National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Mouth Diseases


22q11.2 deletion syndrome
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Acrodysostosis
Acute necrotizing ulcerative gingivitis
ADULT syndrome
Ameloblastic carcinoma
Amelogenesis imperfecta nephrocalcinosis
Ankyloblepharon filiforme imperforate anus
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankylosis of teeth
Anodontia
Apert syndrome
Arthrogryposis multiplex congenita whistling face
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Auriculo-condylar syndrome
Ausems Wittebol-Post Hennekam syndrome
Bamforth syndrome
Bifid nose
Bixler Christian Gorlin syndrome
Blepharo-cheilo-odontic syndrome
Branchial arch syndrome X-linked
Branchiooculofacial syndrome
Branchiootorenal syndrome
Bruck syndrome 1
Cardiomyopathy dilated with woolly hair and keratoderma
Carey-Fineman-Ziter syndrome
Catel Manzke syndrome
CHARGE syndrome
Charlie M syndrome
Cherubism
Childhood hypophosphatasia
Chitayat Meunier Hodgkinson syndrome
Classical-like Ehlers-Danlos syndrome
Cleft hand absent tibia
Cleft palate short stature vertebral anomalies
Cleidocranial dysplasia
Cleidocranial dysplasia recessive form
Cone-rod dystrophy amelogenesis imperfecta
Cornelia de Lange syndrome
Crane-Heise syndrome
Deafness enamel hypoplasia nail defects
Deafness oligodontia syndrome
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia, coronal
Dentin dysplasia, type 1
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Dermoodontodysplasia
Diamond-Blackfan anemia
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
EEC syndrome
Femoral facial syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal methylmercury syndrome
Fetal minoxidil syndrome
Fetal valproate syndrome
Florid cemento-osseous dysplasia
Fragile X syndrome
Frontofacionasal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia
Frontorhiny - See Frontonasal dysplasia
Fryns syndrome
Fuhrmann syndrome
GAPO syndrome
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Genito palato cardiac syndrome
Gingival fibromatosis with hypertrichosis
Gingival fibromatosis, 1
Gingival fibromatosis, 2
Gingival fibromatosis, 3
Gingival fibromatosis, 4
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Gordon syndrome
Haim-Munk syndrome
Hanhart syndrome
Hardikar syndrome
Hemi 3 syndrome
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hemifacial myohyperplasia
Hyaline fibromatosis syndrome
Hydrocephalus-cleft palate-joint contractures syndrome
Hyperthermia induced defects
Hypophosphatasia
Incontinentia pigmenti
Jones syndrome
Juberg-Hayward syndrome
Junctional epidermolysis bullosa generalized intermediate - See Epidermolysis bullosa
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa
Kabuki syndrome
Kapur Toriello syndrome
KBG syndrome
Kniest dysplasia
Kohlschutter Tonz syndrome
Laband syndrome
Lacrimo-auriculo-dento-digital syndrome
Lambert syndrome
Larsen syndrome
Laryngoonychocutaneous syndrome - See Epidermolysis bullosa
Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Macroglossia
Macrosomia with lethal microphthalmia
Malignant hyperthermia arthrogryposis torticollis
Mandibulofacial dysostosis with microcephaly
Marden-Walker syndrome
Maternal hyperphenylalaninemia
Maxillonasal dysplasia, Binder type
Meckel syndrome
Medeira-Dennis-Donnai syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Mesomelic dwarfism cleft palate camptodactyly
Methimazole antenatal exposure
Microbrachycephaly ptosis cleft lip
Miller syndrome
Moebius syndrome
Nager acrofacial dysostosis
Nance-Horan syndrome
Oculoauriculofrontonasal syndrome
Oculocerebral syndrome with hypopigmentation
Oculodentodigital dysplasia
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Odonto onycho dysplasia with alopecia
Odontoma dysphagia syndrome
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
Omphalocele cleft palate syndrome lethal
Oral submucous fibrosis
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Osteogenesis imperfecta type III
Osteogenesis imperfecta type IV
Osteogenesis imperfecta type VI
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Otodental dysplasia
Pallister W syndrome
Papillon Lefevre syndrome
PARC syndrome
Periodontal Ehlers-Danlos syndrome
Phenobarbital antenatal exposure
Pierre Robin sequence
Pilodental dysplasia with refractive errors
Pinheiro Freire-Maia Miranda syndrome
Popliteal pterygium syndrome
Popliteal pterygium syndrome, Bartsocas-Papas type
Proteus syndrome
Proximal chromosome 18q deletion syndrome
Pyramidal molars-abnormal upper lip syndrome
Ramon Syndrome
Rapadilino syndrome
Richieri Costa Pereira syndrome
Roberts syndrome
Rutherfurd syndrome
Say syndrome
Schimke immunoosseous dysplasia
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
STAC3 Disorder
Steatocystoma multiplex with natal teeth
Sturge-Weber syndrome
Syngnathia cleft palate
TARP syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Toriello-Carey syndrome
Townes-Brocks syndrome
Treacher Collins syndrome
Tricho-dento-osseous syndrome
Trichodental syndrome
Van den Ende Gupta syndrome
Van der Woude syndrome
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Verloes Bourguignon syndrome
Verloove Vanhorick Brubakk syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Warfarin syndrome
Weissenbacher-Zweymuller syndrome
Witkop syndrome
Xanthogranulomatous sialadenitis
Zlotogora syndrome