Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Taurodontia, Generalized microdontia |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia |
OMIM:616270 |
Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite |
OMIM:617297 |
Dentin Dysplasia, Type I |
|
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... |
OMIM:125400 |
Amelogenesis Imperfecta |
|
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiic |
|
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia |
OMIM:301200 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Microdontia, Taurodontia, Pulp calcification |
OMIM:313490 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Regional Odontodysplasia |
|
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... |
ORPHA:83450 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology |
OMIM:612529 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
Dens In Dente And Palatal Invaginations |
|
Dens in dente, Abnormality of the dentition |
OMIM:125300 |
Dens Evaginatus |
|
Abnormality of the dentition, Talon cusp |
OMIM:125280 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... |
OMIM:125500 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Dental Ankylosis |
|
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia |
ORPHA:1077 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:603641 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Otodental Dysplasia |
|
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... |
OMIM:166750 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... |
ORPHA:49042 |
Oligodontia |
|
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... |
ORPHA:99798 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia |
OMIM:614564 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... |
ORPHA:1028 |
Trichodentoosseous Syndrome |
|
Microdontia, Widely spaced teeth, Taurodontia |
OMIM:190320 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta |
OMIM:245660 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Oral mucosal blisters, Enamel hypoplasia |
ORPHA:79406 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Primary Condylar Hyperplasia |
|
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia |
ORPHA:79405 |
Otodental Syndrome |
|
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... |
ORPHA:2791 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia |
OMIM:600907 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia |
OMIM:202900 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... |
OMIM:313500 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... |
ORPHA:3352 |
Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth |
OMIM:119540 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... |
OMIM:129540 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... |
ORPHA:251393 |
Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Gigantiform Cementoma, Familial |
|
Cementoma, Multiple impacted teeth, Tooth malposition |
OMIM:137575 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia |
OMIM:616029 |
17Q11.2 Microduplication Syndrome |
|
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:139474 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:217080 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Florid Cemento-Osseous Dysplasia |
|
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... |
ORPHA:83451 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Anodontia, Enamel hypoplasia |
OMIM:275450 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia |
ORPHA:79402 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... |
ORPHA:2972 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar |
OMIM:604625 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Thick vermilion border, Carious teeth, Enamel hypoplasia |
ORPHA:363523 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture |
OMIM:203550 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Usher Syndrome Type 2 |
|
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:231178 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology |
ORPHA:248 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
OMIM:261560 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Carious teeth, Increased connective tissue, Enamel hypoplasia |
OMIM:226670 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... |
OMIM:234250 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... |
ORPHA:69087 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia |
OMIM:600991 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:71267 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2222 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... |
ORPHA:2325 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth |
OMIM:615905 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... |
OMIM:601216 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita |
OMIM:217150 |
Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Cranioectodermal Dysplasia |
|
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... |
ORPHA:1515 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Lichtenstein Syndrome |
|
Carious teeth, Downturned corners of mouth, Enamel hypoplasia |
