| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Tooth Agenesis, Selective, 9 |
|
Selective tooth agenesis, Microdontia, Taurodontia |
OMIM:617275 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia |
OMIM:190320 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
| Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Tooth Agenesis, Selective, 3 |
|
Agenesis of permanent molar, Abnormal hair morphology, Oligodontia, Microdontia, Abnormal fingern... |
OMIM:604625 |
| Dentinogenesis Imperfecta 1 |
|
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... |
ORPHA:49042 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Witkop Syndrome |
|
Microdontia of primary teeth, Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toe... |
OMIM:189500 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Trichodental Dysplasia |
|
Hypodontia, Odontodysplasia, Conical tooth |
OMIM:601453 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... |
OMIM:614931 |
| Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Hypotrichosis 3 |
|
Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca... |
OMIM:613981 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:2027 |
| Hypotrichosis 5 |
|
Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Abnormality of the d... |
OMIM:612841 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Abnormal dental morphology, Sparse eyelashes, Spars... |
OMIM:615896 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Polydactyly, Postaxial, Type A6 |
|
Abnormal dental morphology, Abnormality of the nail, Abnormal sweat gland morphology |
OMIM:615226 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type If |
|
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone |
ORPHA:3145 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Hyperconvex nail |
OMIM:311895 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... |
ORPHA:2972 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Abnormality of t... |
OMIM:602032 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Abnorm... |
OMIM:614929 |
| Tricho-Dento-Osseous Syndrome |
|
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... |
ORPHA:3352 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2222 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79406 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:2779 |
| Hypotrichosis 12 |
|
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... |
OMIM:615885 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Hypotrichosis 7 |
|
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Abnorm... |
OMIM:604379 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth |
OMIM:125350 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Supernumerary tooth, Oligodontia, Abnormality of the dentition |
ORPHA:1264 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Cleft Palate, Isolated |
|
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate |
OMIM:119540 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79405 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... |
ORPHA:199306 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Anosmia, Microdontia, Cryptorchidism, Diastema |
OMIM:619718 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Slow-growing scalp hair, Abnormality of the nail, Oligodontia, Sparse scalp hair, Sparse eyelashe... |
OMIM:601345 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Supernumerary tooth, Nail dystrophy, Decreased number of sweat glands, Yellow-brown discoloration... |
ORPHA:69087 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, Decreased number of sweat glands, Small nail, Microdontia, Bifid uvula, Sparse ha... |
OMIM:129400 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Trichorrhexis nodosa, Nail dystrophy, Short philtrum, Scarring alopecia of scalp, Sparse lateral ... |
OMIM:617337 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... |
ORPHA:1193 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| 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, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... |
OMIM:607823 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Microdontia, Bifid uvula, Hyperconvex nail, Tongue nodules, Bifid tongue |
OMIM:258850 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Delayed eruption of teeth, Patchy alopecia, Poliosis, Dental malocclusion,... |
OMIM:141300 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... |
ORPHA:2025 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:2026 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... |
ORPHA:2228 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... |
ORPHA:1515 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening |
ORPHA:139474 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair |
OMIM:616390 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
| Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Carious teeth, Thick vermilion border |
ORPHA:363523 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Auriculocondylar Syndrome 4 |
|
Narrow mouth, Micrognathia, Cleft palate, Glossoptosis |
OMIM:620457 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Carious teeth |
OMIM:226700 |
| Nance-Horan Syndrome |
|
Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition |
ORPHA:627 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta |
OMIM:613849 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Nance-Horan Syndrome |
|
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar |
OMIM:302350 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Liang-Wang Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... |
OMIM:618729 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Microglossia |
ORPHA:141152 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... |
OMIM:272440 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Brittle hair, Highly arche... |
OMIM:617412 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg... |
ORPHA:2919 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth |
OMIM:203550 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... |
OMIM:614669 |
| Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Oligodontia, Sparse eyelashes, Sparse lateral eyebrow, ... |
ORPHA:1787 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia |
OMIM:610706 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Incisor macrodontia, Thin upper lip vermilion, Widely-spaced maxillary centr... |
OMIM:619719 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... |
OMIM:613684 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... |
OMIM:300602 |
| Zimmermann-Laband Syndrome |
|
Supernumerary tooth, Hypoplastic fingernail, Gingival fibromatosis, Anterior open-bite malocclusi... |
ORPHA:3473 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Selective tooth agenesis, Microdontia, Sparse hair |
OMIM:617073 |
| Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... |
OMIM:265900 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum |
OMIM:615502 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of nail color, High anterior hairline, Abnormal dental enamel morphology, Abnormal ha... |
ORPHA:3220 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Short philtrum, Incisor macrodontia, Micrognathia, Thick vermilion border, O... |
ORPHA:166108 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... |
ORPHA:2325 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Supernumerary tooth, Leukonychia, Long upper lip, High palate, Abnormality of the dentition, Spar... |
ORPHA:77258 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta |
OMIM:613982 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair morphology, Abnormal dental morphology, Hypoplasia of teeth, Premature loss of prim... |
ORPHA:248 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Catel-Manzke Syndrome |
|
Highly arched eyebrow, Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening |
ORPHA:1388 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| 48,Xxyy Syndrome |
|
Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morpholog... |
ORPHA:10 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Cole-Carpenter Syndrome 1 |
|
Micrognathia, Dentinogenesis imperfecta, Microdontia |
OMIM:112240 |
| Lelis Syndrome |
|
Nail dystrophy, Yellow nails, Mandibular prognathia, Furrowed tongue, Sparse lateral eyebrow, Car... |
ORPHA:140936 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Long philtrum |
ORPHA:166100 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Supernumerary tooth, Adenoma sebaceum, Sparse or absent eyelashes, Delayed eruption of teeth, Bri... |
ORPHA:3353 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Hartnup Disorder |
|
Glossitis, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Aplasia/Hypoplastia of the... |
OMIM:305100 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Supernumerary tooth, Dental crowding, Sparse lateral eyebrow, Smooth philtrum, Sparse hair, Long ... |
OMIM:190351 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... |
OMIM:605274 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia |
ORPHA:3214 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth |
OMIM:620114 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... |
OMIM:249700 |
| Hall-Riggs Syndrome |
|
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... |
OMIM:234250 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta |
OMIM:229200 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow... |
ORPHA:240 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... |
ORPHA:1972 |
| Pili Torti |
|
Brittle hair, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of hair tex... |
ORPHA:2889 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Eem Syndrome |
|
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... |
ORPHA:1897 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Nail dystrophy, Carious teeth, Anonychia, Abnormality of the subungual region, Oral mucosal blisters |
ORPHA:79411 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption |
OMIM:606893 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, High palate, Enamel hypoplasia, Motor stereotypy, Attention deficit hyperact... |
OMIM:618205 |
| Orofacial Cleft 15 |
|
High anterior hairline, Palate fistula, Bilateral cleft palate, Distichiasis, Sparse eyelashes, S... |
OMIM:616788 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Tooth malposition, Increased overbite, Cleft palate, Long philtrum, Cl... |
OMIM:618761 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Carious teeth |
OMIM:226670 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum |
OMIM:605282 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum... |
OMIM:157980 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Abnormal palate morphology, Supernumerary tooth, Abnormality of the dentition, Sparse scalp hair,... |
