Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Unilateral vestibular Schwannoma, Amelogenesis imperfecta, Carcinoma |
OMIM:603641 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Carney Complex Variant |
|
Distal arthrogryposis, Cardiac myxoma, Trismus |
OMIM:608837 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia, Breast carcinoma |
OMIM:614564 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Exostoses |
ORPHA:1653 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Otodental Dysplasia |
|
Hypodontia, Pulp calcification, Taurodontia, Long philtrum |
OMIM:166750 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79405 |
Laryngoonychocutaneous Syndrome |
|
Amelogenesis imperfecta |
OMIM:245660 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia |
OMIM:202900 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding |
OMIM:600907 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... |
ORPHA:1946 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... |
OMIM:129540 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia |
OMIM:616029 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Steatocystoma multiplex |
OMIM:184510 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Fryns Macrocephaly |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... |
OMIM:600302 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... |
ORPHA:3352 |
Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
Jalili Syndrome |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:217080 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Atrophic scars, Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters |
ORPHA:79402 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Ameloonychohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... |
OMIM:104570 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Localized Junctional Epidermolysis Bullosa |
|
Limb joint contracture, Scarring alopecia of scalp, Enamel hypoplasia, Atypical scarring of skin,... |
ORPHA:251393 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
OMIM:261560 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Dental malocclusion |
OMIM:616108 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Mandibular prognathia, Enamel hypoplasia, High palate, Malar flattening |
OMIM:600991 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Increased connective tissue, Enamel hypoplasia, Scarring alopecia of scalp |
OMIM:226670 |
Trichodental Dysplasia |
|
Hypodontia, Odontodysplasia, Conical tooth |
OMIM:601453 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Discolored lateral incisors, Oligodontia, Widely-spaced incisors, Conical mandibular incisor, Joi... |
OMIM:601668 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, U-Shape... |
OMIM:234250 |
Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta |
OMIM:615905 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita |
OMIM:217150 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
|
Carious teeth, Hypodontia, Oral mucosal blisters, Camptodactyly of finger |
OMIM:226650 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
Dental Anomalies And Short Stature |
|
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... |
OMIM:601216 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
Lichtenstein Syndrome |
|
Carious teeth, Enamel hypoplasia, Downturned corners of mouth |
OMIM:246550 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Usher Syndrome Type 2 |
|
Carious teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microdontia |
ORPHA:231178 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... |
OMIM:228560 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, High palate, Long philtrum, Irregularly spaced teeth, Enamel hypoplasia |
ORPHA:99329 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Enamel hypoplasia |
OMIM:251190 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... |
OMIM:618729 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Widely spaced teeth, Enamel hypoplasia, Conical tooth |
OMIM:613573 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... |
OMIM:273050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Cranioectodermal Dysplasia |
|
Hypodontia, Microdontia, Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermil... |
ORPHA:1515 |
Ramon Syndrome |
|
Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:3019 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... |
ORPHA:2228 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... |
ORPHA:69087 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... |
ORPHA:166108 |
Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Ohdo Syndrome |
|
Widely spaced teeth, Micrognathia, Smooth philtrum, Long philtrum, Thin vermilion border, Narrow ... |
OMIM:249620 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp |
OMIM:612843 |
Mulibrey Nanism |
|
Hypodontia, Hypoplastic frontal sinuses, Microglossia, Absent frontal sinuses, Enamel hypoplasia,... |
OMIM:253250 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300602 |
Pyle Disease |
|
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... |
OMIM:265900 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Cleft palate, High palate, Hip contracture, Pierre-Robin sequence, A... |
OMIM:618363 |
Mental Retardation, Autosomal Dominant 21 |
|
Cleft palate, Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia |
