported by molecular genetic testing. Common manifestations include:
- Ocular: Microphthalmia (small eyes), microcornea, and glaucoma.
- Dental: Microdontia (small teeth), enamel hypoplasia, and premature tooth loss.
- Digital: Syndactyly (webbed fingers/toes), camptodactyly, and hypoplasia of the middle phalanges.
- Neurological: Potential for spastic paraparesis or white matter changes in the brain.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis of Oculo-Dento-Digital Dysplasia through GJA1 sequencing.
- Schedule regular screenings with an ophthalmologist and a pediatric dentist familiar with rare craniofacial syndromes.
- Connect with the community at DiseaseMaps.org to share insights with others living with Oculo-Dento-Digital Dysplasia.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Oculo-dento-digital dysplasia.
- Orphanet: Oculo-dento-digital syndrome (ORPHA:650).
- OMIM (Online Mendelian Inheritance in Man): Oculo-Dento-Digital Dysplasia (Entry #164200).
- National Library of Medicine (PubMed): Clinical reviews on GJA1-related disorders.
