Management Guidelines
No clinical practice management guidelines for Schmid metaphyseal chondrodysplasia (SMCD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Management should emphasize multidisciplinary care and a considered approach to surgical intervention when appropriate.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SMCD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 5.
Schmid Metaphyseal Chondrodysplasia: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Growth assessment | Consider referral to nutritionist if needed for weight mgmt.
Musculoskeletal
| Complete radiographic skeletal survey incl lateral spine radiographs | To assess extent of skeletal malformations evaluate for lumbar lordosis scoliosis
Orthopedic consultation | Eval by specialist experienced in skeletal dysplasia if possible
Functional pain assessment | Consider:
Qualification of functional limitations/ activities of daily living;
Referral to PT /or OT.
Psychosocial
| • Assessment for adaptive needs due to short stature
Referral to support resources
| Environmental modifications to accommodate short stature may be needed, such as:
Source: GeneReviews — "Schmid Metaphyseal Chondrodysplasia"
