Rare disorders of calcium-phosphorus metabolism or dental mineralisation

Criteria before considering a discussion in MDM-FMG

As a prerequisite, patients must fall within one of the following subpopulations:

• Patients with hypo-/hypercalcaemia, hypo-/hyperphosphataemia, hypo-/hypermagnesaemia, or persistent abnormalities in hormones regulating mineral metabolism (25OHD, 1,25OH2D, FGF23, or PTH).
• Patients with abnormalities in cementum, enamel, or dentine mineralisation. The diagnosis is then made in the presence of a structural abnormality affecting all temporary and permanent teeth and resulting in defects in colour, shape and/or surface, as well as, in the case of cementum defects, a defect/absence of the tooth’s anchoring system to the alveolar bone, which may mimic or accentuate periodontal disease.
• Patients with non-isolated brachydactyly (associated with: short stature (less than -2SD, or less than 1.5SD of the genetic target height), and/or early obesity, and/or hypothyroidism, and/or mental retardation.
• Patients presenting one of the three major criteria suggesting iPPSD
• Patients presenting non nutritional rickets

The corresponding NGS panel must have been performed and considered non-contributory. However, first-line genome testing may be requested for hypoparathyroidism, after exclusion of a chromosomal abnormality by CGH array.