Chondroectodermal dysplasia

This code represents Ellis-van Creveld syndrome, a rare genetic disorder characterized by short-limbed dwarfism, polydactyly (extra fingers or toes), and congenital heart defects. Individuals often present with nail dysplasia, dental abnormalities, and a narrow chest.

Use this code when documentation explicitly states a diagnosis of chondroectodermal dysplasia or Ellis-van Creveld syndrome. This code is appropriate for initial diagnosis, ongoing management, and follow-up care for patients with this confirmed genetic condition. Supporting documentation includes genetic testing results, clinical examination findings, and imaging reports detailing skeletal and cardiac anomalies.

• Do not confuse this with other forms of skeletal dysplasia; ensure the documentation specifically points to chondroectodermal dysplasia.
• Code all associated congenital anomalies, such as cardiac defects (e.g., atrial septal defect), polydactyly, and dental abnormalities, as secondary diagnoses.
• Review genetic testing reports or clinical notes confirming the specific diagnosis to avoid miscoding.