OMIM:615502 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... |
ORPHA:2325 |
Enamel-Renal Syndrome |
|
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... |
ORPHA:1031 |
Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Recurrent m... |
OMIM:225410 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Abnormality of the philt... |
ORPHA:2919 |
Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Enamel hypoplasia |
OMIM:610965 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis |
OMIM:150400 |
Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300431 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Corneodermatoosseous Syndrome |
|
Abnormality of the dentition, Hypomature dental enamel |
OMIM:122440 |
Eem Syndrome |
|
Carious teeth, Widely spaced teeth, Microdontia, Selective tooth agenesis, Abnormality of dental ... |
ORPHA:1897 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... |
OMIM:265800 |
48,Xxyy Syndrome |
|
Carious teeth, Thick lower lip vermilion, Cleft palate, Open bite, Broad jaw, Abnormal dental ena... |
ORPHA:10 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Oral mucosal blisters |
ORPHA:79411 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr... |
OMIM:614669 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microdontia, Oligodontia, Malar flattening, Scarring alopecia of scalp, Conical tooth, Enamel hyp... |
OMIM:618727 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... |
OMIM:613684 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cleft palate, Diastema, Microdontia, Talon cusp, Deep philtrum |
OMIM:605282 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp |
ORPHA:59303 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth |
OMIM:616353 |
Oculocerebrodental Syndrome |
|
Microdontia, Oligodontia, Enamel hypoplasia, Retrognathia, Abnormality of the dentition |
ORPHA:557003 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth |
ORPHA:1811 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion |
OMIM:141300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia |
OMIM:243150 |
Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Scarring, Mandibular prognathia, En... |
ORPHA:90322 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Cleft palate, High palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... |
OMIM:170390 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... |
OMIM:257850 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Hypodontia, Dens in dente, Mandibular prognathia, Bifid uvula, Enamel hypoplasia, Macrodontia |
OMIM:263540 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Shovel-shaped maxillary central incisors, Dental crowding, Open mouth |
OMIM:600906 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita |
OMIM:226730 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Amelogenesis imperfecta |
OMIM:612783 |
Oslam Syndrome |
|
Carious teeth, Osteosarcoma |
ORPHA:2760 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Dentinogenesis imperfecta |
OMIM:604922 |
Osteogenesis Imperfecta, Type V |
|
Abnormality of the dentition, Dentinogenesis imperfecta |
OMIM:610967 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Atrophic scars, Enamel hypoplasia, Narrow mouth, Squamous cell carcinoma, Flexi... |
OMIM:226600 |
Catifa Syndrome |
|
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia |
ORPHA:3214 |
Coffin-Siris Syndrome 10 |
|
Persistence of primary teeth, Wide mouth |
OMIM:618506 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Aredyld Syndrome |
|
Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of t... |
ORPHA:1133 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth |
ORPHA:99811 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental morphology, Abnormality of dental color, Basal cell carcinoma, Hemangioma |
OMIM:163200 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Drooling, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Hypodontia, Micrognathia, Microdontia, Oligodontia, Talon cusp, Tooth malposition, Abnormality of... |
ORPHA:363417 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... |
OMIM:157980 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Hypodontia, Reduced subcutaneous adipose tissue, Flexion contracture |
OMIM:612079 |
Osteogenesis Imperfecta, Type Xii |
|
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth |
OMIM:613849 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Usher Syndrome |
|
Carious teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microdontia |
ORPHA:886 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis |
OMIM:612782 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Widely spaced teeth, Microdontia, Wide mouth, Short philtrum, Drooling, Enamel hypoplasia, Exagge... |
OMIM:619293 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Pa... |
OMIM:175100 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bilateral cleft lip and palate, High palate, Malar flattening, Enamel hypoplasia, Ankyloglossia, ... |
OMIM:618874 |
Scarf Syndrome |
|
Hypocalcification of dental enamel, Umbilical hernia, Long philtrum, Hepatocellular adenoma, Enam... |
ORPHA:3134 |
Oculotrichodysplasia |
|
Carious teeth, Widely spaced primary teeth, Microdontia of primary teeth, Agenesis of permanent t... |
OMIM:257960 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Acrootoocular Syndrome |
|
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Dental maloccl... |
