| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Tooth Agenesis, Selective, 9 |
|
Selective tooth agenesis, Microdontia, Taurodontia |
OMIM:617275 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
| Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia |
OMIM:190320 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79406 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Amelogenesis Imperfecta, Type If |
|
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters |
ORPHA:79405 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... |
ORPHA:49042 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Stimmler Syndrome |
|
Abnormal dental enamel morphology, Aminoaciduria, Microdontia |
ORPHA:3199 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits, Scarring alopecia of scalp |
OMIM:619787 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Carious teeth, Recurrent respiratory infections, Thick vermilion border |
ORPHA:363523 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Tricho-Dento-Osseous Syndrome |
|
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... |
ORPHA:3352 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp |
ORPHA:79402 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
| Dentinogenesis Imperfecta 1 |
|
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening |
ORPHA:139474 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture |
OMIM:203550 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Carious teeth, Atrophic scars |
OMIM:226700 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Proteinuria... |
OMIM:618349 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Enamel hypoplasia, Carious teeth, Increased connective tissue, Urethr... |
OMIM:226670 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
| Localized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... |
ORPHA:251393 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Recurrent respiratory infections |
ORPHA:2643 |
| Hall-Riggs Syndrome |
|
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... |
OMIM:234250 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Recurrent up... |
ORPHA:99329 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Recurrent respiratory infections |
ORPHA:1006 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Vascular calcification, Enamel hypoplasia, Nephro... |
OMIM:211900 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... |
ORPHA:2325 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... |
OMIM:618363 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... |
ORPHA:1193 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... |
ORPHA:199306 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Coarctation of aorta, Cleft palate, Pat... |
OMIM:615502 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... |
ORPHA:1515 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Enamel hypoplasia, Micrognathia, Renal hypoplasia, Malar flattening, Hypodontia, ... |
OMIM:212780 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:2027 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:231178 |
| Trichodental Dysplasia |
|
Hypodontia, Odontodysplasia, Conical tooth |
OMIM:601453 |
| Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2222 |
| Jalili Syndrome |
|
Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis |
OMIM:217080 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... |
ORPHA:2972 |
| Seckel Syndrome 5 |
|
Retrognathia, Hypospadias, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia,... |
OMIM:613823 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... |
ORPHA:2919 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Winchester Syndrome |
|
Carpal osteolysis, Gingival overgrowth, Corneal opacity, Broad metacarpals, Generalized osteoporo... |
OMIM:277950 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... |
OMIM:272440 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Cleft Palate, Isolated |
|
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate |
OMIM:119540 |
| Oculoskeletodental Syndrome |
|
Retrognathia, Oligodontia, Stroke, Abnormality of the dentition, Microdontia, Enamel hypoplasia, ... |
ORPHA:557003 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth, Medullary nephrocalcinosis, Hyperphosphaturia |
OMIM:613312 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Cerebral calcification, Nephropathy, Delayed eruption of teeth |
ORPHA:2238 |
| Mulibrey Nanism |
|
Recurrent lower respiratory tract infections, Absent frontal sinuses, Dental crowding, Hypoplasti... |
OMIM:253250 |
| Liang-Wang Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... |
OMIM:618729 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| 48,Xxyy Syndrome |
|
Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental... |
ORPHA:10 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, Thin upper lip vermilion, ... |
OMIM:619719 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp |
OMIM:612843 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... |
OMIM:601216 |
| Braddock-Carey Syndrome 1 |
|
Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin sequence, Cleft palat... |
OMIM:619980 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Taurodontia |
OMIM:618205 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, ... |
OMIM:226730 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Short philtrum, Foot joint contracture, Incisor macrodontia, Congenital fing... |
ORPHA:166108 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... |
OMIM:613684 |
| Tooth Agenesis, Selective, 3 |
|
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Ramon Syndrome |
|
Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:3019 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... |
OMIM:300602 |
| Nance-Horan Syndrome |
|
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar |
OMIM:302350 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... |
ORPHA:1972 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... |
ORPHA:69087 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Hemolytic-uremic syndrome, Malar flattening |
OMIM:614727 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Pseudohypoparathyroidism, Type Ic |
|
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Enamel hypoplas... |
OMIM:612462 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H... |
OMIM:249700 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita |
OMIM:217150 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth |
OMIM:615905 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:2026 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
| Amelogenesis Imperfecta, Type Ig |
|
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, D... |
OMIM:204690 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... |
ORPHA:2025 |
| Pseudohypoparathyroidism, Type Ia |
|
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Enamel hypoplas... |
OMIM:103580 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Recurrent pneumonia, Smooth philtrum, Stage 5 chronic kidney disease, Taur... |
OMIM:614378 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Cockayne Syndrome Type 2 |
|
Scarring, Hypoplasia of the primary teeth, Subcortical white matter calcifications, Mandibular pr... |
ORPHA:90322 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... |
ORPHA:2741 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Enamel hypoplasia, Carious teeth, Widely spaced teeth |
OMIM:620193 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Widely spaced teeth, Hypospadias, Short philtrum, Recurrent bronchitis, Exaggerated cupid's bow, ... |
OMIM:619293 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... |
ORPHA:2228 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypo... |
OMIM:618874 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Carious teeth, Multicystic kidney dysplasia, Abnormality of the denti... |
ORPHA:3270 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of primary teeth... |
OMIM:618727 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Abnormali... |
ORPHA:2501 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Cerebral calcification, Abnormality of the dentition, Camptoda... |
ORPHA:3220 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp |
ORPHA:59303 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Shagree... |
ORPHA:1816 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Calcification Of Joints And Arteries |
|
Iliac arterial calcification, Femoral arterial calcification, Intervertebral disk calcification, ... |
OMIM:211800 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia |
OMIM:610706 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth |
OMIM:125350 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Abnormal dental morphology, Hyperphosphaturia, Coarctation of aorta,... |
OMIM:163200 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Thin vermilion border, Reduced bone mineral density, Clinodactyly... |
ORPHA:2370 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum |
ORPHA:3010 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Odontochondrodysplasia |
|
Retrognathia, Patent ductus arteriosus, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth |
OMIM:620114 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Aredyld Syndrome |
|
Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho... |
ORPHA:1133 |
| Rapp-Hodgkin Syndrome |
|
Hypospadias, Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, ... |
OMIM:129400 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum... |
OMIM:157980 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia |
ORPHA:3214 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Absent thumb, Ap... |
OMIM:612447 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum |
OMIM:605282 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Hypoplasia of teeth, Accessory oral frenulum, Flexion contracture, Camptodactyly |
ORPHA:88630 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Scarf Syndrome |
|
Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Perineal hypospadias, Microp... |
ORPHA:3134 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence... |
OMIM:619184 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... |
OMIM:265900 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morpholog... |
ORPHA:96263 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Metacarpal osteolysis, Ankle swelling, Pes cavus, Congenital diaphragmatic hernia, Ca... |
OMIM:166300 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Cerebral calcification, Carious teeth, Micrognathia, Hypoplasia of the zygom... |
ORPHA:3145 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Ohdo Syndrome |
|
Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Prot... |
OMIM:249620 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Premature occlusive vascular stenosis, Arteriosclerosis, Calcification of fa... |
OMIM:177850 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus |
ORPHA:99811 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco... |
OMIM:226600 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Oral mucosal blisters |
ORPHA:79411 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Retrognathia,... |
