Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
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 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color |
ORPHA:1873 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia |
OMIM:226650 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Scarring alopecia of scalp, Dental enamel pits, Carious teeth |
OMIM:619787 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth |
ORPHA:79405 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia |
OMIM:202900 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... |
ORPHA:3352 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Localized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... |
ORPHA:251393 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
17Q11.2 Microduplication Syndrome |
|
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening |
ORPHA:139474 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:217080 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Atrophic scars, Carious teeth |
OMIM:226700 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars |
ORPHA:79402 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Thick vermilion border, Carious teeth |
ORPHA:363523 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar |
OMIM:604625 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth |
ORPHA:231178 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
Trichodental Dysplasia |
|
Odontodysplasia, Conical tooth, Hypodontia |
OMIM:601453 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
OMIM:261560 |
Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... |
ORPHA:1031 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... |
ORPHA:69087 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening |
OMIM:600991 |
Hall-Riggs Mental Retardation Syndrome |
|
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... |
OMIM:234250 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... |
ORPHA:2325 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:71267 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Dental Anomalies And Short Stature |
|
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Cleft palate |
OMIM:217150 |
Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Cranioectodermal Dysplasia |
|
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... |
ORPHA:1515 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion |
ORPHA:99329 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth |
OMIM:226670 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Micrognathia |
OMIM:251190 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... |
OMIM:618363 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Inguinal hernia, Everted lower lip verm... |
OMIM:225410 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... |
OMIM:273050 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... |
OMIM:253250 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Taurodontia, Pulp calcification |
OMIM:211900 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Ramon Syndrome |
|
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology |
ORPHA:3019 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth |
OMIM:612843 |
Usher Syndrome |
|
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth |
ORPHA:886 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
48,Xxyy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... |
ORPHA:10 |
Andersen-Tawil Syndrome |
|
High palate, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Oligodonti... |
ORPHA:37553 |
Acrootoocular Syndrome |
|
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... |
ORPHA:2980 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... |
OMIM:618727 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... |
OMIM:619980 |
Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Flexion contracture, Ena... |
ORPHA:90322 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Kohlschutter-Tonz Syndrome-Like |
|
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced teeth, Yellow-brown di... |
OMIM:619229 |
Oculocerebrodental Syndrome |
|
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia |
ORPHA:557003 |
Pyle Disease |
|
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... |
OMIM:265900 |
Eem Syndrome |
|
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... |
ORPHA:1897 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Abnormal dental ... |
ORPHA:582 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental morphology, Abnormality of dental color |
OMIM:163200 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Hypodontia |
OMIM:300636 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Enamel hypoplasia, Oligodontia, Hypodontia |
OMIM:607626 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... |
OMIM:619293 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... |
OMIM:157980 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Inguinal hernia, Grayish enamel, Carious teeth, Widely spaced teeth, Mandibular progn... |
OMIM:253010 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia |
OMIM:263540 |
Amelogenesis Imperfecta, Type Ig |
|
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... |
OMIM:204690 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth |
ORPHA:3214 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth |
ORPHA:3145 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... |
OMIM:170390 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars |
OMIM:226730 |
Corneodermatoosseous Syndrome |
|
Hypomature dental enamel |
OMIM:122440 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Pycnodysostosis |
|
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... |
ORPHA:763 |
Qazi-Markouizos Syndrome |
|
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth |
ORPHA:3010 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... |
OMIM:619184 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplasia, Ankyloglossia, ... |
OMIM:618874 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... |
OMIM:257850 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Inguinal hernia, Grayish enamel, Carious teeth, Widely spaced teeth, Mandibular progn... |
