Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Exostoses |
ORPHA:1653 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Osteomas Of Mandible |
|
Osteoma, Abnormal mandible morphology |
OMIM:166400 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Steatocystoma Multiplex With Natal Teeth |
|
Steatocystoma multiplex, Natal tooth |
OMIM:184510 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino... |
ORPHA:79405 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino... |
ORPHA:79406 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Carious teeth, Breast carcinoma, Conical incisor, Actinic ... |
OMIM:614564 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino... |
ORPHA:79411 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue |
OMIM:226670 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia |
ORPHA:99329 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... |
OMIM:619719 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino... |
ORPHA:79409 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... |
OMIM:613823 |
Mulibrey Nanism |
|
Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malo... |
OMIM:253250 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atypical scarring of skin, Atrophi... |
ORPHA:79410 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia |
OMIM:212780 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... |
ORPHA:10 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... |
OMIM:619980 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Inclusion body fibromatosis, C... |
ORPHA:88630 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia |
ORPHA:557003 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Squamous cell carcinoma, Atrophic s... |
OMIM:226600 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Oslam Syndrome |
|
Carious teeth, Osteosarcoma |
ORPHA:2760 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Amelogenesis imperfecta |
OMIM:612783 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Basal cell carcinoma, Hemangioma |
OMIM:163200 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:618292 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... |
OMIM:619293 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo... |
OMIM:619184 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Shagreen patch |
ORPHA:1816 |
Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Ohdo Syndrome |
|
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... |
OMIM:249620 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Smooth philtrum, Taurodontia |
OMIM:614378 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... |
OMIM:210600 |
Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Myelodysplasia, Conical tooth |
OMIM:617475 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, ... |
ORPHA:2409 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth |
OMIM:146300 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... |
ORPHA:364028 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Trisomy 4P |
|
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Abnormal p... |
ORPHA:1738 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema |
OMIM:619718 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Medulloblastoma, Fibro... |
OMIM:175100 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... |
OMIM:620250 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Tuberous Sclerosis 1 |
|
Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... |
OMIM:191100 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology |
ORPHA:1390 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Temtamy Syndrome |
|
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia |
OMIM:218340 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... |
OMIM:253000 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth |
ORPHA:2728 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Carious teeth, Limb joint contracture, Hypodontia |
OMIM:612079 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... |
OMIM:259775 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia... |
OMIM:617052 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... |
ORPHA:2916 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... |
ORPHA:3253 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... |
OMIM:253010 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Neoplasm, Hypocalcification of dental enamel |
ORPHA:169090 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphoproliferative disorder, Abnormal primary molar morphology, Hypodontia, Non-Hodgkin lymphoma... |
ORPHA:1830 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia, T-cell lymphoma |
OMIM:243150 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring |
OMIM:610965 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Gardner Syndrome |
|
Astrocytoma, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros... |
ORPHA:79665 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch |
ORPHA:2617 |
Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum |
OMIM:312830 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr... |
ORPHA:444072 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Lymphoma, Recurrent aphthous stomatitis |
OMIM:212750 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:613730 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Join... |
OMIM:235510 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Supernumerary tooth, Medulloblas... |
ORPHA:247806 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Laron Syndrome |
|
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia |
ORPHA:633 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Facial capillary hema... |
ORPHA:364577 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... |
OMIM:601701 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy... |
ORPHA:733 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Acute l... |
ORPHA:289 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias |
ORPHA:141333 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia |
OMIM:613680 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Squamous cell carcinoma of the sk... |
ORPHA:79396 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Steatocystoma multiplex, Angular cheilitis |
OMIM:167210 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Enamel hypoplasia, Retrognathia |
OMIM:210720 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1775 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Lymphoma, Cleft palate, Orofacial cleft, Tooth ... |
ORPHA:1896 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m... |
ORPHA:2701 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro... |
ORPHA:2063 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Joint contracture of the hand, Corneal scarring, Atypical scarring of skin |
OMIM:263700 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon... |
ORPHA:1812 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor... |
ORPHA:2323 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia |
ORPHA:2645 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno... |
ORPHA:3353 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
Distal Duplication 18Q |
|
Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth, High palate |
ORPHA:1716 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro... |
OMIM:272430 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate... |
OMIM:614701 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly |
OMIM:619053 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum |
OMIM:614856 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening |
ORPHA:3258 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth |
OMIM:612714 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m... |
ORPHA:85199 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion... |
OMIM:151050 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin... |
OMIM:248370 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... |
ORPHA:85284 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Myelodysplasia, Abnormality of the ... |
ORPHA:221016 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Steatocystoma multiplex, Advanced eruption of teeth, Oral leukopl... |
ORPHA:2309 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Myelodysplasia, Abnormality of the ... |
ORPHA:221008 |
Gorlin Syndrome |
|
Mandibular prognathia, Neoplasm, Carious teeth |
ORPHA:377 |
Cranioectodermal Dysplasia 3 |
|
Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia |
OMIM:614099 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala... |
ORPHA:96169 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Micrognathia |
ORPHA:93346 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... |
OMIM:620107 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... |
ORPHA:1598 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ... |
OMIM:216400 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ... |
ORPHA:293967 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate |
OMIM:272460 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Abnormal dental enamel m... |
ORPHA:666 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia |
ORPHA:1473 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Medulloblastoma, Pre... |
ORPHA:199276 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili... |
OMIM:218330 |
Hepatoerythropoietic Porphyria |
|
Scarring alopecia of scalp, Erythrodontia, Scarring |
ORPHA:95159 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia |
ORPHA:2470 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis |
ORPHA:93324 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth,... |
ORPHA:1786 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari... |
ORPHA:2908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Squamous cell c... |
ORPHA:79277 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Microdontia, Pulp calcification |
OMIM:606895 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Pilomatrixoma, Supernumerary tooth, Talon cusp, Dent... |
ORPHA:353281 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... |
ORPHA:363444 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis |
OMIM:602342 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... |
ORPHA:2092 |
Osteogenesis Imperfecta, Type X |
|
Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia |
OMIM:613848 |
Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth |
ORPHA:157954 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa... |
OMIM:619322 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Microphthalmia, Cardiomegaly |
ORPHA:858 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Calvarial osteosclerosis |
OMIM:244460 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... |
OMIM:609053 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly |
OMIM:619185 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Distal Duplication 5Q |
|
Micrognathia, Carious teeth, Thin vermilion border, Hernia, Narrow mouth, Long philtrum |
ORPHA:96097 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ... |
ORPHA:3378 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma |
OMIM:602501 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Squamous cell carcinoma |
ORPHA:79404 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Abnormal dental enamel morphology |
ORPHA:79430 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Cleft palate, Thin vermi... |
ORPHA:363611 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Focal Dermal Hypoplasia |
|
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u... |
OMIM:305600 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ... |
ORPHA:2658 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst |
OMIM:603194 |
Bloom Syndrome |
|
Lymphoma, Agenesis of maxillary lateral incisor, Squamous cell carcinoma, Malar flattening, Leukemia |
OMIM:210900 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High pa... |
ORPHA:536467 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly |
ORPHA:290 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:610756 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hepatomegaly |
OMIM:618805 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand |
OMIM:309000 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Carious teeth, Oral leukoplakia |
OMIM:224230 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Supernumerary tooth, Ta... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Supernumerary tooth, Ta... |
ORPHA:353277 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Inguinal hernia, Den... |
OMIM:619503 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn... |
OMIM:616268 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Renal cyst |
OMIM:611134 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias |
ORPHA:77298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Carious teeth, Squamous cell carcinoma of the skin, Premature loss of teeth, Oral... |
OMIM:127550 |
Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca... |
OMIM:133540 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hypertrophy |
ORPHA:335 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M... |
ORPHA:818 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Cardiomegaly |
OMIM:618652 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Carious teeth, Reduced subcutaneous adipose tissue |
OMIM:131300 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves... |
OMIM:607323 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hypospadias |
ORPHA:494344 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly |
OMIM:300855 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney |
OMIM:603467 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Tetrasomy 9P |
|
Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Moebius Syndrome |
|
Microphthalmia, Micropenis |
OMIM:157900 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Oligosacchariduria |
ORPHA:163649 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Kindler Syndrome |
|
Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis |
OMIM:173650 |
Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Long philtrum |
OMIM:610682 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis |
OMIM:243310 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Renal insufficiency |
ORPHA:773 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Micro Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia |
OMIM:600901 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Micropenis |
OMIM:615663 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia |
ORPHA:3301 |
Joubert Syndrome 14 |
|
Microphthalmia, Renal cyst |
OMIM:614424 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2328 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Retinal hamartoma, Abnorma... |
ORPHA:744 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia |
OMIM:264480 |
Stromme Syndrome |
|
Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia |
OMIM:243605 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Recurrent urinary tract infections |
OMIM:611961 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micropenis |
OMIM:614222 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pe... |
OMIM:601186 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hyd... |
ORPHA:99776 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... |
ORPHA:2538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C... |
ORPHA:567 |
Joubert Syndrome 2 |
|
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... |
ORPHA:959 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla... |
ORPHA:2556 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hydronephrosis |
ORPHA:35173 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia... |
OMIM:619841 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:899 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization |
ORPHA:47159 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydronephrosis |
OMIM:115470 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia |
OMIM:227645 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Hypospadias |
ORPHA:2505 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis |
OMIM:241410 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis |
ORPHA:2059 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia, M... |
OMIM:227646 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... |
OMIM:251300 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Micropenis, Abnormality of the urinary system |
OMIM:244300 |
Pallister-Killian Syndrome |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt... |
OMIM:601803 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:614225 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Renal dysplasia |
OMIM:618571 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias |
OMIM:619148 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis |
OMIM:212720 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Meckel Syndrome 14 |
|
Microphthalmia, Polycystic kidney dysplasia |
OMIM:619879 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hydronephrosis |
ORPHA:250989 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:284160 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis |
OMIM:206900 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ectopic kidney |
ORPHA:268249 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht... |
ORPHA:508498 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:614230 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:3412 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... |
ORPHA:2166 |
Williams Syndrome |
|
Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope... |
ORPHA:904 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis |
ORPHA:2273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Hydronephrosis |
ORPHA:2839 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:2250 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Cousin Syndrome |
|
Microphthalmia, Hydronephrosis |
OMIM:260660 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Trisomy 18 |
|
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris,... |
ORPHA:564 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micropenis |
OMIM:300895 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia |
OMIM:236670 |
Alström Syndrome |
|
Abnormality of dental color, Dorsocervical fat pad, Gingivitis, Tooth agenesis, Recurrent sinusitis |
ORPHA:64 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Microphthalmia, Hydronephrosis |
OMIM:229850 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Microphthalmia, Hypospadias, Renal cyst |
OMIM:616975 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Micropenis, Chordee, Hypospadias |
OMIM:309801 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the urinary system, Microphthalmia |
ORPHA:2162 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia, Hypospadias |
OMIM:147791 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... |
ORPHA:468631 |
Degcags Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... |
OMIM:619488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Renal hypoplasia |
OMIM:620005 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hypospadias |
OMIM:223370 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... |
ORPHA:141099 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Steinfeld Syndrome |
|
Microphthalmia, Unilateral renal dysplasia |
OMIM:184705 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Renal agenesis, Urethral atresia |
OMIM:273395 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Micropenis, Ectopic kidney |
OMIM:263650 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney |
OMIM:609945 |
Roberts Syndrome |
|
Microphthalmia, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... |
ORPHA:2052 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Monosomy 9Q22.3 |
|
Microphthalmia, Nephroblastoma |
ORPHA:77301 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Monosomy 9P |
|
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:3186 |
Renpenning Syndrome 1 |
|
Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis |
OMIM:309500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Micropenis |
OMIM:617925 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
OMIM:234100 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Hypospadias, Ureterocele |
OMIM:616734 |
Charge Syndrome |
|
Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis |
ORPHA:138 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat... |
OMIM:309800 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Johanson-Blizzard Syndrome |
|
Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen... |
OMIM:243800 |
Yunis-Varon Syndrome |
|
Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten... |
ORPHA:3472 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... |
OMIM:219000 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Charge Syndrome |
|
Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr... |
OMIM:214800 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:613884 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias |
OMIM:300166 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... |
ORPHA:508488 |
Fontaine Progeroid Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Micropenis |
OMIM:612289 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:236680 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Right ventricular hypertrophy |
OMIM:620186 |
Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... |
ORPHA:672 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Renal hypoplasia |
OMIM:607932 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia |
OMIM:113620 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia |
OMIM:613406 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Renal agenesis |
OMIM:256520 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Chordee, Vesicoure... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... |
ORPHA:2152 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia, Microphthalmia |
OMIM:268300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Duplication of ren... |
ORPHA:261552 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Mowat-Wilson Syndrome |
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Microphthalmia, Hypospadias, Abnormality of the kidney |
OMIM:235730 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |