Abstract
Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team.
Highlights
A genetic syndrome is a condition caused by any abnormality in one’s genome that may be inherited or de novo
The Orphan Drug Act defines a rare disease or condition as a disease (a) which affects less than 200,000 people in the United States or (b) for which there is no reasonable expectation that the cost of developing a drug and making it available in the US will be recovered from its sale [1]
The Cornelia De Lange syndrome (CdLS) is a multisystemic disease characterized by growth retardation, intellectual and psychomotor impairment, abnormalities of the hands, hirsutism and facial dysmorphism [35]
Summary
A genetic syndrome is a condition caused by any abnormality in one’s genome that may be inherited or de novo. Inclination of a tooth towards the buccal or palatal side, forward (mesioversion) or backward (distortion) Inverted tooth position (root versus alveolar ridge and crown versus basal bone portion). Regardless of the oral malformation observed, therapeutic management is often long and complex It starts at the time of diagnosis and continues during the child’s growth until adulthood, with the involvement of a multidisciplinary team. The aim of this narrative review is to search through literature cases of rare genetic syndromes affecting the cranio-facial structures (teeth, maxillary bones, oral soft tissues or mixed) and to propose a classification of oral abnormalities in rare genetic syndromes. The clinical cases presented have been referred to the Dental Clinic of San Paolo Hospital in Milan (Italy) since they have required a challenging multidisciplinary diagnostic and therapeutic approach
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