| 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 |
| 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 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| 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, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| 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 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Stimmler Syndrome |
|
Microdontia, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79402 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Ename... |
OMIM:226670 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Recurrent respiratory infections, Enamel hypoplasia |
ORPHA:2643 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
| Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, Recurrent upper respiratory tract infections, Irregularly spaced teeth... |
ORPHA:99329 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Abnormality of dental color |
ORPHA:1006 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border... |
OMIM:615502 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Ectopic kidney, Renal hypoplasia, Hypodontia, Ma... |
OMIM:212780 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo... |
OMIM:613823 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
| Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth |
OMIM:613312 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Cerebral calcification, Abnormal dental enamel morphology |
ORPHA:2238 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
| Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
| Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Stroke, Microdontia, Enamel hypoplas... |
ORPHA:557003 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
| Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... |
OMIM:619719 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Hypoplasia of penis, Recurrent respiratory... |
ORPHA:10 |
| Winchester Syndrome |
|
Corneal opacity, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad... |
OMIM:277950 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T... |
OMIM:619980 |
| Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Atrophic scars, Enamel hypoplasia |
ORPHA:79409 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Urethrovesical occlusion, Atrophic scars, Arthrogryposis multiplex congeni... |
OMIM:226730 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Basal ganglia calcification, Choroid plexus calcification, Low urinary... |
OMIM:612462 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Basal ganglia calcification, Choroid plexus calcification, Low urinary... |
OMIM:103580 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Patent ductus arteriosus, Flexion... |
OMIM:619293 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten... |
OMIM:618874 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
| Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Stage 5 chronic kidney disease, Thin vermilion border, Taurodontia, Smooth p... |
OMIM:614378 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia, Shagree... |
ORPHA:1816 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality o... |
ORPHA:3220 |
| 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 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
| Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... |
OMIM:211800 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Temporomandibular... |
ORPHA:2741 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Patent ductus arteriosus, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Rapp-Hodgkin Syndrome |
|
Hypospadias, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficie... |
OMIM:129400 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Hyperphosphaturia, Horseshoe kidney, Coarctation of aorta |
OMIM:163200 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morpholo... |
ORPHA:2370 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Scarf Syndrome |
|
Inguinal hernia, Micropenis, Perineal hypospadias, Long philtrum, Umbilical hernia, Enamel hypopl... |
ORPHA:3134 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypospadias, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion b... |
OMIM:619184 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Hypoplasia of penis, Recurrent... |
ORPHA:96263 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom... |
ORPHA:3145 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Ohdo Syndrome |
|
Proteinuria, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narro... |
OMIM:249620 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Median cleft palate, Large for gestational age |
ORPHA:2432 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Co... |
OMIM:166300 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia, Dental malocclusion, Elbow ... |
OMIM:210600 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria |
ORPHA:839 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Recurrent respiratory infe... |
ORPHA:96264 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Hypospadias |
OMIM:101805 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Micropenis |
OMIM:619718 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Abnormal primary molar... |
ORPHA:1830 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef... |
ORPHA:2756 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Elevated urine pyrophosphate, Phosphoethanolaminuria, Premature loss of primary teeth |
OMIM:241510 |
| Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Aortic aneurysm |
OMIM:218340 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
ORPHA:2409 |
| Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
|
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... |
OMIM:114100 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Enamel hypoplasia, Ret... |
OMIM:614576 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
| Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Micrognathia, Patent ductus arteriosus, Abnormal pulmonary inte... |
OMIM:618458 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula... |
ORPHA:2728 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Abnormal dental ena... |
ORPHA:1782 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... |
ORPHA:289601 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Narrow palate, Micropenis, Short upper lip, Thick vermilion border, Short ... |