OMIM:253000 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... |
ORPHA:2563 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... |
ORPHA:1193 |
48,Xxxy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... |
ORPHA:96263 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Advanced... |
ORPHA:1133 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Carious teeth |
OMIM:604922 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth |
ORPHA:1811 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... |
OMIM:210600 |
Ohdo Syndrome |
|
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... |
OMIM:249620 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... |
OMIM:601668 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... |
OMIM:226600 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
Immunodeficiency 9 |
|
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis |
OMIM:612782 |
Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... |
ORPHA:3134 |
Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Taurodontia, Smooth philtrum |
OMIM:614378 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:3220 |
49,Xxxxy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna... |
ORPHA:96264 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil... |
ORPHA:819 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Oculodentodigital Dysplasia |
|
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... |
OMIM:164200 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... |
ORPHA:50814 |
Bone Marrow Failure Syndrome 3 |
|
Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis imperfecta |
OMIM:617052 |
Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth |
OMIM:277440 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology |
ORPHA:2180 |
Hamamy Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... |
OMIM:611174 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... |
OMIM:259775 |
Hall-Riggs Syndrome |
|
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... |
ORPHA:2107 |
Temtamy Syndrome |
|
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum |
OMIM:218340 |
Filippi Syndrome |
|
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated incisors, Abnormality of... |
OMIM:272440 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Abnormality of the denti... |
ORPHA:90321 |
Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... |
ORPHA:166108 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia |
OMIM:614576 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
Porphyria, Congenital Erythropoietic |
|
Corneal scarring, Atypical scarring of skin, Erythrodontia, Joint contracture of the hand |
OMIM:263700 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia |
OMIM:619718 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Mandibuloacral Dysplasia |
|
High palate, Increased adipose tissue around the neck, Dental crowding, Lipoatrophy, Micrognathia... |
ORPHA:2457 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1782 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Conical tooth, Tooth malposition |
OMIM:617475 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth... |
ORPHA:3253 |
Cleidocranial Dysplasia 1 |
|
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... |
OMIM:119600 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou... |
ORPHA:391408 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Premature loss of teeth, Narrow mouth, Dental crowding, Flexion contracture, Microgn... |
OMIM:608612 |
Orofaciodigital Syndrome I |
|
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... |
OMIM:311200 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... |
ORPHA:2916 |
Short Syndrome |
|
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... |
ORPHA:3163 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... |
ORPHA:1798 |
Oculodentodigital Dysplasia |
|
Tooth agenesis, Taurodontia, Cleft palate, Broad alveolar ridges, Micrognathia, Camptodactyly of ... |
ORPHA:2710 |
Schimke Immuno-Osseous Dysplasia |
|
Hypodontia, Microdontia, Abnormality of primary molar morphology |
ORPHA:1830 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate |
ORPHA:2728 |
Hypophosphatasia, Adult |
|
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth |
OMIM:146300 |
Osteogenesis Imperfecta |
|
Dental malocclusion, Dentinogenesis imperfecta, Inguinal hernia, Flexion contracture, Abnormality... |
ORPHA:666 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor |
OMIM:616202 |
Codas Syndrome |
|
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1458 |
Cleidocranial Dysplasia |
|
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... |
ORPHA:1452 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... |
OMIM:619719 |
Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Scarf Syndrome |
|
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia |
OMIM:312830 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Osteogenesis Imperfecta, Type Xi |
|
Abnormality of the dentition, Dentinogenesis imperfecta |
OMIM:610968 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia |
OMIM:610965 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300602 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
Pde4D Haploinsufficiency Syndrome |
|
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... |
ORPHA:439822 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Taurodontia, Hypodontia, Everted lower lip vermilion, Microdontia, Abnormal oral mucosa morpholog... |
OMIM:305100 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... |
OMIM:200990 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Developmental And Epileptic Encephalopathy 100 |
|
High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod... |
OMIM:619777 |
Kilquist Syndrome |
|
Wide mouth, Hypoplasia of teeth, Mandibular prognathia |
OMIM:619080 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Omphalocele |
OMIM:243150 |
Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia |
OMIM:616294 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... |
OMIM:601701 |
Cole-Carpenter Syndrome |
|
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2050 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... |
ORPHA:1071 |
Odontochondrodysplasia 1 |
|
