Short answer · Medically reviewed summary · Last updated: 2026-05-08
Spondyloepiphyseal dysplasia tarda (SEDT) is classified under the ICD-10 code Q77.7 (Spondyloephiphyseal dysplasia) and the ICD-9 code 756.51 (Spondyloepiphyseal dysplasia). These diagnostic codes are used for medical billing and clinical documentation to identify this specific skeletal disorder characterized by late-onset spinal and epiphyseal changes. What is Spondyloepiphyseal dysplasia tarda? Spondyloepiphyseal dysplasia tarda is a rare genetic skeletal disorder that typically presents in mid-childhood or adolescence.
ICD10 code of Spondyloepiphyseal Dysplasia Tarda and ICD9 code
ICD-10 and ICD-9 codes for Spondyloepiphyseal Dysplasia Tarda, with classification details for clinicians, coders and patients.
Spondyloepiphyseal dysplasia tarda (SEDT) is classified under the ICD-10 code Q77.7 (Spondyloephiphyseal dysplasia) and the ICD-9 code 756.51 (Spondyloepiphyseal dysplasia). These diagnostic codes are used for medical billing and clinical documentation to identify this specific skeletal disorder characterized by late-onset spinal and epiphyseal changes.
What is Spondyloepiphyseal dysplasia tarda?
Spondyloepiphyseal dysplasia tarda is a rare genetic skeletal disorder that typically presents in mid-childhood or adolescence. Unlike congenital forms, Spondyloepiphyseal dysplasia tarda involves progressive changes to the spine and the ends of long bones, often leading to disproportionate short stature and early-onset osteoarthritis. At DiseaseMaps.org, we currently support a community of 11 individuals living with Spondyloepiphyseal dysplasia tarda, providing a space for shared experiences regarding these specific orthopedic challenges.
How is Spondyloepiphyseal dysplasia tarda inherited?
The most common form, X-linked Spondyloepiphyseal dysplasia tarda, is caused by mutations in the TRAPPC2 gene. Because it follows an X-linked recessive pattern of inheritance, it primarily affects males, although female carriers may occasionally exhibit milder skeletal features. Understanding the genetic basis of Spondyloepiphyseal dysplasia tarda is critical for family planning and early clinical monitoring.
What are the clinical features of Spondyloepiphyseal dysplasia tarda?
Patients with Spondyloepiphyseal dysplasia tarda often experience symptoms that evolve as they age, requiring long-term orthopedic management. Common clinical observations include:
- Progressive back pain starting in childhood or adolescence.
- Shortened trunk height relative to limb length.
- Radiographic findings of "platyspondyly" (flattened vertebral bodies) with central humps.
- Early-onset degenerative joint disease, particularly in the hips and shoulders.
- Restricted range of motion in major joints.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis via molecular genetic testing.
- Schedule regular evaluations with a pediatric or adult orthopedist specializing in skeletal dysplasias.
- Connect with the 11 community members at DiseaseMaps.org to share management strategies for chronic joint pain.
- Discuss physical therapy options to maintain joint mobility and muscle strength.
Medical disclaimer: This content is for informational purposes only and does not substitute professional medical advice, diagnosis, or treatment; always consult with your healthcare provider regarding your specific condition.
References
- Orphanet: Orphanet ID ORPHA:85455 (Spondyloepiphyseal dysplasia tarda).
- NIH GARD: Genetic and Rare Diseases Information Center entry for Spondyloepiphyseal dysplasia tarda.
- OMIM: Online Mendelian Inheritance in Man, entry #313000 (Spondyloepiphyseal dysplasia tarda).
- DiseaseMaps.org: Community patient data and support platform for rare disease advocacy.
