| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Microdontia, Widely spaced teeth |
OMIM:190320 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Death in childhood, Hypoplasia of the thymus |
OMIM:200900 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Scarring alopecia of scalp, Carious teeth |
OMIM:619787 |
| Junctional Epidermolysis Bullosa Inversa |
|
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79405 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, 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 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
| 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 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
| Trichodental Dysplasia |
|
Hypodontia, Conical tooth, Odontodysplasia |
OMIM:601453 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| 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 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| 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 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel |
OMIM:203550 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... |
ORPHA:2325 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia |
OMIM:606893 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... |
OMIM:618761 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Epicanthus |
OMIM:616911 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia |
OMIM:226670 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... |
ORPHA:251393 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth, Shagreen patch |
ORPHA:1816 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... |
OMIM:234250 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... |
OMIM:618729 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia |
ORPHA:181 |
| Filippi Syndrome |
|
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... |
OMIM:272440 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:3019 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... |
OMIM:618363 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... |
OMIM:619719 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| 48,Xyyy Syndrome |
|
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate |
ORPHA:99329 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... |
OMIM:613684 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... |
ORPHA:166108 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia |
OMIM:610706 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... |
ORPHA:1515 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... |
OMIM:300602 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... |
OMIM:601216 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate |
OMIM:615502 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar |
OMIM:302350 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... |
ORPHA:952 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate |
OMIM:613849 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma |
OMIM:613000 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| 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 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia |
OMIM:612843 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Atrophic scars, Carious teeth, Oral mucosal blisters |
ORPHA:79411 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| 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 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, Abnormality of ... |
ORPHA:2863 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth, Omphalocele |
OMIM:614450 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Sjogren-Larsson Syndrome |
|
Flexion contracture, Enamel hypoplasia |
OMIM:270200 |
| Seckel Syndrome 5 |
|
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... |
OMIM:613823 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum |
ORPHA:3214 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... |
ORPHA:1897 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... |
OMIM:619736 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Cenani-Lenz Syndactyly Syndrome |
|
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth |
OMIM:212780 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate |
OMIM:605282 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... |
ORPHA:10 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia |
ORPHA:59303 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... |
OMIM:618727 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Carious teeth, Abnormal palate morphology |
ORPHA:3270 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Mulibrey Nanism |
|
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... |
OMIM:253250 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth |
OMIM:618825 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate |
OMIM:618205 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth |
ORPHA:1656 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Natal tooth, Oligodontia |
OMIM:601345 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth |
ORPHA:2501 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Death in infancy, ... |
OMIM:612782 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta |
OMIM:613982 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Contact dermatitis, Acn... |
ORPHA:3406 |
| Laron Syndrome |
|
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia |
ORPHA:633 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth |
OMIM:619356 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Micrognathia, Microdontia |
OMIM:112240 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... |
OMIM:619980 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... |
OMIM:618342 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum |
ORPHA:3010 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Wide mouth, Gingival overgr... |
ORPHA:137834 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... |
ORPHA:90322 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... |
OMIM:618067 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:231178 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Mandibular prognathia, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:363417 |
| Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia |
ORPHA:557003 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... |
OMIM:218400 |
| Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Mandibular prognathia, Dental malocclusion |
OMIM:618292 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Osteoglosphonic Dysplasia |
|
Multiple unerupted teeth, Micrognathia, Inguinal hernia, Tooth agenesis |
ORPHA:2645 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion |
OMIM:619797 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum |
ORPHA:88630 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion |
ORPHA:1858 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... |
OMIM:614669 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Scarring alopecia of scalp, Natal tooth, Cleft palate |
OMIM:617337 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... |
OMIM:616367 |
| Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Widely spaced teeth |
