| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| 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 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
| Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
| Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Death in childhood, Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth |
OMIM:226650 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth |
OMIM:217150 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp |
OMIM:619787 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2026 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
| Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
| Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
| Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
| Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp |
ORPHA:79402 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
| Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, High palate |
OMIM:617915 |
| 17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... |
ORPHA:1193 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition |
ORPHA:1811 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... |
ORPHA:2325 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Pyle Disease |
|
Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absent paranasal s... |
OMIM:265900 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored lateral inci... |
OMIM:601668 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth |
ORPHA:99811 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth |
ORPHA:248 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth |
OMIM:141300 |
| Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Umbilical hernia |
OMIM:606893 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79405 |
| Catifa Syndrome |
|
Long philtrum, Delayed eruption of teeth, Camptodactyly, Inguinal hernia, Cleft lip, Cleft palate... |
OMIM:618761 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar |
OMIM:604625 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... |
ORPHA:251393 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Shagreen patch, Delayed eruption of teeth |
ORPHA:1816 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... |
OMIM:234250 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth |
OMIM:614564 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth |
ORPHA:181 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... |
OMIM:613849 |
| Filippi Syndrome |
|
Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,... |
OMIM:272440 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth |
ORPHA:3019 |
| Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... |
OMIM:618729 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... |
OMIM:618363 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp |
OMIM:226670 |
| Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... |
ORPHA:166108 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus |
OMIM:146750 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
| Cranioectodermal Dysplasia |
|
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... |
ORPHA:1515 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79411 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Pruritus |
ORPHA:139414 |
| Clark-Baraitser syndrome |
|
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... |
OMIM:300602 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Dentinogenesis imperfecta |
OMIM:604922 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... |
OMIM:619719 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
| Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Dental malocclusion, Talon cusp, Narrow palate, High palate, Micrognathia, Carious ... |
OMIM:613684 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morphology, Solitar... |
ORPHA:952 |
| 48,Xyyy Syndrome |
|
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth |
ORPHA:99329 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate |
OMIM:615502 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema |
OMIM:302350 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis |
OMIM:613000 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Atkin-Flaitz Syndrome |
|
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... |
OMIM:300431 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Widely spaced teeth |
OMIM:613573 |
| Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth |
ORPHA:181393 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp |
OMIM:612843 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border |
OMIM:601957 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus |
ORPHA:735 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border |
OMIM:618506 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition |
ORPHA:3238 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Delayed eruption of teeth, Mic... |
ORPHA:2863 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth |
ORPHA:3145 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... |
OMIM:613823 |
| Eem Syndrome |
|
Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of dental morphology, Car... |
ORPHA:1897 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia |
ORPHA:3214 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... |
OMIM:619736 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Taurodontia |
OMIM:211900 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Microdontia, Diastema, Cleft palate |
OMIM:605282 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Micrognathia, Hypodontia, Malar flattening, Premature loss of permanent teeth |
OMIM:212780 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilion border |
OMIM:620114 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
| Momo Syndrome |
|
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... |
OMIM:157980 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s... |
OMIM:253250 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am... |
OMIM:204690 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Oligodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology |
ORPHA:59303 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Inguinal hernia, Ca... |
ORPHA:10 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Dental crowding |
OMIM:618825 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci... |
OMIM:618727 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia |
OMIM:618205 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Oligodontia, Natal tooth |
OMIM:601345 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup... |
ORPHA:69087 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Laron Syndrome |
|
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth |
ORPHA:633 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79409 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Abnormality of the dentition |
OMIM:610968 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, High palate, Thick lower lip vermilion, Micrognathia, Hypodontia, Short philtrum, E... |
OMIM:618342 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Miscarriage, Contact dermatitis, Follicular hyperk... |
ORPHA:3406 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microdontia, Narrow mouth, Delayed eruption of permanent teeth, Open mouth |
OMIM:619356 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Broad alveolar ridges, Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent ... |
OMIM:218400 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up... |
OMIM:619980 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Short phil... |
ORPHA:137834 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... |
OMIM:618067 |
| Jalili Syndrome |
|
Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:217080 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
| Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption of primary teeth,... |
ORPHA:90322 |
| Qazi-Markouizos Syndrome |
|
Open mouth, High, narrow palate, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Aredyld Syndrome |
|
Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot... |
ORPHA:1133 |
| Cole-Carpenter Syndrome 1 |
|
Micrognathia, Microdontia, Dentinogenesis imperfecta |
OMIM:112240 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth, Atypical scarri... |
ORPHA:79410 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,... |
ORPHA:884 |
| Pycnodysostosis |
|
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... |
OMIM:265800 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Hypoplasia of ... |
ORPHA:363417 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Arthrogryposis multiplex congenita |
OMIM:226730 |
| Osteoglosphonic Dysplasia |
|
Inguinal hernia, Micrognathia, Multiple unerupted teeth, Tooth agenesis |
ORPHA:2645 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition |
ORPHA:557003 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition |
ORPHA:1858 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Cleft palate, Short philtrum, Scarring alopecia of scalp, Natal tooth |
OMIM:617337 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum |
ORPHA:88630 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Widely spaced teeth |
OMIM:616108 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Narrow palate, Micrognathia, Inguinal hernia, Abnormal palate morphol... |
ORPHA:2063 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho... |
ORPHA:3220 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1782 |
| Cherubism |
|
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Macular scar, Alveolar ridge overg... |
OMIM:118400 |
| Usher Syndrome Type 2 |
|
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:231178 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... |
OMIM:616367 |
| Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth |
OMIM:619797 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delayed eruption of t... |
ORPHA:2563 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... |
OMIM:129400 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of primary teeth, Chondrocalcinosis, Premature loss of permanent teeth |
OMIM:146300 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth |
OMIM:184260 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Bent Bone Dysplasia Syndrome 1 |
|
Micrognathia, Malar flattening, Gingival overgrowth, Natal tooth |
OMIM:614592 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Taurodontia, Smooth philtrum |
OMIM:614378 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Angular cheilitis, Natal tooth |
OMIM:167210 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, Mandibular prognathia, High palate |
OMIM:262190 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Bilateral cleft lip and palate |
ORPHA:1997 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Hall-Riggs Syndrome |
|
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho... |
ORPHA:2107 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate... |
OMIM:618874 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... |
ORPHA:2409 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Oral muco... |
OMIM:226600 |
| Char Syndrome |
|
No permanent dentition, Short philtrum, Everted lower lip vermilion, Persistence of primary teeth... |
ORPHA:46627 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
| Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Inguinal hern... |
OMIM:614608 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, E... |
OMIM:614753 |
| Orofacial Cleft 15 |
|
Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip |
OMIM:616788 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Death in infancy, Lymphopenia, Im... |
OMIM:243150 |
| Ohdo Syndrome |
|
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... |
OMIM:249620 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, High palate, Natal tooth, Absent paranasal sinuses, Microdontia, Dental cr... |
OMIM:269300 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand |
OMIM:113000 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Microdontia, Short nose, Hypoplasia of the maxilla, Tooth agenesis, Cleft ... |
ORPHA:1248 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, High palate, Thin upper lip vermilion, Tented upper lip vermilion, Abnormali... |
ORPHA:438216 |
| Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... |
ORPHA:50814 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Dental malocclusion, Mandibular prognathia, High palate, Abnormality of ... |
ORPHA:1327 |
| Classic Mycosis Fungoides |
|
Abnormal eyelid morphology, Pruritus, Skin rash, Eczema, Edema, Lymphadenopathy, Hyperkeratosis, ... |
ORPHA:2584 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Microdontia, Supernumerary tooth, Diastema |
OMIM:619718 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Microretrognathia |
OMIM:616294 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Inguinal hernia, Carious teeth, Cl... |
ORPHA:96263 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowding, Cleft palate,... |
OMIM:619184 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Macroglossia, Dental crowdi... |
OMIM:616354 |
| Tooth Agenesis, Selective, 4 |
|
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... |
OMIM:150400 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Dental malocclusion, High palate, Joint contracture of the hand, Delayed... |
OMIM:612350 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... |
OMIM:170390 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Natal tooth, Short philtrum, Cleft palate |
OMIM:201050 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... |
OMIM:619293 |
| Coffin-Siris Syndrome 2 |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Sho... |
OMIM:614607 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Death in childhood, Splenomegaly |
OMIM:619164 |
| Immunodeficiency 9 |
|
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis |
OMIM:612782 |
| Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
| Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Short philtrum, Hypoplasia of t... |
OMIM:216550 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:312863 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Malar flattening, Mandibular prognathia, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
| Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Umbilical hernia |
OMIM:619769 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
| Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Long philtrum, Delayed eruption of teeth |
ORPHA:263463 |
| Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... |
ORPHA:3134 |
| Temple-Baraitser Syndrome |
|
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E... |
ORPHA:420561 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... |
ORPHA:364028 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower... |
ORPHA:915 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Hypodontia, Reduced subcutaneous adipose tissue, Limb joint contracture |
OMIM:612079 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth |
ORPHA:3353 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... |
ORPHA:96264 |
| Pycnodysostosis |
|
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... |
ORPHA:763 |
| Trisomy 9P |
|
Non-midline cleft lip, Downturned corners of mouth, Impacted tooth, Dental crowding |
ORPHA:236 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth |
OMIM:616901 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ... |
ORPHA:2712 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
| Codas Syndrome |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1458 |
| Cole-Carpenter Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2050 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia |
ORPHA:1390 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, Micrognathia, Elbo... |
OMIM:210600 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Taurodon... |
ORPHA:819 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular prognathia, Persistence of primary teeth, Mandibular osteomyelitis |
OMIM:259710 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... |
OMIM:214150 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Three M Syndrome 2 |
|
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Thi... |
OMIM:612921 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar... |
ORPHA:199302 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Narrow mouth, Narrow palate, Thick lower lip vermilion |
ORPHA:457365 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border |
OMIM:614856 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus |
OMIM:617571 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor |
OMIM:616202 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth |
OMIM:614381 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture |
OMIM:259610 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Specific Granule Deficiency 2 |
|
Conical tooth, Amelogenesis imperfecta, Tooth malposition |
OMIM:617475 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth |
OMIM:156510 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Absent eyelashes, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, P... |
OMIM:602540 |
| Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hernia, Micrognathia, Hypodontia, Microdontia, Amelogenesis imperfecta |
OMIM:617052 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Persistence of primary teeth, High palate, Supernumerary tooth |
OMIM:619752 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Reduced subcutaneo... |
OMIM:619322 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
| Temtamy Syndrome |
|
Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth |
OMIM:218340 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Odontogenic keratocysts of the jaw, Increased adipose tissue, Premature eruption o... |
ORPHA:199276 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger |
ORPHA:1883 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Hypoplasia of teeth, Cleft palate, Widely spaced teeth |
ORPHA:2728 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Oligodontia, Delayed eruption of teeth |
ORPHA:447896 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... |
OMIM:208900 |