ORPHA:2756 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Seckel Syndrome 1 |
|
Hypospadias, Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, E... |
OMIM:210600 |
| Usher Syndrome |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia |
ORPHA:886 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta |
OMIM:613849 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| 49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morphology, Mandibular pro... |
ORPHA:96264 |
| Developmental And Epileptic Encephalopathy 66 |
|
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod... |
OMIM:618067 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth |
ORPHA:94089 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Hypospadias, Microdontia, Micropenis, Diastema |
OMIM:619718 |
| Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth |
OMIM:141300 |
| Schimke Immuno-Osseous Dysplasia |
|
Ischemic stroke, Minimal change glomerulonephritis, Nephrotic range proteinuria, Arteriosclerosis... |
ORPHA:1830 |
| Temtamy Syndrome |
|
Aortic aneurysm, Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum |
OMIM:218340 |
| Catifa Syndrome |
|
Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,... |
OMIM:618761 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dentition, Mucopolysacchari... |
ORPHA:582 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria |
ORPHA:839 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Phosphoethanolaminuria, Premature loss of primary teeth, Elevated urine pyrophosphate |
OMIM:241510 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Unilateral renal agenesis, Proximal tubulopathy, Enamel hypoplasia, Patent ductus a... |
OMIM:614576 |
| Knobloch Syndrome 2 |
|
Abnormal pulmonary interstitial morphology, Enamel hypoplasia, Micrognathia, Patent ductus arteri... |
OMIM:618458 |
| Eem Syndrome |
|
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... |
ORPHA:1897 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Ureterocele, Enamel hypoplasia, Hydronephrosis, Urethral stricture, Oral mucosal blist... |
ORPHA:79403 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Hypospadias, Inguinal hernia,... |
ORPHA:2409 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Cerebral calcification, Craniofacial hyperostosis, Delayed eru... |
ORPHA:1782 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of the dentition... |
ORPHA:363417 |
| Mucolipidosis Type Iii |
|
Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Inguinal h... |
ORPHA:577 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... |
ORPHA:289601 |
| Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Conical tooth, Recurrent pneumonia, Tooth malposition |
OMIM:617475 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Hydronephrosis, Thick verm... |
ORPHA:364028 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate... |
ORPHA:2728 |
| Raine Syndrome |
|
Hydroureter, Cerebral calcification, Gingival overgrowth, Mandibular prognathia, High palate, Nar... |
OMIM:259775 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth |
ORPHA:1656 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Widely spaced teeth, Inguinal hernia, Keratan sulfate excretion in urine, Mandibu... |
OMIM:253000 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Median cleft palate |
ORPHA:2432 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... |
ORPHA:37553 |
| Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Broad alveolar ridges, Premature loss of teeth, Selective to... |
OMIM:164200 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Pulmonary hypoplasia, D... |
OMIM:184260 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Smo... |
ORPHA:2563 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip |
OMIM:300484 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Bilateral cleft palate, Abnormal dental enamel morphology, Abno... |
ORPHA:3253 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... |
OMIM:605274 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening |
ORPHA:2180 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... |
OMIM:257850 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Widely spaced teeth, Inguinal hernia, Keratan sulfate excretion in urine, Mandibu... |
OMIM:253010 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Ascending tubular aorta aneurysm, Micrognathia, Hydronep... |
ORPHA:444072 |
| Smith-Magenis Syndrome |
|
Short philtrum, Mandibular prognathia, Abnormality of the ureter, Cleft upper lip, Micrognathia, ... |
ORPHA:819 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... |
OMIM:170390 |
| Pycnodysostosis |
|
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... |
ORPHA:763 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Codas Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Hydroureter, Delayed eruption of t... |
ORPHA:1458 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth... |
ORPHA:2863 |
| Acrootoocular Syndrome |
|
Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o... |
ORPHA:2980 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Generalized aminoaciduria, Delayed eruption of teeth |
OMIM:264700 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Carious teeth, Delayed eruption of teeth |
OMIM:277440 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... |
OMIM:271530 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... |
OMIM:258860 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia |
OMIM:606893 |
| Xfe Progeroid Syndrome |
|
Premature loss of teeth, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Protei... |
OMIM:610965 |
| Cockayne Syndrome Type 1 |
|
Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma... |
ORPHA:90321 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Retrognathia, Ectopic kidney, Umbilical hernia, Narrow palate, Oligodontia, Camptodactyly, Malar ... |
OMIM:235510 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition |
OMIM:615802 |
| Scarf Syndrome |
|
Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Perineal hypospadias, Microp... |
OMIM:312830 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Oligodactyly, High pal... |
OMIM:201170 |
| Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Peg-shaped maxillary lateral incisors, High palate, T... |
ORPHA:2751 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Periarticular calcification, Renal artery stenosis, Generalized arterial calcification, Carotid a... |
OMIM:208000 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia |
OMIM:616202 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Detrusor sphincter dyssynergia, Urinary incontinence, Neurogenic bladder, Macrodont... |
ORPHA:466722 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis, Chronic sinusitis |
OMIM:300455 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... |
ORPHA:85188 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... |
ORPHA:438216 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... |
OMIM:608612 |
| Calciphylaxis |
|
Cellulitis, Stage 5 chronic kidney disease, Arterial calcification |
ORPHA:280062 |
| Craniolenticulosutural Dysplasia |
|
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... |
ORPHA:50814 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Amelogenesis imperfecta, Widely spaced teeth, Recurrent lower respiratory tract infections, Delay... |
OMIM:619229 |
| Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta |
OMIM:613982 |
| Alpha-Mannosidosis |
|
Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Inguinal hernia, Gingival overgrow... |
ORPHA:61 |
| Cockayne Syndrome Type 3 |
|
Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, Aortic root an... |
ORPHA:90324 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Hematuria, Abnormal dental enamel morphology, Recurrent respiratory infections, Abnorm... |
ORPHA:1334 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Recurrent respiratory infections, Congenital pulmonary airway malformation, Om... |
OMIM:243150 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro... |
OMIM:620250 |
| Eiken Syndrome |
|
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... |
ORPHA:79106 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia, Nephrocalcinosis |
OMIM:240300 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... |
OMIM:268305 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... |
OMIM:216550 |
| Cole-Carpenter Syndrome 1 |
|
Micrognathia, Dentinogenesis imperfecta, Microdontia |
OMIM:112240 |
| Dysostosis, Stanescu Type |
|
Abnormal palate morphology, Abnormal dental enamel morphology, Cerebral calcification, Abnormalit... |
ORPHA:1798 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth |
ORPHA:181 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Moyamoya phenomenon, Retrognathia, Hypospadias, Microdontia, Enamel hypoplasia, Dilatation of the... |
OMIM:210720 |
| Orofaciodigital Syndrome I |
|
Supernumerary tooth, Vascular dilatation, Polycystic kidney dysplasia, High palate, Ankyloglossia... |
OMIM:311200 |
| Ellis Van Creveld Syndrome |
|
Epispadias, Thin vermilion border, Hydroureter, Hypospadias, Emphysema, Delayed eruption of teeth... |
ORPHA:289 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Vasculitis, Persistence of primary teeth, Proteinuria, Renal insufficiency |
ORPHA:375 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Hypercalciuria, Nephrolithiasis, Hypermagnesiuria, Renal calcium wasting... |
OMIM:248190 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thin vermilion border, Dilation of Virchow-Robin spaces, Hypocalciuria, Conical incisor, Hypophos... |
ORPHA:73223 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Periodontitis, Premature loss of teeth, Hydronephrosis, Dentinogenesis imperfecta, ... |
OMIM:619269 |
| Kilquist Syndrome |
|
Hypoplasia of teeth, Mandibular prognathia, Wide mouth |
OMIM:619080 |
| Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cl... |
OMIM:619736 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Nephronophthisis, Everted lower lip vermilion, Hypoplasia of teeth, Microgna... |
OMIM:614099 |
| Hamamy Syndrome |
|
Inguinal hernia, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Microgn... |
OMIM:611174 |
| Thiel-Behnke Corneal Dystrophy |
|
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... |
ORPHA:98960 |
| Congenital Syphilis |
|
High palate, Notched primary central incisor, Nephrotic syndrome, Semilunar tooth, Mulberry molar... |
ORPHA:499009 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Temporomandibular joint ankylosis, Megalocornea, M... |
OMIM:164900 |
| Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Recurrent pneumonia, Atelectasis, Chronic sinusitis |
OMIM:615294 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of primary teeth, Chondrocalcinosis, Premature loss of permanent teeth |
OMIM:146300 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti... |
ORPHA:2916 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Nephrocalcinosis, Coronary artery calcification |
OMIM:614473 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Mandibuloacral Dysplasia |
|
Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ... |
ORPHA:2457 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... |
ORPHA:2557 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion |
ORPHA:1858 |
| Short Syndrome |
|
Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Inguinal hernia, Abnorm... |
ORPHA:3163 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corne... |
OMIM:609465 |
| Sanjad-Sakati Syndrome |
|
Thin vermilion border, Hypoplasia of penis, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:2323 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hypoplasia of the premaxilla, Long philt... |
ORPHA:1106 |
| Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality... |
ORPHA:952 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Patent duct... |
OMIM:613680 |
| Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Abnormal dental enamel morphology, Non-midline cleft of the upper lip, Man... |
ORPHA:2710 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydronephrosis, Patent... |
OMIM:619797 |
| Orofaciodigital Syndrome Ix |
|
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Toe syn... |
OMIM:258865 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Wide mouth, Thick vermilion border |
OMIM:618506 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... |
OMIM:616300 |
| Orofacial Cleft 15 |
|
Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c... |
OMIM:616788 |
| Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Gingivitis |
ORPHA:3194 |
| Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Cerebral calcification, Recurrent aphthous stomatitis |
OMIM:212750 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Pneumonia, Hypocalcification of dental enamel |
ORPHA:169090 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft palate, Carious teeth, Conical tooth |
ORPHA:1997 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract... |
OMIM:259600 |
| Cataract 21, Multiple Types |
|
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... |
OMIM:610202 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Abnormal dental enamel morphology, Macroscopic hematuria, Proteinuria, Membranop... |
ORPHA:251004 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Supernumerary tooth, Oligodontia, Abnormality of the dentition |
ORPHA:1264 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Carious teeth, Micrognathia, Cleft palate, Malar flattening |
OMIM:101805 |
| Marshall Syndrome |
|
Thick lower lip vermilion, Absent frontal sinuses, Calcification of falx cerebri, Thick upper lip... |
OMIM:154780 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Aortic aneurysm |
OMIM:166200 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... |
OMIM:617319 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Oral ulcer, Microdontia, Enamel hypoplasia, Downturned corners of mouth,... |
OMIM:617052 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short philtrum, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturned corners of mouth, Micr... |
ORPHA:391408 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta, Recurrent pneumonia, Nephrotic syndrome |
OMIM:612783 |
| Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... |
OMIM:150400 |
| Laron Syndrome |
|
Hypoplasia of penis, Delayed eruption of teeth, Microdontia, Tooth agenesis, Micrognathia |
ORPHA:633 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Generalized aminoaciduria, Delayed eruption of teeth |
ORPHA:289157 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Absent distal phalanges, Corneal... |
OMIM:619339 |
| Eec Syndrome |
|
Orofacial cleft, Hypospadias, Abnormal dental enamel morphology, Vesicoureteral reflux, Microdont... |
ORPHA:1896 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Nail-Patella Syndrome |
|
Hematuria, Coronary artery dissection, Elbow flexion contracture, Nephrotic syndrome, Enamel hypo... |
ORPHA:2614 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
| Cleidocranial Dysplasia |
|
Supernumerary tooth, High, narrow palate, Recurrent respiratory infections, Delayed eruption of t... |
ORPHA:1452 |
| Immunodeficiency 9 |
|
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis |
OMIM:612782 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Short philtrum, Vesicovaginal fistula, Mandibular prognathia, Exaggerated cupid's bow, High palat... |
OMIM:300896 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia |
OMIM:616294 |
| 3M Syndrome |
|
Hypospadias, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip verm... |
ORPHA:2616 |
| Tuberous Sclerosis 1 |
|
Gingival fibromatosis, Cerebral calcification, Renal cyst, Shagreen patch, Dental enamel pits, Pu... |
OMIM:191100 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Microdonti... |
ORPHA:1812 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... |
ORPHA:1110 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Inguinal hernia, Dental crowding, Agenesis of maxillary incisor, High ... |
OMIM:620545 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Short philtrum, Abnormal dental enamel morphology, Malar flattening, Crossed... |
ORPHA:3258 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... |
OMIM:619777 |
| Dyskeratosis Congenita |
|
Periodontitis, Cerebral calcification, Abnormality of the dentition, Hypoplasia of the maxilla, C... |
ORPHA:1775 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue |
OMIM:612079 |
| Cockayne Syndrome |
|
Urinary incontinence, Cerebral calcification, Cerebellar dentate nucleus calcification, Delayed e... |
ORPHA:191 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Inguinal hernia, Knee flexion contracture, Mandibular prognathia, Elbow flexion cont... |
OMIM:151050 |
| Chand Syndrome |
|
Hydroureter, Atelectasis, Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commi... |
ORPHA:1401 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Retrognathia |
OMIM:234050 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Bilateral cleft palate, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
| Osteogenesis Imperfecta, Type Xiii |
|
Thin vermilion border, Enuresis nocturna, Dentinogenesis imperfecta, Umbilical hernia, Long philtrum |
OMIM:614856 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... |
OMIM:600785 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ... |
OMIM:601701 |
| Cleidocranial Dysplasia 1 |
|
Narrow palate, Supernumerary tooth, High, narrow palate, Absent frontal sinuses, High palate, Hyp... |
OMIM:119600 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia... |
ORPHA:439822 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... |
ORPHA:166016 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... |
ORPHA:199302 |
| Pseudohypoparathyroidism Type 1C |
|
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Cerebral calcif... |
ORPHA:79444 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormal palate morphology, Congenital diaphragmatic hernia, Abnormal lung lobatio... |
ORPHA:2063 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... |
OMIM:251230 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum |
OMIM:618825 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Orofacial cleft, Inguinal hernia, Long penis, Polycystic kidney dyspl... |
ORPHA:1988 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... |
OMIM:257980 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis |
ORPHA:808 |
| Koolen-De Vries Syndrome |
|
Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Abnormal dental enamel mor... |
ORPHA:96169 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Renal cyst, Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth |
OMIM:272460 |
| Stickler Syndrome Type 2 |
|
Cataract, Cleft palate, Corneal opacity |
ORPHA:90654 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Vasculitis, Transient ischemic attack, Abnormal internal carotid artery morphology, ... |
ORPHA:365 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E... |
OMIM:618342 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... |
OMIM:227270 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Micropenis, Contracture of the proximal ... |
ORPHA:293967 |
| Cockayne Syndrome A |
|
Loss of facial adipose tissue, Renal insufficiency, Mandibular prognathia, Hypoplasia of teeth, C... |
OMIM:216400 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill... |
OMIM:616367 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri... |
OMIM:620076 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Vascular dilatation, Atelectasis, Delayed eruption of teeth, Gingivitis, Abnormality of the denti... |
ORPHA:2314 |
| Slc35A2-Cdg |
|
Transient nephrotic syndrome, Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes... |
ORPHA:356961 |
| Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Red urine, Corneal scarring, Atypical scarring of skin, Pink urine, Joint contract... |
OMIM:263700 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Hypospadias, Abnormal dental enamel morphology, Abnormal dental morph... |
ORPHA:85199 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephrocalcinosis, Multip... |
ORPHA:534 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Ulnar bowing, Corneal opacity, Microdontia, Micromelia, Proteinuria, Aplasia/Hypoplasi... |
ORPHA:1765 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Cleft lip, Notched primary central incisor |
OMIM:620519 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ... |
OMIM:305100 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Oral mucosal blisters, Urethral stricture |
ORPHA:79409 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Smooth tongue, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79396 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition |
ORPHA:3238 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Retrognathia, Unilateral renal agenesis, Inguinal hernia, Patent ductus arteriosus, Aortic root a... |
OMIM:620654 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Increased urinary sulfite level, Decreased urinary sulfate, Delayed eruption of... |
OMIM:272300 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... |
OMIM:248250 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Widely spaced teeth, Inguinal hernia, Recurrent respiratory infections, High... |
OMIM:218330 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed eruption of permanent teeth |
OMIM:619356 |
| Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Osteoporosis, Flexion contracture, Umbilical hernia, Nephropath... |
ORPHA:87876 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Short long bone, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal w... |
OMIM:618961 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity |
ORPHA:1532 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Renal tubular epithelial necrosis, Hydroureter, Multicystic kidney dysplasia, Dysur... |
ORPHA:79404 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Eiken Syndrome |
|
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... |
OMIM:600002 |
| Frank-Ter Haar Syndrome |
|
Short philtrum, Delayed eruption of teeth, Inguinal hernia, Premature loss of teeth, Gingival ove... |
ORPHA:137834 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou... |
OMIM:607812 |
| Codas Syndrome |
|
Enamel hypoplasia, Omphalocele, Delayed eruption of teeth |
OMIM:600373 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Dentinogenesis imperfecta |