ORPHA:2980 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodontia, Enamel hy... |
OMIM:619184 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion |
ORPHA:1858 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Shagreen patch, Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Taurodontia, Abnormal dental enamel morphology, Camptodactyly of fi... |
ORPHA:3220 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion |
ORPHA:181 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... |
ORPHA:2563 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... |
ORPHA:50814 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Wide mouth, Abnormal dental enamel morphology, Hernia, Abnormality of the dentitio... |
ORPHA:582 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Delayed eruption of permanent teeth, Gingival overgrowth, Amel... |
OMIM:204690 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, High palate, Hypodontia, Delayed eruption of permanent teeth, Obtuse... |
ORPHA:763 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, High palate, Oligodontia, Persistence of primary teeth... |
ORPHA:37553 |
Seckel Syndrome 1 |
|
Micrognathia, High palate, Cleft palate, Selective tooth agenesis, Enamel hypoplasia, Dental malo... |
OMIM:210600 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Malar flattening, Abnormal dental enamel morphology |
ORPHA:2180 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Wide mouth, Mandibular prognathia, Grayish enamel, Inguinal h... |
OMIM:253000 |
Bone Marrow Failure Syndrome 3 |
|
Hypodontia, Micrognathia, Microdontia, Hernia, Amelogenesis imperfecta, Acute myeloid leukemia, E... |
OMIM:617052 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Widely spaced teeth, Wide mouth, Mandibular prognathia, Grayish enamel, Inguinal h... |
OMIM:253010 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Micrognathia, Cleft palate, Talon cusp, Congenital diaphragmatic hernia, Dow... |
ORPHA:2409 |
Specific Granule Deficiency 2 |
|
Tooth malposition, Myelodysplasia, Amelogenesis imperfecta, Conical tooth |
OMIM:617475 |
Gardner Syndrome |
|
Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, P... |
ORPHA:79665 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of primary teeth, Chondrocalcinosis, Premature loss of permanent teeth |
OMIM:146300 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Glossoptosis, Anter... |
OMIM:602483 |
Hall-Riggs Syndrome |
|
Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturned corners of m... |
ORPHA:2107 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... |
ORPHA:952 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... |
OMIM:216550 |
Kohlschutter-Tonz Syndrome-Like |
|
Widely spaced teeth, Carious teeth, Smooth philtrum, Drooling, Amelogenesis imperfecta, Delayed e... |
OMIM:619229 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Torus palatinus, Dental malocclusion |
OMIM:144750 |
Trisomy 4P |
|
Carious teeth, Abnormal palate morphology, Smooth philtrum, Camptodactyly of finger, Abnormality ... |
ORPHA:1738 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... |
OMIM:263200 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Raine Syndrome |
|
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Malar fl... |
OMIM:259775 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1782 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal cementum morphology, Adeno... |
ORPHA:733 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia |
ORPHA:2432 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Mandibular prognathia, Malar ... |
ORPHA:364028 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Camptodactyly ... |
ORPHA:2863 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Papillary thyroid carcinoma, Multiple gastric polyps,... |
ORPHA:247806 |
Orofacial Cleft 15 |
|
Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip, Palate fistula |
OMIM:616788 |
Tuberous Sclerosis 1 |
|
Subungual fibromas, Shagreen patch, Cardiac rhabdomyoma, Astrocytoma, Ependymoma, Gingival fibrom... |
OMIM:191100 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Selective too... |
OMIM:164200 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... |
ORPHA:2751 |
Kilquist Syndrome |
|
Xerostomia, Hypoplasia of teeth, Wide mouth, Mandibular prognathia |
OMIM:619080 |
Temtamy Syndrome |
|
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum |
OMIM:218340 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... |
ORPHA:1798 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Hypoplasia of teeth, Cleft palate, Microdontia |
ORPHA:2728 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Micrognathia, High palate, Loss of subcutaneous adipose tis... |
OMIM:608612 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Abnormal palate morphology, Malar flattening, Retrognathia |
ORPHA:1390 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Tented upper lip vermilion, Abnormality of primary teeth, Thin upper lip vermilion, ... |
ORPHA:438216 |
Osteogenesis Imperfecta, Type Xi |
|
Abnormality of the dentition, Dentinogenesis imperfecta |
OMIM:610968 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Supernumerary tooth, Microdontia, Oligodontia |
OMIM:191482 |
Smith-Magenis Syndrome |
|
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Tented upper ... |