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta |
OMIM:184260 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300431 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Retrognathia, Enamel hypoplasia, Microdontia |
OMIM:210720 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis |
OMIM:212750 |
Hepatoerythropoietic Porphyria |
|
Scarring, Scarring alopecia of scalp, Erythrodontia |
ORPHA:95159 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... |
ORPHA:73223 |
Trichothiodystrophy |
|
Multiple joint contractures, High, narrow palate, Retrognathia, Carious teeth, Enamel hypoplasia,... |
ORPHA:33364 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
Eec Syndrome |
|
Tooth agenesis, Taurodontia, Cleft palate, Microdontia, Carious teeth, Oral cleft, Abnormal denta... |
ORPHA:1896 |
Corneodermatoosseous Syndrome |
|
Gingivitis, Abnormal dental enamel morphology, Carious teeth |
ORPHA:3194 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth... |
OMIM:607812 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp |
OMIM:605282 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Umbilical hern... |
ORPHA:534 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Dental malocclusion, Hip contracture, Carious teeth, Enamel ... |
OMIM:216400 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Congenital Disorder Of Glycosylation, Type Iim |
|
High palate, Short philtrum, Enamel hypoplasia, Exaggerated cupid's bow, Open mouth, Thick vermil... |
OMIM:300896 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypocalcification of dental enamel, Amelogenesis imperfecta |
ORPHA:169090 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... |
OMIM:265800 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the zygomatic bone, Abnor... |
ORPHA:1812 |
Sanjad-Sakati Syndrome |
|
Thin vermilion border, Abnormality of the dentition, Micrognathia, Long philtrum, Abnormal dental... |
ORPHA:2323 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Atrophic scars, Scarring |
ORPHA:79396 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... |
OMIM:619269 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Prema... |
OMIM:248370 |
Cenani-Lenz Syndrome |
|
Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Abnormal dental enamel morphology |
ORPHA:3258 |
Koolen-De Vries Syndrome |
|
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... |
ORPHA:96169 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... |
ORPHA:363417 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Amelogenesis imperfecta |
OMIM:610319 |
Dyskeratosis Congenita |
|
Periodontitis, Taurodontia, Hypodontia, Abnormality of the dentition, Carious teeth, Hypoplasia o... |
ORPHA:1775 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Long philtrum, Enamel agenesis... |
OMIM:614701 |
Codas Syndrome |
|
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele |
OMIM:600373 |
Cranioectodermal Dysplasia 1 |
|
High palate, Anodontia, High, narrow palate, Hypodontia, Everted lower lip vermilion, Inguinal he... |
OMIM:218330 |
Nail-Patella Syndrome |
|
Flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Enamel hypop... |
ORPHA:2614 |
Costello Syndrome |
|
Narrow palate, Macroglossia, Abnormality of the dentition, Abnormal dental enamel morphology, Thi... |
ORPHA:3071 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... |
ORPHA:861 |
Congenital Erythropoietic Porphyria |
|
Scarring, Scarring alopecia of scalp, Erythrodontia, Increased connective tissue |
ORPHA:79277 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Wide mouth, Cleft palate, Malar flattening, Micrognathia, Thick vermi... |
ORPHA:85199 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening |
OMIM:613848 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
3M Syndrome |
|
Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve... |
ORPHA:2616 |
Seckel Syndrome |
|
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:808 |
Rothmund-Thomson Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Abnormality of the dentition, Delayed eru... |
ORPHA:2909 |
Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion |
OMIM:614099 |
Lacrimoauriculodentodigital Syndrome |
|
Hypodontia, Abnormality of the dentition, Micrognathia, Microdontia, Bifid uvula, Abnormal saliva... |
ORPHA:2363 |
Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Inguinal hernia, Cleft palate, Failure of eruption of permanent teeth |
OMIM:272460 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micrognathia, Bifid uvula, Hypoplasia of the tooth germ, Contracture of the proximal interphalang... |
ORPHA:293967 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,... |
OMIM:180849 |
Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Inguinal hernia, Clef... |
OMIM:603457 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dental malocclusion, Abnormal number of teeth, Agenesis of p... |
ORPHA:191 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Supernumerary tooth, Micrognathia, Agenesis of permanent teeth, Delayed eruption of ... |
OMIM:268400 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... |
ORPHA:2750 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... |
ORPHA:1299 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I... |
ORPHA:2409 |
Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Flexion contracture, Carious teeth |
ORPHA:90324 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79443 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology |
ORPHA:251004 |
Focal Dermal Hypoplasia |
|
Tooth agenesis, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Open bite, I... |
ORPHA:2092 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
Focal Dermal Hypoplasia |
|
Cleft upper lip, Dental malocclusion, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal he... |
OMIM:305600 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Periodontitis, Flexion contracture, Camptodactyly of finger, Premature loss of primary... |
ORPHA:2908 |
Lacrimoauriculodentodigital Syndrome |
|
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Carious teeth, Enamel hypoplas... |
OMIM:149730 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Tooth agenesis, Cleft palate, Abnormality of the dentition, Microdontia, Delayed eru... |
