ICD10 code of Diastrophic Dysplasia and ICD9 code

Diastrophic dysplasia is classified under the ICD-10 code Q77.5 (Diastrophic dysplasia), while it is categorized under ICD-9 code 756.51 (Diastrophic dwarfism). These specific diagnostic codes are essential for medical billing, insurance authorization, and clinical documentation for individuals living with this rare skeletal condition.

What is the clinical nature of Diastrophic Dysplasia?

Diastrophic dysplasia is a rare form of osteochondrodysplasia characterized by short stature, severe joint contractures, and characteristic deformities of the hands and feet. The condition is caused by mutations in the SLC26A2 gene, which affects the development of cartilage and bone. For those navigating this diagnosis, understanding that diastrophic dysplasia requires a multidisciplinary approach—often involving orthopedic surgeons, physical therapists, and geneticists—is a vital first step in managing long-term health.

Is Diastrophic Dysplasia hereditary?

Yes, diastrophic dysplasia follows an autosomal recessive inheritance pattern. This means that an affected individual inherits one mutated copy of the SLC26A2 gene from each carrier parent. Because this is a genetic condition, families are encouraged to seek genetic counseling to understand the 25% recurrence risk for future pregnancies and to connect with others who have walked this path.

Common physical characteristics of Diastrophic Dysplasia

While the clinical presentation varies among the community, individuals with diastrophic dysplasia often experience the following features:

• Progressive scoliosis (curvature of the spine)


• "Hitchhiker’s thumb" (a characteristic deformity of the first digit)


• Clubfoot (talipes equinovarus) present at birth


• Cleft palate in approximately 25% of cases


• Deformed pinnae (cauliflower ears) due to cartilage calcification

Next steps

• Consult a pediatric orthopedic specialist familiar with skeletal dysplasias to manage joint contractures and spinal stability.


• Join the Diastrophic Dysplasia community on DiseaseMaps.org to connect with other families and share lived experiences.


• Request a referral to a clinical geneticist for formal testing and family planning support.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always consult with a qualified healthcare provider regarding your specific condition.

References

• NIH GARD: Diastrophic Dysplasia Overview


• Orphanet: ORPHA:237 - Diastrophic dysplasia


• OMIM: Online Mendelian Inheritance in Man: 222600