Chondroectodermal dysplasia
ICD-10 Q77.6 is a billable code used to indicate a diagnosis of chondroectodermal dysplasia.
Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a rare genetic disorder characterized by a combination of skeletal dysplasia and ectodermal anomalies. Clinically, it presents with short stature, polydactyly, and dental abnormalities, alongside congenital heart defects in some cases. The condition arises from mutations in the EVC or EVC2 genes, which are crucial for normal skeletal development. Patients often exhibit limb reduction defects, particularly affecting the forearms and legs, and may also present with scoliosis or hip dysplasia. The musculoskeletal system is significantly impacted, leading to functional limitations and requiring multidisciplinary management. Early diagnosis and intervention are essential to address the associated complications and improve the quality of life for affected individuals.
Detailed growth and developmental assessments, including height, weight, and limb measurements.
Management of a child with chondroectodermal dysplasia presenting with limb deformities and scoliosis.
Consideration of growth patterns and potential orthopedic interventions.
Genetic testing results, family history, and counseling notes.
Genetic counseling for families with a history of chondroectodermal dysplasia.
Documentation of genetic mutations and their implications for family planning.
Routine follow-up for a child with chondroectodermal dysplasia.
Document growth parameters, developmental milestones, and any new concerns.
Pediatricians should focus on growth and developmental assessments.
Common complications include skeletal deformities, dental issues, and potential congenital heart defects. Regular monitoring and multidisciplinary care are essential to manage these complications effectively.
