| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... |
OMIM:617585 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Stimmler Syndrome |
|
Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology |
ORPHA:3199 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Severe short stature, Carious teeth, Flexion contracture... |
OMIM:203550 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Short stature |
ORPHA:2871 |
| 17Q11.2 Microduplication Syndrome |
|
Short stature, Abnormal dental enamel morphology, Thin vermilion border, Malar flattening, Enamel... |
ORPHA:139474 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Enamel hypoplasia |
ORPHA:79402 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Short stature, Microg... |
OMIM:618363 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Intrauterine growth retardation, Enamel hypoplasia, Severe short sta... |
ORPHA:2643 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... |
ORPHA:1946 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Enamel hyp... |
OMIM:226670 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Short stature |
ORPHA:71267 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Mulibrey Nanism |
|
Dental crowding, Short stature, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental maloc... |
OMIM:253250 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick... |
OMIM:309545 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Hypodontia |
OMIM:616029 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:612463 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Seckel Syndrome 5 |
|
Short stature, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hy... |
OMIM:613823 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Enamel hypoplasia |
ORPHA:79411 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia |
ORPHA:99329 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture, Short stature |
OMIM:270200 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... |
OMIM:618394 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Growth delay, Everted lower lip vermilion, Thick vermilion b... |
OMIM:619980 |
| Chromosome 4Q21 Deletion Syndrome |
|
Severe short stature, Postnatal growth retardation, Narrow mouth, Downturned corners of mouth, Sh... |
OMIM:613509 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Intraute... |
ORPHA:90322 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, Oligodontia, ... |
OMIM:619184 |
| Oculoskeletodental Syndrome |
|
Short stature, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrogn... |
ORPHA:557003 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathia, Postnatal g... |
OMIM:210600 |
| Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia |
OMIM:212780 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... |
ORPHA:763 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... |
ORPHA:98826 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Growth delay, Malar flattening, Short stature, Amelogenesis imperfecta |
OMIM:614727 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... |
OMIM:619293 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Short stature, Micrognathia, High palate, Narrow mouth, Malar flatteni... |
OMIM:613849 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
| Rapp-Hodgkin Syndrome |
|
Short stature, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insuffic... |
OMIM:129400 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature, Micrognathia, Hy... |
OMIM:170390 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted... |
ORPHA:1515 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Growth delay, Atrophic scars, Ke... |
ORPHA:79410 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Enamel hypoplasia |
ORPHA:79409 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Short stature, Hypoplasia of teeth |
OMIM:613312 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Dentinogenesis imperfecta |
ORPHA:166277 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Short stature, Bilateral cleft lip and palate, High palate, Malar flatt... |
OMIM:618874 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology |
ORPHA:2238 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Short stature, Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Camptodactyly |
ORPHA:88630 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... |
OMIM:619281 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Narro... |
OMIM:226600 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Proportionate short stature, Micrognathia, Hypop... |
ORPHA:391408 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Short stature, Dentinogenesis imperfecta |
ORPHA:166272 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Ohdo Syndrome |
|
Short stature, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Nar... |
OMIM:249620 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Osteogenesis Imperfecta, Type Xix |
|
Severe short stature, Rhizomelia, Dentinogenesis imperfecta |
OMIM:301014 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:612462 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
| Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology |
ORPHA:816 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Growth delay, Intrauterine growth retardation, Enamel hypoplasia, Retrognathia |
OMIM:614576 |
| Osteogenesis Imperfecta, Type Xxii |
|
Intrauterine growth retardation, Short stature, Dentinogenesis imperfecta |
OMIM:619795 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:103580 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... |
ORPHA:10 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Growth delay, Carious teeth |
OMIM:277440 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... |
ORPHA:50814 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Short stature, Micrognathia, Protruding tongue, Gingival over... |
OMIM:259775 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia... |
ORPHA:2728 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Short stature, Micrognathia, Hypoplasia of the maxill... |
OMIM:257850 |
| Osteogenesis Imperfecta, Type Ix |
