domingo, 27 de enero de 2019

Mouth Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Mouth Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

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 
Ackerman syndrome 
Acute necrotizing ulcerative gingivitis 
ADULT syndrome 
Ameloblastic carcinoma 
Amelogenesis imperfecta nephrocalcinosis 
Ankyloblepharon filiforme imperforate anus 
Ankylosis of teeth 
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 
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 
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 
Diamond-Blackfan anemia 
Ectodermal dysplasia trichoodontoonychial type 
Ectodermal dysplasia with natal teeth Turnpenny type 
Ectropion inferior cleft lip and or palate 
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 
Hay-Wells syndrome 
Hemi 3 syndrome 
Hemifacial hyperplasia strabismus 
Hemifacial microsomia 
Hemifacial myohyperplasia 
Hyaline fibromatosis syndrome 
Hydrocephalus-cleft palate-joint contractures syndrome 
Hyperthermia induced defects 
Incontinentia pigmenti 
Jones syndrome 
Juberg-Hayward syndrome 
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa 
Junctional epidermolysis bullosa, non-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 
Macrosomia with lethal microphthalmia 
Malignant hyperthermia arthrogryposis torticollis 
Mandibulofacial dysostosis with microcephaly 
Marden Walker like syndrome 
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 
Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma 
Nager acrofacial dysostosis 
Nance-Horan syndrome 
Native American myopathy 
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 
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 
Steatocystoma multiplex with natal teeth 
Stickler syndrome type 1 
Stickler syndrome, type 2 
Stickler syndrome, type 3 
Sturge-Weber syndrome 
Syngnathia cleft palate 
TARP syndrome 
Taurodontia, absent teeth, sparse hair syndrome 
Toriello-Carey syndrome 
Townes-Brocks syndrome 
Treacher Collins syndrome 
Tricho-dento-osseous syndrome 
Trichodental 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 

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