OMIM:616507 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Bladder exstrophy, Penoscrotal hypospadias, Short philtrum, Rootless teeth... |
ORPHA:1299 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Dental malocclusion, Inguinal hernia, High palate, Hypoplasia of teeth, Paranasal si... |
OMIM:603457 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Atelectasis, Hypospadias, Glandular hypospadias, High palate, Penile hypospadias, M... |
OMIM:300219 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea |
OMIM:217300 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Increased urinary disaccharide excretion, Broad tibial met... |
OMIM:271630 |
| C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Oral ulcer, Vasculitis in the skin, Br... |
OMIM:620321 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin vermilion border, Velopharyngeal insufficiency, Cleft palate, Tetralogy of Fallot, Enamel ag... |
OMIM:614701 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Dental crowding, Persistence of primary teeth, Recurrent pneumonia, Umb... |
OMIM:619769 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormality of the dentition, Abnormality of the humerus, Camptodactyly of finge... |
ORPHA:1794 |
| Costello Syndrome |
|
Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:3071 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion |
OMIM:608470 |
| Generalized Arterial Calcification Of Infancy |
|
Calcification of the aorta, Periarticular calcification, Cerebral calcification, Nephrocalcinosis... |
ORPHA:51608 |
| W Syndrome |
|
Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen... |
ORPHA:2804 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Nephrolithiasis, Micrognathia, Recurrent pneumonia, Dentinogenesis imperfecta, M... |
OMIM:613848 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... |
ORPHA:3344 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Femoral bowing, Short ribs, Short long bone, Absent tibia, Cone-shaped epiphysis... |
OMIM:613091 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal tubular dysfunction, Renal phosphate wasting, Enamel hypomineralization |
OMIM:307800 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger |
ORPHA:1883 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia, Long penis |
OMIM:262190 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... |
OMIM:201000 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn... |
ORPHA:884 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short philtrum, Short ribs, Short ... |
OMIM:607143 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... |
ORPHA:2712 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Distal Deletion 6P |
|
Orofacial cleft, Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Short phil... |
ORPHA:96125 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B... |
OMIM:616354 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica... |
OMIM:200990 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Atrophic scars, Carious teeth, Atypical scarring of skin, Keloids, Oral mucosal blisters |
ORPHA:79410 |
| Trichothiodystrophy |
|
Retrognathia, High, narrow palate, Recurrent bronchopulmonary infections, Enamel hypoplasia, Cari... |
ORPHA:33364 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Oligodontia, Natal tooth |
OMIM:601345 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Developmental cataract, Flexion contracture, Micropenis |
OMIM:618815 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Patent ductus arterios... |
ORPHA:2092 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ... |
ORPHA:2788 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Unilateral renal agenesis, Aniridia, Corneal opacity, Micrognathia, Downt... |
ORPHA:1064 |
| Treacher-Collins Syndrome |
|
Retrognathia, Patent ductus arteriosus, Hypoplasia of penis, Abnormal dental enamel morphology, O... |
ORPHA:861 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, Pulmonary pneumatocele, High palate, Persistence of primary teeth, Recurrent... |
OMIM:619752 |
| Orofaciodigital Syndrome Ii |
|
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... |
OMIM:252100 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Pycnodysostosis |
|
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... |
OMIM:265800 |
| Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Micropenis, Camptodactyly, Joint contracture of the hand |
OMIM:113000 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... |
OMIM:608940 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Hypodontia, Carious teeth, Microdontia, Conical tooth |
OMIM:620192 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Variant Abeta2M Amyloidosis |
|
Abnormal vascular morphology, Abnormal salivary gland morphology, Cardiovascular calcification, C... |
ORPHA:314652 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Talipes, Finger syndactyly, Narrow mouth, Corneal opacity, Aplasia/Hypoplasi... |
ORPHA:1234 |
| Lacrimoauriculodentodigital Syndrome |
|
Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Vesicoure... |
ORPHA:2363 |
| Char Syndrome |
|
Short philtrum, Triangular mouth, Everted lower lip vermilion, Persistence of primary teeth, Mala... |
ORPHA:46627 |
| Osteogenesis Imperfecta |
|
Inguinal hernia, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel m... |
ORPHA:666 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... |
ORPHA:56305 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Delayed eruption of permanent teeth, Broad alveolar ridges, Mandibular prognathia, Facial hyperos... |
OMIM:218400 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Abnormal dentin morphology, Tooth abscess, Enthesitis, Ce... |
ORPHA:89936 |
| Pseudohypoparathyroidism Type 1A |
|
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Cerebral calcif... |
ORPHA:79443 |
| Cornelia De Lange Syndrome 6 |
|
Inguinal hernia, Pulmonary artery atresia, Long philtrum, Cleft lip, Macrodontia of permanent max... |
OMIM:620568 |
| Hepatoerythropoietic Porphyria |
|
Scarring, Erythrodontia, Red urine, Scarring alopecia of scalp, Purple urine, Red-brown urine |
ORPHA:95159 |
| Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... |
OMIM:614753 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dental crowding, Premature loss of teeth, Loss of subcutaneous adipose tissue in limbs, High pala... |
OMIM:248370 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, High palate, Cigarette-paper scars, Camptodactyly of finger, Bifid uvu... |
OMIM:612350 |
| Familial Nasal Acilia |
|
Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent upper respiratory tract infections |
ORPHA:922 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Micrognathia, Natal tooth, Proteinuria, Tubulointerstitial nephritis |
OMIM:616901 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... |
ORPHA:364577 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Dental crowding, Keloids, Narrow palate, Hypospadias, Talon cusp, Cleft palate, Vas... |
OMIM:180849 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... |
ORPHA:171673 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Micrognathia, Inguinal hernia, Multiple unerupted teeth |
ORPHA:2645 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... |
ORPHA:85167 |
| Orofaciodigital Syndrome Type 1 |
|
Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip pit, Abnormality of the denti... |
ORPHA:2750 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Hypospadias, Unilateral renal agenesis, Thin lower lip vermilion, Abnormality of th... |
ORPHA:363444 |
| Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Cerebellar dentate nucleus calcification, Basal ganglia calcification, Urinary incontinence, Calc... |
OMIM:213600 |
| Singleton-Merten Syndrome 1 |
|
Aortic arch calcification, Hypoplasia of the tooth germ, Eruption failure, Pleural effusion, Shor... |
OMIM:182250 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormality of the dentition, Neoplasm of the lung, Carious teeth, Abnormal oral mucosa morpholog... |
ORPHA:659 |
| Alkaptonuria |
|
Decreased glomerular filtration rate, Aortic aneurysm, Nephrolithiasis, Mitral valve calcificatio... |
OMIM:203500 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Retrognathia, Tibial bowing, Corneal opacity, Flexion contracture of finger, Short d... |
OMIM:601812 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Hip dysplasia, Tali... |
OMIM:617183 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Narrow palate, Supernumerary tooth, Pneumonia, Hypospadias, Recurrent respiratory infections, Den... |
ORPHA:353281 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin vermilion border, Recurrent lower respiratory tract infections, Short philtrum, Joint contra... |
ORPHA:363611 |
| Brittle Cornea Syndrome 2 |
|
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... |
OMIM:614170 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thick lower lip vermilion, Astigmatism, Myopic astigmatism, Mandibular prognathia, Microcornea, C... |
OMIM:152950 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
| Gaucher Disease, Type Iii |
|
Vascular calcification |
OMIM:231000 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Premature loss of teeth, Carious teeth, Oral leukoplakia |
OMIM:616353 |
| Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Cheilitis, Periodontitis, Abnormal dental enamel morphology, Phimosis, G... |
ORPHA:2908 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Mandibular prognathia, Conotruncal defect, Everted lower lip vermilion, Persistence ... |
OMIM:610253 |
| Hypophosphatasia |
|
Emphysema, Abnormality of the dentition |
ORPHA:436 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Oligodontia, Corneal opacity, Micrognathia, Wide mouth, Keratitis, Smooth philtrum, Conjunctiviti... |
OMIM:602562 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormal metacarpal morphology, Short philtrum, Hypoplasia of penis, Finger syndactyly, Exaggerat... |
ORPHA:284160 |
| Bare Lymphocyte Syndrome, Type I |
|
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sinusitis |
OMIM:604571 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, High palate, Narrow mouth, Camptodactyly of finger, Downturned ... |
ORPHA:1327 |
| Omodysplasia 1 |
|
Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Axillary pte... |
OMIM:258315 |
| Craniometadiaphyseal Dysplasia |
|
Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Natal tooth, Mal... |
OMIM:269300 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth |
OMIM:612714 |
| Pulmonary Alveolar Microlithiasis |
|
Calcification of the aorta, Pneumothorax, Pleural thickening, Hematuria, Bronchitis, Stippled cal... |
ORPHA:60025 |
| Cherubism |
|
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... |
OMIM:118400 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Bent Bone Dysplasia Syndrome 1 |
|
Gingival overgrowth, Micrognathia, Natal tooth, Malar flattening |
OMIM:614592 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue |
ORPHA:140936 |
| Erythrokeratodermia Variabilis |
|
Corneal opacity, Patchy palmoplantar hyperkeratosis, Brachydactyly, Cataract, Tapered finger |
ORPHA:317 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... |
ORPHA:293603 |