ORPHA:502 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... |
ORPHA:189 |
| Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair, Dental malo... |
OMIM:619692 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Auriculocondylar Syndrome 1 |
|
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... |
OMIM:602483 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
| Cleidocranial Dysplasia |
|
Supernumerary tooth, High, narrow palate, Dystrophic fingernails, Delayed eruption of teeth, Abno... |
ORPHA:1452 |
| Localized Junctional Epidermolysis Bullosa |
|
Abnormality of dental color, Enamel hypoplasia, Dental enamel pits |
ORPHA:251393 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Dysphagia, Tongue atrophy |
ORPHA:496689 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... |
ORPHA:199302 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum |
ORPHA:99329 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Mandibular prognathia, High palate, Tooth agenesis, Carious teeth, Ename... |
OMIM:618363 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Carious teeth, Abnormality of the dentition |
ORPHA:3270 |
| Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth |
ORPHA:181 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Onychogryposis, Smooth philtrum, Taurodontia |
OMIM:614378 |
| Odontochondrodysplasia 1 |
|
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth |
OMIM:184260 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Taurodontia |
OMIM:211900 |
| Acrootoocular Syndrome |
|
Supernumerary tooth, Grayish enamel, High, narrow palate, Decreased response to growth hormone st... |
ORPHA:2980 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia |
OMIM:616294 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Dysphagia, Tongue atrophy |
OMIM:613435 |
| Ramon Syndrome |
|
Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:3019 |
| White Forelock With Malformations |
|
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis |
OMIM:277740 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip vermilion, Low... |
ORPHA:1387 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thin vermilion border, Abnormal temper tantrums, Conical incisor, Abnormality of hair texture, Im... |
ORPHA:73223 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... |
OMIM:600785 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Sparse eye... |
OMIM:616367 |
| Developmental And Epileptic Encephalopathy 66 |
|
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod... |
OMIM:618067 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth |
OMIM:615905 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Delayed eruption... |
OMIM:619269 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of the dentition... |
ORPHA:363417 |
| Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality... |
ORPHA:952 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Nail dystrophy, Small nail, Conical tooth, Selective tooth agenesis, Absent toenail, Absent fifth... |
OMIM:124480 |
| Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Retrognathia, Abnormal pituitary gland morphology, Volvulus, Cleft palate, W... |
ORPHA:314621 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Small nail, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... |
ORPHA:364577 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Abnormal mandible morphology, Low anterior hairline, Abnormali... |
ORPHA:3201 |
| Orofaciodigital Syndrome Ii |
|
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... |
OMIM:252100 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Whistling Face Syndrome, Recessive Form |
|
Trismus, Whistling appearance, High palate, Narrow mouth, Micrognathia, Malar flattening, Microgl... |
OMIM:277720 |
| Seckel Syndrome 5 |
|
Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia... |
OMIM:613823 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia |
ORPHA:90024 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Smo... |
ORPHA:2563 |
| Smith-Magenis Syndrome |
|
Short philtrum, Mandibular prognathia, Synophrys, Cleft upper lip, Micrognathia, Cleft palate, Te... |
ORPHA:819 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Carious teeth |
OMIM:612843 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Orofaciodigital Syndrome Type 2 |
|
Thick hair, Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central i... |
ORPHA:2751 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
| Chand Syndrome |
|
Nail dysplasia, Agenesis of maxillary incisor, Curly hair, Abnormal oral frenulum morphology, Com... |
ORPHA:1401 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:618292 |
| Eiken Syndrome |
|
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... |
ORPHA:79106 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair |
OMIM:300291 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Cerebellofaciodental Syndrome |
|
Aggressive behavior, Cryptorchidism, Sparse eyebrow, Dental malocclusion, Fine hair, Macrodontia ... |
OMIM:616202 |
| Orofaciodigital Syndrome I |
|
Dry hair, Supernumerary tooth, Alopecia, High palate, Ankyloglossia, Agenesis of permanent teeth,... |
OMIM:311200 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
| Hypoglossia With Situs Inversus |
|
Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia |
OMIM:612776 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Compulsive behaviors, Impulsivity, Dysphagia, Violent behavior, Tongue atrophy |
ORPHA:216873 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening |
ORPHA:86818 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion |
ORPHA:1858 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| 48,Xxxy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, D... |
ORPHA:96263 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, High, narrow palate, Abnormality of hair texture, Glossoptosis, Abnormality ... |
ORPHA:2108 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Micrognathia, Malar flattening, Hypodontia, Premature loss of permanent teeth |
OMIM:212780 |
| Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Thin vermilion border, Dentinogenesis imperfecta |
OMIM:614856 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... |
OMIM:612447 |
| 49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, D... |
ORPHA:96264 |
| Deafness-Craniofacial Syndrome |
|
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... |
ORPHA:3241 |
| Burning Mouth Syndrome |
|
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm... |
ORPHA:353253 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Widely spaced teeth, Malar flattening |
OMIM:616108 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Wide mouth, Thick vermilion border |
OMIM:618506 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Kleine-Levin Syndrome |
|
Polydipsia, Agitation, Polyphagia, Parosmia, Parageusia, Repetitive compulsive behavior, Sweet cr... |
ORPHA:33543 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... |
OMIM:601216 |
| Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Absent nipple, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilate... |
OMIM:618021 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Supernumerary tooth, Nail dystrophy, Annular pancreas, Delayed eruptio... |
OMIM:268400 |
| Odontoonychodermal Dysplasia |
|
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Smooth tongue, Conical incisor, A... |
OMIM:257980 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth... |
ORPHA:2863 |
| Plummer-Vinson Syndrome |
|
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Geophagia, Esophageal web, Dysp... |
ORPHA:54028 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft palate, Carious teeth, Conical tooth |
ORPHA:1997 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition |
ORPHA:3238 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Difficulty in tongue movements, Dental crowding, Mand... |
ORPHA:137888 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Mulibrey Nanism |
|
Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo... |
OMIM:253250 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... |
OMIM:257850 |
| W Syndrome |
|
Upper lip pit, Submucous cleft hard palate, Broad uvula, Abnormality of the scalp hair, Agenesis ... |
ORPHA:2804 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Enamel hypoplasia, Carious teeth, Widely spaced teeth |
OMIM:620193 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... |
OMIM:620107 |
| Oculodentodigital Dysplasia |
|
Slow-growing hair, Broad alveolar ridges, Premature loss of teeth, Selective tooth agenesis, High... |
OMIM:164200 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
| Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cleft palate, T... |
OMIM:619736 |
| Cronkhite-Canada Syndrome |
|
Anorexia, Hypoplastic toenails, Dystrophic fingernails, Intestinal polyposis, Stomach cancer, Dys... |
ORPHA:2930 |
| Lipoid Proteinosis |
|
Alopecia of scalp, Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal o... |
ORPHA:530 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... |
ORPHA:438216 |
| Arthrogryposis, Distal, Type 12 |
|
Dental crowding, Agenesis of maxillary incisor, High palate, Cryptorchidism, Hydrocele testis |
OMIM:620545 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... |
OMIM:150400 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth |
OMIM:146300 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Dental crowding, Exaggerated median tongue furrow, Motor stereotypy, Attention def... |
ORPHA:313892 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Angelman Syndrome Due To A Point Mutation |
|
Widely spaced teeth, Hypopigmentation of hair, Tongue thrusting, Mandibular prognathia, Recurrent... |
ORPHA:411511 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pursed lips |
OMIM:241310 |
| Hallermann-Streiff Syndrome |
|
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Hyperactivity, Se... |
OMIM:234100 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Micrognathia, Narrow mouth, Microglossia |
OMIM:227270 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... |
ORPHA:364028 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... |
ORPHA:1299 |
| 9q subtelomeric deletion syndrome |
|
Synophrys, Protruding tongue |
DECIPHER:52 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Hypopigmentation of hair, Glossitis, Abnormal eyebrow morphology, Generalized h... |
ORPHA:2221 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Conical tooth, Sparse scalp hair, Sparse hair, Hypodontia, Aplasia of the sweat glands |
OMIM:612132 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypoplasia, Malar f... |
OMIM:618727 |
| Rabson-Mendenhall Syndrome |
|
Premature graying of hair, Polydipsia, Advanced eruption of teeth, Thick hair, Dental crowding, G... |
