Diastrophic dysplasia
ICD-10 Q77.5 is a billable code used to indicate a diagnosis of diastrophic dysplasia.
Diastrophic dysplasia is a rare autosomal recessive skeletal dysplasia characterized by short stature, joint deformities, and specific malformations of the musculoskeletal system. Clinically, it presents with a variety of congenital malformations including clubfoot, scoliosis, and limb reduction defects. Patients often exhibit a characteristic hitchhiker's thumb, which is a result of joint laxity. The condition is caused by mutations in the SLC26A2 gene, which plays a crucial role in sulfate transport and cartilage development. Diagnosis is typically made through clinical evaluation, radiographic findings, and genetic testing. Management involves a multidisciplinary approach, including orthopedic interventions for deformities, physical therapy, and genetic counseling for affected families. Early intervention is essential to improve functional outcomes and quality of life for individuals with diastrophic dysplasia.
Detailed growth and development assessments, including physical examination findings related to musculoskeletal deformities.
Management of a child with diastrophic dysplasia presenting with clubfoot and scoliosis requiring orthopedic intervention.
Pediatric coders must ensure accurate representation of the child's growth parameters and any interventions performed.
Comprehensive family history, genetic testing results, and counseling notes.
Genetic counseling session for a family with a history of diastrophic dysplasia, discussing recurrence risks and management options.
Genetic coders should focus on the implications of genetic testing and the need for precise documentation of genetic findings.
Used in cases where orthopedic intervention is required for limb deformities associated with diastrophic dysplasia.
Detailed operative notes and pre-operative assessments.
Orthopedic specialists should ensure accurate coding of the procedure in relation to the diagnosis.
Common treatments include orthopedic interventions for deformities, physical therapy to improve mobility, and genetic counseling for affected families to discuss recurrence risks and management options.
