| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Diastema, Dental Medial |
|
Widely-spaced maxillary central incisors, Diastema |
OMIM:125900 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Microdontia, Widely spaced teeth |
OMIM:190320 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Junctional Epidermolysis Bullosa Inversa |
|
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79405 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Scarring alopecia of scalp, Carious teeth |
OMIM:619787 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
| Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border |
ORPHA:139474 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Carious teeth, Enamel hypoplasia |
OMIM:226700 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel |
OMIM:203550 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... |
ORPHA:251393 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Osteomas Of Mandible |
|
Abnormal mandible morphology |
OMIM:166400 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... |
ORPHA:2325 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia |
OMIM:226670 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... |
OMIM:234250 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
| Trichodental Dysplasia |
|
Hypodontia, Conical tooth, Odontodysplasia |
OMIM:601453 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| 48,Xyyy Syndrome |
|
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate |
ORPHA:99329 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... |
OMIM:618363 |
| Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:231178 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... |
OMIM:601216 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Widely spaced teeth |
OMIM:613573 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... |
ORPHA:1515 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:3019 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia |
OMIM:612843 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... |
OMIM:618729 |
| Sjogren-Larsson Syndrome |
|
Flexion contracture, Enamel hypoplasia |
OMIM:270200 |
| Filippi Syndrome |
|
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... |
OMIM:272440 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... |
OMIM:618761 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... |
OMIM:619719 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Seckel Syndrome 5 |
|
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... |
OMIM:613823 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia |
OMIM:606893 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... |
ORPHA:166108 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... |
OMIM:300602 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar |
OMIM:302350 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... |
OMIM:613684 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia |
OMIM:610706 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate |
OMIM:615502 |
| Cenani-Lenz Syndactyly Syndrome |
|
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth |
OMIM:212780 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth, Shagreen patch |
ORPHA:1816 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
| Mulibrey Nanism |
|
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... |
OMIM:253250 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia |
ORPHA:59303 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate |
OMIM:618205 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Atrophic scars, Carious teeth, Oral mucosal blisters |
ORPHA:79411 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia |
ORPHA:181 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... |
OMIM:618727 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum |
ORPHA:3010 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... |
OMIM:619980 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia |
ORPHA:557003 |
| Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... |
ORPHA:1897 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... |
ORPHA:10 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Carious teeth, Abnormal palate morphology |
ORPHA:3270 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate |
OMIM:605282 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum |
ORPHA:3214 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... |
ORPHA:952 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... |
ORPHA:90322 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Hypoplasia of teeth, Flexion contracture, Accessory oral frenulum |
ORPHA:88630 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth |
ORPHA:2501 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border |
OMIM:618506 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva |
ORPHA:517 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ... |
ORPHA:2863 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... |
OMIM:618874 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth, Omphalocele |
OMIM:614450 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate |
OMIM:613849 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth |
ORPHA:1656 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... |
ORPHA:3220 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion... |
OMIM:226600 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... |
ORPHA:1133 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Usher Syndrome |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:886 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... |
OMIM:619736 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Mandibular prognathia, Dental malocclusion |
OMIM:618292 |
| Ohdo Syndrome |
|
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... |
OMIM:249620 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Cranioectodermal Dysplasia 4 |
|
Taurodontia, Smooth philtrum, Thin vermilion border |
OMIM:614378 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Long philtrum, Narrow mouth, Oligodontia, T... |
OMIM:618092 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth |
OMIM:618825 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... |
OMIM:618067 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... |
OMIM:129400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening |
ORPHA:2180 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:1782 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm... |
OMIM:619184 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion |
ORPHA:1858 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:363417 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... |
ORPHA:2107 |
| Scarf Syndrome |
|
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Laron Syndrome |
|
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia |
ORPHA:633 |
| Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... |
OMIM:614669 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Widely spaced teeth |
OMIM:616108 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth |
OMIM:619356 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
| Mucopolysaccharidosis Type 4 |
|
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... |
ORPHA:582 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Natal tooth, Oligodontia |
OMIM:601345 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta |
OMIM:613982 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow, Microdontia, Thin upper lip ve... |
OMIM:619293 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Splenomegaly, Thin upper l... |
OMIM:616651 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Dental crowding, Eosinophilia, Thoracolumbar scoliosis, Macroglossia, Scoliosis |
OMIM:618523 |
| Seckel Syndrome 1 |
|
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... |
OMIM:210600 |
| Acrootoocular Syndrome |
|
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... |
ORPHA:2980 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Bilateral cleft palate |
ORPHA:1997 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... |
OMIM:618342 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Abnormal dental morphology |
OMIM:163200 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Ging... |
ORPHA:137834 |
| Specific Granule Deficiency 2 |
|
Tooth malposition, Conical tooth, Amelogenesis imperfecta |
OMIM:617475 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Micrognathia, Microdontia |
OMIM:112240 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... |
OMIM:218400 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... |
OMIM:170390 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Inguinal ... |
ORPHA:96263 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth |
OMIM:146300 |
| Temtamy Syndrome |
|
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum |
OMIM:218340 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia |
OMIM:619718 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... |
ORPHA:50814 |
| Kilquist Syndrome |
|
Hypoplasia of teeth, Mandibular prognathia, Wide mouth |
OMIM:619080 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ... |
ORPHA:438216 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... |
ORPHA:763 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion |
OMIM:619797 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Hepatosplenomegaly, Thin u... |
ORPHA:353298 |
| Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
| Trisomy 4P |
|
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Abnormal palate morphology,... |
ORPHA:1738 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia |
ORPHA:2728 |
| Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
| Osteoglosphonic Dysplasia |
|
Multiple unerupted teeth, Micrognathia, Inguinal hernia, Tooth agenesis |
ORPHA:2645 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Andersen-Tawil Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... |
ORPHA:37553 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... |
ORPHA:2686 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
| Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
| Cerebellofaciodental Syndrome |
|
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion |
OMIM:616202 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition |
OMIM:615802 |
| Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Gingivitis |
ORPHA:3194 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture |
OMIM:612079 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... |
ORPHA:364028 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96264 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:603909 |
| Knobloch Syndrome 2 |
|
Micrognathia, Enamel hypoplasia |
OMIM:618458 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... |
OMIM:616367 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... |
ORPHA:2409 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia |
OMIM:608931 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion |
OMIM:615541 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Congenital diaphragmatic hernia, Abnormal palate morphology, Inguin... |
ORPHA:2063 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia |
ORPHA:1390 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
| Orofacial Cleft 15 |
|
Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral... |
OMIM:616788 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Codas Syndrome |
|
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth |
ORPHA:1458 |
| Bent Bone Dysplasia Syndrome 1 |
|
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth |
OMIM:614592 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... |
OMIM:150400 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... |
ORPHA:2916 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion |
ORPHA:457365 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T... |
OMIM:620250 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Scarring alopecia of scalp, Natal tooth, Cleft palate |
OMIM:617337 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Oral ulcer, Lymphadenopathy |
OMIM:608971 |
| Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Grayish enamel, Wide mouth, Inguinal hernia, Mandibular progn... |
OMIM:253000 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, Thrombocytopenia,... |
OMIM:226990 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
| Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Premature loss of teeth |
OMIM:610965 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... |
OMIM:602483 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp... |
ORPHA:199302 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Mandibuloacral Dysplasia |
|
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... |
ORPHA:2457 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Craniometadiaphyseal Dysplasia |
|
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... |
OMIM:269300 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... |
ORPHA:819 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi... |
OMIM:164200 |
| Short Syndrome |
|
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... |
ORPHA:3163 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... |
ORPHA:444463 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... |
ORPHA:3253 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Torus palatinus, Dental malocclusion |
OMIM:144750 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
| Acrofacial Dysostosis, Catania Type |
|
Micrognathia, Carious teeth, Malar flattening, Cleft palate |
OMIM:101805 |
| Coffin-Siris Syndrome 3 |
|
Long philtrum, Umbilical hernia, Delayed eruption of permanent teeth, Inguinal hernia, Thick verm... |
OMIM:614608 |
| Char Syndrome |
|
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... |
ORPHA:46627 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... |
OMIM:619229 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos... |
OMIM:617237 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Scarf Syndrome |
|
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia |
OMIM:312830 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... |
OMIM:616354 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout... |
ORPHA:1327 |
| Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis |
OMIM:612782 |
| Hamamy Syndrome |
|
Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo... |
OMIM:611174 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ... |
ORPHA:90321 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Recurrent aphthous stomatitis, Oral ulcer,... |
ORPHA:486 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Joint contracture of the hand, Delayed eruption of permanent teeth |
OMIM:113000 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Widely spaced teeth, Grayish enamel, Wide mouth, Inguinal hernia, Mandibular progn... |
OMIM:253010 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t... |
OMIM:620545 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Ingu... |
OMIM:614607 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mout... |
OMIM:259775 |
| Zimmermann-Laband Syndrome |
|
Bifid uvula, Abnormal external genitalia, Micrognathia, Anterior open-bite malocclusion, Splenome... |
ORPHA:3473 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Cigar... |
OMIM:612350 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Flexion contracture, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decr... |
OMIM:608612 |
| Mcdonough Syndrome |
|
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short philtrum, Mandibu... |
ORPHA:2471 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis |
ORPHA:808 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of primary teeth, Dental crowding, Umbilical hernia |
OMIM:619769 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Retrognathia |
OMIM:234050 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Microretrognathia |
OMIM:616294 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology |
ORPHA:1334 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Omphalocele |
OMIM:243150 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth |
OMIM:616901 |
| Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
| Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ... |
ORPHA:444072 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... |
ORPHA:420561 |
| Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum |
OMIM:184260 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Atypical scarring of skin, Keloids, Carious teeth, Atrophic scars, Oral mucosal blisters |
ORPHA:79410 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... |
OMIM:601701 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Open bite, Micrognathia, Abnormal palate morphology, Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| Aarskog-Scott Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... |
ORPHA:915 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Hypodontia, Conical tooth, Carious teeth, Microdontia |
OMIM:620192 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis |
OMIM:259710 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
| Trisomy 9P |
|
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth |
ORPHA:236 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... |
ORPHA:73223 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... |
OMIM:603554 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... |
OMIM:214150 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
| Bone Marrow Failure Syndrome 3 |
|
Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene... |
OMIM:617052 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Dorsocervical fat pad, Ol... |
ORPHA:391408 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... |
OMIM:257980 |
| Three M Syndrome 2 |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... |
OMIM:612921 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... |
ORPHA:331206 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio... |
ORPHA:2712 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia |
ORPHA:627 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Abnormality of the dentition, Cutaneous abscess, Micrognathia, Recurrent sinusitis, Eosinophilia,... |
OMIM:618282 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
| Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia |
OMIM:212750 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... |
OMIM:619322 |
| Marshall Syndrome |
|
Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v... |
OMIM:154780 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly |
OMIM:608257 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Notched primary central incisor, Cleft lip |
OMIM:620519 |
| Congenital Syphilis |
|
Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun... |
ORPHA:499009 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Supernumerary tooth, Persistence of primary teeth |
OMIM:619752 |
| Cleidocranial Dysplasia 1 |
|
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... |
OMIM:119600 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Oral leukoplakia, Premature loss of teeth |
OMIM:616353 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