ORPHA:364028 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hematuria, Ureterocele, ... |
ORPHA:79403 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Cleft palate, Reduced bone mineral d... |
ORPHA:577 |
| Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Recurrent pneumonia, Conical tooth |
OMIM:617475 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Cerebral calcification, Hydroureter, Micrognathia, Protruding... |
OMIM:259775 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Basal ganglia calci... |
OMIM:164200 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kid... |
OMIM:184260 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
| Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr... |
ORPHA:444072 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
| Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Pa... |
ORPHA:2863 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent upper respirator... |
OMIM:253000 |
| Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
OMIM:264700 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent upper respirator... |
OMIM:253010 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Foot joint contracture, Scarring, Delayed eruption of... |
ORPHA:90321 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Corneal scarring, Premature loss o... |
OMIM:610965 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Scarf Syndrome |
|
Inguinal hernia, Micropenis, Perineal hypospadias, Long philtrum, Umbilical hernia, Enamel hypopl... |
OMIM:312830 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Conical incisor, Oligodontia, Vesicoureteral reflux, Pleural lymphangiectasia, Th... |
OMIM:235510 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue... |
OMIM:258860 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Macrodontia of permanen... |
ORPHA:466722 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia, Ectopic calcification, Low urinary cyclic AMP respo... |
ORPHA:94089 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| 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 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Calciphylaxis |
|
Arterial calcification, Stage 5 chronic kidney disease, Cellulitis |
ORPHA:280062 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Narrow mouth, Fibular hypoplasia, High palate, T... |
OMIM:201170 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
| Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| 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 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrolithiasis,... |
OMIM:248190 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Bow... |
ORPHA:61 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Enamel hypoplasia |
OMIM:240300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Enamel hypoplasia, Congenital pulmonary airway mal... |
OMIM:243150 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, B... |
ORPHA:90324 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Dilatation of the cerebral artery, Microdontia, Enamel hypoplasia, Retrognathia, Moy... |
OMIM:210720 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality... |
ORPHA:289 |
| Dysostosis, Stanescu Type |
|
Cerebral calcification, Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplas... |
ORPHA:1798 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dilation of Virchow-Robin spaces, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized ... |
ORPHA:73223 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
ORPHA:289157 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Everted lower lip... |
OMIM:619736 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Cheilitis, Hematuria, Abnorm... |
ORPHA:1334 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
| Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
| Cranioectodermal Dysplasia 3 |
|
Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, Everted lower lip vermilion, W... |
OMIM:614099 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Hematuria |
ORPHA:375 |
| Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious t... |
OMIM:311200 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
| Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... |
ORPHA:79106 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Bowed humerus, Sclerocornea, Microg... |
OMIM:609465 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... |
ORPHA:2916 |
| Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth |
OMIM:146300 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth, Periodontitis, Prematu... |
OMIM:619269 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
| Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2323 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Arterial calcification, Coronary artery calcification |
OMIM:614473 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... |
OMIM:613680 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia... |
OMIM:601559 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Neurogenic bladder, Median cleft lip, Cerebral calcification, Abnormal den... |
ORPHA:2710 |
| Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Cerebral calcification, Recurrent aphthous stomatitis |
OMIM:212750 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ... |
ORPHA:2557 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Pneumonia, Hypocalcification of dental enamel |
ORPHA:169090 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Fibular hypoplasia, Lateral humeral... |
OMIM:164900 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... |
ORPHA:251004 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
| Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy... |
OMIM:617052 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Aortic aneurysm |
OMIM:166200 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Tooth agenesis, Microdontia |
ORPHA:633 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Coronary artery dissection, Proteinuria, Contracture of the distal interphal... |
ORPHA:2614 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
| Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Carious teeth, Vesicoureteral reflux, Cleft palat... |
ORPHA:1896 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Ab... |