| Lowe Oculocerebrorenal Syndrome |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Corneal scarring, Camptodactyly of finger, Enam... |
OMIM:309000 |
| Hurler Syndrome |
|
Calvarial hyperostosis, Corneal opacity, Flared iliac wing, Dermatan sulfate excretion in urine, ... |
OMIM:607014 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Cleft palate, Natal tooth, Short philtrum, Scarring alopecia of scalp |
OMIM:617337 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Dental crowding, Omphalocele, Micrognathia, Natal tooth, Pulmonary hypoplas... |
OMIM:145420 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Dental malocclusion, Renal cyst, Microretrognathia |
OMIM:615560 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Repeated pneumothoraces, Aortic root aneurysm, Atrophic scars, Ascending tubular aor... |
ORPHA:536467 |
| Moebius Syndrome |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, High palate, ... |
ORPHA:570 |
| Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Hydronephrosis, Dentinogenesis imperfecta, Long philtrum, Absent pul... |
OMIM:610682 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Median cle... |
OMIM:119800 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand |
OMIM:608257 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet... |
OMIM:149730 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Delayed eruption of teeth, Tooth malposition, Vesicoureteral reflux, O... |
ORPHA:2484 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... |
OMIM:300554 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Immunodeficiency 49 |
|
Short philtrum, Pulmonary artery stenosis, Micrognathia, Natal tooth, Umbilical hernia |
OMIM:617237 |
| Granular Corneal Dystrophy Type Ii |
|
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... |
ORPHA:98963 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Oligodontia, Abnormality o... |
ORPHA:2095 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Abs... |
OMIM:274000 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Short philtrum, Inguinal hernia, Mandibular prognathia, Microcornea, Everted lower l... |
OMIM:601499 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Reduced subcutaneous adipose tissue, Micrognathia, Smooth philtru... |
OMIM:619322 |
| Rothmund-Thomson Syndrome |
|
Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective toot... |
ORPHA:2909 |
| Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Renal insufficiency, Pulmonary fibrosis |
ORPHA:79430 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue |
OMIM:258850 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Retrognathia, Astigmatism, Hypospadias, Talipes equinovarus, Hypodontia, Vesi... |
OMIM:301056 |
| Van Den Ende-Gupta Syndrome |
|
Narrow foot, Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower l... |
OMIM:600920 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
| Elsahy-Waters Syndrome |
|
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Penoscrotal hypospadias, Hyp... |
OMIM:211380 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Angular cheilitis, Oral leukoplakia |
OMIM:167210 |
| Dermochondrocorneal Dystrophy |
|
Gingival overgrowth, Subepithelial corneal opacities, Corneal dystrophy, Irregular tarsal ossific... |
OMIM:221800 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... |
OMIM:604229 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Cerebral calcification... |
ORPHA:199276 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ... |
ORPHA:96334 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Advanced eruption of teeth, Coronary artery atherosclerosis, Loss of subcutaneous ad... |
ORPHA:2348 |
| Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi... |
ORPHA:47159 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ... |
OMIM:268400 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Mandibular prognathia, Corneal opacity, Micrognathia, Hip dysplasia,... |
ORPHA:496790 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Orofacial cleft, Talipes, Finger syndactyly, Corneal opacity, Mi... |
ORPHA:1647 |
| Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Inguinal hernia |
OMIM:610915 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Mucopolysacchariduria, Generalized osteoporosis, Short palm, Short femoral neck, Opa... |
OMIM:184095 |
| Chime Syndrome |
|
Supernumerary tooth, Short philtrum, Hypodontia, Aplasia/Hypoplasia of the phalanges of the toes,... |
ORPHA:3474 |
| Epithelial Recurrent Erosion Dystrophy |
|
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... |
ORPHA:293381 |
| Congenital Erythropoietic Porphyria |
|
Scarring, Erythrodontia, Increased urinary porphobilinogen, Scarring alopecia of scalp, Purple ur... |
ORPHA:79277 |
| Posterior Polymorphous Corneal Dystrophy |
|
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... |
ORPHA:98973 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Unilateral renal agenesis, Corneal opacity, Developmental cataract, Adducted thumb, H... |
OMIM:616603 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, High, narrow palate, Hypospadias, Inguinal hernia, Abnormal dental enamel morphology,... |
ORPHA:2658 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth |
ORPHA:236 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Retrognathia, High, narrow palate, Emphysema, Arterial tortuosity, Inguinal hernia,... |
OMIM:614816 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening, Long philtrum, ... |
OMIM:612921 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, High, narrow palate, Delayed eruption of teeth, Cerebral calcification, Micrognathi... |
ORPHA:2780 |
| Alkaptonuria |
|
Atherosclerosis, Intervertebral disk calcification, Aortic aneurysm, Nephrolithiasis, Mitral valv... |
ORPHA:56 |
| Chst3-Related Skeletal Dysplasia |
|
Long philtrum, Flexion contracture, Delayed eruption of teeth |
ORPHA:263463 |
| Microphthalmia With Limb Anomalies |
|
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... |
OMIM:206920 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Everted lower lip vermilion, Hernia, Advanced eruption of teeth, Hypospadias... |
ORPHA:261494 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Tibial bowing, High palate, Forearm undergrowth, Micr... |
ORPHA:314795 |
| Dent Disease 1 |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... |
OMIM:300009 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... |
ORPHA:536471 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Renal artery stenosis, Recurrent upper respiratory tract infections, Functional abnormality of th... |
ORPHA:391487 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Caffey Disease |
|
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... |
OMIM:114000 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hip contracture, Hydronephrosis, Pulmonary hypoplasia, K... |
ORPHA:85201 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a... |
OMIM:614823 |
| Doors Syndrome |
|
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu... |
ORPHA:79500 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth |
OMIM:614381 |
| Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Long philtrum, Aplastic clavic... |
ORPHA:198 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... |
OMIM:601356 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Sandal gap, High palate, Abnormality of the dentition, Camptodactyly of toe, Toe syndac... |
ORPHA:251038 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... |
ORPHA:98974 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... |
OMIM:263520 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Flexion contracture, Pulmonary fibrosis, Oliguria, Renal insufficiency |
ORPHA:220393 |
| Granular Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... |
ORPHA:98962 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Oligodontia, Abnormality of the dent... |
ORPHA:2315 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Agenesis of permanent teeth, Wide mouth, Transposition of the great arteries, In... |
OMIM:619503 |
| Cockayne Syndrome B |
|
Loss of facial adipose tissue, Renal insufficiency, Cerebellar calcifications, Mandibular prognat... |
OMIM:133540 |
| Kniest Dysplasia |
|
Rhizomelia, Inguinal hernia, Delayed epiphyseal ossification, Splayed epiphyses, Flared metaphysi... |
OMIM:156550 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... |
OMIM:620099 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Ureteral duplication, Inguinal hernia, Delayed eruption of teeth... |
OMIM:305600 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, High, narrow palate, Everted lower lip vermilion, Micrognathia, Hydronephrosis, Wid... |
ORPHA:96092 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Tooth agenesis, Supernumerary tooth, Abnormal dental morphology, Delayed eruption of teeth |
ORPHA:3353 |
| Meier-Gorlin Syndrome 4 |
|
Thick lower lip vermilion, Emphysema, Narrow mouth, Hypoplasia of the maxilla, Micrognathia |
OMIM:613804 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cerebral calcification, Dental malocclusion, Basal ganglia calcification, Distal renal tubular ac... |
OMIM:259730 |
| Primary Ciliary Dyskinesia |
|
Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguus, Abnormal inferior ven... |
ORPHA:244 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Retrognathia, Radial deviation of finger, Elbow flexion contracture, High palate, Narrow mouth, C... |
OMIM:272430 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal subclavian artery morphology, Dental crowding, Keloids, Narrow palate, Hypospadias, Talo... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal subclavian artery morphology, Dental crowding, Keloids, Narrow palate, Hypospadias, Talo... |
ORPHA:353277 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... |
ORPHA:98969 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Hypospadias, Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upp... |
OMIM:225500 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Atelectasis, Tented upper lip vermilion |
ORPHA:896 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Retrognathia, Posterolateral diaphragmatic hernia, Multiple bladder diverticula, Vascular dilatat... |
OMIM:613177 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Mandibular prognathia, Nephrolithiasis, Vertebrobasilar dolichoectasia, Tented up... |
ORPHA:521445 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Corneal opacity, Dermatan sulfate excretion in urine, Umbilical hernia, Camptoda... |
OMIM:607015 |
| Arteriosclerosis, Severe Juvenile |
|
Calcification of the aorta, Central retinal vessel vascular tortuosity, Arteriosclerosis, Chronic... |
OMIM:208060 |
| Otopalatodigital Syndrome Type 2 |
|
Developmental glaucoma, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, ... |
ORPHA:90652 |
| Mucopolysaccharidosis Type 7 |
|
Diaphyseal undertubulation, Abnormal hip bone morphology, Inguinal hernia, Epiphyseal stippling, ... |
ORPHA:584 |
| Microphthalmia With Brain And Digit Anomalies |
|
Proximal placement of thumb, Finger syndactyly, Microcornea, High palate, Sclerocornea, Cataract,... |
ORPHA:139471 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Wide mouth, L... |
ORPHA:1692 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo... |