OMIM:246550 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor |
OMIM:616202 |
48,Xyyy Syndrome |
|
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth |
ORPHA:99329 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Hypodontia, Carious teeth, Oral mucosal blisters |
OMIM:226650 |
Fryns Macrocephaly |
|
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... |
OMIM:600302 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... |
ORPHA:2919 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Enamel hypoplasia |
OMIM:251190 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Widely spaced teeth, Enamel hypoplasia, Conical tooth |
OMIM:613573 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia, Gingival hyperkeratosis... |
OMIM:225410 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Micrognathia, Inguina... |
OMIM:618363 |
Cleft Lip/Palate |
|
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... |
ORPHA:199306 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... |
OMIM:273050 |
Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... |
OMIM:253250 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Enamel hypoplasia, Pulp calcification |
OMIM:211900 |
Ramon Syndrome |
|
Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:3019 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia |
OMIM:612843 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip vermilion, Inguinal hernia, ... |
ORPHA:10 |
Usher Syndrome |
|
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:886 |
Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Microdontia, Malar fla... |
OMIM:618727 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... |
OMIM:170390 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Grayish enamel... |
ORPHA:2980 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Mulberry molar, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Andersen-Tawil Syndrome |
|
High palate, Abnormality of the dentition, Oligodontia, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:37553 |
Kohlschutter-Tonz Syndrome-Like |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, Carious teeth, W... |
OMIM:619229 |
Cockayne Syndrome Type 2 |
|
Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Delayed eruption of primary ... |
ORPHA:90322 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Oculocerebrodental Syndrome |
|
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition |
ORPHA:557003 |
Pyle Disease |
|
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... |
OMIM:265900 |
Corneodermatoosseous Syndrome |
|
Abnormality of the dentition, Hypomature dental enamel |
OMIM:122440 |
Pycnodysostosis |
|
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... |
OMIM:265800 |
Eem Syndrome |
|
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... |
ORPHA:1897 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Microdontia, Widely spaced teet... |
OMIM:619293 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental morphology, Abnormality of dental color |
OMIM:163200 |
Mucopolysaccharidosis Type 4 |
|
Hernia, Carious teeth, Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:582 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Oligodontia, Hypodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp |
ORPHA:59303 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... |
OMIM:253000 |
Momo Syndrome |
|
High palate, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Smooth philtrum... |
OMIM:157980 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... |
OMIM:253010 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia |
OMIM:263540 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Short philtrum, Delayed eruption of teeth, High, narrow palate, Macrodontia, Taurodontia |
ORPHA:3214 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth |
ORPHA:3145 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia |
OMIM:226730 |
Qazi-Markouizos Syndrome |
|
Drooling, Open mouth, Hypoplasia of teeth, High, narrow palate, Broad philtrum |
ORPHA:3010 |
Pycnodysostosis |
|
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... |
ORPHA:763 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
Amelogenesis Imperfecta, Type Ig |
|
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... |
OMIM:204690 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Dent... |
OMIM:619184 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... |
OMIM:257850 |
Momo Syndrome |
|
High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Thick upper lip... |
ORPHA:2563 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... |
ORPHA:1193 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Enamel hypoplasia, Malar flattening, Bilateral cleft lip and palate, Thin upper lip ... |
OMIM:618874 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Open bite, Carious teeth, Inguinal hernia, Abnormal dental enamel morp... |
ORPHA:96263 |
Seckel Syndrome 1 |
|
High palate, Elbow flexion contracture, Enamel hypoplasia, Micrognathia, Selective tooth agenesis... |
OMIM:210600 |
Aredyld Syndrome |
|
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Mandibul... |