ORPHA:769 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Deep-set nails, Microgna... |
OMIM:201170 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Aplasti... |
OMIM:228900 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Tongue atrophy |
OMIM:158900 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... |
OMIM:216550 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Narrow mouth, Micrognathia, Microglossia, Aglossia |
OMIM:103300 |
| Amelogenesis Imperfecta, Type Ig |
|
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... |
OMIM:204690 |
| Lowry-Maclean Syndrome |
|
Retrognathia, High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Downturned corners of m... |
ORPHA:2409 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum |
OMIM:618825 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Retrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:620269 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Decreased number of sweat glands |
OMIM:241120 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Hypopigmentation of hair, Tongue thrusting, Mandibular prognathia, Protrudin... |
ORPHA:98795 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
| Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Micrognathia, Sparse eyebrow, Sparse hair, Long philtrum, Dental malocclusion, Fi... |
ORPHA:444072 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Periodontitis, Aplastic/hypo... |
ORPHA:1775 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Seckel Syndrome 2 |
|
Micrognathia, Microdontia, Microglossia |
OMIM:606744 |
| Eec Syndrome |
|
Orofacial cleft, Nail dystrophy, Decreased response to growth hormone stimulation test, Anterior ... |
ORPHA:1896 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Rothmund-Thomson Syndrome |
|
Nail dysplasia, Supernumerary tooth, Delayed eruption of teeth, Small nail, Abnormal dental ename... |
ORPHA:2909 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Impacted tooth, Agenesis of ... |
OMIM:211380 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E... |
OMIM:618342 |
| Braddock-Carey Syndrome 1 |
|
Everted lower lip vermilion, Enamel hypoplasia, Pierre-Robin sequence, Cleft palate, Thick vermil... |
OMIM:619980 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Cleft palate, Ankyloglossia |
OMIM:303400 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
| Oculoskeletodental Syndrome |
|
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia |
ORPHA:557003 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
| Oculodentodigital Dysplasia |
|
Brittle hair, Slow-growing hair, Broad alveolar ridges, Abnormal dental enamel morphology, Non-mi... |
ORPHA:2710 |
| Laron Syndrome |
|
Micrognathia, Delayed eruption of teeth, Microdontia, Tooth agenesis |
ORPHA:633 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed eruption of permanent teeth |
OMIM:619356 |
| Familial Adenomatous Polyposis 1 |
|
Supernumerary tooth, Carious teeth, Eruption failure, Odontoma |
OMIM:175100 |
| X-Linked Hypophosphatemia |
|
Tooth abscess, Odontodysplasia, Abnormal dentin morphology |
ORPHA:89936 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Narrow palate, Carious teeth, Thick lower lip vermilion, Narrow mouth |
ORPHA:457365 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Micrognathia, Glossoptosis |
ORPHA:93346 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Alopecia of scalp, Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Spars... |
OMIM:618874 |
| Orofaciodigital Syndrome Xv |
|
Midline notch of upper alveolar ridge, Lobulated tongue |
OMIM:617127 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth |
ORPHA:1656 |
| Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Long philtrum, Short philtrum, Exaggerated cupid's bow, Abnormality of the dentition,... |
ORPHA:1507 |
| Pycnodysostosis |
|
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... |
OMIM:265800 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Trichoepithelioma, Furrowed tongue, Sparse hair, Pili torti, Coarse hair |
OMIM:301845 |
| Osteogenesis Imperfecta, Type X |
|
Micrognathia, Dentinogenesis imperfecta, Malar flattening |
OMIM:613848 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
| Autosomal Dominant Robinow Syndrome |
|
Retrognathia, Long philtrum, Anodontia, Short philtrum, Oligodontia, Ridged fingernail, Alopecia,... |
ORPHA:3107 |
| Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Short philtrum, Downturned corners of mouth, Lobulated tongue, Motor stereotypy, Thin upper lip v... |
OMIM:613443 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft palate, Micrognathia, Bifid tongue |
ORPHA:2001 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Everted lower lip vermilion, Compulsive behaviors, Persistence of primary ... |
OMIM:610253 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Carious teeth |
OMIM:612079 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Hypodontia, Carious teeth, Microdontia, Conical tooth |
OMIM:620192 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Micrognathia, Cleft palate, Glossoptosis, Aggressive behavior |
OMIM:618356 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Iri... |
ORPHA:177910 |
| Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Anodontia, Delayed eru... |
ORPHA:90322 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn... |
ORPHA:884 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Fine hair, Alopecia |
ORPHA:1839 |
| Distal Deletion 12Q |
|
Obsessive-compulsive trait, Supernumerary tooth, High, narrow palate, Annular pancreas, Esophagea... |
ORPHA:96149 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Joubert Syndrome 18 |
|
Retrognathia, Cleft palate, Lobulated tongue |
OMIM:614815 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... |
ORPHA:3344 |
| Slc35A2-Cdg |
|
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas... |
ORPHA:356961 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Scarring alopecia of scalp, Abnormal dental enamel morphology, Oligodontia, Sparse scalp hair, Sp... |
ORPHA:59303 |
| Schimke Immuno-Osseous Dysplasia |
|
Hypodontia, Abnormal intestine morphology, Abnormal primary molar morphology, Microdontia |
ORPHA:1830 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Cherubism |
|
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... |
OMIM:118400 |
| Mandibuloacral Dysplasia |
|
Hypoplastic fingernail, Abnormal tongue morphology, Dental crowding, High palate, Hypoplasia of t... |
ORPHA:2457 |
| Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta |
OMIM:610915 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Micrognathia, Cleft palate, Malar flattening |
OMIM:101805 |
| Jalili Syndrome |
|
Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis |
OMIM:217080 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Glossoptosis, Micrognathia, Pierre-Robin sequence, Open mouth, Thin upper lip vermilion |
OMIM:613604 |
| Gardner Syndrome |
|
Supernumerary tooth, Neoplasm of the pancreas, Pilomatrixoma, Odontoma, Abnormality of the dentit... |
ORPHA:79665 |
| Cleidocranial Dysplasia 1 |
|
Narrow palate, Supernumerary tooth, High, narrow palate, Absent frontal sinuses, High palate, Hyp... |
OMIM:119600 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Delayed eruption of permanent teeth, Broad alveolar ridges, Mandibular prognathia, Facial hyperos... |
OMIM:218400 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Supernumerary tooth, Neoplasm of the pancreas, Duodenal polyposis, Pilomatrixoma, Odontoma, Esoph... |
ORPHA:247806 |
| Frank-Ter Haar Syndrome |
|
Short philtrum, Delayed eruption of teeth, Premature loss of teeth, Gingival overgrowth, Mandibul... |
ORPHA:137834 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Premature loss of teeth, Carious teeth, Sparse hair, Oral leukoplakia, Alopecia |
OMIM:616353 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth |
OMIM:619797 |
| Aredyld Syndrome |
|
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu... |
ORPHA:1133 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Chime Syndrome |
|
Supernumerary tooth, Short philtrum, Abnormality of the dentition, Microdontia, Abnormal dental m... |
ORPHA:3474 |
| Orofaciodigital Syndrome Iv |
|
Tongue nodules, High palate, Micrognathia, Cleft palate, Lobulated tongue, Accessory oral frenulu... |
OMIM:258860 |
| Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... |
OMIM:614753 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Micrognathia, Multiple unerupted teeth |
ORPHA:2645 |
| Congenital Syphilis |
|
High palate, Notched primary central incisor, Semilunar tooth, Mulberry molar, Hyperplasia of the... |
ORPHA:499009 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:231178 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormality of the dentition, Abnormality of the tongue, Carious teeth, Abnormal oral mucosa morp... |
ORPHA:659 |
| Hennekam Syndrome |
|
Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth... |
ORPHA:2136 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
| Marshall Syndrome |
|
Thick lower lip vermilion, Absent frontal sinuses, Thick upper lip vermilion, Bifid uvula, Cleft ... |
OMIM:154780 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri... |
OMIM:620076 |
| Bent Bone Dysplasia Syndrome 1 |
|
Gingival overgrowth, Micrognathia, Natal tooth, Malar flattening |
OMIM:614592 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermi... |
OMIM:619184 |
| Inhalational Anthrax |
|
Abnormal sweat gland morphology |
ORPHA:247257 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Hyperactivity, Mandibular prognathia, High palate, Furrowed tongue, Patchy alopec... |
OMIM:300534 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Widely spaced teeth, Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Mandibular progna... |
ORPHA:98794 |
| Craniometadiaphyseal Dysplasia |
|
Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Natal tooth, Mal... |
OMIM:269300 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormal palate morphology, Tooth agenesis, Multiple unerupted teeth, Micrognathia... |
ORPHA:2063 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Nail dysplasia, Trichiasis, Nail dystrophy, Absent pubic hair, Furrowed tongue, Microdontia, Abse... |
OMIM:148210 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Thin vermilion border, Gingival overgrowth, Mandibular prognathia, Hirsutism, Evert... |
OMIM:212066 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth |
ORPHA:1883 |
| Arthrogryposis, Distal, Type 5D |
|
Highly arched eyebrow, Narrow mouth, Furrowed tongue, Micrognathia, Cleft palate, Open mouth, Ton... |
OMIM:615065 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:440354 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Premature loss of teeth, Self-mutilation, Impulsivity, Tooth abscess,... |