ORPHA:221016 |
Incontinentia Pigmenti |
|
Hypodontia, Camptodactyly of finger, Delayed eruption of teeth, Oral cleft, Umbilical hernia, Abn... |
ORPHA:464 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Narrow mouth, Hip contracture, Reduced subcutaneous adipose tissue, Flex... |
OMIM:619503 |
Rothmund-Thomson Syndrome Type 1 |
|
Tooth agenesis, Abnormality of the dentition, Delayed eruption of teeth, Microdontia, Carious tee... |
ORPHA:221008 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, High, narrow palate, Cleft palate, Inguinal hernia, Bifid uvula, Femoral hernia, Faci... |
ORPHA:2658 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa |
ORPHA:79404 |
Tooth Agenesis, Selective, 4 |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Peg-shaped maxillary l... |
OMIM:150400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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High palate, Multiple joint contractures, Dentinogenesis imperfecta, Micrognathia, Long philtrum,... |
ORPHA:536467 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Dental malocclusion, Carious teeth, Atypical scarring of ski... |
OMIM:133540 |
Hypophosphatemic Rickets |
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Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Odontodysplasia, ... |
ORPHA:437 |
Lowe Oculocerebrorenal Syndrome |
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Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand |
OMIM:309000 |
X-Linked Hypophosphatemia |
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Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
Stickler Syndrome |
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Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Micrognathia, Malar flatt... |
ORPHA:828 |
Osteogenesis Imperfecta, Type Viii |
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Dentinogenesis imperfecta, Inguinal hernia |
OMIM:610915 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... |
ORPHA:438216 |
Smith-Lemli-Opitz Syndrome |
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Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Congenital diaphragmatic he... |
ORPHA:818 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Gingival overgrowth, Narrow mouth, Narrow palate, Joint contracture of the hand, Malar flattening... |
OMIM:235510 |
Tuberous Sclerosis 1 |
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Shagreen patch, Gingival fibromatosis, Dental enamel pits |
OMIM:191100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Odontoonychodermal Dysplasia |
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Widely spaced primary teeth, Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality ... |
OMIM:257980 |
Hermansky-Pudlak Syndrome |
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Abnormal dental enamel morphology |
ORPHA:79430 |
22Q11.2 Deletion Syndrome |
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Narrow mouth, Malar flattening, Inguinal hernia, Cleft palate, Abnormality of the dentition, Shor... |
ORPHA:567 |
Tetrasomy 9P |
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High palate, Abnormal number of permanent teeth, Cleft palate, Micrognathia, Short philtrum, Bifi... |
ORPHA:3310 |
Ellis Van Creveld Syndrome |
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Hypodontia, Thin vermilion border, Abnormality of the dentition, Delayed eruption of teeth, Micro... |
ORPHA:289 |
Pallister-Killian Syndrome |
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Alveolar ridge overgrowth, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Flexion con... |
OMIM:601803 |
Familial Adenomatous Polyposis |
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Eruption failure, Lipoma, Abnormal cementum morphology, Supernumerary tooth, Abnormality of the d... |
ORPHA:733 |
Microphthalmia With Linear Skin Defects Syndrome |
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Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Mandibular aplasia, Abnormal dental ... |
ORPHA:2556 |
Alström Syndrome |
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Tooth agenesis, Recurrent sinusitis, Gingivitis, Dorsocervical fat pad, Abnormality of dental color |
ORPHA:64 |
Singleton-Merten Syndrome 1 |
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Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up... |
OMIM:182250 |
Williams Syndrome |
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Wide mouth, Dental malocclusion, Gingival overgrowth, Hypodontia, Inguinal hernia, Open bite, Eve... |
ORPHA:904 |
Proximal Renal Tubular Acidosis |
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Enamel hypomineralization |
ORPHA:47159 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Cheilitis, Inguinal hernia, Camptodactyly of finger, Omphalocele, Abnormal dental enamel morphology |
ORPHA:2273 |
Proteus Syndrome |
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Lipoma, Tooth agenesis, Carious teeth, Abnormal subcutaneous fat tissue distribution, Abnormal de... |
ORPHA:744 |
Non-Specific Syndromic Intellectual Disability |
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High palate, Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Incisor macrodonti... |
ORPHA:528084 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Dental malocclusion, Narrow palate, Supernumerary tooth, Hypodontia, Carious teeth, Keloids, Nata... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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High palate, Dental malocclusion, Corneal scarring, Narrow palate, Supernumerary tooth, Hypodonti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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High palate, Dental malocclusion, Corneal scarring, Narrow palate, Supernumerary tooth, Hypodonti... |
ORPHA:353277 |
Peters-Plus Syndrome |
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Cleft upper lip, Cleft palate, Thin vermilion border, Micrognathia, Long philtrum, Short lingual ... |
OMIM:261540 |
Johanson-Blizzard Syndrome |
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Agenesis of permanent teeth, Hypoplasia of the primary teeth |
OMIM:243800 |