Orodental anomalies are one of the presentations of at least 900 rare diseases or syndromes. They are often described in association with other organs or system malformations, which is understandable, because the same genes and signalling pathways regulate the oral cavity formation, the development of the teeth and of other organs.
Amelogenesis imperfecta (represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
Amelogenesis imperfecta: Understanding its aetiology & genetics
Amelogenesis imperfecta: Treatment & management
Amelogenesis imperfecta: Differential diagnosis
Enlarged and delayed closure of anterior fontanel, dental anomalies, hypoplasia of clavicles. Usually, closure of the fontanel is complete and no surgical treatment is required. Screening and treatment of the dental problems by the pediatric dentist and orthodontist is essential.
Dentinogenesis imperfecta is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.
Signs of the condition are variable and there is significant overlap between different types of dentin dysplasia and dentinogenesis imperfecta. Three different types of DGI were originally described in the Shield's classification: DGI type 1, type 2 and type 3. The condition formerly known as DGI-1 is now considered to be a syndromic form of DGI associated with osteogenesis imperfecta types 1b,c, 2, 3, 4b, 9, and 10. In dentinogenesis imperfecta type 2, osteogenesis imperfecta is not a feature and the condition is usually characterized by abnormal amber or opalescent dentin, worn teeth, bulbous crowns with cervical constriction, short roots, obliterated pulp chambers and root canals (visible on X-rays). Dentinogenesis imperfecta type 3 is characterized by opalescent primary and permanent teeth, marked attrition, and large pulp chambers.
Eruption/resorption/early loss teeth
This group consists of disorders that are characterized by abnormal eruption, resorption or early loss of teeth.
Hypodontia is a rare developmental dental anomaly in humans characterized by the absence of five or less teeth.
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
Supernumerary teeth is a malformation characterized by the presence of accessory teeth.