ORPHA:642 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... |
ORPHA:166016 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Angular cheilitis, Oral leukoplakia |
OMIM:167210 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Cleft lip, Notched primary central incisor |
OMIM:620519 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
| Trisomy 8Q |
|
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab... |
ORPHA:1752 |
| Char Syndrome |
|
Short philtrum, Triangular mouth, Everted lower lip vermilion, Persistence of primary teeth, Mala... |
ORPHA:46627 |
| Orofaciodigital Syndrome Type 14 |
|
Supernumerary tooth, Aplasia of the epiglottis, Bilateral cryptorchidism, Cleft palate, Lobulated... |
ORPHA:434179 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:1782 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Nail dystrophy, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the de... |
ORPHA:158668 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Bilateral cleft palate, Abnormal d... |
ORPHA:3253 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Cleft palate, Microretrognathi... |
ORPHA:1307 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| Agnathia-Otocephaly Complex |
|
Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Microglossia, Aglossia |
OMIM:202650 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Nail dysplasia, Nail dystrophy, Protein-losing enteropathy, Glossitis, Hamartomatous po... |
OMIM:175500 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Esophageal atresia, Anterior pituitary hypoplasia, Anosmia, Tracheoesophageal fistula... |
ORPHA:3157 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, High palate, Ankyloglossia, Unilateral cryptorchidism, Bifid uvula, Lobula... |
OMIM:174300 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Enamel hypoplasia, Narrow mouth, Oral mucosal blisters |
OMIM:226600 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Micrognathia, Cleft palate, Microglossia, Median cleft upper lip |
OMIM:241800 |
| Familial Adenomatous Polyposis |
|
Supernumerary tooth, Pancreatic adenocarcinoma, Duodenal polyposis, Colorectal polyposis, Stomach... |
ORPHA:733 |
| Craniolenticulosutural Dysplasia |
|
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... |
ORPHA:50814 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Abnormal eyebrow morphology, Hip disloca... |
ORPHA:1106 |
| Orofaciodigital Syndrome Xiv |
|
Supernumerary tooth, Aplasia of the epiglottis, Cryptorchidism, Micrognathia, Cleft palate, Lobul... |
OMIM:615948 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid... |
OMIM:619293 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
| Hypoglossia-Hypodactyly Syndrome |
|
High palate, Narrow mouth, Anal atresia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic ... |
ORPHA:989 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion |
OMIM:613680 |
| Angelman Syndrome |
|
Widely spaced teeth, Hyperactivity, Mandibular prognathia, Protruding tongue, Hypoplasia of the m... |
OMIM:105830 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... |
OMIM:170390 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth |
OMIM:612714 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov... |
OMIM:235510 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Thick lower lip vermilion, Mesiodens, Narrow mouth, Long philtrum, Aggressive behavior |
ORPHA:314647 |
| Acrodermatitis Enteropathica |
|
Anorexia, Cheilitis, Ridged nail, Glossitis, Abnormality of the nail, Furrowed tongue, Abnormalit... |
ORPHA:37 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, High palate, Thick vermilion border, Broad philtrum, ... |
OMIM:616354 |
| Smith-Lemli-Opitz Syndrome |
|
Supernumerary tooth, Advanced eruption of teeth, Aganglionic megacolon, Hypopigmentation of hair,... |
ORPHA:818 |
| Pycnodysostosis |
|
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... |
ORPHA:763 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Nail dystrophy, Furrowed tongue |
OMIM:614204 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced os... |
OMIM:614613 |
| Schwartz-Jampel Syndrome |
|
Supernumerary tooth, Narrow mouth, Everted lower lip vermilion, High palate, Distichiasis, Attent... |
ORPHA:800 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, High palate, Narrow mouth, Downturned corners of mouth, Dental ... |
ORPHA:1327 |
| Moebius Syndrome |
|
Breast aplasia, High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Micrognath... |
ORPHA:570 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Malar flattening, Dental malocclusion |
OMIM:608257 |
| Temple-Baraitser Syndrome |
|
Everted upper lip vermilion, Delayed eruption of teeth, Gingival overgrowth, High palate, Everted... |
ORPHA:420561 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Thin vermilion border, Retrognathia, Protruding tongue, Bifid uvula, Cleft palate, Hypoplastic to... |
OMIM:612938 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia, Cleft pa... |
OMIM:210600 |
| Coffin-Siris Syndrome 2 |
|
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, High palate, Cleft palate, ... |
OMIM:614607 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614678 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
| Coffin-Siris Syndrome 3 |
|
High palate, Cleft palate, Wide mouth, Thick vermilion border, Long philtrum, Delayed eruption of... |
OMIM:614608 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ... |
ORPHA:289 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Long philtrum, Fine hair... |
ORPHA:534 |
| Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Microdontia, Carious teeth, Micrognathia, Dentinogenesis imperfecta, Long philtrum |
ORPHA:536467 |
| Caffey Disease |
|
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... |
OMIM:114000 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Narrow palate, Supernumerary tooth, Abnormal fear-induced behavior, Hyperactivity, Dental crowdin... |
ORPHA:353281 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, S... |
ORPHA:53271 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
| Pachyonychia Congenita 3 |
|
Nail dystrophy, Onychogryposis of toenails, Furrowed tongue, Gingivitis, Oral leukoplakia, Chappe... |
OMIM:615726 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
| Scarf Syndrome |
|
Long philtrum, Enamel hypoplasia, Hypocalcification of dental enamel |
ORPHA:3134 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
| Cowden Syndrome 5 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:615108 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... |
ORPHA:33445 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Narrow mouth, Carious teeth, Downturned corners of mouth, Hypoplasia of th... |
ORPHA:1110 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
| Restrictive Dermopathy |
|
Sparse or absent eyelashes, Temporomandibular joint ankylosis, Narrow mouth, Aplasia/Hypoplastia ... |
ORPHA:1662 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Carious teeth, Delayed eruption of teeth |
OMIM:277440 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, High palate, Bifid uvula, Hypodontia, Dental malocclusion |
OMIM:612350 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... |
OMIM:616300 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... |
ORPHA:2752 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Narrow mouth, Mandibular aplasia, Microglossia |
ORPHA:990 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth |
ORPHA:236 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... |
ORPHA:56305 |
| Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth |
OMIM:113000 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Thick hair, Gingival overgrowth, Abnormal eyelash morphology... |
ORPHA:193 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... |
ORPHA:2712 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth |
OMIM:614381 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening, Long philtrum, ... |
OMIM:612921 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly |
OMIM:258865 |
| Treacher-Collins Syndrome |
|
Retrognathia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, Tooth agenesis, Wide m... |
ORPHA:861 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth |
OMIM:616901 |
| Marshall-Smith Syndrome |
|
Retrognathia, Gingival overgrowth, Protruding tongue, Generalized hirsutism, Open mouth |
ORPHA:561 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Protruding tongue, Sinusitis, Micrognathia, Malar flattening, Macroglossia |
OMIM:242860 |
| Holoprosencephaly 9 |
|
Agenesis of incisor, Decreased response to growth hormone stimulation test, Thick lower lip vermi... |
OMIM:610829 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Dysphagia, Tongue atrophy |
OMIM:614153 |
| Aarskog-Scott Syndrome |
|
Orofacial cleft, Delayed eruption of teeth, Abnormality of the dentition, Everted lower lip vermi... |
ORPHA:915 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth |
OMIM:619769 |
| Ramos-Arroyo Syndrome |
|
High anterior hairline, Aganglionic megacolon, Smooth tongue, Narrow mouth, Sparse scalp hair, Ca... |
ORPHA:1051 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology |
ORPHA:531151 |
| Spinocerebellar Ataxia Type 36 |
|
Attention deficit hyperactivity disorder, Tongue fasciculations, Dysphagia, Tongue atrophy |
ORPHA:276198 |
| Cowden Syndrome 6 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:615109 |
| Osteogenesis Imperfecta, Type Vii |
|
Long philtrum, Dentinogenesis imperfecta |
OMIM:610682 |
| Codas Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1458 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy |
OMIM:620285 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hypodontia, Supernumerary tooth, Accessory oral frenulum, Median cleft upper lip |
OMIM:617088 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition |
OMIM:615802 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... |
OMIM:607143 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Micrognathia, Smooth philtrum, Hypodontia, Delayed eruption of pr... |
OMIM:619322 |
| Carey-Fineman-Ziter Syndrome |
|
Thin vermilion border, Glossoptosis, High palate, Micrognathia, Cleft palate, Pierre-Robin sequen... |
ORPHA:1358 |
| Chst3-Related Skeletal Dysplasia |
|
Long philtrum, Delayed eruption of teeth |
ORPHA:263463 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Dental crowding, Mandibular progna... |
OMIM:614188 |
| Eiken Syndrome |
|
Thick lower lip vermilion, Short philtrum, Oligodontia, Eruption failure, Multiple unerupted teet... |
OMIM:600002 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Oligodontia, Delayed eruption of teeth |
