Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue |
OMIM:226670 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia |
ORPHA:99329 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... |
OMIM:613823 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia |
OMIM:212780 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... |
OMIM:619980 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79409 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia |
ORPHA:557003 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Decreased response to growth hormone stimul... |
ORPHA:2980 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... |
OMIM:619293 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo... |
OMIM:619184 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
Ohdo Syndrome |
|
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... |
OMIM:249620 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... |
OMIM:210600 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... |
ORPHA:10 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Widely spaced teeth, Yellow-brown ... |
OMIM:619229 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Shagreen patch |
ORPHA:1816 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... |
OMIM:620250 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth |
OMIM:146300 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Conical tooth |
OMIM:617475 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Temtamy Syndrome |
|
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia |
OMIM:218340 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth |
ORPHA:2728 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... |
OMIM:259775 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... |
ORPHA:2916 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... |
ORPHA:3253 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring |
OMIM:610965 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Corneal scarring, Atypical... |
OMIM:263700 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum |
OMIM:312830 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy... |
OMIM:617052 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology |
ORPHA:1390 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Abnormality of dental color |
OMIM:163200 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia |
OMIM:243150 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Carious teeth, Limb joint contracture, Hypodontia |
OMIM:612079 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... |
OMIM:601701 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ... |
OMIM:253000 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ... |
OMIM:253010 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Enamel hypoplasia, Retrognathia |
OMIM:210720 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor... |
ORPHA:2323 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon... |
ORPHA:1812 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion... |
OMIM:151050 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening |
ORPHA:3258 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum |
OMIM:614856 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Small for gestational ag... |
ORPHA:666 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Scarring, Anisocytosis, Increased connective ti... |
ORPHA:79277 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m... |
ORPHA:85199 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin... |
OMIM:248370 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia |
OMIM:613680 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate... |
OMIM:614701 |
Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Scarring, Scarring alopecia of scalp, Splenomegaly, Erythroid hy... |
ORPHA:95159 |
3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Failure to ... |
OMIM:612714 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate |
OMIM:272460 |
Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala... |
ORPHA:96169 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ... |
OMIM:216400 |
Cranioectodermal Dysplasia 3 |
|
Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia |
OMIM:614099 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ... |
ORPHA:293967 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili... |
OMIM:218330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology |
ORPHA:251004 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
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Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
Lelis Syndrome |
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Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
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Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro... |
OMIM:272430 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Enamel hypomineralization |
OMIM:307800 |
Rothmund-Thomson Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
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Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
Bent Bone Dysplasia Syndrome 1 |
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Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Oculodentodigital Dysplasia |
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Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
Orofaciodigital Syndrome Xix |
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Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... |
OMIM:620107 |
Pachyonychia Congenita 2 |
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Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
Rothmund-Thomson Syndrome, Type 2 |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Pseudohypoparathyroidism Type 1A |
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Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Orofaciodigital Syndrome Type 1 |
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Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
Osteogenesis Imperfecta, Type X |
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Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia |
OMIM:613848 |
Osteopetrosis, Autosomal Recessive 2 |
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Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Branchioskeletogenital Syndrome |
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Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
Rubinstein-Taybi Syndrome 1 |
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Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:180849 |
Cockayne Syndrome Type 3 |
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Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
Osteogenesis Imperfecta, Type Viii |
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Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Cockayne Syndrome |
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Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Kindler Epidermolysis Bullosa |
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Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari... |
ORPHA:2908 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Focal Dermal Hypoplasia |
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Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... |
ORPHA:2092 |
Tuberous Sclerosis 1 |
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Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
Trichodermodysplasia-Dental Alterations Syndrome |
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Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Microdontia, Pulp calcification |
OMIM:606895 |
Rothmund-Thomson Syndrome Type 2 |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
Eec Syndrome |
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Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ... |
ORPHA:1896 |
Rothmund-Thomson Syndrome Type 1 |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ... |
ORPHA:2658 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Congenital contracture, Micrognathia |
OMIM:619036 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Focal Dermal Hypoplasia |
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Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u... |
OMIM:305600 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology |
ORPHA:79404 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand |
OMIM:309000 |
X-Linked Hypophosphatemia |
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Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
Oculocerebrorenal Syndrome Of Lowe |
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Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Inguinal hernia, Den... |
OMIM:619503 |
Alström Syndrome |
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Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... |
ORPHA:64 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt... |
ORPHA:536467 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Hermansky-Pudlak Syndrome |
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Abnormal dental enamel morphology |
ORPHA:79430 |
Cockayne Syndrome B |
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Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca... |
OMIM:133540 |
Turnpenny-Fry Syndrome |
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Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
Smith-Lemli-Opitz Syndrome |
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Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M... |
ORPHA:818 |
Osteogenesis Imperfecta, Type Vii |
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Dentinogenesis imperfecta, Long philtrum |
OMIM:610682 |
Familial Adenomatous Polyposis 1 |
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Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
Familial Adenomatous Polyposis |
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Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
Tetrasomy 9P |
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Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
22Q11.2 Deletion Syndrome |
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Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C... |
ORPHA:567 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
Kindler Syndrome |
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Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis |
OMIM:173650 |
Proteus Syndrome |
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Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Carious tee... |
ORPHA:744 |
Proximal Renal Tubular Acidosis |
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Enamel hypomineralization |
ORPHA:47159 |
Ramon Syndrome |
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Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla... |
ORPHA:2556 |
Pallister-Killian Syndrome |
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Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt... |
OMIM:601803 |
Williams Syndrome |
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Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope... |
ORPHA:904 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis |
ORPHA:2273 |
Johanson-Blizzard Syndrome |
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Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen... |
OMIM:243800 |