ORPHA:819 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Carious teeth, Neoplasm of the skin, Hypodontia, Neoplasm of the lung, Abnormality of the gingiva... |
ORPHA:659 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Narrow palate, Thick lower lip vermilion, Narrow mouth |
ORPHA:457365 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Orofaciodigital Syndrome I |
|
Carious teeth, High palate, Cleft palate, Alveolar ridge overgrowth, Hypothalamic hamartoma, Tong... |
OMIM:311200 |
Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth |
ORPHA:181393 |
48,Xxxy Syndrome |
|
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... |
ORPHA:96263 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Microphthalmia |
ORPHA:195 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Mandibuloacral Dysplasia |
|
Micrognathia, High palate, Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic ad... |
ORPHA:2457 |
Short Syndrome |
|
Microdontia, Lipodystrophy, Malar flattening, Abnormal dental enamel morphology, Inguinal hernia,... |
ORPHA:3163 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Hypodontia, Cleft palate, Mandibular prognathia, Abnormal dental enamel morphology, Vaginal herni... |
ORPHA:2916 |
Isolated Cleft Lip |
|
Hypodontia, Supernumerary maxillary incisor, Velopharyngeal insufficiency, Non-midline cleft lip,... |
ORPHA:199302 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Thick lower lip vermilion, Micrognathia, Clef... |
OMIM:154780 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Widely spaced primary teeth, Hypoplasia of the pri... |
ORPHA:90321 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:615415 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypocalcification of dental enamel, Amelogenesis imperfecta, Neoplasm |
ORPHA:169090 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Omphalocele, Delayed eruption of teeth |
OMIM:614450 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Codas Syndrome |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1458 |
Faciothoracogenital Syndrome |
|
Microphthalmia, Glandular hypospadias |
OMIM:227320 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Impaired mastication |
ORPHA:466722 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Hypodontia, Micrognathia, Cleft upper lip, Hypopla... |
ORPHA:3253 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
49,Xxxxy Syndrome |
|
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... |
ORPHA:96264 |
Cleidocranial Dysplasia |
|
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... |
OMIM:119600 |
Schimke Immuno-Osseous Dysplasia |
|
Hypodontia, Abnormality of primary molar morphology, Microdontia, Lymphoproliferative disorder, N... |
ORPHA:1830 |
Scarf Syndrome |
|
Enamel hypoplasia, Inguinal hernia, Umbilical hernia, Long philtrum |
OMIM:312830 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Mandibular prognathia, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Den... |
OMIM:603463 |
Porphyria, Congenital Erythropoietic |
|
Corneal scarring, Joint contracture of the hand, Abnormality of the mouth, Erythrodontia, Atypica... |
OMIM:263700 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Shagreen patch, Micrognathia, Abnormal palate morphology, Open bite, Lipoatrophy |
ORPHA:2617 |
Cole-Carpenter Syndrome 2 |
|
High palate, Microretrognathia, Dentinogenesis imperfecta |
OMIM:616294 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Gingivitis, Abnormal dental enamel morphology |
ORPHA:3194 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Enamel hypoplasia, Abnormality of the dentition, Wide mouth |
OMIM:615802 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short philtrum, Oligodontia, Long philtrum, Dorsocervical fat pad, Downturned corne... |
ORPHA:391408 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Cole-Carpenter Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2050 |
Pallister W Syndrome |
|
Agenesis of central incisor, Joint contracture of the hand, Broad uvula, Camptodactyly, Agenesis ... |
OMIM:311450 |
Cerebellar-Facial-Dental Syndrome |
|
Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... |
ORPHA:444072 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Micrognathia, High palate, Loss of subcutaneous adipose tissue i... |
OMIM:248370 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding |
OMIM:618825 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Smooth philtrum, Oligodontia, Malar flattening, Joint contracture of the hand, D... |
OMIM:235510 |
Pachyonychia Congenita 2 |
|
Natal tooth, Steatocystoma multiplex |
OMIM:167210 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Retrognathia |
OMIM:234050 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Malar flattening, Joint contracture of the hand, Dental malocclusion, Camptodactyly |
OMIM:608257 |
Laron Syndrome |
|
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth |
ORPHA:633 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Narrow palate, Dental ... |
OMIM:264475 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Wide mouth, Short philtrum, Mandibular prognathia, Gingival overgrowth, ... |
ORPHA:137834 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypodontia, Everted upper lip vermilion, Microdontia, Conical tooth, Abnormal oral mucosa morphol... |
OMIM:305100 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Joint contracture ... |
