Syndromic forms of rare diseases with oral manifestations

Criteria before considering a discussion in MDM-FMG

Inclusion criteria:

• Rare diseases with abnormalities in the development of the mouth and/or teeth associated with other symptoms as part of a syndrome.
• Not suggestive of a known syndrome at first glance.
• Detailed phenotypic examination of the oral cavity in consultation with the O-Rares network and the National TETECOU Network.
• Data available for affected subjects (family history: family tree, medical, biological, etc., preferably a trio approach).
• Intraoral photographs
• Panoramic radiography
• Negative diagnostic panel if option chosen
• Depending on the malformation concerned, a whole-genome analysis could be discussed, in the absence of a syndromic form, when the probability of a monogenic pathology is high, after agreement by the RCP.
• Possible inclusion in the RCPs of the CRMRs, CCMRs of the O-Rares network of the national TETECOU sector or, depending on the region, in local genomic RCPs.

Exclusion criteria:

• Exclusion of situations that could suggest abnormalities of the mouth and teeth due to a teratogenic cause or acquired origin.