|
Disproportionate short-limb short stature, Dentinogenesis imperfecta |
OMIM:259440 |
| Bone Marrow Failure Syndrome 3 |
|
Short stature, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdo... |
OMIM:617052 |
| Osteogenesis Imperfecta, Type V |
|
Short stature, Dentinogenesis imperfecta |
OMIM:610967 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Bifid uvula |
OMIM:615802 |
| Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Downturned corners o... |
ORPHA:2107 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
| Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Recurrent aphthous stomatitis, Delayed puberty, Stom... |
OMIM:212750 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Postnatal growth retardation, Short stature |
ORPHA:289157 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Growth delay |
OMIM:264700 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... |
OMIM:620250 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Cleidocranial Dysplasia 1 |
|
Short stature, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, nar... |
OMIM:119600 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Short stature, Hamartoma of tongue, Cleft upper lip, Carious... |
OMIM:311200 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Postnatal growth retardation, Disproportionate short stature, Microdontia, Intrauterine growth re... |
OMIM:210720 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
| Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the... |
ORPHA:1798 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename... |
ORPHA:1452 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Sanjad-Sakati Syndrome |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Pos... |
ORPHA:2323 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... |
ORPHA:1782 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Short stature, Postnatal growth retardation, High palate, Dentinogenesis imper... |
OMIM:616294 |
| Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Abnormal... |
ORPHA:3163 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
| Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... |
ORPHA:1458 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Short stat... |
ORPHA:2916 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Ena... |
OMIM:610965 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau... |
ORPHA:2050 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short stature, Mesomelic short stature, Long philtrum, Dentinogenesis ... |
OMIM:184260 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... |
ORPHA:3253 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Short stature, Delay... |
OMIM:216400 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short stature, Micrognathia, Grayish enamel, High, narrow palate, Supe... |
ORPHA:2980 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intrauterine growth retardation, Enamel hypoplasia |
OMIM:243150 |
| Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Gr... |
ORPHA:582 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Temtamy Syndrome |
|
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia |
OMIM:218340 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Micrognathia, Severe postnatal growth retardation, Delayed puberty, Contracture of... |
ORPHA:293967 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin... |
OMIM:248370 |
| Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Conical tooth |
OMIM:617475 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Short stature, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Short stature, Micrognathia, Abnormality of the dentition... |
OMIM:151050 |
| Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
| Osteogenesis Imperfecta, Type Iii |
|
Disproportionate short-limb short stature, Neonatal short-limb short stature, Dentinogenesis impe... |
OMIM:259420 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Respiratory failure, Myelo... |
ORPHA:3226 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... |
ORPHA:96264 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate,... |
OMIM:601701 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Carious teeth, Cleft palate, ... |
OMIM:607812 |
| Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum |
OMIM:312830 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
ORPHA:94089 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Moderate postnatal growth retardation, Intrauterine growth retardation, Severe short stature, Abn... |
ORPHA:1005 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... |
ORPHA:2751 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Growth delay, Delayed eruption of permanent teeth, Periodontitis, Pr... |
OMIM:619269 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Short stature, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:3220 |
| Koolen-De Vries Syndrome |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow pala... |
ORPHA:96169 |
| 3M Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Everted lower lip ve... |
ORPHA:2616 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Growth delay, Atrophic scars, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Costello Syndrome |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip v... |
ORPHA:3071 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Short stature, Velopharyngeal insufficiency, Submucous cleft hard palat... |
OMIM:614701 |
| Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Thin vermilion border, Long philtrum, Umbilical hernia, Dentinogenesis imperfecta |
OMIM:614856 |
| Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele, Short stature |
OMIM:600373 |
| Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Short stature, Micrognathia, Hypoplasia of the maxilla... |
OMIM:180849 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Severe short stature, Abnormal dental morphology, Delayed er... |
ORPHA:191 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
| Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Rhizomelia, High, narrow palate, High palate, Widely spaced teeth, Everted lower... |