ORPHA:464 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Broad toe... |
OMIM:612582 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Hypoplasia of penis, Tooth agenesis, Wide mouth, Long philtrum, ... |
ORPHA:818 |
| Primary Hyperoxaluria |
|
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Rootless teeth, Hyperoxalur... |
ORPHA:416 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Congenital Rubella Syndrome |
|
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract |
ORPHA:290 |
| Zellweger Syndrome |
|
Hypospadias, Epiphyseal stippling, High palate, Corneal opacity, Posterior embryotoxon, Micrognat... |
ORPHA:912 |
| Microphthalmia, Lenz Type |
|
Orofacial cleft, Hydroureter, Hypospadias, Delayed eruption of teeth, Abnormality of the dentitio... |
ORPHA:568 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Advanced eruption of teeth, Hypospadias, Short philtrum, Delayed erupt... |
OMIM:619148 |
| Wagro Syndrome |
|
Aniridia, Dental crowding, Mandibular prognathia, Corneal opacity, Micrognathia, Proteinuria, Mal... |
OMIM:612469 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Long philtrum, Clinodactyly of the 5th finger, Hypospadias, Non-... |
ORPHA:2059 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Congenital diaphragmatic herni... |
ORPHA:958 |
| Mucopolysaccharidosis, Type Ii |
|
Thick lower lip vermilion, Widely spaced teeth, Inguinal hernia, Delayed eruption of teeth, Derma... |
OMIM:309900 |
| Mucolipidosis Type Iv |
|
Genu recurvatum, Corneal opacity, Everted lower lip vermilion, Microdontia, Palmoplantar keratoderma |
ORPHA:578 |
| Sialidosis Type 1 |
|
Thick lower lip vermilion, Increased urinary O-linked sialopeptides, Corneal opacity, Urinary exc... |
ORPHA:812 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Micro... |
ORPHA:221008 |
| Turnpenny-Fry Syndrome |
|
Hypoplasia of the primary teeth, Widely spaced teeth, Recurrent respiratory infections, Dental cr... |
OMIM:618371 |
| Short-Rib Thoracic Dysplasia 12 |
|
Cystic renal dysplasia, Atelectasis, Inguinal hernia, Median cleft palate, Omphalocele, Renal hyp... |
OMIM:269860 |
| Miller-Dieker Lissencephaly Syndrome |
|
Inguinal hernia, Delayed eruption of teeth, Pelvic kidney, Midline brain calcifications, Camptoda... |
OMIM:247200 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Tetrasomy 9P |
|
Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Juxtaductal coarctat... |
ORPHA:3310 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Hydroureter, Knee flexion contracture, Delayed eruption of teeth, Abse... |
OMIM:305620 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Inguinal hernia, Mandibular prognathia, Short ribs, Short long bone, Spli... |
OMIM:252600 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Keratan sulfate excretion in urine, Gingival overgrowth, Corneal opacity, Generalized osteoporosi... |
ORPHA:423461 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, High palate, Abnormality of the den... |
ORPHA:221016 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... |
OMIM:228520 |
| Scheie Syndrome |
|
Pes cavus, Mandibular prognathia, Genu valgum, Corneal opacity |
OMIM:607016 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
| Arboleda-Tham Syndrome |
|
Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt... |
OMIM:616268 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| De Barsy Syndrome |
|
Osteopenia, Small, conical teeth, Inguinal hernia, Delayed eruption of teeth, High palate, Narrow... |
ORPHA:2962 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... |
OMIM:165590 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Corneal opacity, Hypoplasia of the maxilla, Conjunctival hyperemi... |
ORPHA:2399 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Hennekam Syndrome |
|
Retrognathia, Supernumerary tooth, Arteriovenous malformation, Ectopic kidney, Short philtrum, De... |
ORPHA:2136 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal metaphysis morphology, Thick lower lip vermilion, Widely spaced teeth, Abnormal hip bone... |
ORPHA:579 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Corneal opacity, Everted lower lip vermilion, Long ... |
OMIM:608670 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Multiple renal cysts, Umbilical hernia, Long philtrum, Hypospadi... |
ORPHA:567 |
| Mosaic Trisomy 8 |
|
Deep plantar creases, Clinodactyly of the 5th finger, Vesicoureteral reflux, High palate, Corneal... |
ORPHA:96061 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Short finger, Corneal opacity, Tapered finger |
ORPHA:1867 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Dislocated radial head, Rhizomel... |
OMIM:164745 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Hurler-Scheie Syndrome |
|
Hernia, Corneal opacity |
ORPHA:93476 |
| Holoprosencephaly 9 |
|
Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ... |
OMIM:610829 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... |
ORPHA:289176 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Genu valgum, Widely spaced teeth, Talipes equinovarus, Gingival ove... |
OMIM:253220 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Corneal opacity, Cataract, Oligosacchariduria, Macroglossia |
ORPHA:309288 |
| Acromelic Frontonasal Dysostosis |
|
U-Shaped upper lip vermilion, Patellar hypoplasia, Cleft upper lip, Mesomelic leg shortening, Cle... |
OMIM:603671 |
| Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Inguinal hernia, Delayed eruption of teeth, Hypoplastic iliac wing, Hypoplastic acet... |
OMIM:253200 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal thumb morphology, Abnormal palate morphology, Inguinal hernia, Narrow mouth, Corneal opa... |
ORPHA:2719 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Pulmonary fibrosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
| Gm1 Gangliosidosis |
|
Abnormal metaphysis morphology, Long philtrum, Abnormal diaphysis morphology, Inguinal hernia, Gi... |
ORPHA:354 |
| Stickler Syndrome |
|
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... |
ORPHA:828 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Genu valgum, Thick lower lip vermilion, Mucopolysacchariduria, Ep... |
ORPHA:583 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Mucopolysacchariduria, Broad thumb, Smooth philtrum, Cataract, Broad hallux phalanx |
ORPHA:585 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
| Atopic Keratoconjunctivitis |
|
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... |
ORPHA:163934 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Microcornea, Corneal opacity, Cataract, Bifid uvula, Cleft palate, Metatarsu... |
ORPHA:899 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Inguinal hernia, Gingival overgrowth, Corneal opacity, Protruding tongue, Developmen... |
ORPHA:93400 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Hypospadias, 2-3 toe syndactyly, Microcornea, Recurrent patellar dislocation, 3-4 fin... |
OMIM:615877 |
| Zimmermann-Laband Syndrome 1 |
|
Patent ductus arteriosus, Short philtrum, Delayed eruption of teeth, Gingival fibromatosis, Long ... |
OMIM:135500 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ... |
ORPHA:3472 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodactyly, Micrognath... |
OMIM:614230 |
| Peters-Plus Syndrome |
|
Thin vermilion border, Widely spaced teeth, Ureteral duplication, Hypospadias, Patent ductus arte... |
OMIM:261540 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Advanced eruption of teeth, Coronary artery atherosclerosis, Loss of subcutaneous ad... |
ORPHA:280365 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Corneal opacity, Cleft upper lip... |
OMIM:248340 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ... |
ORPHA:650 |
| Whim Syndrome |
|
Severe periodontitis, Atelectasis, Parotitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, Tet... |
ORPHA:51636 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Tooth malposition, Hypoplasia of penis, Failure of eruption of permanent teeth, ... |
ORPHA:2250 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Cheilitis, Abnormal tongue morphology, Abnormality of the dentition, Abnormal dental mo... |
ORPHA:158668 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Cranial hyperostosis, Talipes valgus, Genu valgum, Widely spaced teeth, Abnormality o... |
ORPHA:309282 |
| Scheie Syndrome |
|
Corneal opacity, Everted lower lip vermilion, Mucopolysacchariduria, Wide mouth, Thick vermilion ... |
ORPHA:93474 |
| Gaucher Disease, Type Iiic |
|
Calcification of the aorta, Mitral valve calcification, Aortic valve calcification |
OMIM:231005 |
| Ciliary Dyskinesia, Primary, 1 |
|
Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Bronchiectasis, Pneumonia, Chronic sin... |
OMIM:244400 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Autoamputation of digits, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
| Aicardi-Goutières Syndrome |
|
Lipoatrophy, Calcification of the aorta, Moyamoya phenomenon, Panniculitis, Aortic aneurysm, Cere... |
ORPHA:51 |
| Cousin Syndrome |
|
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... |
OMIM:260660 |
| Bloom Syndrome |
|
Bronchiectasis, Agenesis of maxillary lateral incisor, Malar flattening, Recurrent upper respirat... |
OMIM:210900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Kindler Syndrome |
|
Periodontitis, Phimosis, Gingivitis, Carious teeth, Urethral stenosis, Oral leukoplakia |
OMIM:173650 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... |
OMIM:169550 |
| Larsen Syndrome |
|
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Hy... |
OMIM:150250 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Recurrent lower respiratory tract infections, High palate, Renal artery stenosis, Renal hypoplasi... |
OMIM:617913 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Deep plantar creases, Hypoplasia of penis, High palate, Corneal opacity, Micr... |
ORPHA:99776 |
| Fucosidosis |
|
Mucopolysacchariduria, Lipoatrophy, Corneal opacity, Abnormality of the dentition |
ORPHA:349 |
| Cystinosis |
|
Rickets, Nephropathy, Corneal opacity, Proteinuria, Renal insufficiency, Aminoaciduria, Renal tub... |
ORPHA:213 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Gingival overgrowth, Corneal opacity, Protruding tongue, Umbilical hernia, Cataract |
ORPHA:93399 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cleft hard palate, Delayed eruption of teeth, Hypercalciuria, Dental crowding, Narrow mouth, Micr... |
OMIM:300990 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... |
ORPHA:254361 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Corneal dystrophy, Microcornea, Abnormality of the dentition, Sclerocornea, Cataract, Keratoconju... |
ORPHA:1806 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
| Norrie Disease |
|
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... |
OMIM:310600 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Delayed eruption of teeth, Abnormality of the dentition, Duplication of ren... |
ORPHA:2036 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... |
OMIM:616726 |
| Stromme Syndrome |
|
Preaxial polydactyly, Microcornea, Micrognathia, Hydronephrosis, Wide mouth, Cleft palate, Bilate... |
