Progressive diaphyseal dysplasia
ICD-10 Q78.3 is a billable code used to indicate a diagnosis of progressive diaphyseal dysplasia.
Progressive diaphyseal dysplasia (PDD) is a rare genetic disorder characterized by progressive thickening of the diaphysis of long bones, leading to skeletal deformities and potential functional impairment. This condition typically manifests in early childhood and is associated with a range of musculoskeletal anomalies, including limb shortening, joint deformities, and in some cases, scoliosis. The pathophysiology of PDD involves mutations in the genes responsible for bone development and remodeling, which can lead to abnormal ossification patterns. Clinically, patients may present with pain, limited mobility, and an increased risk of fractures due to the abnormal bone structure. Diagnosis is often confirmed through imaging studies, such as X-rays or MRIs, which reveal characteristic changes in bone density and morphology. Genetic testing may also be utilized to identify specific mutations associated with the disorder. Management typically involves a multidisciplinary approach, including orthopedic interventions, physical therapy, and regular monitoring to address the evolving nature of the condition.
Detailed growth and development assessments, including physical examinations and imaging results.
A pediatric patient presenting with limb deformities and pain, requiring orthopedic evaluation and management.
Ensure accurate recording of all musculoskeletal anomalies and their impact on the child's daily activities.
Genetic test results, family history of skeletal disorders, and any relevant genetic counseling notes.
A child with a family history of skeletal dysplasia undergoing genetic testing to confirm diagnosis.
Document the specific genetic mutations identified and their implications for treatment and family planning.
Used for follow-up visits in patients with PDD requiring ongoing management.
Document the patient's history, examination findings, and treatment plan.
Pediatric specialists should ensure comprehensive documentation of growth and development.
Key features include progressive thickening of long bone diaphyses, skeletal deformities, and potential functional impairment. Diagnosis is confirmed through imaging and genetic testing.