OMIM:616108 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Congenital diaphragmatic hernia, Inguinal hernia, Abnormal palate m... |
ORPHA:2063 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... |
ORPHA:3220 |
| Bent Bone Dysplasia Syndrome 1 |
|
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth |
OMIM:614592 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... |
OMIM:618874 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:1782 |
| Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
| Cranioectodermal Dysplasia 4 |
|
Taurodontia, Smooth philtrum, Thin vermilion border |
OMIM:614378 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis |
ORPHA:79503 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... |
ORPHA:2107 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Hypophosphatasia, Adult |
|
Carious teeth, Chondrocalcinosis, Premature loss of primary teeth, Premature loss of permanent teeth |
OMIM:146300 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum |
OMIM:184260 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... |
OMIM:129400 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Bilateral cleft palate |
ORPHA:1997 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion... |
OMIM:226600 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... |
OMIM:603554 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... |
ORPHA:2409 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
| Char Syndrome |
|
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... |
ORPHA:46627 |
| Coffin-Siris Syndrome 3 |
|
Long philtrum, Umbilical hernia, Wide mouth, Inguinal hernia, Thick vermilion border, Macroglossi... |
OMIM:614608 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia |
OMIM:619718 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Inguinal ... |
ORPHA:96263 |
| Maxillonasal Dysplasia |
|
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Short nose, Mandibular prognat... |
ORPHA:1248 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Death in childhood, Death in infancy, Aga... |
OMIM:243150 |
| 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 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... |
OMIM:616354 |
| Craniometadiaphyseal Dysplasia |
|
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... |
OMIM:269300 |
| Ohdo Syndrome |
|
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... |
OMIM:249620 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Joint contracture of the hand, Delayed eruption of permanent teeth |
OMIM:113000 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... |
ORPHA:50814 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Microretrognathia |
OMIM:616294 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout... |
ORPHA:1327 |
| Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp... |
ORPHA:199302 |
| 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 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... |
ORPHA:364028 |
| Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Abnormal eyelid m... |
ORPHA:2584 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Ingu... |
OMIM:614607 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of primary teeth, Dental crowding, Umbilical hernia |
OMIM:619769 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Cigar... |
OMIM:612350 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
| Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... |
OMIM:150400 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... |
OMIM:170390 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid's bow, Microdontia, Thin ... |
OMIM:619293 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... |
ORPHA:420561 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96264 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla |
ORPHA:2776 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening |
ORPHA:2180 |
| Orofacial Cleft 15 |
|
Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral... |
OMIM:616788 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Scarf Syndrome |
|
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture |
OMIM:612079 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... |
ORPHA:763 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... |
OMIM:602483 |
| Aarskog-Scott Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... |
ORPHA:915 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... |
ORPHA:819 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
| Trisomy 9P |
|
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth |
ORPHA:236 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth |
OMIM:616901 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion |
ORPHA:457365 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Torus palatinus, Dental malocclusion |
OMIM:144750 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio... |
ORPHA:2712 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia |
ORPHA:1390 |
| Seckel Syndrome 1 |
|
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... |
OMIM:210600 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
| Codas Syndrome |
|
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth |
ORPHA:1458 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... |
OMIM:300918 |
| Immunodeficiency 104 |
|
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Splenomegaly, Lymphadenopathy, T lympho... |
OMIM:608971 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... |
OMIM:214150 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
| Cerebellofaciodental Syndrome |
|
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion |
OMIM:616202 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis |
OMIM:259710 |
| Three M Syndrome 2 |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... |
OMIM:612921 |
| Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Cleft palate |
OMIM:246560 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Specific Granule Deficiency 2 |
|
Tooth malposition, Conical tooth, Amelogenesis imperfecta |
OMIM:617475 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... |
OMIM:619322 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Premature eruption of permanent teeth, Increased adipose tissue, Odontogenic kerat... |
ORPHA:199276 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse... |
OMIM:602540 |
| Osteogenesis Imperfecta, Type Xiii |
|
Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia |
OMIM:614856 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Supernumerary tooth, Persistence of primary teeth |
OMIM:619752 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Thin vermilion border, Hypoplasia of the maxilla, Short philtrum, Premature loss of teeth |
OMIM:156510 |
| Temtamy Syndrome |
|
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum |
OMIM:218340 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t... |
OMIM:620545 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... |
OMIM:600002 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia |
ORPHA:2728 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted... |
OMIM:617865 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