OMIM:243605 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Congenital diaphragmatic hernia,... |
OMIM:200980 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal zygomatic bone morphology, Tooth malposition, Mandibular prognathia, Carious teeth, Fail... |
ORPHA:2769 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Finger jo... |
OMIM:252605 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacif... |
OMIM:215250 |
| Barber-Say Syndrome |
|
Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... |
OMIM:211350 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring |
OMIM:602082 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea, Tooth malposition |
OMIM:268320 |
| Blomstrand Lethal Chondrodysplasia |
|
Protruding tongue, Micrognathia, Natal tooth, Coarctation of aorta, Malar flattening, Pulmonary h... |
ORPHA:50945 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
| Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Umbilical ... |
OMIM:601803 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Retrognathia, Epispadias, Hypospadias, Abnormal dental enamel mo... |
ORPHA:2556 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:619466 |
| Microphthalmia/Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Sclerocornea, Long philtrum, Iris coloboma |
OMIM:615145 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad finger, High, narrow palate, 11 pairs of ribs, Broad toe, Neurogenic bladder, 2-3 toe synda... |
ORPHA:488632 |
| Familial Adenomatous Polyposis 1 |
|
Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Multiple lipomas, Keloids |
OMIM:175100 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Hypospadias, Narrow mout... |
ORPHA:96097 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Calvarial osteosclerosis, Retinal calcification, Persistence of primary teeth, Carious teeth, Bas... |
ORPHA:93325 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... |
OMIM:221900 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Hypoplasia of penis, Everted lower lip vermilion, Microdontia... |
ORPHA:904 |
| Farber Disease |
|
Short finger, Abnormal foot morphology, Corneal opacity, Osteoporosis, Short toe, Flexion contrac... |
ORPHA:333 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Cigarette-paper scars, Descending aortic dissection, Cystocele, Diffuse ... |
OMIM:130050 |
| Familial Adenomatous Polyposis |
|
Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c... |
ORPHA:733 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bullet-sha... |
OMIM:252500 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Median cleft palate, Midline central nervous system lipomas, Aplasia/Hypopla... |
ORPHA:1827 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Camptodactyly, Metatarsus adductus, Micrognathia, Cleft palate, Brus... |
OMIM:214110 |
| Keutel Syndrome |
|
Emphysema, Epiphyseal stippling, Cerebral calcification, Recurrent bronchitis, Calcification of t... |
OMIM:245150 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Premature arteriosclerosis, Premature coronary artery atherosclerosis... |
ORPHA:391665 |
| Encephalocraniocutaneous Lipomatosis |
|
Lipoma, Pelvic kidney, Subcutaneous lipoma, Hypoplasia of the iris, Hydronephrosis, Sclerocornea,... |
OMIM:613001 |
| Gm1-Gangliosidosis, Type Iii |
|
Pes cavus, Opacification of the corneal stroma, Hypoplastic acetabulae, Flared iliac wing |
OMIM:230650 |
| Pseudo-Torch Syndrome 1 |
|
High palate, Cataract, Microretrognathia, Umbilical hernia, Long philtrum, Opacification of the c... |
OMIM:251290 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Emphysema, Flexion contracture |
ORPHA:171719 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... |
ORPHA:98957 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Atelectasis, Recurrent lower respiratory tract infect... |
ORPHA:258 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Femoral bowing, Short l... |
ORPHA:140 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... |
OMIM:114290 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... |
OMIM:620233 |
| Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Ectopic kidney, Patent ductus... |
ORPHA:1519 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Narrow palate, Corneal opacity |
OMIM:620469 |
| Barber-Say Syndrome |
|
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Mandi... |
OMIM:209885 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal metacarpal morphology, Abnormal preputium morphology, Abnormal hip bone morphology, Fing... |
ORPHA:2907 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Aortic valve calcificatio... |
ORPHA:2072 |
| Proteus Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Abnormal lung lobation, Enlarged kidney, Bronchoge... |
ORPHA:744 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Atelectasis, Retinal arterial tortuosity, Cerebral calcification, Mandibular progn... |
OMIM:620371 |
| Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... |
ORPHA:83461 |
| Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis |
OMIM:266270 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
| Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
| Mucopolysaccharidosis Type 3 |
|
Reduced bone mineral density, Genu valgum, Craniofacial hyperostosis, Inguinal hernia, Corneal op... |
ORPHA:581 |
| Ablepharon Macrostomia Syndrome |
|
Thin vermilion border, Corneal erosion, Hypoplasia of penis, Corneal opacity, Microdontia, Omphal... |
ORPHA:920 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atelectasis, Persistent left superior vena cava, Pulmonary artery stenosis, Bronchiectasis, Recur... |
OMIM:615067 |
| Lathosterolosis |
|
Talipes, Hypoplasia of penis, Gingival overgrowth, Microcornea, Postaxial hand polydactyly, High ... |
ORPHA:46059 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Agenesis of incisor, Widely spaced teeth, Hypospadias, Short philtrum, Patent ductus arteriosus, ... |
OMIM:619841 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hypoplastic iliac wing, Coxa vara, Hypoplasia of the capital femoral epiphys... |
OMIM:313400 |
| Orofaciodigital Syndrome Vi |
|
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... |
OMIM:277170 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phal... |
OMIM:236680 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lateral displacement of the femoral head, Astigmatism, Focal segmental glomeruloscler... |
OMIM:242900 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Tooth malposition, Omphalocele, Ureteral ste... |
OMIM:309350 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,... |
OMIM:263650 |
| Roberts-Sc Phocomelia Syndrome |
|
Radial deviation of finger, Corneal opacity, Wrist flexion contracture, Short humerus, Absent thu... |
OMIM:268300 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Corneal opacity, Malar flattening |
ORPHA:28378 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, P... |
OMIM:612109 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Arachnodactyly, Hernia, Hypospadias, Sh... |
ORPHA:280 |
| Hurler Syndrome |
|
Abnormal diaphysis morphology, Corneal opacity, Everted lower lip vermilion, Mucopolysacchariduri... |
ORPHA:93473 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Mucopolysacchariduria, Broad thumb, Hypoplastic vertebral bodies, Broad hallux |
OMIM:272200 |
| Marfan Syndrome |
|
Retrognathia, High, narrow palate, Abnormal zygomatic bone morphology, Emphysema, Dilatation of a... |
ORPHA:558 |
| Peters Plus Syndrome |
|
Ureteral duplication, Corneal opacity, Wide mouth, Umbilical hernia, Long philtrum, Anterior cham... |
ORPHA:709 |
| Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis |
ORPHA:70589 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Multiple lipomas, Emphysema, Pulmonary sequestration |
ORPHA:122 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Gomez-Lopez-Hernandez Syndrome |
|
Thin vermilion border, High palate, Malar flattening, Smooth philtrum, Craniosynostosis, Opacific... |
OMIM:601853 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cheilitis, Hydroureter, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptoda... |
ORPHA:2273 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Retrognathia, Scarring, Pulmonary artery aneurysm, Emphysema, Ar... |
OMIM:614437 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Astigmatism, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Co... |
ORPHA:464311 |
| Kinsship Syndrome |
|
Dislocated radial head, Mesomelia, Wide mouth, Coxa valga, Hip dislocation, Polydactyly, Fibular ... |
OMIM:619297 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Dental crowding, Arachnodactyly, Paranasal sinus hypoplasia, Bifid uv... |
OMIM:300373 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Rocker bottom foot, High, narrow palate, Hypospadias, Epiphyseal stippling, Ulnar deviation of th... |
OMIM:214100 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umb... |
OMIM:304120 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Calcification of cartilage, Recurrent pneumonia, Pneumonia, Recurrent re... |
ORPHA:3348 |
| Familial Dysautonomia |
|
Corneal erosion, Corneal opacity, Heterochromia iridis, Renal insufficiency, Abnormal pupil morph... |
ORPHA:1764 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Astigmatism, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypospadias,... |
ORPHA:464306 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Corneal opacity, Lipodystrophy, Multiple lipomas, Osteolysi... |
ORPHA:2396 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Inguinal hernia, Bronchiectasis, Uterine prolapse, Long philtrum, Peripheral pulmonary... |
OMIM:123700 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Autoamputation of digits, Kerat... |
OMIM:256800 |
| Proboscis Lateralis |
|
Orofacial cleft, Abnormal ethmoid bone morphology, Agenesis of canine, Abnormal facial skeleton m... |
ORPHA:141099 |
| Neonatal Marfan Syndrome |
|
Lipoatrophy, High, narrow palate, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneury... |
ORPHA:284979 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... |
ORPHA:91495 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... |
OMIM:618913 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Retrognathia, Corneal opacity, Hypoplastic vertebral bodies, Short humerus, Long toe... |
ORPHA:3455 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Ectopic calcification, Pul... |
ORPHA:2357 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Pulmonary hypoplasia, Knee flexion contracture, Bronchiectasis, Interstitial emphys... |
OMIM:619708 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... |
ORPHA:60033 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Camurati-Engelmann Disease |
|
Abnormal subcutaneous fat tissue distribution, Abnormal femur morphology, Abnormal tibia morpholo... |
ORPHA:1328 |
| Meier-Gorlin Syndrome 1 |
|
Emphysema, High palate, Narrow mouth, Microdontia, Camptodactyly, Hypoplasia of the maxilla, Micr... |
OMIM:224690 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ... |
OMIM:208500 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Megalocornea, Congenital contracture, Cleft upper lip, Micrognathia, Cleft palat... |
OMIM:236670 |
| Acute Interstitial Pneumonia |
|
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... |