ORPHA:447896 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Everted lower lip vermilion, Stereotypical hand wringing, Pro... |
OMIM:617804 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Hypoplastic fifth toenail, High palate, Protruding tongue, Wide mouth, Thick ver... |
OMIM:618106 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Protruding tongue, Smooth philtrum, Macroorch... |
ORPHA:324410 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Wide mouth, Sparse hair, Aggressive behavior, Agenesis of incisor, Short p... |
OMIM:619841 |
| Melkersson-Rosenthal Syndrome |
|
Cheilitis, Macroglossia, Furrowed tongue |
ORPHA:2483 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downturned corners ... |
OMIM:617865 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Dystrophic fingernails, Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal d... |
ORPHA:1071 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Hyperactivity, Dental crowding, Hirsutism, High palate, Narrow mouth, Ankyloglossi... |
OMIM:616078 |
| Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for... |
OMIM:148820 |
| Ring Chromosome 22 Syndrome |
|
Inappropriate behavior, Toenail dysplasia, Protruding tongue, Thick eyebrow, Thick vermilion border |
ORPHA:1446 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:277580 |
| Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, Coxa valga,... |
ORPHA:198 |
| Icf Syndrome |
|
Micrognathia, Macroglossia, Protruding tongue |
ORPHA:2268 |
| Hamamy Syndrome |
|
Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Micrognathia, Wide mouth... |
OMIM:611174 |
| Ulnar-Mammary Syndrome |
|
Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Anal atresi... |
OMIM:181450 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Thin vermilion border, Delayed eruption of teeth, Carious teeth, Micrognathia, Long philtrum |
OMIM:214150 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, A... |
ORPHA:1988 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Pulp calcification, Microdontia |
OMIM:606895 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Short philtrum, High palate, Furrowed tongue, Everted lower lip vermilion, Cleft pa... |
OMIM:616449 |
| Microphthalmia, Syndromic 2 |
|
Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Oligodontia,... |
OMIM:300166 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
| Frontorhiny |
|
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cleft palate, Hypopituitarism, Widow's pe... |
ORPHA:391474 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Dental crowding, Hyperactivity, Impulsivity, Intestinal malrotation, Aggre... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Dental crowding, Hyperactivity, Impulsivity, Intestinal malrotation, Aggre... |
ORPHA:353277 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Supernumerary tooth, Retrognathia, Widely spaced teeth, Decreased response to growth hormone stim... |
ORPHA:268261 |
| Orofaciodigital Syndrome Type 1 |
|
Broad alveolar ridges, Sparse hair, Accessory oral frenulum, Tongue nodules, Lip pit, Brittle hai... |
ORPHA:2750 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Raine Syndrome |
|
Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, Protruding to... |
OMIM:259775 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis, Anorexia |
ORPHA:90045 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Small nail, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, Hi... |
OMIM:608670 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
High anterior hairline, Gingival overgrowth, Protruding tongue, Horizontal eyebrow, Wide mouth, L... |
OMIM:618797 |
| Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Dental malocclusion, Microretrognathia |
OMIM:615560 |
| Developmental And Epileptic Encephalopathy 80 |
|
Small nail, High palate, Protruding tongue, Micrognathia, Wide mouth, Tented upper lip vermilion,... |
OMIM:618580 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati... |
OMIM:619229 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi... |
OMIM:200990 |
| Cockayne Syndrome Type 1 |
|
Hypoplasia of the primary teeth, Mandibular prognathia, Abnormality of the dentition, Enamel hypo... |
ORPHA:90321 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Nail dysplasia, Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Absent ... |
ORPHA:89842 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Red hair |
ORPHA:71526 |
| Hypomandibular Faciocranial Dysostosis |
|
Maxillozygomatic hypoplasia, Narrow mouth, Bifid uvula, Cleft palate, Aplasia/Hypoplasia of the t... |
ORPHA:1790 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Micrognathia, Natal tooth |
OMIM:617802 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Parathyroid hyperplasia, Calvarial osteosclerosis |
OMIM:617994 |
| Hereditary Acrokeratotic Poikiloderma |
|
Nail dystrophy, Dystrophic fingernails, Trismus, Open bite, Gingival bleeding, Abnormality of the... |
ORPHA:2907 |
| Angelman Syndrome |
|
Widely spaced teeth, Tongue thrusting, Hyperactivity, Mandibular prognathia, Recurrent hand flapp... |
ORPHA:72 |
| Immunodeficiency 49 |
|
Micrognathia, Natal tooth, Short philtrum |
OMIM:617237 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Dental malocclusion, Gingival overgrowth, Long eyelashes, Cryptorchidism, Downt... |
OMIM:616894 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Premature loss of teeth |
OMIM:610965 |
| Kilquist Syndrome |
|
Hypoplasia of teeth, Mandibular prognathia, Wide mouth |
OMIM:619080 |
| Schopf-Schulz-Passarge Syndrome |
|
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... |
OMIM:224750 |
| Cowden Syndrome 1 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M... |
OMIM:158350 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
| Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Carious teeth, Natal tooth |
OMIM:616395 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... |
OMIM:613091 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Micrognathia, Ankyloglossia, Bile duct proliferation |
OMIM:619525 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Furrowed tongue, Erythematous or... |
OMIM:158310 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
| Cornelia De Lange Syndrome 6 |
|
Long philtrum, Cleft lip, Macrodontia of permanent maxillary central incisor |
OMIM:620568 |
| Hartnup Disease |
|
Glossitis, Gingivitis |
ORPHA:2116 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue |
ORPHA:2167 |
| Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Gingivitis |
ORPHA:3194 |
| Teebi Hypertelorism Syndrome 1 |
|
Dental crowding, Micrognathia, Natal tooth, Long philtrum, Thin upper lip vermilion |
OMIM:145420 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Mandibular pain, Polydipsia, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Para... |
ORPHA:99880 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Micrognathia, Cleft palate, Abnormality of frontal sinus |
ORPHA:436003 |
| Scarf Syndrome |
|
Long philtrum, Enamel hypoplasia |
OMIM:312830 |
| Bloom Syndrome |
|
Agenesis of maxillary lateral incisor, Malar flattening, Hypertrichosis, Cryptorchidism |
OMIM:210900 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypoplastic iliac wi... |
ORPHA:96334 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Oral ulcer, Microdontia, Enamel hypoplasia, Downturned corners of mouth,... |
OMIM:617052 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, Trismus, High palate, Glossoptosis, Micrognathia, Cleft palate, Pierre-Robin sequen... |
OMIM:254940 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm... |
ORPHA:666 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upper lip, Natal tooth, Hypo... |
OMIM:225500 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, High, narrow palate, Delayed eruption of teeth, Micrognathia, Bifid uvula, Cleft pa... |
ORPHA:2780 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Glossoptosis, Alopecia |
ORPHA:47 |
| Parathyroid Carcinoma |
|
Mandibular pain, Polydipsia, Peptic ulcer, Parathyroid carcinoma, Testicular neoplasm, Primary hy... |
ORPHA:143 |
| Acro-Renal-Mandibular Syndrome |
|
Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, Micrognathia, Hypoplasia... |
ORPHA:958 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Nail dystrophy, Pterygium of nails, Small nail, Sparse scalp hair, Microdontia, Sparse eyelashes,... |
OMIM:224230 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Delayed eruption of teeth |
ORPHA:73272 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Bifid uvula, Glossoptosis, Cleft palate |
ORPHA:1427 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High, narrow palate, Short philtrum, Cholelithiasis, Mandibular prognathia, Exagger... |
ORPHA:464738 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
| Juvenile Sialidosis Type 2 |
|
Generalized hypertrichosis, Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... |
OMIM:119800 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil... |
OMIM:615866 |
| Trichorhinophalangeal Syndrome, Type I |
|
Narrow palate, Delayed eruption of teeth, Microdontia, Carious teeth, Micrognathia, Deep philtrum... |
OMIM:190350 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:3437 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia |
OMIM:243150 |
| Orofaciodigital Syndrome Type 6 |
|
Highly arched eyebrow, Tongue nodules, High palate, Bilateral cryptorchidism, Abnormal oral frenu... |
ORPHA:2754 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped... |
OMIM:307800 |
| Omodysplasia 1 |
|
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... |
OMIM:258315 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou... |
OMIM:607812 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Stereotypical hand wringing, Protruding tongue, Long philtrum, Prominent eye... |
OMIM:619179 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm... |
ORPHA:999 |
| Melnick-Needles Syndrome |
|
Micrognathia, Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition |
ORPHA:2484 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Polydipsia, Mandibular prognathia, Aplasia/Hypoplasia of the pancreas |
ORPHA:93111 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
| Myopathy, Myofibrillar, 7 |
|
Dysphagia, Tongue atrophy |
OMIM:617114 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Au-Kline Syndrome |
|
Retrognathia, Oligodontia, High palate, Sparse lateral eyebrow, Downturned corners of mouth, Bifi... |
OMIM:616580 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Onychogryposis, Smooth tongue, Enamel hypoplasia, Oral mucosal blisters, Alopecia |
ORPHA:79396 |
| Johanson-Blizzard Syndrome |
|
Oligodontia, Abnormality of the dentition, Microdontia, Delayed eruption of teeth |
ORPHA:2315 |
| Kinsship Syndrome |
|
Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Gingival overgrowth, Mandibular p... |