OMIM:218330 |
| Seckel Syndrome |
|
Short stature, Abnormal dental enamel morphology, Micrognathia, Tooth agenesis, Intrauterine grow... |
ORPHA:808 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Severe short stature, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
ORPHA:79444 |
| Osteogenesis Imperfecta, Type Xi |
|
Short stature, Dentinogenesis imperfecta |
OMIM:610968 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening |
ORPHA:3258 |
| Relapsing Fever |
|
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia |
ORPHA:91547 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Selective tooth agen... |
ORPHA:2909 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
| Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon... |
ORPHA:1812 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Disproportionate short-trunk short stature, Cleft palate, Failure of eruption of... |
OMIM:272460 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma... |
ORPHA:861 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Pleural eff... |
OMIM:619644 |
| Cranioectodermal Dysplasia 3 |
|
Short stature, Rhizomelia, Micrognathia, Hypoplasia of teeth, Everted lower lip vermilion, Widely... |
OMIM:614099 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Disproportionate short-tru... |
OMIM:253000 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture, Mild postnatal growth retardation |
ORPHA:90324 |
| Osteogenesis Imperfecta, Type Iv |
|
Short stature, Dentinogenesis imperfecta |
OMIM:166220 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
| Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
ORPHA:79443 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Disproportionate short-tru... |
OMIM:253010 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Delayed puberty |
ORPHA:251004 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Micrognathia, Supernumerary toot... |
OMIM:268400 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Short stature, Rhizomelia, Micrognathia, Malar flattening, Dentinogenesis imperf... |
OMIM:613848 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m... |
ORPHA:85199 |
| Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, S... |
ORPHA:534 |
| Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Short stature, Congenital diaphragmatic ... |
OMIM:305600 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Inguinal hernia, Den... |
OMIM:619503 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:221016 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization, Short stature |
OMIM:307800 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Corneal scarring, Keloids, ... |
OMIM:309000 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... |
ORPHA:2092 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Severe short stature, Delayed eruptio... |
OMIM:133540 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:221008 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Carious teeth, Postnatal growth retardation, Atrophic ... |
ORPHA:536467 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
| Adult-Onset Still Disease |
|
Splenomegaly, Restrictive ventilatory defect, Leukocytosis, Neutrophilia |
ORPHA:829 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M... |
ORPHA:818 |
| Eec Syndrome |
|
Short stature, Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, T... |
ORPHA:1896 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental ena... |
ORPHA:2658 |
| Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Dentinogenesis imperfecta |
OMIM:616507 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology |
ORPHA:79404 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Disproportionate short stature, Enthesitis, Growth delay, Cellulitis, Tooth absc... |
ORPHA:89936 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
| Stickler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:828 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
| Osteogenesis Imperfecta, Type Viii |
|
Disproportionate short-limb short stature, Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
| Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari... |
ORPHA:2908 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Short stature, Abnormal ... |
ORPHA:666 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:567 |
| Tetrasomy 9P |
|
Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... |
OMIM:601803 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
| Proximal Renal Tubular Acidosis |
|
Growth delay, Enamel hypomineralization, Mild postnatal growth retardation, Short stature |
ORPHA:47159 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:79330 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microgn... |
ORPHA:2556 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
| Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:79430 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Dentinogenesis imperfecta, Long philtrum |
OMIM:610682 |
| Williams Syndrome |
|
Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Short stature, Mi... |
ORPHA:904 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation |
OMIM:620155 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia |
OMIM:618493 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failu... |
OMIM:182250 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Pleural effusion, Neutrophilia |
OMIM:249100 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Severe short stature, Camptodactyly of finger, Abnormal dental enam... |
ORPHA:2273 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Abnormal subcutaneous fat tissue distribution, ... |
ORPHA:744 |
| Prader-Willi Syndrome |
|
Hypoventilation |
OMIM:176270 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepa... |
ORPHA:731 |
| Johanson-Blizzard Syndrome |
|
Short stature, Agenesis of permanent teeth, Downturned corners of mouth, Severe intrauterine grow... |
OMIM:243800 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Asthma, Central hypoventilation, Cardiorespiratory arrest |
ORPHA:293987 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia |
ORPHA:438213 |
