Metaphyseal dysplasia
ICD-10 Q78.5 is a billable code used to indicate a diagnosis of metaphyseal dysplasia.
Metaphyseal dysplasia is a rare congenital disorder characterized by abnormal development of the metaphysis, the region of long bones where growth occurs. This condition can lead to a variety of skeletal abnormalities, including short stature, limb deformities, and joint problems. Patients may present with bowing of the legs, scoliosis, or other musculoskeletal deformities. The condition is often diagnosed through radiographic imaging, which reveals characteristic changes in the metaphyseal regions of the bones. Metaphyseal dysplasia can be associated with other congenital malformations and may require multidisciplinary management, including orthopedic intervention and genetic counseling. The etiology of metaphyseal dysplasia can be linked to genetic mutations, and it is essential for healthcare providers to consider the potential for associated chromosomal abnormalities when evaluating affected individuals.
Detailed growth and development assessments, including height and weight measurements, and descriptions of any musculoskeletal deformities.
A pediatric patient presents with limb deformities and is referred for orthopedic evaluation; genetic testing is considered due to family history.
Pediatric coders must ensure that all congenital conditions are documented, including any associated syndromes or malformations.
Genetic testing results, family history of congenital conditions, and detailed descriptions of any chromosomal abnormalities.
A child with metaphyseal dysplasia undergoes genetic counseling to assess the risk of recurrence in future pregnancies.
Genetic coders should be aware of the implications of genetic findings on the management of congenital conditions.
Used for follow-up visits in patients with metaphyseal dysplasia.
Documentation of clinical findings, treatment plan, and any referrals made.
Pediatricians should ensure that growth parameters are documented.
Used to assess skeletal abnormalities in patients with suspected dysplasia.
Radiology reports must be included in the medical record.
Orthopedic specialists should correlate imaging findings with clinical presentation.
Metaphyseal dysplasia is a congenital condition characterized by abnormal bone growth at the metaphysis, leading to skeletal deformities and potential associated congenital malformations.
Diagnosis is typically made through clinical evaluation, radiographic imaging, and may be supported by genetic testing to identify underlying genetic mutations.