OMIM:619297 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cleft palate, Gingivitis, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2314 |
| Robinow Syndrome |
|
Nail dysplasia, Orofacial cleft, High anterior hairline, Triangular mouth, Tooth malposition, Hyp... |
ORPHA:97360 |
| Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Glossoptosis, Narrow mouth, Micrognathia, Cleft palate, Pierre-Robin sequence, Smoot... |
OMIM:611209 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
| Barber-Say Syndrome |
|
Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Nail dysplasia, Retrognathia, Dental crowding, Long philtrum, Narrow palate, Triangular mouth, Ma... |
OMIM:180700 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Motor stereotypy, Atte... |
OMIM:619580 |
| Recon Progeroid Syndrome |
|
Thin vermilion border, Dental crowding, Smooth philtrum, Delayed eruption of permanent teeth, Pro... |
OMIM:620370 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal zygomatic bone morphology, Tooth malposition, Mandibular prognathia, Carious teeth, Fail... |
ORPHA:2769 |
| Bardet-Biedl Syndrome 17 |
|
Hyposmia, Polydipsia, Anosmia |
OMIM:615994 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Carious teeth, Mi... |
OMIM:117650 |
| Developmental And Epileptic Encephalopathy 100 |
|
Hypoplastic fingernail, Gingival overgrowth, High palate, Microdontia, Protruding tongue, Synophr... |
OMIM:619777 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
| 8Q24.3 Microdeletion Syndrome |
|
Mesiodens, Highly arched eyebrow, Hyperactivity, Tics, Long eyelashes, Thick eyebrow, Dysphagia, ... |
ORPHA:508488 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Thick lower lip vermilion, Absent frontal sinuses, Mandibular prognathia, Protruding tongue, Cryp... |
OMIM:301040 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Retrognathia, Microdontia |
OMIM:210720 |
| Nephronophthisis 9 |
|
Polydipsia |
OMIM:613824 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Absent frontal sinuses, Premature loss of teeth, Oligodontia, High pal... |
OMIM:224300 |
| Lethal Acantholytic Erosive Disorder |
|
Cleft palate, Natal tooth |
ORPHA:158687 |
| Tarp Syndrome |
|
Meckel diverticulum, High palate, Glossoptosis, Micrognathia, Cleft palate, Tongue nodules |
OMIM:311900 |
| Amyotrophic Lateral Sclerosis |
|
Agitation, Dysphagia, Xerostomia, Tongue atrophy |
ORPHA:803 |
| Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Hyperactivity, Compulsive behaviors, Abnormal drinking behavior, Thyroid dysg... |
ORPHA:209905 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... |
ORPHA:192 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ... |
OMIM:300896 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... |
OMIM:300554 |
| Pelvis-Shoulder Dysplasia |
|
Facial hirsutism, Thick anterior alveolar ridges, Micrognathia, Cleft palate, Microglossia |
ORPHA:2839 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... |
ORPHA:37553 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... |
OMIM:164900 |
| Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
| Oligomeganephronia |
|
Polydipsia, Micrognathia |
ORPHA:2260 |
| 3M Syndrome |
|
Long philtrum, Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption o... |
ORPHA:2616 |
| Ochoa Syndrome |
|
Polydipsia, Cryptorchidism |
ORPHA:2704 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Advanced eruption of teeth, Cleft palate, Short philtrum |
ORPHA:949 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, High palate, Low posterior hairline, Protruding tongue, Intestinal malrotation, C... |
OMIM:300963 |
| Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis |
OMIM:266270 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin vermilion border, Short philtrum, Narrow mouth, Abnormality of the dentition, Microdontia, C... |
ORPHA:363611 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, High, narrow palate, Everted lower lip vermilion, Micrognathia, Wide mouth, Long ph... |
ORPHA:96092 |
| Developmental And Epileptic Encephalopathy 31B |
|
Choking episodes, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Goiter, Polyphagia, Hyperactivity |
ORPHA:525731 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, High palate, Recurrent hand flapping, Frequent temper tantrums, Protruding... |
OMIM:617062 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Adrenal hyperplasia |
ORPHA:403 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Highly arched eyebrow, Narrow mouth, Compulsive behaviors, Ankyloglossia, Ab... |
ORPHA:261330 |
| Orofaciodigital Syndrome Vi |
|
High palate, Incomplete cleft of the upper lip, Cleft upper lip, Cleft palate, Lobulated tongue, ... |
OMIM:277170 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Thick lower lip vermilion, Abnormality of the dentition, Natal tooth |
ORPHA:261652 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Gingival overgrowth, Micrognathia, Natal tooth |
ORPHA:313855 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Narrow mouth, Protruding tongue, Micrognathia, Low anterior hairline, Thick vermili... |
OMIM:608779 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Dysphagia, Tongue atrophy |
OMIM:211530 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Delayed eruption of permanent teeth, Mandibular prognathia, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
| Short Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Dental malocclu... |
OMIM:269880 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Retrognathia, Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Short philtrum,... |
OMIM:619950 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Intestinal pseudo-obstruction, Bruxism, Abnormality of primary teeth, Open b... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Intestinal pseudo-obstruction, Bruxism, Abnormality of primary teeth, Open b... |
ORPHA:352665 |
| Tarp Syndrome |
|
Glossoptosis, Cryptorchidism, Micrognathia, Pierre-Robin sequence, Cleft palate, Thick eyebrow, A... |
ORPHA:2886 |
| Microphthalmia, Lenz Type |
|
Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:568 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu... |
OMIM:603671 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Eruption failure, High palate, Abnormality of the dentition, Micrognathia, Long ... |
ORPHA:476126 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth, High ... |
OMIM:619148 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization |
ORPHA:47159 |
| Codas Syndrome |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:600373 |
| Gm1-Gangliosidosis, Type Ii |
|
Gingival overgrowth, Narrow mouth, Dysphagia, Protruding tongue |
OMIM:230600 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... |
ORPHA:2250 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet... |
OMIM:149730 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Inguinal hernia, White hair, Fine h... |
ORPHA:935 |
| Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Open mouth |
ORPHA:950 |
| Agel Amyloidosis |
|
Xerostomia, Nail dystrophy, Sparse hair, Tongue atrophy |
ORPHA:85448 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Premature loss of primary teeth, Sparse hair, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:50944 |
| Doors Syndrome |
|
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu... |
ORPHA:79500 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow mouth, Downtur... |
ORPHA:2215 |
| Kabuki Syndrome 2 |
|
High palate, Micrognathia, Cleft palate, Natal tooth, Hypodontia, Lower lip pit, Dental malocclusion |
OMIM:300867 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Glossoptosis, Narrow mouth, Hypoplastic frontal sinuses, Micrognathia, Cleft palate,... |
ORPHA:90652 |
| Barber-Say Syndrome |
|
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Mandi... |
OMIM:209885 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Cleft palate, Glossitis |
ORPHA:79284 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... |
OMIM:263520 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Osteoporosis, A... |
ORPHA:90354 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nail dysplasia, Retrognathia, Small nail, Dental crowding, Tooth agenesis, Wide mouth, Long philt... |
OMIM:268310 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Everted lower lip vermilion, Abnormal testis morphology, Protruding tongue... |
ORPHA:96147 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bruxism, Oligodontia, High palate, Furrowed tongue, Cryptorchidism, Downturned corners of mouth, ... |
ORPHA:453499 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Retrognathia, Highly arched eyebrow, Everted lower lip vermilion, Broad philtrum, Aggressive beha... |
OMIM:620450 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Everted lower lip vermilion, Microdontia, Wide mouth, Dysphagia, Long philtrum, Br... |
OMIM:615873 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Absent frontal sinuses, Selective tooth agenesis, High palate, Persist... |
OMIM:305620 |
| Opitz Gbbb Syndrome |
|
Hypodontia, Ectopic anus, High palate, Ankyloglossia, Tracheoesophageal fistula, Anal atresia, Mi... |
ORPHA:2745 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Adrenal hyperplasia |
ORPHA:251274 |
| Gapo Syndrome |
|
Abnormal palate morphology, Delayed eruption of teeth, Mandibular prognathia, Everted lower lip v... |
ORPHA:2067 |
| Genitopatellar Syndrome |
|
Long philtrum, Micrognathia, Delayed eruption of teeth |
ORPHA:85201 |
| Rubinstein-Taybi Syndrome 1 |
|
Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Narrow mouth, Talon cusp, High... |
OMIM:180849 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic nipples, Median cleft palate, Intestinal malrotation, Natal tooth, Lobulated tongue, ... |
OMIM:269860 |
| Emanuel Syndrome |
|
Broad jaw, Tooth malposition, Delayed eruption of teeth, Dental crowding, High palate, Micrognath... |
ORPHA:96170 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:94068 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Cerebrocostomandibular Syndrome |
|
Short hard palate, Micrognathia, Cleft palate, Glossoptosis |
ORPHA:1393 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth |
OMIM:309900 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Hypoplastic fing... |
OMIM:228520 |
| Squalene Synthase Deficiency |
|
Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Abnormality of hair pigmentatio... |
OMIM:618156 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth |
OMIM:272460 |
| Helix Syndrome |
|
Polydipsia, Xerostomia, Hyperparathyroidism |
OMIM:617671 |
| Panhypophysitis |
|
Polydipsia, Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal size ... |
ORPHA:95513 |
| Down Syndrome |
|
Narrow palate, Thick lower lip vermilion, Aganglionic megacolon, Narrow mouth, Abnormality of the... |