ORPHA:1452 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal... |
OMIM:300896 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... |
ORPHA:1110 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Cleft palate, Hypoplasia... |
ORPHA:1812 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flatten... |
ORPHA:3258 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Cerebral calcification, Gingival fibromatosis, Renal cyst, Shagreen patch, Re... |
OMIM:191100 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia |
OMIM:612079 |
| 3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Abnormal cerebral vasc... |
ORPHA:2616 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
| Osteogenesis Imperfecta, Type Xiii |
|
Enuresis nocturna, Thin vermilion border, Long philtrum, Umbilical hernia, Dentinogenesis imperfecta |
OMIM:614856 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... |
ORPHA:365 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prominent scalp veins, Inguinal hernia, Hypospadias, Micrognathia, Abnorma... |
OMIM:151050 |
| Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi... |
OMIM:619777 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... |
OMIM:601701 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Cerebral calcification, Basal ganglia calcification, Choroid plexus ca... |
ORPHA:79444 |
| Chand Syndrome |
|
Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph... |
ORPHA:1401 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Dyskeratosis Congenita |
|
Recurrent respiratory infections, Cerebral calcification, Abnormality of the dentition, Hypoplasi... |
ORPHA:1775 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:439822 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Small ha... |
OMIM:619339 |
| Cockayne Syndrome |
|
Cerebral calcification, Urinary incontinence, Basal ganglia calcification, Congenital contracture... |
ORPHA:191 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor... |
ORPHA:2063 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
| Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio... |
ORPHA:96169 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
| Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Red urine, Corneal scarring, Atypical scarring of skin, Joint contracture of the h... |
OMIM:263700 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris... |
ORPHA:1473 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Precocious costochondral ossification, Increased urinary disaccharide ex... |
OMIM:271630 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Renal cyst, Cleft palate, Failure of eruption of permanent teeth, Enamel hypoplasia |
OMIM:272460 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Enamel hypomineralization |
OMIM:307800 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Long penis, Coxa vara, Abno... |
ORPHA:1988 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture |
OMIM:617105 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Micrognathia, Cleft p... |
ORPHA:85199 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micrognathia, Micropenis, Contracture of the proximal interphalangeal joint of the 5th finger, Hy... |
ORPHA:293967 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite... |
OMIM:272300 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Renal insufficiency,... |
OMIM:216400 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, High palate, Persistence of primary teeth |
OMIM:147060 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Hypospadias, Small ... |
OMIM:607143 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
| Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Inguinal hernia, Renal magnesium wasting, High, narrow palate, ... |
OMIM:218330 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Dentinogenesis imperfecta |
OMIM:616507 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Penoscrotal hypospadias, Ureteral stenosis, Unilateral cleft palate, Abnor... |
ORPHA:1299 |
| Variant Abeta2M Amyloidosis |
|
Abnormal vascular morphology, Chronic kidney disease, Abnormality of the tongue, Abnormal salivar... |
ORPHA:314652 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
| Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
| 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 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
| W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Short... |
OMIM:618961 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Proteinuria, Micromelia, Ulnar bowing, Hematuria, Aplasia/Hypopla... |
ORPHA:1765 |
| Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Nephropathy, Flexion contracture, Osteoporosis, Pedal edema, Um... |
ORPHA:87876 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Erosion of oral mucosa, Multicystic kidney dysplasia, Hydroureter, Abnormal o... |
ORPHA:79404 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypospadias, Cleft lip, Dental malocclusion, Cleft p... |
OMIM:603457 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity |
ORPHA:1532 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Micro... |
OMIM:201000 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus, Recurrent... |
OMIM:619769 |
| Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cerebral calcification, Adrenal calcification, Abnormal r... |
ORPHA:51608 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, Long penis, High palate |
OMIM:262190 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Oligosacchariduria, Macroglossia, Camptodactyly, High... |
OMIM:616354 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the hume... |
ORPHA:1794 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Pa... |
ORPHA:2712 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Foot joint contracture, Glomerul... |
ORPHA:79408 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
| Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Micrognathia, Recurrent pneumonia, Nephrolithiasis, Malar flattening, Dentinogen... |
OMIM:613848 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
| Scheie Syndrome |
|
Mandibular prognathia, Pes cavus, Corneal opacity, Genu valgum |
OMIM:607016 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, High palate, Micropenis, Retrognathia, Penile hy... |
OMIM:300219 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin... |
