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| Dental disease/disorder | Symptoms | Genetic cause | References |
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| Orofaciodigital syndrome 1 (OFD1) | Malformations of the face, oral cavity, oral clefts, underdeveloped nose flaps, finger abnormalities, hydronephrosis, and variable involvement of the central nervous system. | Mutations in OFD1 gene; mutations in the Cxorf5 gene, located in the Xp22 | [68–70] |
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| Oculofaciocardiodental (OFCD) | Canine radiculomegaly; oligodontia, delayed eruption of the dentition, malocclusion, root dilacerations, macrodontia, and enamel defects; microphthalmia and, congenital cataracts with secondary glaucoma | Mutations in the BCOR gene located in the chromosome Xp11.4 | [71, 72] |
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| Amelogenesis imperfecta (AI) | Developmental abnormalities in the quantity and/or quality of tooth enamel, occasionally in conjunction with other dental, oral, and extraoral tissues | Mutations in any of the six genes AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72 | [73] |
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| Cherubism | Bilateral bone enlargement of the jaws in childhood; displacement or aplasia of teeth and tooth-germs | Mutations in the gene encoding the binding protein SH3BP2 on chromosome 4p16.3 | [74] |
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Disorders of human dentin:
(a) dentinogenesis imperfectas (DI, types I–III)
(b) dentin dysplasias (DD, types I and II) | Discoloured teeth (brown-blue or opalescent brown) and structural defects such as bulbous crowns and small pulp chambers | Mutation in dentin sialophosphoprotein gene (DSPP, 4q21.3) | [75] |
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| Periodontal disease | Inflammatory as well as recessive alterations of the gingiva and periodontium | Mutation in interleukin-1 (IL-1) gene | [76, 77] |
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| Hypodontia | Missing one to six teeth (excluding the third molars) | Mutations in transcriptions factors of MSX1 gene in chromosome 4 or another transcription factor gene PAX9 in chromosome 14 | [78, 79] |
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| Cleidocranial dysplasia (CCD) | Affects the bones of the face causing a wide skull, a prominent forehead, a flat nose and a small upper jaw; delayed resorption and shedding of primary teeth, delayed maturation, and partial or absent eruption of the permanent teeth combined with ectopic position and development of cysts around the nonerupted molar | Mutation in the RUNX2 (CBFA1) gene found on chromosome six, 6p21.1 | [80–82] |
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| Some dermatological syndrome causing oral and dental manifestation |
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| Congenital erythropoietic porphyria | Hemolytic anemia, photosensitivity (manifested as blistering of the skin), skin fragility, mutilating scarring, hypertrichosis and hyperpigmentation, and deposition of red-brown pigment in the bones and teeth; oral mucosa is pale and the teeth have a red to maroon color | Mutations in the UROS gene which is located in the locus 10q25.2–q26.3 | [83] |
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| Ectodermal dysplasias | Characterized by the observation of anodontia and hypodontia of the temporal and permanent dentition, impacted teeth, pin-type dental malformations, enamel hypoplasia, multiples diastemas, and underdeveloped alveolar ridges | Mutation of Xq12–q13.1 (XLHED-gene) and also mutations in the TP63 gene | [84, 85] |
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| Epidermolysis bullosa | Repeated blistering, the formation of scars, limitation of oral aperture, ankyloglossia, disappearance of the oral and vestibular sulci, perioral stenosis, severe periodontal disease and bone reabsorption, atrophy of the upper maxilla with mandibular prognathism, an increased mandibular angle, and a predisposition to oral carcinoma | Mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) gene | [86, 87] |
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| Gardner syndrome | Epidermoid cysts, desmoid tumors, and other benign tumors; supernumerary teeth, compound odontomas, hypodontia, abnormal tooth morphology, and impacted or unerupted teeth | Mutation in the APC gene located in chromosome 5q21. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1→q31.1) | [88] |
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| Incontinentia pigmenti | Distinctive swirling pattern of the skin; defects of teeth, hair, and nails; ophthalmic, central nervous system, and musculoskeletal abnormalities | Mutations in the NEMO gene that completely abolishes expression of NF-kappaB essential modulator | [89] |
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| Naegeli-Franceschetti-Jadassohn syndrome | Affects the sweat glands, skin, nails, and teeth; reticulated hyperpigmentation, hypohidrosis, palmoplantar hyperkeratosis, abnormal teeth, and nail dysplasia; abnormally shaped teeth, polydontia, yellow spotted enamel, caries, and early total loss | Mutations in the keratin 14 (KRT14) gene, located on chromosome 17q11.2–q21 | [90] |
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| Papillon-Lefevre syndrome | Palmoplantar hyperkeratosis and rapid periodontal destruction | Mutations of a gene that regulates production of an enzyme known as cathepsin C, located on the long arm (q) of chromosome 11 (11q14–q21) | [91] |
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| Sjogren-Larsson syndrome | Congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation; white dots in the fundus, speech defects, epilepsy, dental problems, and skeletal abnormalities | Mutations in the FALDH (ALDH3A2) gene on chromosome 17p11.2 | [92, 93] |
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