The Syndromes

Since there are over 900 syndromes with oral manifestations, the syndromes will be classified based on the type of manifestation. Click to learn more about each of the five following classifications:

Quantity anomaly

Hypodontia: hypodontia is characterised by one or more absent teeth. Hypodontia is the most common developmental anomaly amongst humans. The third molars, which are often missing, are not considered as hypodontia but simply as a variation of the norm. Hypodontia is more frequent in permanent dentition than in primary dentition and more frequent in males than in females. Often the patients with hypodontia also have smaller or peg-shaped teeth.

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Syndromes associated to transcription factors MSX1 Hypodontia and oligodontia Witkop syndrome Wolf–Hirschhorn syndrome PAX9 Hypodontia and oligodontia Axenfeld–Rieger syndrome Syndromes associated to WNT signaling pathways Oligodontia and Colorectal Cancer Syndrome Odonto-onycho- dermal dysplasia Syndromes associated to TNF/NF-Kappa B signaling pathways Hypohidrotic Ectodermal Dysplasia Hypohidrotic Ectodermal Dysplasia with Immune Deficiency Incontinentia pigmenti Ectrodactyly, Ectodermal Dysplasia and Clefting (EEC) CLPED1 Syndrome (Recessive Cleft Lip/Palate – Ectodermal Dysplasia) Ellis-van Creveld Syndrome Van der Woude Syndrome Oral–Facial–Digital Syndrome Type I Williams (Beuren) Syndrome Syndromes associated to the TGFbeta Superfamily Angel-Shaped Phalango Epiphyseal Dysplasia Syndromes associated to the SHH signaling pathway Holoprosencephaly Syndromes associated to the FGF pathway Lacrimoauriculodentodigital Syndrome Kallmann Syndrome Others/unknown Bloom syndrome Rothmund–Thomson syndrome Diastrophic dysplasia syndrome Kabuki syndrome Down syndrome Congenital Hypertrichosis Lanuginosa Hallermann-Streiff syndrome Cranioectodermal dysplasia

Hyperdontia : hyperdontia is the development of supernumerary teeth. The presence of excess teeth is usually caused by a hyperactivity of the dental lamina. The shape of the affected teeth can also be altered (peg-shaped). Hyperdontia is more common in men and in permanent dentition. In 90% of the cases, the supernumerary teeth are found in the maxilla.

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Cleidocranial dysplasia Familial adenomatous polyposis Nance-Horan syndrome Tricho-Rhino- Phalangeal Syndromes

Size and shape anomaly

Size and shape anomalies: size anomalies include microdontia, a smaller tooth, or macrodontia, a larger tooth. There are many types of shape anomalies such as gemination, fusion, concrescence, supernumemrary cusps, supernumerary roots, ectopic enamel, taurodontism, etc.

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Rubinstein-Taybi syndrome Klinefelter syndrome Turner syndrome Otodental syndrome Oculo-Facio-Cardio-Dental Syndrome (OFCD) KBG syndrome Dyskeratosis congenita Ekman-Westborg-Julin syndrome Branchiooculo-facial syndrome Gorlin-Chaudhry-Moss syndrome XYY syndrome

Dental structure anomaly

Dentin anomalies: anomalies of the dentin can either be hereditary or caused by environmental factors. The hereditary conditions are of the autosomal dominant type and affect both dentitions (temporary and permanent). The disorder is often caused by mutations in the genes that code for collagen and phosphoproteins.

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Dentinogenesis imperfecta Dentin dysplasia Osteogenesis imperfecta Ehlers–Danlos syndrome Goldblatt syndrome Odontodysplasia Schimke immunoosseous dysplasia Hyperphosphatemic familial tumoral calcinosis Seckel syndrome Familial hypophosphatemic vitamin D-resistant rickets Rabson-Mendenhall Syndrome

Enamel anomalies: There are two different types of enamel anomalies. Either the anomaly is related to a syndrome or a metabolic disorder, either the anomaly is not. Those who are not related to disorders are classified as amelogenesis imperfecta of which there are many different types.

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Syndromes associated with amelogenesis imperfecta Tricho-dento-osseous syndrome Tricho-onycho-dental syndrome Amelo-onycho-hypohidrotic syndrome Amelogenesis imperfecta and nephrocalcinosis Amelogenesis imperfecta and cone–rod dystrophy Amelogenesis imperfecta and platyspondyly Kohlschutter-Tonz syndrome Heimler syndrome Syndromes associated with enamel defects Epidermolysis bullosa Tuberous sclerosis Autoimmune polyendocrine syndrome type 1 (APECED) Albright hereditary osteodystrophy Oculodentodigital dysplasia Pycnodysostosis Vitamin D-dependent rickets Vitamin D-resistant rickets

Eruption and resorption anomaly

Many factors can influence the eruption of the tooth into the oral cavity. Osteoclasts play an important role in the formation of the eruption pathway so any interruption of their activity can alter eruption and resorption. Abnormalities of the periodontal ligament can also affect the retention of the teeth in the oral cavity and can, therefore, lead to early tooth loss.

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Dental ankylosis Sotos syndrome Primary failure of eruption Osteopetrosis 4H syndrome Hypophosphatasia Papillon–Lefèvre syndrome Haim–Munk syndrome Aggressive periodontitis Familial expansile osteolysis Apert syndrome GAPO syndrome Gaucher disease Hyperimmunoglobulinemia E Menkes' kinky hair syndrome Carpenter syndrome McCune Albright syndrome Neurofibromatosis Oculoauriculo vertebral spectrum

MPS I & II MPS III MPS IV MPS VI

Zimmermann Laband syndrome Murray Puretic Drescher syndrome Ruhterford syndrome Cross syndrome Ramon syndrome Gingival fibromatosis with sensoneural hearing loss

Other

Naevoid Basal Cell Carcinoma Syndrome (NBCCS) Cherubism Beckwith-Wiedemann syndrome

Full list

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