OMIM:248370 |
| Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b... |
ORPHA:46627 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Micropenis, Delayed eruption of permanent teeth, Camptodactyly |
OMIM:113000 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:861 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... |
ORPHA:96125 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Cerebral calcification, Basal ganglia calcification, Choroid plexus ca... |
ORPHA:79443 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Abnormal dental enamel m... |
ORPHA:666 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Crumpled long bones, Corneal opacity, Metaphyseal widening, Osteoporosis, Abnormal fe... |
ORPHA:2788 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Vasculitis in the skin, Recurrent lower respiratory trac... |
OMIM:620321 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Flexion contracture, Developmental cataract, Micropenis |
OMIM:618815 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
| Hepatoerythropoietic Porphyria |
|
Erythrodontia, Scarring, Scarring alopecia of scalp, Red-brown urine, Red urine, Purple urine |
ORPHA:95159 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Enthesitis, Renal phosphate wasting, Hypocalciuria, Cellulitis, Tooth abscess, A... |
ORPHA:89936 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Tapered finger, Patchy palmoplantar hyperkeratosis, Weight loss, Brach... |
ORPHA:317 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis |
OMIM:616901 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Camptodactyly of finger, Cigarette-paper ... |
OMIM:612350 |
| Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia |
ORPHA:2645 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel... |
ORPHA:2750 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Talipes, Median cleft lip, Aplasia/Hypoplasia... |
ORPHA:1234 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Craniosynostosis, Micrognathia, Unilateral renal agenesis, Developmental glaucom... |
ORPHA:1064 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormality of the dentition, Carious teeth, Thin lower l... |
ORPHA:363444 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Basal ganglia calcification, Calcification of the small brain vessels, Urinary incontinence, Dens... |
OMIM:213600 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Recurrent respiratory infections, Dental crowding, Hypospadias, Pneumonia, Carious t... |
ORPHA:353281 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Myopic astigmatism, D... |
OMIM:152950 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Hypoplasi... |
OMIM:182250 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Talipes equinovalgus, Developmental catarac... |
OMIM:617183 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphy... |
ORPHA:85167 |
| Gaucher Disease, Type Iii |
|
Vascular calcification |
OMIM:231000 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Protruding ton... |
OMIM:610253 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
| Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Nephrolith... |
ORPHA:56 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodac... |
ORPHA:2908 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth |
OMIM:612714 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Phimosis, Patent ductus ... |
ORPHA:363611 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... |
ORPHA:284160 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... |
OMIM:614170 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Micrognathia, Keratitis, Wide mouth, Oligodontia, Conjunctivitis, Long philtrum,... |
OMIM:602562 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis |
ORPHA:922 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp... |
ORPHA:570 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis imperfecta, Long philtrum, H... |
OMIM:610682 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Bicarbonaturia, Proximal renal t... |
OMIM:309000 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst |
OMIM:615560 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Hurler Syndrome |
|
Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hypoplasia of the femoral head, H... |
OMIM:607014 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Aortic root an... |
OMIM:145420 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft lip, Preaxial polyda... |
OMIM:617925 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Corneal opacity, Rocker bottom foot, Craniosynostosis, Coxa valga, Hypospadi... |
OMIM:301056 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Recurrent respiratory infectio... |
ORPHA:2484 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Micrognathia, Car... |
ORPHA:536467 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
| Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Umbilical hernia |
OMIM:617237 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Shox-Related Short Stature |
|
Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, High palate, ... |
ORPHA:314795 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er... |
ORPHA:2348 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Large for gestational age, Hypop... |
ORPHA:96334 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Mitral valve calcification, Bronchitis, Respiratory tract infection, Ple... |
ORPHA:60025 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:600920 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, ... |
ORPHA:2095 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Cerebral calcification, Lipodystrophy, Increased adipose tiss... |
ORPHA:199276 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Abnormality of the dentitio... |
ORPHA:251038 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Abnormal dental enamel morphology, Pulmonary fibrosis |
ORPHA:79430 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Penoscrotal hypospadi... |
OMIM:211380 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Delayed eruption of primary tee... |
OMIM:619322 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Microcornea, Shor... |
OMIM:601499 |
| Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
| Congenital Erythropoietic Porphyria |
|
Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Red-brown urine... |
ORPHA:79277 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Congenital diaphragmatic... |
ORPHA:1647 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... |
OMIM:620099 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial fo... |
OMIM:603671 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Cerebral calcification, Micrognathia, High, narrow palate, Submucous c... |
ORPHA:2780 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Positional foot deformity, Hip dy... |
ORPHA:496790 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal penis morphology, Inguinal hernia, Femoral hernia, Abnormal denta... |
ORPHA:2658 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
| Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
| Chime Syndrome |
|
Corneal opacity, Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Sup... |
ORPHA:3474 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Flexion contracture, Long philtrum |
ORPHA:263463 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing... |
OMIM:608940 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Micrognath... |
OMIM:190350 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Short lingual frenul... |
ORPHA:79500 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co... |
ORPHA:261494 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Micrognathia, Knee flex... |
ORPHA:85201 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Corneal opacity, Unilateral renal agenesis, Hip dislocation, Developmental cataract, ... |
OMIM:616603 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... |
ORPHA:536471 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Failure to thrive, Microgna... |
ORPHA:912 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Functional abnormality of the bladder, Recurrent upper re... |
ORPHA:391487 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod... |
ORPHA:2315 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral ... |
ORPHA:198 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Mic... |
OMIM:263520 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Ureteral duplication, Congenital diaphra... |
OMIM:305600 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Carious teeth, Flexion contracture, Oliguria, Pulmonary fibrosis |
ORPHA:220393 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrow... |
OMIM:221800 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Tetralogy of Fallot, Wide mout... |
ORPHA:96092 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Ascending aorta hypoplasia, Deep philtrum, ... |
OMIM:619503 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Cer... |
OMIM:133540 |
| Wagro Syndrome |
|
Mandibular prognathia, Cataract, Proteinuria, Corneal opacity, Dental crowding, Micrognathia, Obe... |
OMIM:612469 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b... |
ORPHA:90652 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Basal ganglia calcification, Cerebral calcification, Dental malocclusion, Distal renal tubular ac... |
OMIM:259730 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Hypospadias, Supernumerary too... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Hypospadias, Supernumerary too... |
ORPHA:353277 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopi... |
OMIM:252600 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Vertebrobasilar dolichoectasia, Nephrolithiasi... |
ORPHA:521445 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Pes planus, Micrognathia, Keratitis, Tapered finger, Narrow mouth, Carious teeth, Elbow flexion c... |
OMIM:272430 |
| Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcificati... |
OMIM:208060 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Micrognathia, Heparan sulfate excretio... |
OMIM:607015 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Orofacial cleft, Finger clinodactyly, Micropenis, Ab... |
ORPHA:1692 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the dentition, Calcinosi... |
ORPHA:416 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
| Caffey Disease |
|
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... |
OMIM:114000 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna... |
OMIM:619148 |
| Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Arterial tortuosity, High, narrow palate, Emphysema, Pneumothorax, Ascending tub... |
OMIM:614816 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... |
ORPHA:139471 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Thick lower lip vermilion, Genu valgum, Macroglossia, Mucopolysa... |
ORPHA:583 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Camptodactyly of finger, Hypo... |
ORPHA:568 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobation, Advan... |
ORPHA:818 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Cataract, Corneal opacity |
ORPHA:290 |
| De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy,... |
ORPHA:2962 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Increased urinary O-... |
ORPHA:812 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infecti... |
OMIM:616268 |
| Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Tented upper lip vermilion, Corneal opacity, Hypospadi... |
ORPHA:2059 |
| Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Corneal opacity, Metatarsus adductus, Epiphyseal stippling, Mucopolysacchariduri... |
ORPHA:584 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Interphalangeal joint contractu... |
OMIM:305620 |
| Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Median cleft lip and palate, Dental crowding, Abnormal dent... |
ORPHA:3310 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Micrognathia, ... |
OMIM:247200 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Gingival overgr... |
ORPHA:354 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Mucolipidosis Type Iv |
|
Genu recurvatum, Corneal opacity, Palmoplantar keratoderma, Everted lower lip vermilion, Microdontia |
ORPHA:578 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Dental crowdin... |
OMIM:618371 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Narr... |
OMIM:612582 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Glandular hypospadias, Short femur, Talipes equinovarus |
OMIM:620306 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Posterior... |