ORPHA:1133 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition |
ORPHA:1811 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Carious teeth |
OMIM:604922 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... |
OMIM:601668 |
Ohdo Syndrome |
|
Narrow mouth, Long philtrum, Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Smooth philt... |
OMIM:249620 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
Raine Syndrome |
|
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... |
OMIM:259775 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
Scarf Syndrome |
|
Long philtrum, Enamel hypoplasia, Hypocalcification of dental enamel, Inguinal hernia, Umbilical ... |
ORPHA:3134 |
Immunodeficiency 9 |
|
Amelogenesis imperfecta, Stomatitis, Recurrent aphthous stomatitis |
OMIM:612782 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia, Camptodactyly of fi... |
ORPHA:3220 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96264 |
Liang-Wang Syndrome |
|
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... |
OMIM:618729 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Atrophic scars |
OMIM:226600 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Joint cont... |
OMIM:164200 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... |
ORPHA:50814 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Smith-Magenis Syndrome |
|
Short philtrum, Cleft upper lip, Open mouth, Tented upper lip vermilion, Micrognathia, Delayed er... |
ORPHA:819 |
Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Hernia, Hypodontia, Microdontia, Micrognathia |
OMIM:617052 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Atypical scarring of skin, Corneal scarring, Abnormality of the mouth, Joint contr... |
OMIM:263700 |
Hall-Riggs Syndrome |
|
Thick vermilion border, Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned ... |
ORPHA:2107 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Malar flattening, Abnormal dental enamel morphology, Mandibular prognathia |
ORPHA:2180 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Delayed eruption of teeth, Enamel hypoplasia |
OMIM:277440 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow mouth, High palate, Flexion contracture, Decreased adipose tissue around neck, Loss of tru... |
OMIM:608612 |
Temtamy Syndrome |
|
Hypoplasia of teeth, Dental crowding, Long philtrum, Micrognathia |
OMIM:218340 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia |
OMIM:614576 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Diastema, Agenesis of molar, Supernumerary tooth |
OMIM:619718 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
Orofaciodigital Syndrome Type 2 |
|
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... |
ORPHA:2751 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Contractures involving the joints of the feet, Abnormality of the de... |
ORPHA:90321 |
Intellectual Disability, Birk-Barel Type |
|
Short philtrum, Contractures involving the joints of the feet, Open mouth, Tented upper lip vermi... |
ORPHA:166108 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Conical tooth |
OMIM:617475 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1782 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Mandibuloacral Dysplasia |
|
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Contractu... |
ORPHA:2457 |
Tooth Agenesis, Selective, 4 |
|
Tooth agenesis, Peg-shaped maxillary lateral incisors |
OMIM:150400 |
Cleidocranial Dysplasia |
|
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... |
OMIM:119600 |
Orofaciodigital Syndrome I |
|
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... |
OMIM:311200 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Dorsocervical fat pad, Micrognathia, Hy... |
ORPHA:391408 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Hypodontia, Carious teeth, Micrognathia, Abnormality of dental morphology, Abnor... |
ORPHA:3253 |
Short Syndrome |
|
Lipodystrophy, Microdontia, Abnormal mandible morphology, Inguinal hernia, Malar flattening, Abno... |
ORPHA:3163 |
Hypophosphatasia, Adult |
|
Premature loss of primary teeth, Chondrocalcinosis, Carious teeth, Premature loss of permanent teeth |
OMIM:146300 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vaginal hernia, Hypodontia, Abnormal dental enamel morphology, Mandibular prognathia, Macrodontia... |
ORPHA:2916 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth |
ORPHA:2728 |
Intellectual Disability And Myopathy Syndrome |
|
Achilles tendon contracture, Widely-spaced maxillary central incisors, Thin upper lip vermilion, ... |
OMIM:619719 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of primary molar morphology, Hypodontia, Microdontia |
ORPHA:1830 |
Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Premature loss of primary teeth, Non-midline cleft lip, Carious teeth, Mic... |
ORPHA:2710 |
Dysostosis, Stanescu Type |
|
Abnormal palate morphology, Carious teeth, Macroglossia, Hypoplasia of the maxilla, Abnormal dent... |
ORPHA:1798 |
Osteogenesis Imperfecta |
|
Dental malocclusion, Flexion contracture, Delayed eruption of teeth, Carious teeth, Micrognathia,... |