ORPHA:870 |
| Kindler Syndrome |
|
Anal stenosis, Ridged nail, Periodontitis, Gingivitis, Carious teeth, Dysphagia, Oral leukoplakia... |
OMIM:173650 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Decreased response to growth hormone stimulation test, Compulsive behaviors, Everted ... |
ORPHA:293987 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormality of the dentition, Enamel hypoplasia, Micrognathia, Cleft palat... |
OMIM:151050 |
| Generalized Pustular Psoriasis |
|
Abnormality of the nail, Geographic tongue, Cheilitis |
ORPHA:247353 |
| Blomstrand Lethal Chondrodysplasia |
|
Protruding tongue, Micrognathia, Natal tooth, Malar flattening, Long philtrum |
ORPHA:50945 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Narrow palate, Severe periodontitis, Broad eyebrow, Premature loss of teeth, Long upper lip, Ging... |
ORPHA:99843 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Nail dystrophy, Small nail, Aplasia of the thymus, Hypoplastic nipples, Thyroid hypoplasia, Absen... |
OMIM:620186 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:79477 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Nail dystrophy, Anal fissure, Narrow mouth, Ankyloglossia, Carious teeth, Esophageal ulceration, ... |
ORPHA:79408 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Retrognathia, Highly arched eyebrow, Glossoptosis, Microdontia, Eclabion, ... |
OMIM:602535 |
| Arboleda-Tham Syndrome |
|
Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt... |
OMIM:616268 |
| Congenital Sialidosis Type 2 |
|
Generalized hypertrichosis, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Stomatitis, Glossitis, High palate, Tracheoesophageal fistula, Thin upper lip vermilion |
OMIM:277380 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Broad eyebrow, Duodenal atresia, Small nail, Broad alveolar ridges, High palate... |
OMIM:616975 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Adrenal hyperplasia |
ORPHA:369929 |
| Apert Syndrome |
|
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Bifid... |
ORPHA:87 |
| Joubert Syndrome 1 |
|
Highly arched eyebrow, Hyperactivity, Protruding tongue, Triangular-shaped open mouth, Macrogloss... |
OMIM:213300 |
| Kleefstra Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Mandibular prognathia, Exaggerated cupid's... |
ORPHA:261494 |
| East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar... |
ORPHA:91351 |
| Arima Syndrome |
|
Polydipsia, Esophageal varix, Wide mouth |
OMIM:243910 |
| Gracile Bone Dysplasia |
|
Ankyloglossia |
OMIM:602361 |
| Trichothiodystrophy |
|
Retrognathia, High, narrow palate, Enamel hypoplasia, Carious teeth, Hypoplasia of mandible relat... |
ORPHA:33364 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair |
ORPHA:100 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
| Hypomagnesemia 3, Renal |
|
Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel, Polydipsia |
OMIM:248250 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Widely spaced teeth, High palate, Everted lower lip vermilion, Microdontia, ... |
OMIM:218330 |
| Giant Cell Arteritis |
|
Glossitis, Anorexia, Alopecia |
ORPHA:397 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Hypodontia, Dental m... |
OMIM:101800 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Adrenal hyperplasia |
OMIM:613677 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Enamel hypoplasia, Dental malocclusion... |
OMIM:216400 |
| Cousin Syndrome |
|
Facial hirsutism, Micrognathia, Cleft palate, Low anterior hairline, Microglossia, Alveolar ridge... |
OMIM:260660 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
| Sotos Syndrome |
|
Narrow palate, Advanced eruption of teeth, High, narrow palate, Mandibular prognathia, High palat... |
OMIM:117550 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Thin vermilion border, Widely spaced teeth, Conical incisor, Facial hypertr... |
OMIM:261540 |
| Catel-Manzke Syndrome |
|
High palate, Glossoptosis, Narrow mouth, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Bi... |
OMIM:616145 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Tongue atrophy |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Dysphagia, Open mouth, Macroglossia |
ORPHA:258 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Protein-losing enteropathy, Esophageal varix, Pancreatic cysts, Biliary hyperplasia, ... |
ORPHA:731 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2036 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Facial hirsutism, Thick hair, Highly arche... |
ORPHA:444077 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Thick lower lip vermilion, Delayed eruption of teeth, Narrow mouth, Abnormal... |
ORPHA:369950 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Abn... |
ORPHA:1827 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, High palate, Protruding tongue, Cryptorchidism, Micrognathia, Malar flatteni... |
OMIM:214100 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Micrognathia, Bifid ... |
OMIM:300990 |
| Whipple Disease |
|
Polydipsia, Anorexia |
ORPHA:3452 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ... |
OMIM:200980 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
| Stickler Syndrome |
|
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... |
ORPHA:828 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Downturned corners of mouth, Cleft palate, Microretrognathia, Hy... |
ORPHA:488642 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Carpenter Syndrome 1 |
|
High palate, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Malar flatten... |
OMIM:201000 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Cleft palate, Micrognathia, Thin upper lip ... |
OMIM:247200 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Adrenal hyperplasia |
ORPHA:231580 |
| Lacrimoauriculodentodigital Syndrome |
|
Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2363 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
| Distal Deletion 15Q |
|
Short philtrum, Small nail, Abnormality of the dentition, Micrognathia, Cleft palate, Attention d... |
ORPHA:1596 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Esophageal varix, Attention deficit hyperactivity disorder, Aggressive beh... |
ORPHA:84081 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
| Monosomy 9Q22.3 |
|
Orofacial cleft, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, Narrow mouth, Lon... |
ORPHA:77301 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula, Natal tooth, Malar fl... |
OMIM:123790 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Nail-Patella Syndrome |
|
Enamel hypoplasia |
ORPHA:2614 |
| Zimmermann-Laband Syndrome 1 |
|
Short philtrum, Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Mandibular... |
OMIM:135500 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Gingival overgrowth, Delayed eruption of teeth |
ORPHA:508542 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Retrognathia, Delayed eruption of teeth, High palate, Open mouth, Deep philtrum |
ORPHA:1675 |
| Pallister-Hall Syndrome |
|
Nail dysplasia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Anal a... |
OMIM:146510 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Ankyloglossia, Attention deficit hyperactivity disorder, Long philtrum, Cryptorchidism |
ORPHA:250989 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
| Fontaine Progeroid Syndrome |
|
Retrognathia, Small nail, Everted lower lip vermilion, Microdontia, Low posterior hairline, Long ... |
OMIM:612289 |
| Spondyloenchondrodysplasia |
|
Dental malocclusion, Delayed eruption of teeth |
ORPHA:1855 |
| Glucagonoma |
|
Anorexia, Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Increased circulating go... |
ORPHA:97280 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, Alveolar ridge ... |
OMIM:301072 |
| Microphthalmia, Syndromic 1 |
|
Orofacial cleft, High, narrow palate, Aganglionic megacolon, Rectal prolapse, Tooth malposition, ... |
OMIM:309800 |
| Phocomelia, Schinzel Type |
|
Nail dysplasia, Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abno... |
ORPHA:2879 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Narrow philtrum, Hypoplasia of th... |
OMIM:601812 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue, Micrognathia, Dysphagia, Ectopic posterior pituitary, Pseudobulbar paralysis |
ORPHA:98889 |
| Lead Poisoning |
|
Delayed eruption of teeth |
ORPHA:330015 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... |
OMIM:203300 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Intestinal perforation, Dysphagia, Tracheoesophageal fistula |
ORPHA:537 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... |
OMIM:211350 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Micrognathia... |
OMIM:223370 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
| Gapo Syndrome |
|
High, narrow palate, Thick lower lip vermilion, Eruption failure, Micrognathia, Long philtrum |
OMIM:230740 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79443 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... |
OMIM:164745 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Gingival overgrowth, Micrognathia, Delayed eruption of teeth |
OMIM:259600 |
| Endocrine-Cerebroosteodysplasia |
|
Median cleft palate, Thick upper lip vermilion, Micrognathia, Natal tooth, Bilateral cleft lip, M... |
OMIM:612651 |
| Incontinentia Pigmenti |
|
Hypodontia, Oligodontia, Delayed eruption of teeth, Conical tooth |
OMIM:308300 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tibial bowing, Femoral ... |
ORPHA:140 |
| Meckel Syndrome |
|
Furrowed tongue, Cryptorchidism, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the tongue, Pa... |
ORPHA:564 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thick lower lip vermilion, Hyperactivity, High palate, Short upper lip, Hypoplastic philtrum, Pro... |
OMIM:309580 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Carious teeth |
ORPHA:90324 |
| Yunis-Varon Syndrome |
|
Thin vermilion border, High, narrow palate, Broad secondary alveolar ridge, Short philtrum, Gingi... |
ORPHA:3472 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy |
ORPHA:99949 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Delayed eruption of teeth |
ORPHA:289176 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Micro... |
ORPHA:221008 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thick lower lip vermilion, Dental malocclusion, Dental crowding, High palate, Paranasal sinus hyp... |
OMIM:300373 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Primary hyperparathyroidism |
OMIM:239200 |
| Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Eruption failure, Mandibular prognathia, High palate, Hypoplasia of th... |
OMIM:166250 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, High palate, Abnormality of the den... |