OMIM:228520 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Morga... |
OMIM:613177 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Tented upper lip vermilion, Camptodactyly of finger |
ORPHA:896 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Hypoplasia of the maxilla, Multiple lipomas, Clino... |
ORPHA:2399 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Vesicouret... |
ORPHA:567 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental morphology, Abnormal... |
ORPHA:2136 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Patellar aplasia, Vesicoureteral reflux, ... |
ORPHA:96061 |
| Cystinosis |
|
Renal insufficiency, Corneal opacity, Proteinuria, Rickets, Renal tubular dysfunction, Aminoacidu... |
ORPHA:213 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:828 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Short finger, Tapered finger |
ORPHA:1867 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th... |
ORPHA:3472 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Atelectasis, Pa... |
OMIM:269860 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis |
ORPHA:281090 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Opacification ... |
OMIM:215250 |
| Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Micrognathia, Fibula... |
OMIM:164745 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Metatarsus adductus, Hypoplasia of the odontoid process, Heparan sulfate excreti... |
OMIM:253220 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Carious teeth, Oral leukoplakia, Pulmonary fibrosis |
OMIM:224230 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Cataract, Corneal opacity, Oligosacchariduria, Macroglossia |
ORPHA:309288 |
| Fucosidosis |
|
Lipoatrophy, Corneal opacity, Abnormality of the dentition, Mucopolysacchariduria, Failure to thrive |
ORPHA:349 |
| Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Sinusitis, Corneal opacity, Split hand, Thick lower lip vermilion, Gingival over... |
ORPHA:579 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Hernia |
ORPHA:93476 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Cataract, Corneal opacity, Arachnodactyly, Ureteral stenosis, Abnormal thumb mor... |
ORPHA:2719 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Ureteral duplication, Short lingual frenulum, Bilateral cleft lip, Exag... |
OMIM:261540 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Inguinal hernia, Corneal opacity, Carious teeth,... |
OMIM:253200 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Accelerated at... |
ORPHA:280365 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Inguinal hernia, Congenital hip dislocation, Corneal opacity, Abnormal cornea morphol... |
ORPHA:357058 |
| Congenital Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Developmental... |
ORPHA:93400 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Aortic arch aneurysm, Patent ductus arteriosus,... |
OMIM:135500 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of erupt... |
ORPHA:2250 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Cleft upper lip, Preaxial polydactyly, Horseshoe kidney, Micropenis, Cleft palat... |
OMIM:248340 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Submucous cleft hard palate, Cleft palate, Microc... |
ORPHA:899 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Clef... |
OMIM:614230 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentiti... |
ORPHA:158668 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Cataract, Corneal opacity, Craniosynostosis, Cranial hyperosto... |
ORPHA:309282 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral valve calcification, Calcification of the aorta |
OMIM:231005 |
| Aicardi-Goutières Syndrome |
|
Cerebral calcification, Multiple joint contractures, Lipoatrophy, Calcification of the aorta, Aor... |
ORPHA:51 |
| Kindler Syndrome |
|
Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Periodontitis, Oral leukoplakia |
OMIM:173650 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ect... |
OMIM:615877 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Cataract, Corneal opacity, Mucopolysacchariduria, Broad thumb, Smooth philtrum |
ORPHA:585 |
| Bloom Syndrome |
|
Malar flattening, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesis of maxil... |
OMIM:210900 |
| Lcat Deficiency |
|
Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Acute kidney i... |
ORPHA:650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Micromelia, Micrognathia, Rocker b... |
ORPHA:99776 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Micrognathia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... |
OMIM:617913 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Pes cavus, Opacification of the corneal stroma |
OMIM:230650 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:260660 |
| Olmsted Syndrome 1 |
|
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Larsen Syndrome |
|
Short metacarpal, Corneal opacity, Spatulate thumbs, Cleft upper lip, Talipes equinovalgus, Acces... |
OMIM:150250 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Umbilical hernia |
ORPHA:93399 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du... |
ORPHA:2036 |
| Scheie Syndrome |
|
Corneal opacity, Wide mouth, Mucopolysacchariduria, Thick vermilion border, Everted lower lip ver... |
ORPHA:93474 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
| Farber Disease |
|
Abnormality of the knee, Corneal opacity, Abnormal foot morphology, Short toe, Flexion contractur... |
ORPHA:333 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Cleft palate, A... |
OMIM:214110 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... |
ORPHA:1806 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Chronic sinusitis, Recurrent bron... |
OMIM:244400 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,... |
OMIM:618150 |
| Stromme Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft pal... |
OMIM:243605 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Coarctation of aorta, Pulmonary hypoplasia, Long ph... |
ORPHA:50945 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A... |
ORPHA:289176 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent u... |
ORPHA:51636 |
| Mucolipidosis Iii Gamma |
|
Flat capital femoral epiphysis, Flared iliac wing, Opacification of the corneal stroma, Genu valgum |
