Metaphyseal dysplasia

This code represents a group of rare genetic disorders characterized by abnormal bone development primarily affecting the metaphyses, the wide parts of the bone shaft adjacent to the growth plate. These dysplasias result in skeletal deformities, short stature, and sometimes other systemic manifestations due to defective cartilage and bone formation.

Use this code when documentation specifies a diagnosis of metaphyseal dysplasia, often identified through radiographic findings showing characteristic metaphyseal flaring, cupping, or irregular ossification. This code is appropriate for various forms, including but not limited to Pyle disease, metaphyseal chondrodysplasia, or other unspecified metaphyseal dysplasias.

• Ensure documentation clearly distinguishes metaphyseal dysplasia from epiphyseal or diaphyseal dysplasias.
• If a specific type of metaphyseal dysplasia is identified (e.g., Schmid type, Jansen type), use a more specific code if available within the Q78 category.
• Code any associated skeletal deformities or systemic manifestations separately, if applicable and documented.