OMIM:601701 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Lymphoma, Recurrent aphthous stomatitis, Stomatitis |
OMIM:212750 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Micrognathia, Cleft palate, High, narrow palate, Open bite, Mandibular ... |
ORPHA:1452 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Mandibulofacial Dysostosis With Alopecia |
|
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... |
OMIM:616367 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Hypodontia, Oligodontia |
OMIM:601345 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth |
OMIM:619356 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Conical incisor, Micrognathia, Long philtrum, Maxillary lateral incisor microdontia, Thin vermili... |
ORPHA:73223 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum |
OMIM:617337 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Amelogenesis imperfecta |
OMIM:610319 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth |
ORPHA:627 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Cleft palate, Facial capillary hemangioma, Pierre-Robin sequence, Ol... |
ORPHA:364577 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum |
OMIM:184260 |
Biemond Syndrome Type 2 |
|
Hypospadias, Microphthalmia |
ORPHA:141333 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Premature loss of teeth, Periodontitis, Dentinogenesis imper... |
OMIM:619269 |
Oculodentodigital Dysplasia |
|
Carious teeth, Micrognathia, Cleft palate, Mandibular prognathia, Median cleft lip, Abnormal dent... |
ORPHA:2710 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnorma... |
ORPHA:2547 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Neoplasm of the skin, Myelodysplasia, Microdontia, Leukemia, Supernumerary tooth, ... |
ORPHA:2909 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
Ellis Van Creveld Syndrome |
|
Conical incisor, Hypodontia, Microdontia, Acute leukemia, Thin vermilion border, Delayed eruption... |
ORPHA:289 |
Eec Syndrome |
|
Carious teeth, Cleft palate, Microdontia, Xerostomia, Abnormal dental enamel morphology, Lymphoma... |
ORPHA:1896 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Carious teeth, Keloids, Atrophic scars, Atypical scarring of skin, Oral mucosal blisters |
ORPHA:79410 |
Cherubism |
|
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Multiple impacted teeth, Den... |
OMIM:118400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Microphthalmia |
OMIM:274270 |
Mohr Syndrome |
|
Micrognathia, Cleft palate, High palate, Agenesis of central incisor, Tongue nodules, Accessory o... |
OMIM:252100 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Atrophic scars, Squamous cell carcinoma of the skin, Enamel hypoplasia, Smooth tongue, ... |
ORPHA:79396 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Microdontia, Retrognathia |
OMIM:210720 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short philtrum, Long philtrum, Mandibular prognathia, Malar flattening, Abnormal de... |
ORPHA:439822 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent teeth, Facial hyperos... |
OMIM:218400 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Microdontia, Mandibular prognathia, Malar flattening, Absent paranasa... |
OMIM:269300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Micrognathia, Cleft palate, Hypodontia, Abnormal dental enamel morphology, D... |
ORPHA:1071 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, High palate, Wide mouth, Mandibular prognathia, Thin upper lip vermilion, Dental m... |
OMIM:249630 |
Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... |
ORPHA:884 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Microphthalmia |
OMIM:615665 |
Sanjad-Sakati Syndrome |
|
Micrognathia, Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormalit... |
ORPHA:2323 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Congenital diaphragmatic he... |
ORPHA:2063 |
Seckel Syndrome |
|
Tooth agenesis, Micrognathia, Abnormal dental enamel morphology |
ORPHA:808 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Thin vermilion border, Deep... |
ORPHA:2701 |
Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue |
OMIM:258850 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... |
OMIM:608836 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Tooth agenesis, Inguinal hernia, Multiple unerupted teeth |
ORPHA:2645 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Mandibular prognathia, Furrowed tongue, Abnormality of the mouth |
ORPHA:140936 |
W Syndrome |
|
Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxillary central incisor, Submucous cleft... |
ORPHA:2804 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Microphthalmia |
OMIM:610756 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Malar flattening, Inguinal hernia, Dentinogenesis imperfecta |
OMIM:613848 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology, Abnormality of the mouth |
ORPHA:1334 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Short philtrum, Umbilical hernia |
OMIM:617237 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Dental malocclusion |
OMIM:613680 |
Costello Syndrome |
|
Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Narrow palate, Papill... |
ORPHA:3071 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Neoplasm of the skin, Adenoma sebaceum, Supernumerary tooth, Delayed eruption of teeth, Abnormali... |