ORPHA:666 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Wide mouth, Bifid uvula, Enamel hypoplasia |
OMIM:615802 |
Codas Syndrome |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1458 |
Cleidocranial Dysplasia |
|
Sinusitis, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow... |
ORPHA:1452 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Abnormal oral mucosa morphology, Hypodontia, Microdontia, Everted lower lip vermil... |
OMIM:305100 |
Scarf Syndrome |
|
Inguinal hernia, Umbilical hernia, Long philtrum, Enamel hypoplasia |
OMIM:312830 |
Cerebellar-Facial-Dental Syndrome |
|
Long philtrum, Contractures involving the joints of the feet, Micrognathia, Inguinal hernia, Alve... |
ORPHA:444072 |
Kilquist Syndrome |
|
Xerostomia, Hypoplasia of teeth, Mandibular prognathia, Wide mouth |
OMIM:619080 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Long philtrum, Cleft palate, Thin vermilion border, Incisor macrodontia |
OMIM:615502 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lipodystrophy, High palate, Flexion contracture, Increased facial adipose tissue, Hypoplasia of t... |
OMIM:248370 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... |
OMIM:300602 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Osteogenesis Imperfecta, Type Xi |
|
Abnormality of the dentition, Dentinogenesis imperfecta |
OMIM:610968 |
Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Enamel hypoplasia |
OMIM:610965 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Pde4D Haploinsufficiency Syndrome |
|
Short philtrum, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Abnorma... |
ORPHA:439822 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia |
OMIM:243150 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Atypical scarring of skin, Oligodontia, Abnormal dental enamel morphology, Arthr... |
OMIM:601701 |
Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia |
OMIM:616294 |
Eec Syndrome |
|
Carious teeth, Microdontia, Tooth agenesis, Abnormal dental enamel morphology, Taurodontia, Oral ... |
ORPHA:1896 |
Atkin-Flaitz Syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... |
OMIM:300431 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... |
ORPHA:1071 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth |
OMIM:184260 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia |
ORPHA:2050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Retrognathia, Enamel hypoplasia |
OMIM:210720 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
Trichothiodystrophy |
|
Multiple joint contractures, Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of su... |
ORPHA:33364 |
Hepatoerythropoietic Porphyria |
|
Scarring, Erythrodontia, Scarring alopecia of scalp |
ORPHA:95159 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Microdontia, Deep philtrum, Talon cusp, Diastema, Cleft palate |
OMIM:605282 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Oral mucosal blisters, Enamel hypoplasia |
ORPHA:79403 |
Corneodermatoosseous Syndrome |
|
Gingivitis, Carious teeth, Abnormal dental enamel morphology |
ORPHA:3194 |
Craniolenticulosutural Dysplasia |
|
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of ... |
OMIM:607812 |
Oculocerebrorenal Syndrome Of Lowe |
|
Long philtrum, Open bite, Everted lower lip vermilion, Micrognathia, Inguinal hernia, Mandibular ... |
ORPHA:534 |
Cockayne Syndrome A |
|
Loss of facial adipose tissue, Atypical scarring of skin, Enamel hypoplasia, Carious teeth, Hypop... |
OMIM:216400 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Retrognathia |
OMIM:234050 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Conical incisor, Dental maloc... |
ORPHA:73223 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypocalcification of dental enamel, Amelogenesis imperfecta |
ORPHA:169090 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Cranioectodermal Dysplasia 1 |
|
High palate, Enamel hypoplasia, Hypodontia, Microdontia, Everted lower lip vermilion, Widely spac... |
OMIM:218330 |
Sanjad-Sakati Syndrome |
|
Long philtrum, Micrognathia, Abnormal dental enamel morphology, Abnormality of the dentition, Thi... |
ORPHA:2323 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... |
ORPHA:363417 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Periodontitis, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
Congenital Disorder Of Glycosylation, Type Iim |
|
High palate, Short philtrum, Fused teeth, Enamel hypoplasia, Open mouth, Exaggerated cupid's bow,... |
OMIM:300896 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Scarring, Atrophic scars |
ORPHA:79396 |
Cenani-Lenz Syndrome |
|
Short philtrum, Hypodontia, High, narrow palate, Malar flattening, Abnormal dental enamel morphology |
ORPHA:3258 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Microdontia, Inguinal hernia, Abnormal dental enamel morphology, Retrognathia, Hypoplasia of the ... |
ORPHA:1812 |
Koolen-De Vries Syndrome |
|
Hypodontia, Microdontia, Everted lower lip vermilion, High, narrow palate, Abnormal dental enamel... |
ORPHA:96169 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Amelogenesis imperfecta |
OMIM:610319 |
Codas Syndrome |
|
Omphalocele, Delayed eruption of teeth, Enamel hypoplasia |
OMIM:600373 |
Nail-Patella Syndrome |
|
Achilles tendon contracture, Flexion contracture, Contracture of the distal interphalangeal joint... |
ORPHA:2614 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Smooth philtrum, Enamel... |
OMIM:614701 |
Costello Syndrome |
|
Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnormality of the de... |
ORPHA:3071 |
Treacher-Collins Syndrome |
|
Narrow mouth, High palate, Cleft upper lip, Open bite, Micrognathia, Hypoplasia of the maxilla, A... |
ORPHA:861 |
Congenital Erythropoietic Porphyria |
|
Scarring, Erythrodontia, Scarring alopecia of scalp, Increased connective tissue |
ORPHA:79277 |
Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Dentinogenesis imperfecta, Malar flattening, Micrognathia |
OMIM:613848 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormality of the mouth, Abnormal dental enamel morphology, Abnormal lip morphology |
ORPHA:1334 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Micrognathia, Abnormality of dental morphology, Wide mouth, Abnormal ... |
ORPHA:85199 |
Dyskeratosis Congenita |
|
Oral leukoplakia, Hypodontia, Carious teeth, Periodontitis, Hypoplasia of the maxilla, Abnormalit... |
ORPHA:1775 |
3M Syndrome |
|
Abnormal dental enamel morphology, Everted lower lip vermilion, Long philtrum, Delayed eruption o... |
ORPHA:2616 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Hypodontia, Microdontia, Cari... |
ORPHA:2363 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Inguinal hernia, Dental ... |
OMIM:603457 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Carious teeth, Microdontia, Supernumerary tooth, Hypoplasia of teeth, ... |
ORPHA:2909 |
Cranioectodermal Dysplasia 3 |
|
Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia |
OMIM:614099 |
Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
Stuve-Wiedemann Syndrome 1 |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Micrognathia,... |
OMIM:601559 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600906 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
Acrocallosal Syndrome |
|
High palate, Short philtrum, Cleft upper lip, Long philtrum, Open mouth, Hypoplasia of teeth, Ing... |
OMIM:200990 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Micrognathia, H... |
ORPHA:293967 |
Cockayne Syndrome |
|
Agenesis of permanent teeth, Enamel hypoplasia, Contractures of the large joints, Carious teeth, ... |
ORPHA:191 |
Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia |
OMIM:272460 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Microdontia, Supernumerary t... |
OMIM:268400 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
Orofaciodigital Syndrome Type 1 |
|
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Open bite, Lobulated... |
ORPHA:2750 |
Branchioskeletogenital Syndrome |
|
Short philtrum, Bifid uvula, Rootless teeth, Unilateral cleft palate, Carious teeth, Abnormal den... |
ORPHA:1299 |
Lowry-Maclean Syndrome |
|
Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Delayed eruption of primary teeth, ... |
ORPHA:2409 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology |
ORPHA:251004 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Flexion contracture, Enamel hypoplasia |
ORPHA:90324 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Open bite, Hernia, Congenital diaphragmatic hernia, Inguinal hernia, Abn... |
ORPHA:2092 |
Focal Dermal Hypoplasia |
|
Hiatus hernia, Cleft upper lip, Delayed eruption of teeth, Enamel hypoplasia, Oligodontia, Hypodo... |
OMIM:305600 |
Lacrimoauriculodentodigital Syndrome |
|
Absence of Stensen duct, Enamel hypoplasia, Hypodontia, Carious teeth, Conical incisor, Delayed e... |
OMIM:149730 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Narrow pala... |
ORPHA:364028 |
Rubinstein-Taybi Syndrome 1 |
|
Narrow mouth, High palate, Keloids, Flexion contracture, Enamel hypoplasia, Micrognathia, Abnorma... |
OMIM:180849 |
Kindler Epidermolysis Bullosa |
|
Premature loss of primary teeth, Flexion contracture, Atypical scarring of skin, Periodontitis, C... |
ORPHA:2908 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Delayed eruption of teeth, Carious teeth, Microdontia, Abnormal dental enamel morpho... |
ORPHA:221016 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Narrow mouth, High palate, Agenesis of permanent teeth, Flexion contracture, Delayed eruption of ... |
OMIM:619503 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Carious teeth, Microdontia, Abnormal dental enamel morphology, Tooth a... |
ORPHA:221008 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Abnormal dental enamel m... |
ORPHA:464 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Bifid uvula, High, narrow palate, Facial hyperostosis, Submucous cleft hard palate, Inguinal hern... |
ORPHA:2658 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Abnormal oral mucosa morphology, Enamel hypoplasia |
ORPHA:79404 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Enamel hypoplasia |
OMIM:309000 |
Marshall Syndrome |
|
Pierre-Robin sequence, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Micro... |
OMIM:154780 |
X-Linked Hypophosphatemia |