ORPHA:221016 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Clinodactyly of the 5th finger, Hypopigmentation of hair, Finger syndactyly, Short foot... |
ORPHA:1974 |
| Meckel Syndrome, Type 1 |
|
Anal atresia, Bile duct proliferation, Intestinal malrotation, Cleft upper lip, Micrognathia, Cle... |
OMIM:249000 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Pheochromocytoma, Thyroid... |
ORPHA:653 |
| De Barsy Syndrome |
|
Narrow mouth, Small, conical teeth, High palate, Delayed eruption of teeth |
ORPHA:2962 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... |
OMIM:114290 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Menkes Disease |
|
Abnormal metaphysis morphology, Tarsal synostosis, Hypopigmentation of hair, Inguinal hernia, Bow... |
ORPHA:565 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Cockayne Syndrome |
|
Abnormal dental morphology, Enamel hypoplasia, Carious teeth, Dental malocclusion, Agenesis of pe... |
ORPHA:191 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo... |
ORPHA:464 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Hutchinson-Gilford Progeria Syndrome |
|
Thin vermilion border, Retrognathia, Dystrophic fingernails, Loss of eyelashes, Delayed eruption ... |
ORPHA:740 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Tooth malposition, Micrognathia, Cleft palate |
OMIM:309350 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
| Apert Syndrome |
|
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Bifid uvula, Cleft palate, Malar... |
OMIM:101200 |
| Stüve-Wiedemann Syndrome |
|
Smooth tongue, Ectopic thyroid, Abnormality of the dentition, Trismus |
ORPHA:3206 |
| Neuroocular Syndrome |
|
Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Highly arched eyebrow, Brittl... |
OMIM:619539 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
| Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Hip dysplasia, ... |
ORPHA:398079 |
| Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Short philtrum, Tooth malposition, Failure of eruption of permanent t... |
ORPHA:2896 |
| Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Everted lower lip vermilion, ... |
ORPHA:1519 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umb... |
OMIM:304120 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa |
ORPHA:79404 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... |
ORPHA:3322 |
| Gitelman Syndrome |
|
Polydipsia, Salt craving |
OMIM:263800 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Kawasaki Disease |
|
Abnormality of nail color, Cheilitis, Glossitis, Strawberry tongue, Lip fissure |
ORPHA:2331 |
| Mucopolysaccharidosis, Type Vi |
|
Carious teeth, Macroglossia, Delayed eruption of teeth |
OMIM:253200 |
| Wolfram Syndrome |
|
Polydipsia, Gastric ulcer |
ORPHA:3463 |
| Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phalanx of hallux... |
OMIM:236680 |
| Degcags Syndrome |
|
Premature graying of hair, Retrognathia, Low posterior hairline, Choking episodes, Abnormal eyebr... |
OMIM:619488 |
| Fraser Syndrome |
|
Orofacial cleft, Anal stenosis, Dental crowding, Ectopic anus, High palate, Anal atresia, Cleft u... |
ORPHA:2052 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Thick lower lip vermilion, Tooth malposition, High palate, Abnormality of the denti... |
ORPHA:2785 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Widely spaced teeth, Delayed eruption of teeth, High palate, Cleft upper lip... |
OMIM:122470 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-bangi... |
ORPHA:2388 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... |
ORPHA:98754 |
| Cowden Syndrome |
|
Adenoma sebaceum, Colorectal polyposis, High palate, Furrowed tongue, Enlarged polycystic ovaries... |
ORPHA:201 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Flexion contrac... |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Translocation |
|
Clinodactyly of the 5th finger, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate... |
ORPHA:177907 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... |
ORPHA:177901 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, High palate, Abnormality of the dentition, Micrognathia, Wide mouth, S... |
ORPHA:235 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Everte... |
OMIM:280000 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Pituitary growth hor... |
ORPHA:1359 |
| Coffin-Siris Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, Wide mouth, Broad philtrum, Thin upper lip ... |
ORPHA:1465 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Impulsivity, Broad philtrum, Bruxism, Aggressive behavior, Agitation, Short uvula,... |
OMIM:619475 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Arachno... |
ORPHA:96169 |
| Lowe Oculocerebrorenal Syndrome |
|
Enamel hypoplasia |
OMIM:309000 |
| Microsporidiosis |
|
Sinusitis, Glossitis, Anorexia, Abnormality of the parathyroid gland |
ORPHA:2552 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Oligodontia, Enamel hypoplasia, Cleft upper lip, Cleft palate, Hypodon... |
OMIM:305600 |
| Achondrogenesis, Type Ia |
|
Protruding tongue |
OMIM:200600 |
| Okamoto Syndrome |
|
Anal stenosis, Open bite, Exaggerated median tongue furrow, Extension of hair growth on temples t... |
ORPHA:2729 |
| Erdheim-Chester Disease |
|
Polydipsia |
ORPHA:35687 |
| Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth |
ORPHA:1328 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, High palate, Microdontia, Carious teeth, Microretrognathia, Smooth phi... |
OMIM:278250 |
| Down Syndrome |
|
Aganglionic megacolon, Anal atresia, Protruding tongue, Duodenal stenosis, Malar flattening, Macr... |
OMIM:190685 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal thumb morphology, Hypopigmentation of hair, Inguinal hernia, Arachnodactyly, Iris hypopi... |
ORPHA:2719 |
| Adnp Syndrome |
|
Advanced eruption of teeth, Thick lower lip vermilion, Thin upper lip vermilion, Smooth philtrum |
ORPHA:404448 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Premature loss of primary teeth, Delayed eruption of teeth |
ORPHA:667 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, High palate, Carious teeth, Smooth philtrum, Long philtrum, Small, con... |
ORPHA:2834 |
| Gitelman Syndrome |
|
Polydipsia, Neoplasm of the pancreas, Parathyroid adenoma, Salt craving |
ORPHA:358 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Shwachman-Diamond Syndrome |
|
Sinusitis, Carious teeth, Oral ulcer, Delayed eruption of teeth |
ORPHA:811 |
| Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Hip dysplasia, ... |
ORPHA:739 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia, Hypopigmentation of hair |
OMIM:219800 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplasia of the radius, Triphalangeal ... |
ORPHA:233 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Delayed eruption of teeth, Dental crowding, Mandibular prognathia, Narrow mout... |
OMIM:619503 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the tooth germ, Eruption failure, Short dental root, Hypoplasia of the maxilla, Car... |
OMIM:182250 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Periodontitis, Oral ulcer, Gingivitis, Carious teeth, Delayed eruption of permanent teeth |
ORPHA:79259 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Hyperactivity, Broad alveolar ridges, Dental crowding, Intestinal malrotat... |
OMIM:270400 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow palate, Meckel diverticulum, Gingival overgrowth, Mandibular prognathia, Exaggerated media... |
OMIM:312870 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Micrognathia, Long philtrum, Cry... |
ORPHA:93271 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... |
OMIM:214500 |
| Viss Syndrome |
|
Retrognathia, High, narrow palate, Cleft soft palate, Alopecia, Chronic gastritis, Hirsutism, Hig... |
OMIM:619472 |
| Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
| Pallister-Hall Syndrome |
|
Nail dysplasia, Abnormal prolactin level, Pituitary hypothyroidism, Panhypopituitarism, Thyroid h... |
ORPHA:672 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Hypopigmentation of the skin, Long e... |
ORPHA:79430 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Inguinal hernia, Generalized hypopi... |
ORPHA:84064 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
| Microphthalmia, Syndromic 6 |
|
Retrognathia, Anterior hypopituitarism, High palate, Micrognathia, Bifid uvula, Cleft palate, Mic... |
OMIM:607932 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... |
ORPHA:2753 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Widely spaced teeth, Delayed eruption of teeth, High palate, Microdontia, Long philtrum |
OMIM:143095 |
| Schinzel-Giedion Syndrome |
|
Retrognathia, Short philtrum, Delayed eruption of teeth, Broad alveolar ridges, High palate, Micr... |
ORPHA:798 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
| Plague |
|
Anorexia, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis, Chapped lip |
ORPHA:707 |
| Restrictive Dermopathy 1 |
|
Temporomandibular joint ankylosis, Narrow mouth, Micrognathia, Natal tooth, Submucous cleft hard ... |
OMIM:275210 |
| Floating-Harbor Syndrome |
|
Short philtrum, Oligodontia, Microdontia, Persistence of primary teeth, Hypoplasia of the maxilla... |
ORPHA:2044 |
| Coffin-Siris Syndrome 1 |
|
Retrognathia, Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Conical tooth... |
OMIM:135900 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin vermilion border, Delayed eruption of teeth, Hypodontia, Narrow mouth, Downturned corners of... |
OMIM:264090 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia |
OMIM:241200 |
| Vici Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Micrognathia, Albinism, Ocular albinism |
OMIM:242840 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Omphalocel... |
OMIM:214800 |
| Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Enamel hypoplasia, Micrognathia, Cleft pa... |
OMIM:601803 |
| Cornelia De Lange Syndrome |
|
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, High palate, Downturned co... |
ORPHA:199 |
| Chédiak-Higashi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... |
ORPHA:167 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Delayed eruption of teeth, Narrow mouth, Cleft upper lip, Cleft ... |
ORPHA:138 |
| Mowat-Wilson Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Cleft palate, Submucous cleft ... |
OMIM:235730 |
| Genitopatellar Syndrome |
|
Micrognathia, Delayed eruption of teeth |
OMIM:606170 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed eruption of teeth, Tooth ma... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Cleft hard palate, Delayed eruption of teeth, Too... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed eruption of teeth, Tooth ma... |
ORPHA:261552 |