ORPHA:79126 |
| Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Postaxi... |
ORPHA:2753 |
| Marfan Syndrome |
|
Narrow palate, Retrognathia, Pneumothorax, Emphysema, Aortic root aneurysm, Dental crowding, Inci... |
OMIM:154700 |
| Hutchinson-Gilford Progeria Syndrome |
|
Retrognathia, Reduced bone mineral density, Dental crowding, Corneal opacity, Limitation of movem... |
ORPHA:740 |
| Meckel Syndrome |
|
Ureteral duplication, Talipes, Microcornea, Aplasia/Hypoplasia of the iris, Postaxial hand polyda... |
ORPHA:564 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypospadias, Hypoplasia of penis, Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Galloway-Mowat Syndrome 1 |
|
Pes cavus, Hiatus hernia, High palate, Focal segmental glomerulosclerosis, Camptodactyly, Nephrot... |
OMIM:251300 |
| Fabry Disease |
|
Reduced bone mineral density, Hematuria, Abnormal femur morphology, Thick lower lip vermilion, Co... |
ORPHA:324 |
| Meier-Gorlin Syndrome 6 |
|
Emphysema, Cleft palate, Thick vermilion border, Microretrognathia, Umbilical hernia, Recurrent r... |
OMIM:616835 |
| Microphthalmia/Coloboma 12 |
|
Vesicoureteral reflux, Corneal opacity, Peters anomaly |
OMIM:120200 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Ventral h... |
ORPHA:2369 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... |
ORPHA:2302 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Ascending tubular aorta aneurysm, Bl... |
OMIM:219100 |
| Congenital Disorder Of Deglycosylation 1 |
|
3-Methylglutaconic aciduria, Corneal ulceration, Keratan sulfate excretion in urine, Corneal opac... |
OMIM:615273 |
| Digeorge Syndrome |
|
High, narrow palate, Right aortic arch with mirror image branching, Atelectasis, Unilateral renal... |
OMIM:188400 |
| Orofaciodigital Syndrome Xiv |
|
Epispadias, Supernumerary tooth, Micrognathia, Cleft palate, Lobulated tongue, Natal tooth, Micro... |
OMIM:615948 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissection, Aortic valve calcificati... |
ORPHA:402075 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Nonarteriosclerotic cerebral calcification, Emphysema, Cerebral berry aneurysm |
OMIM:210050 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... |
ORPHA:79127 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Corneal crystals, Proteinuria |
OMIM:219900 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Broad alveolar ridges, Flat acetabular roof, Decreased skull ossific... |
OMIM:216340 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... |
OMIM:612387 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Corneal opacity, Micrognathia, Cleft palate, Cataract, Multicysti... |
ORPHA:1052 |
| Alström Syndrome |
|
Detrusor sphincter dyssynergia, Urinary incontinence, Abnormality of dental color, Dysuria, Recur... |
ORPHA:64 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Multiple bladder diverticula, Vascular dilatation, Emphysema, Inguinal hernia, Vesi... |
ORPHA:90349 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Unilateral renal agenesis, Inguinal hernia, Genu recurvatum, Corneal opacity, Develop... |
ORPHA:90348 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Diaphyseal undertubulation, Inguinal hernia, Gingival overgrowth, Temporomandibular joint ankylos... |
ORPHA:217085 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... |
OMIM:106210 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Diaphyseal undertubulation, Inguinal hernia, Gingival overgrowth, Temporomandibular joint ankylos... |
ORPHA:217093 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Retrognathia, Thin vermilion border, Vesicoureteral reflux, High palate, Sclerocorne... |
OMIM:619869 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Hematuria, Emphysema, Atelectasis, Recurrent respiratory infections, Chylothorax, M... |
ORPHA:538 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Tented philtrum, Hypospadias, Corneal dystrophy, Corneal opacity, Renal cyst, Micrognathia, Long ... |
ORPHA:495875 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Zygomycosis |
|
Pneumothorax, Atelectasis, Renal insufficiency, Retinal arterial occlusion, Acute infectious pneu... |
ORPHA:73263 |
| Relapsing Polychondritis |
|
Large vessel vasculitis, Hematuria, Recurrent aphthous stomatitis, Vascular dilatation, Atelectas... |
ORPHA:728 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of the primary teeth, Vascular dilatation, Hypospadias, Downturned corners of mouth, U... |
OMIM:243800 |
| Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Epiphyseal stippling, Polycystic kidney dysplasia, High palate, Renal cyst, Camptoda... |
OMIM:614866 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... |
OMIM:610978 |
| Fryns Syndrome |
|
Rocker bottom foot, Long philtrum, Ureteral duplication, Hypospadias, Proximal placement of thumb... |
OMIM:229850 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Panniculitis, Bronchitis, Nephrotic syndrome, Bronchiectasis |
ORPHA:60 |
| Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Flexion contracture of digit, Gingival overgrowth, Temporomandibular joint ankyl... |
ORPHA:580 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Hypospadias, Chordee, Cleft palate, Sclerocornea, Cataract, Pete... |
OMIM:309801 |
| Viss Syndrome |
|
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cer... |
OMIM:619472 |
| Williams-Beuren Syndrome |
|
Microdontia, Nephrocalcinosis, Umbilical hernia, Urethral stenosis, Long philtrum, Inguinal herni... |
OMIM:194050 |
| Microphthalmia, Syndromic 1 |
|
Orofacial cleft, High, narrow palate, Hydroureter, Hypospadias, Tooth malposition, Dental crowdin... |
OMIM:309800 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Hematuria, Emphysema, Pleural effusion, Proteinuria, Renal insufficiency |
ORPHA:36412 |
| Netherton Syndrome |
|
Emphysema, Ectopic kidney, Hydronephrosis, Recurrent respiratory infections, Aminoaciduria |
ORPHA:634 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Hematuria, Keratoconjunctivitis, Furrowed tongue, Erythematous oral m... |
OMIM:158310 |
| Fraser Syndrome 1 |
|
Hypospadias, Aplasia/Hypoplasia of the thumb, Dental crowding, Corneal opacity, Renal hypoplasia,... |
OMIM:219000 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
| Charge Syndrome |
|
Absent tibia, Umbilical hernia, Bifid femur, Absent radius, Hypoplasia of the ulna, Hand monodact... |
OMIM:214800 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Proteinuria, Cerebral artery atherosclero... |
OMIM:209010 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Retrognathia, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Finger sy... |
OMIM:607932 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis |
ORPHA:2902 |
| Neurofibromatosis Type 1 |
|
Osteopenia, Genu valgum, Abnormal hip bone morphology, Slender long bone, Corneal opacity, Hetero... |
ORPHA:636 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Megalocornea, Congenital aphakia, Renal cyst, Cleft palate |
ORPHA:137675 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Mitral valve calci... |
ORPHA:363618 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphysema, Hyperc... |
OMIM:181000 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Delayed eruption of primary teeth |
OMIM:300952 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Thin vermilion border, Ischemic stroke, Emphysema, Unilateral renal agenesis, Short philtrum, Tra... |
ORPHA:500150 |
| Gaucher Disease |
|
Osteopenia, Hematuria, Increased bone mineral density, Abnormal bone structure, Gingival bleeding... |
ORPHA:355 |
| Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
| Wilson Disease |
|
Sunflower cataract, Increased urinary copper concentration, Chondrocalcinosis, Hypercalciuria, Ka... |
OMIM:277900 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Polycystic kidney dysplasia, Lo... |
ORPHA:3404 |
| Oculoectodermal Syndrome |
|
Astigmatism, Giant cell granuloma of mandible, Microcornea, Lower limb asymmetry, Bladder exstrop... |
OMIM:600268 |
| Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
| Sotos Syndrome |
|
Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia, Hypospadias, Inguina... |
ORPHA:821 |
| Congenital Tracheomalacia |
|
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch, Double aor... |
ORPHA:95430 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Hypospadias, Vesicoureteral reflux, Glossoptosis, High palat... |
ORPHA:444077 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Inguinal hernia, Cerebral calcification, H... |
OMIM:613658 |
| Norrie Disease |
|
Thin vermilion border, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, E... |
ORPHA:649 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Vertebral hypoplasia, Missing ribs, Sclerocornea, Cataract, Micropenis |
OMIM:206900 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Sarcoidosis |
|
Pneumothorax, Scarring, Emphysema, Hypercalciuria, Chylothorax, Parotitis, Pleural effusion, Neph... |
ORPHA:797 |
| Renal Nutcracker Syndrome |
|
Hematuria, Renal artery stenosis, Vulval varicose vein, Microscopic hematuria, Proteinuria, Dilat... |
ORPHA:71273 |
| Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Pterygium, Abnormality of the dentition, Conjunctival telangiectasia, ... |
ORPHA:910 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... |
OMIM:175780 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Atelectasis, Renal insufficiency, Microscopic hematuria |
ORPHA:319213 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Thick vermilion border, Telangiectasia of the oral mucosa, L... |
ORPHA:79280 |
| Grange Syndrome |
|
Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis, Coronary artery stenosis |
OMIM:602531 |
| 17Q11 Microdeletion Syndrome |
|
Abnormality of the sphenoid sinus, Stroke, Renal artery stenosis, Abnormal internal carotid arter... |
ORPHA:97685 |
| Common Variable Immunodeficiency |
|
Emphysema, Vasculitis, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory inf... |
ORPHA:1572 |
| Alagille Syndrome 1 |
|
Renal tubular acidosis, Stroke, Vesicoureteral reflux, Renal artery stenosis, Focal segmental glo... |
OMIM:118450 |
| Phace Syndrome |
|
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma |
ORPHA:42775 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Cerebral hemorrhage, Renal artery stenosis, Proteinuria |
OMIM:171300 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Cellulitis, Recurrent pneumonia, Atelectasis |
OMIM:306400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Everted lower lip vermilion, Megalocornea, Micrognathia, Malar flattening, Cataract,... |
OMIM:253280 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent corneal erosions, Corneal neovascularization, Unilateral renal agenesis, Hypospadias, I... |
OMIM:308205 |
| Nocardiosis |
|
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Cellulitis |
ORPHA:31204 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis |
OMIM:618278 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Hydronephrosis, Micropenis, Opacification of the corneal stroma, Multicystic ki... |
OMIM:615287 |
| Xq21 Microdeletion Syndrome |
|
Renal artery stenosis |
ORPHA:1435 |
| Neurofibromatosis, Type I |
|
Renal artery stenosis |
OMIM:162200 |