|
Cellulitis, Odontodysplasia, Tooth abscess, Abnormal dentin morphology, Enthesitis |
ORPHA:89936 |
Cockayne Syndrome B |
|
Loss of facial adipose tissue, Atypical scarring of skin, Carious teeth, Hypoplasia of teeth, Red... |
OMIM:133540 |
Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Open bite, Micrognathia, Macroglossia, Hypoplasia of the maxilla,... |
ORPHA:828 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, ... |
ORPHA:438216 |
Hypophosphatemic Rickets |
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Periapical tooth abscess, Craniofacial asymmetry, Odontodysplasia, Craniofacial osteosclerosis, T... |
ORPHA:437 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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High palate, Long philtrum, Multiple joint contractures, Microdontia, Carious teeth, Micrognathia... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type Viii |
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Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Narrow mouth, Delayed eruption of teeth, Oligodontia, Conical incisor, Malar flattening, Retrogna... |
OMIM:235510 |
Smith-Lemli-Opitz Syndrome |
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Long philtrum, Supernumerary tooth, Bifid tongue, Micrognathia, Congenital diaphragmatic hernia, ... |
ORPHA:818 |
Tuberous Sclerosis 1 |
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Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Autosomal Recessive Spastic Paraplegia Type 77 |
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Macrodontia of permanent maxillary central incisor, Impaired mastication, Retrognathia |
ORPHA:466722 |
Hermansky-Pudlak Syndrome |
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Abnormal dental enamel morphology |
ORPHA:79430 |
22Q11.2 Deletion Syndrome |
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Narrow mouth, Short philtrum, Long philtrum, Carious teeth, Micrognathia, Inguinal hernia, Malar ... |
ORPHA:567 |
Tetrasomy 9P |
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Amelogenesis imperfecta, High palate, Bifid uvula, Abnormal number of permanent teeth, Short phil... |
ORPHA:3310 |
Ellis Van Creveld Syndrome |
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Delayed eruption of teeth, Abnormality of the dentition, Abnormal oral mucosa morphology, Hypodon... |
ORPHA:289 |
Pallister-Killian Syndrome |
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Bifid uvula, Flexion contracture, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Al... |
OMIM:601803 |
Familial Adenomatous Polyposis |
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Abnormality of the dentition, Supernumerary tooth, Eruption failure, Lipoma, Abnormal cementum mo... |
ORPHA:733 |
Microphthalmia With Linear Skin Defects Syndrome |
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Congenital diaphragmatic hernia, Micrognathia, Mandibular aplasia, Abnormal dental enamel morphol... |
ORPHA:2556 |
Alström Syndrome |
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Tooth agenesis, Dorsocervical fat pad, Recurrent sinusitis, Abnormality of dental color, Gingivitis |
ORPHA:64 |
Singleton-Merten Syndrome 1 |
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Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Smooth ... |
OMIM:182250 |
Williams Syndrome |
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Long philtrum, Open bite, Hypodontia, Carious teeth, Thick lower lip vermilion, Everted lower lip... |
ORPHA:904 |
Proximal Renal Tubular Acidosis |
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Enamel hypomineralization |
ORPHA:47159 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Inguinal hernia, Cheilitis, Omphalocele, Abnormal dental enamel morphology, Camptodactyly of finger |
ORPHA:2273 |
Proteus Syndrome |
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Carious teeth, Lipoma, Abnormal subcutaneous fat tissue distribution, Abnormal dental enamel morp... |
ORPHA:744 |
Non-Specific Syndromic Intellectual Disability |
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Narrow mouth, High palate, Long philtrum, Micrognathia, Smooth philtrum, Thin vermilion border, I... |
ORPHA:528084 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Keloids, Hypodontia, Carious teeth, Supernumerary tooth, Natal tooth, Dental crowding, Talon cusp... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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High palate, Keloids, Corneal scarring, Hypodontia, Carious teeth, Supernumerary tooth, Micrognat... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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High palate, Keloids, Corneal scarring, Hypodontia, Carious teeth, Supernumerary tooth, Micrognat... |
ORPHA:353277 |
Peters-Plus Syndrome |
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Cleft upper lip, Long philtrum, Thin upper lip vermilion, Widely spaced teeth, Exaggerated cupid'... |
OMIM:261540 |
Johanson-Blizzard Syndrome |
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Agenesis of permanent teeth, Hypoplasia of the primary teeth |
OMIM:243800 |