| Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
| Pemphigoid Gestationis |
|
Skin vesicle, Failure to thrive |
ORPHA:63275 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification |
OMIM:125420 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Palmoplantar erythema, Facial erythema, Striae distensae, Erythematous papule, Skin vesicle, Incr... |
ORPHA:64745 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... |
OMIM:618386 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
| Darier Disease |
|
Acrokeratosis, Plantar pits, Hypermelanotic macule, Anal mucosal leukoplakia, Macule, Skin vesicle |
ORPHA:218 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Milia, Hyperkeratotic papule, Localized skin lesion, Skin erosion, Enamel hypoplasia, Oral mucosa... |
ORPHA:79410 |
| Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle |
ORPHA:90000 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
| Primary Condylar Hyperplasia |
|
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... |
ORPHA:477781 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Dowling-Degos Disease |
|
Palmar pits, Hyperkeratotic papule, Anal margin squamous cell carcinoma, Hypopigmented macule, Hy... |
ORPHA:79145 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Pemphigus Foliaceus |
|
Erythema, Skin erosion, Scaling skin, Serpiginous cutaneous lesion, Abnormal oral mucosa morpholo... |
ORPHA:79481 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Microdontia, Selective tooth agenesis |
OMIM:617275 |
| Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
| Familial Benign Chronic Pemphigus |
|
Skin erosion, Erythema, Skin vesicle |
ORPHA:2841 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, ... |
ORPHA:257 |
| Dermatitis Herpetiformis |
|
Malabsorption, Erythema, Skin vesicle, Macule |
ORPHA:1656 |
| Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Skin vesicle |
ORPHA:254478 |
| Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... |
ORPHA:2972 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
| Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Erythema migrans, Skin vesicle, Oral mucosal blisters |
ORPHA:158681 |
| Dentinogenesis Imperfecta |
|
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... |
ORPHA:49042 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Iga Pemphigus |
|
Skin plaque, Skin erosion, Ulcerative colitis, Oral mucosal blisters, Annular cutaneous lesion, S... |
ORPHA:555905 |
| Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:3196 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormality of the dentition, Cleft palate, Delayed eruption of teeth, Skin vesicle, Gingivitis, ... |
ORPHA:2314 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Skin vesicle |
OMIM:613102 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death |
OMIM:301021 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Hennekam-Beemer Syndrome |
|
Erythema, Macule, Failure to thrive, Skin vesicle, Papule, Subcutaneous nodule |
ORPHA:2135 |
| Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Porphyria Variegata |
|
Milia, Skin erosion, Localized skin lesion, Skin vesicle |
ORPHA:79473 |
| Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
| Dyskeratosis Congenita |
|
Oral leukoplakia, Abnormality of the dentition, Esophageal stenosis, Malabsorption, Hypopigmented... |
ORPHA:1775 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
OMIM:226650 |
| Sweet Syndrome |
|
Skin nodule, Pyoderma gangrenosum, Erythematous papule, Skin vesicle, Erythematous plaque |
ORPHA:3243 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... |
OMIM:313500 |
| Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Premature loss of teeth, Severe periodontitis, Deep philtrum, Protruding tongue, Narrow palate, G... |
ORPHA:99843 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Glossoptosis |
OMIM:614876 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Neonatal death, Congenital pyloric atresia, Aplasia c... |
OMIM:619817 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Auriculocondylar Syndrome 2 |
|
Short mandibular rami, Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, D... |
OMIM:614669 |
| Lipoid Proteinosis |
|
High palate, Tongue nodules, Abnormal oral mucosa morphology, Microglossia, Abnormality of the gi... |
ORPHA:530 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Burning Mouth Syndrome |
|
Parageusia, Strawberry tongue, Xerostomia, Tongue pain, Abnormality of taste sensation, Abnormali... |
ORPHA:353253 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth, Micrognathia |
ORPHA:3145 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Auriculocondylar Syndrome 1 |
|
Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Glo... |
OMIM:602483 |
| Plummer-Vinson Syndrome |
|
Glossitis, Cheilitis, Intra-oral hyperpigmentation, Narrow mouth, Tongue atrophy, Pallor, Esophag... |
ORPHA:54028 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Open mouth, Downturned corners of mouth, Protruding tongue |
OMIM:618732 |
| Chikungunya |
|
Erythema, Gingival bleeding, Macule, Skin vesicle, Petechiae |
ORPHA:324625 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Short mandibular rami, Delayed eruption of teeth |
OMIM:141300 |
| Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
| Auriculocondylar Syndrome |
|
Periauricular skin pits, Bifid uvula, Difficulty in tongue movements, Cleft palate, Dental crowdi... |
ORPHA:137888 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Glossoptosis, Cleft palate |
ORPHA:166100 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, Enamel ... |
ORPHA:2919 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Long philtrum, Microglossia, Whistling appearance |
OMIM:277720 |
| Chronic Graft Versus Host Disease |
|
Erythema, Intermittent generalized erythematous papular rash, Skin vesicle, Skin ulcer, Weight loss |
ORPHA:99921 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Microglossia, Neonatal death |
OMIM:227270 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Everted lower lip vermilion, Cleft palate, Preauricular pit, Glossoptosis, Preau... |
OMIM:616367 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, Short philtrum |