ORPHA:3353 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... |
OMIM:617303 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Mandibular prognathia, Hypoplasia of the zygomatic bone, Downturned corners of mou... |
ORPHA:1110 |
Congenital Disorder Of Glycosylation, Type Iim |
|
High palate, Short philtrum, Mandibular prognathia, Enamel hypoplasia, Exaggerated cupid's bow, O... |
OMIM:300896 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... |
OMIM:607812 |
Distal Trisomy 18Q |
|
Carious teeth, Micrognathia, High palate, Abnormality of dental morphology, Camptodactyly of finger |
ORPHA:1716 |
Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth |
OMIM:614188 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney |
OMIM:608022 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Carious teeth, Micrognathia, High palate, Long philtrum, Narrow mouth, Retrognathia, Camptodactyl... |
OMIM:272430 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Lipoatrophy, Hypoplasia of the ma... |
OMIM:601812 |
Trichothiodystrophy |
|
Carious teeth, High, narrow palate, Absence of subcutaneous fat, Enamel hypoplasia, Squamous cell... |
ORPHA:33364 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cleft palate, Microdontia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, R... |
ORPHA:1812 |
Malan Syndrome |
|
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth |
OMIM:614753 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... |
OMIM:614701 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Persistence of primary teeth, Mandibular osteomyelitis, Mandibular prognathia |
OMIM:259710 |
Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Micrognathia, Cleft palate, Dental crowding, Hamartoma of tongue, Mic... |
ORPHA:137888 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... |
OMIM:120330 |
Dyskeratosis Congenita |
|
Carious teeth, Hypodontia, Neoplasm of the pancreas, Neoplasm, Lymphoma, Periodontitis, Abnormali... |
ORPHA:1775 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unilateral microph... |
ORPHA:137902 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria |
OMIM:619053 |
Codas Syndrome |
|
Omphalocele, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:600373 |
Cranioectodermal Dysplasia 3 |
|
Hypoplasia of teeth, Micrognathia, Widely spaced teeth, Everted lower lip vermilion |
OMIM:614099 |
Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney, Microphthalmia |
OMIM:606744 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Hypodontia, Short philtrum, Malar flattening, Abnormal dental enamel morphology |
ORPHA:3258 |
Treacher-Collins Syndrome |
|
Micrognathia, Cleft palate, High palate, Wide mouth, Open bite, Cleft upper lip, Branchial fistul... |
ORPHA:861 |
Rothmund-Thomson Syndrome, Type 2 |
|
Micrognathia, High palate, Microdontia, Mandibular prognathia, Supernumerary tooth, Basal cell ca... |
OMIM:268400 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Micrognathia, Cleft palate, Wide mouth, Malar flattening, Abnormal de... |
ORPHA:85199 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Oral mucosal blisters |
ORPHA:79409 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Hyperechogenic kidneys, Microphthalmia |
OMIM:613885 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... |
ORPHA:1327 |
Char Syndrome |
|
Short philtrum, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Persistenc... |
ORPHA:46627 |
Branchioskeletogenital Syndrome |
|
Carious teeth, Premature loss of teeth, Short philtrum, Mandibular prognathia, Submucous cleft ha... |
ORPHA:1299 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Bresek Syndrome |
|
Renal hypoplasia, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia, Hypoplasia of the blad... |
ORPHA:85284 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, High palate, Advanced eruption of teeth |
OMIM:262190 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Retrognathia, Dental malocclusion |
OMIM:601552 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Gorlin Syndrome |
|
Carious teeth, Neoplasm, Mandibular prognathia |
ORPHA:377 |
Chand Syndrome |
|
Cleft palate, Bifid tongue, Abnormal oral frenulum morphology, Commissural lip pit, Agenesis of p... |
ORPHA:1401 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency... |
OMIM:208540 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Neoplasm of the skin, Abnormal dental enamel morphology, Del... |
ORPHA:534 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Neoplasm of the skin, Cleft palate, High palate, Microdontia, Myelodysplasia, Leuk... |
ORPHA:221016 |
3M Syndrome |
|
Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption of teeth, Long p... |
ORPHA:2616 |
Cranioectodermal Dysplasia 1 |
|
Widely spaced teeth, High, narrow palate, Hypodontia, High palate, Microdontia, Enamel hypoplasia... |
OMIM:218330 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Micrognathia, Glossoptosis |
ORPHA:93346 |
Monosomy 18P |
|
Carious teeth, Micrognathia, Cleft palate, Hypodontia, Short philtrum, Tooth malposition, Downtur... |
ORPHA:1598 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Neoplasm of the skin, Myelodysplasia, Microdontia, Leukemia, Basal cell carcinoma,... |
ORPHA:221008 |
Osteogenesis Imperfecta |
|
Carious teeth, Micrognathia, Abnormality of dental color, Visceral angiomatosis, Abnormal dental ... |
ORPHA:666 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|