OMIM:252605 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Neurogenic bladder, Mandibular prognathia, Corneal opacity, Tented u... |
ORPHA:488632 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Renal insufficiency, Cataract, Cleft lip, High palate, Opacification of the co... |
OMIM:251290 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Rodrigues Blindness |
|
Microcornea, Tooth malposition, Sclerocornea |
OMIM:268320 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Basal ganglia calcification, Retinal calcification, ... |
ORPHA:93325 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Progressive alveolar ridge hypertro... |
OMIM:252500 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2556 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
| Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
| Lathosterolosis |
|
Hypoplasia of penis, Cataract, Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly,... |
ORPHA:46059 |
| Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
| Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal cerebral vascular morphology, Micrognathia, Nephrocalcinosis, Micro... |
ORPHA:904 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Proteinuria, Small for gestational age, Stage 5 chronic kidney d... |
OMIM:242900 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, Ev... |
ORPHA:1519 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Corneal opacity, Hypospadias, Ankle flexion contracture, Tapered finger, Unila... |
ORPHA:464311 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Lipoma, Limbal dermoid, Pelvic kidney, Multiple central ner... |
OMIM:613001 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Midline central nervous system lipomas, Patellar hypoplasia, Wide mouth, Talipe... |
ORPHA:1827 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Crossed fused renal ectopia, Hypospadias, Aplasi... |
OMIM:619841 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o... |
OMIM:309350 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Abnormal pulm... |
ORPHA:2072 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Failure to thrive, Multiple joint contractures, Corneal opacity, Arachnodactyly, T... |
ORPHA:464306 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Micrognathia, Downturned ... |
ORPHA:280 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormal preputium m... |
ORPHA:2907 |
| Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Wid... |
OMIM:619297 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, Aminoaciduria, High palate, Ulnar deviation of the hand or of ... |
OMIM:214100 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Hypop... |
ORPHA:920 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Ectopic kidney, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac w... |
OMIM:263650 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ... |
ORPHA:2879 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial ha... |
OMIM:236680 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Abnormality of the dentiti... |
ORPHA:581 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Short femoral neck, ... |
OMIM:313400 |
| Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Narrow pelvis bone, Abnormal diaphysis morphology, Muco... |
ORPHA:93473 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Art... |
OMIM:614437 |
| Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Thin vermilion border, High palate, Opacification of the corneal stroma, Malar ... |
OMIM:601853 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Hydroureter, Camptodactyly of fin... |
ORPHA:2273 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Abnormal subcutaneous fat tissue distribution, ... |
ORPHA:744 |
| Tyrosinemia Type 2 |
|
Malar flattening, Palmoplantar keratoderma, Corneal opacity |
ORPHA:28378 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Microcornea, Widely spaced teeth, Clinodactyly of... |
ORPHA:709 |
| Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Wide penis, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum... |
ORPHA:3455 |
| Multiple Sulfatase Deficiency |
|
Broad hallux, Corneal opacity, Hypoplastic vertebral bodies, Mucopolysacchariduria, Broad thumb |
OMIM:272200 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Small for gestational ag... |
OMIM:251300 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Increased connective tissue, Atele... |
ORPHA:258 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Reduced bone mineral density, High palate,... |
ORPHA:740 |
| Familial Dysautonomia |
|
Renal insufficiency, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Osteolysis, Het... |
ORPHA:1764 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Unilateral renal agenesis, Abnormal... |
ORPHA:141099 |
| Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario... |
OMIM:131300 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Corneal opacity, Bone cyst, Osteolysis, Multiple lipoma... |
ORPHA:2396 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Autoamputation of digits, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification ... |
OMIM:256800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, Buphthalmos, Congenital c... |
OMIM:236670 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Chronic kidney disease, Early ossificat... |
OMIM:208500 |
| Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Heparan sulfate excretion in urine, Osteoporosis, Small hand, Short foot, 3-Meth... |
OMIM:615273 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Sclerocornea, Micrognathia, Short metatarsal, Palmoplantar hyperkerat... |
OMIM:216340 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology... |
OMIM:620233 |
| Meckel Syndrome |
|
Ureteral duplication, Bowing of the long bones, Cataract, Multicystic kidney dysplasia, Talipes, ... |
ORPHA:564 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Limb Body Wall Complex |
|
Ventral hernia, Duplication of hand bones, Corneal opacity, Broad hallux, Congenital diaphragmati... |
ORPHA:2369 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Periodontitis, Emphysema, Premature loss of teeth, Repeated pn... |
OMIM:130050 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Corneal opacity, Peters anomaly |
OMIM:120200 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti... |
