Management Guidelines
No clinical practice guidelines for autosomal dominant craniometaphyseal dysplasia (AD-CMD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with AD-CMD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Autosomal Dominant Craniometaphyseal Dysplasia: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Respiratory feeding
problems in infancy | Referral for craniofacial team eval incl otolaryngologic eval | Incl eval for choanal stenosis
Skeletal hyperostosis
| • Radiographs of skull, hands, knees
CT to evaluate involvement of foramina foramen magnum
|
Cranial nerve
compression | Neurologic exam |
Otolaryngologic eval | To evaluate auditory system
Audiologic assessment | To evaluate for hearing loss
Ophthalmologic exam | To evaluate for vision loss
Endocrine / Bone
metabolism | • Measure serum phosphorus to assess for hypophosphatemia in infancy.
Assess for radiographic features of Rickets in infancy.
|
Measure blood alkaline phosphatase, P1NP, CTX | To evaluate bone turnover
Speech
| Eval by speech therapist | In early childhood; progressive hearing loss, facial palsy, hyperostosis can lead to speech issues.
Delayed eruption
Source: GeneReviews — "Autosomal Dominant Craniometaphyseal Dysplasia"