ORPHA:402075 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Trache... |
ORPHA:3348 |
| Fabry Disease |
|
Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P... |
ORPHA:324 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cataract, Small for gestational age, Sclerocornea, Retrognathia, Thin vermilion borde... |
OMIM:619869 |
| Lathosterolosis |
|
Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Gingival overgr... |
OMIM:607330 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Ectopic calcification, Bronch... |
ORPHA:2357 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Micrognathia, Osteolysis, Cleft palate, ... |
ORPHA:1052 |
| Alström Syndrome |
|
Abnormality of dental color, Dorsocervical fat pad, Detrusor sphincter dyssynergia, Dysuria, Glom... |
ORPHA:64 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hypospadias, Small for gestational age, Micrognathia, Brushfield spots, Metatarsus addu... |
OMIM:614866 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Rickets, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Pes planus, Inguinal hernia, Corneal opacity, Genu recurvatum, Unilateral renal agene... |
ORPHA:90348 |
| Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Proximal placement of thumb, Large for gestatio... |
OMIM:229850 |
| Digeorge Syndrome |
|
Inguinal hernia, Renal insufficiency, Femoral hernia, Unilateral renal agenesis, Micrognathia, Hi... |
OMIM:188400 |
| Wilson Disease |
|
Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal dental morphology, Heparan su... |
ORPHA:217085 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Hypospadias, Micrognathia, Tented philtrum, Renal cyst, Bupht... |
ORPHA:495875 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal dental morphology, Heparan su... |
ORPHA:217093 |
| Williams-Beuren Syndrome |
|
Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kid... |
OMIM:194050 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Urethrovaginal fistula, Agenesis of permanent teeth, Downturned corners of mouth, Lo... |
OMIM:243800 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Corneal opacity, Hypospadias, Aplasia/Hypoplasia of the sternum,... |
OMIM:219000 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Failure to thrive, Sclerocornea |
OMIM:300952 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Congenital diaphragmatic hernia, Sclerocornea, Cleft palate, Chordee, Pete... |
OMIM:309801 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Dental crowding, Hypospadias, Cleft upper lip, High, narrow palate, Renal hypoplasia... |
OMIM:309800 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Sclerocornea, Micrognathia, Renal hypoplasi... |
OMIM:607932 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Renal cyst, Cleft palate, Megalocornea, Failure to thrive, Congenital aphakia |
ORPHA:137675 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrowth, Abnorma... |
ORPHA:580 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... |
OMIM:209010 |
| Relapsing Polychondritis |
|
Renal insufficiency, Proteinuria, Atelectasis, Large vessel vasculitis, Hematuria, Recurrent apht... |
ORPHA:728 |
| Charge Syndrome |
|
Micrognathia, Hand monodactyly, Micropenis, Iris coloboma, Hypoplasia of the ulna, Cleft upper li... |
OMIM:214800 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Hematuria, Furrowed tongue, Opacificati... |
OMIM:158310 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Osteomalacia, Osteoporosis, Nephrolithiasis, Pedal edema, Hyperca... |
OMIM:277900 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Corneal opacity, Proteinuria, Osteolysis, Hematuria, ... |
ORPHA:355 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Renal insufficiency, Atelectasis, Pneumothorax, Retinal arterial occlusion,... |
ORPHA:73263 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Recurrent respiratory infections, Atelectasis, Emphysema, Pneumothorax, H... |
ORPHA:538 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Genu valgum, Multiple lipomas, Slender long bone, Abnormal hip bone mo... |
ORPHA:636 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... |
ORPHA:649 |
| Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Lower limb asymmetry, Microcornea, Astigmatism, Opacification o... |
OMIM:600268 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Long upper lip, Narrow ... |
ORPHA:3404 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Renal tubular dysfunction, Glycosuria, Abnormal cornea morphology, Re... |
ORPHA:411629 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Cataract, Hypospadias, Micrognathia, Small hand, Obesity, Fibular hypop... |
ORPHA:444077 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Abnormality of the dentition, K... |
ORPHA:910 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Hypospadias, Sclerocornea, Missing ribs, Micropenis, Vertebral hypoplasia |
OMIM:206900 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
| Grange Syndrome |
|
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| 17Q11 Microdeletion Syndrome |
|
Abnormal internal carotid artery morphology, Abnormal lung morphology, Renovascular hypertension,... |
ORPHA:97685 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Lujo Hemorrhagic Fever |
|
Atelectasis, Renal insufficiency, Microscopic hematuria, Oliguria |
ORPHA:319213 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Renal hypoplasia, Stage 5 chronic kidney disease, Coarctati... |
OMIM:118450 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Opacification of t... |
ORPHA:79280 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Cerebral hemorrhage, Elevated urinary norepinephrine level |
OMIM:171300 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesi... |
OMIM:308205 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Micrognathia, Buphthalmos, Everted lower lip vermilion, Opacification of the corneal st... |
OMIM:253280 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Cellulitis |
OMIM:306400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Multicystic kidney dysplasia, Opacification of the corneal stroma, Micropenis, ... |
OMIM:615287 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis |
OMIM:618278 |
| Xq21 Microdeletion Syndrome |
|
Renal artery stenosis |
ORPHA:1435 |
| Neurofibromatosis, Type I |
|
Renal artery stenosis |
OMIM:162200 |