ORPHA:1387 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Pierre-Robin sequence, Submucous cleft hard palate |
OMIM:192445 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Milia, Pyloric stenosis, Death in infancy, Enamel hypoplasia, Congenital localized absence of ski... |
OMIM:226700 |
| Solar Urticaria |
|
Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
| Bazex-Dupre-Christol Syndrome |
|
Milia, Furrowed tongue, Nevus |
OMIM:301845 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Downturned corners of mouth, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Deafness-Craniofacial Syndrome |
|
Abnormality of the dentition, Abnormal palate morphology, Short lingual frenulum, Bifid tongue, S... |
ORPHA:3241 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Open mouth, High palate, Glossoptosis, Pierre-Robin sequence, Thin upper lip vermilion |
OMIM:613604 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:620269 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental crowding, Dental malocclusion, Microglossia, Hypodontia, Nevus flammeus |
OMIM:253250 |
| Orofaciodigital Syndrome Xix |
|
High palate, Accessory oral frenulum, Microdontia, Tongue nodules, Narrow mouth, Narrow palate, D... |
OMIM:620107 |
| Hypoglossia With Situs Inversus |
|
Narrow mouth, High palate, Microglossia, Hypodontia |
OMIM:612776 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microglossia, Microdontia |
OMIM:606744 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Acrodermatitis Enteropathica |
|
Glossitis, Erythema, Malabsorption, Cheilitis, Dry skin, Abnormality of the tongue, Furrowed tong... |
ORPHA:37 |
| Pycnodysostosis |
|
Persistence of primary teeth, Delayed eruption of permanent teeth, Absent frontal sinuses, Narrow... |
OMIM:265800 |
| Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue, Tongue nodules |
OMIM:258850 |
| Orofaciodigital Syndrome V |
|
High palate, Bifid uvula, Ankyloglossia, Aganglionic megacolon, Cleft palate, Hamartoma of tongue... |
OMIM:174300 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Hamartoma of tongue, Lobulated tongue, Tongue... |
OMIM:258860 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Pallister-Hall-Like Syndrome |
|
Median cleft lip, Death in infancy, Microglossia, Cleft palate |
OMIM:241800 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Milia, Aplasia cutis congenita, Enamel hypoplasia, Oral mucosal blisters, Scarring alopecia of sc... |
ORPHA:79402 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Submucous cleft hard palate, Glossoptosis, Hypodontia, High, narrow palate |
ORPHA:3201 |
| Cronkhite-Canada Syndrome |
|
Colon cancer, Malabsorption, Stomach cancer, Hamartomatous polyposis, Hypogeusia, Furrowed tongue... |
ORPHA:2930 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Submucous cleft hard palate, Dental crowding, Protruding tongue, Few cafe-au-lait sp... |
OMIM:618106 |
| Treacher Collins Syndrome 1 |
|
Hypoplasia of the pharynx, Abnormal parotid gland morphology, Cleft palate, Narrow mouth, Preauri... |
OMIM:154500 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Erythema, Geographic tongue |
OMIM:614204 |
| Hereditary Acrokeratotic Poikiloderma |
|
Oral leukoplakia, Gingival bleeding, Abnormality of the dentition, Erythema, Hypopigmented skin p... |
ORPHA:2907 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Hartnup Disease |
|
Malabsorption, Glossitis, Hypopigmented skin patches, Gingivitis |
ORPHA:2116 |
| Acrocallosal Syndrome |
|
Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Smooth philtrum, Thin vermili... |
OMIM:200990 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit... |
ORPHA:1031 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Death in childhood, Bifid uvula, Protruding tongue, Cleft palate, Thin vermilion border, Alveolar... |
OMIM:612938 |
| Chand Syndrome |
|
Skin erosion, Agenesis of permanent teeth, Agenesis of maxillary incisor, Dry skin, Cleft palate,... |
ORPHA:1401 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| X-Linked Agammaglobulinemia |
|
Malabsorption, Glossoptosis, Skin ulcer, Hypopigmented skin patches |
ORPHA:47 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
| Trisomy 8Q |
|
High palate, Everted lower lip vermilion, Cleft palate, Non-midline cleft lip, Bifid tongue, Abno... |
ORPHA:1752 |
| Mandibuloacral Dysplasia |
|
High palate, Hypoplasia of teeth, Abnormal tongue morphology, Dental crowding, Thin skin |
ORPHA:2457 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
| Moebius Syndrome |
|
Open mouth, High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Death in infancy, Micr... |
ORPHA:570 |
| Odontoonychodermal Dysplasia |
|
Erythema, Widely spaced primary teeth, Conical incisor, Agenesis of permanent teeth, Palmoplantar... |
OMIM:257980 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High palate, Nevus flammeus of the forehead, Everted lower lip vermilion, Tented upper lip vermil... |
OMIM:616449 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Furrowed tongue, Gingival overgrowth |
ORPHA:1839 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology |
ORPHA:2759 |
| Down Syndrome |
|
Macroglossia, Anal atresia, Open mouth, Abnormality of the dentition, Microdontia, Aganglionic me... |
ORPHA:870 |
| Cowden Syndrome 5 |
|
High palate, Narrow mouth, Hamartomatous polyposis, Skin tags, Furrowed tongue, Colonic diverticula |
OMIM:615108 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate |
OMIM:618021 |
| Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Long philtrum, Glossoptosis, Thin ve... |
ORPHA:1358 |
| Orofaciodigital Syndrome I |
|
Milia, High palate, Agenesis of permanent teeth, Ankyloglossia, Enamel hypoplasia, Tongue nodules... |
OMIM:311200 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Cheilitis |
ORPHA:2483 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormality of the dentition, Abnormal palate morphology, Ankyloglossia, Sacral dimple, Death in ... |
ORPHA:1507 |
| Arthrogryposis, Distal, Type 5D |
|
Open mouth, Cleft palate, Narrow mouth, Tongue atrophy, Furrowed tongue |
OMIM:615065 |
| Mohr Syndrome |
|
High palate, Accessory oral frenulum, Cleft palate, Median cleft lip, Bifid tongue, Lobulated ton... |
OMIM:252100 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Milia, Skin erosion, Aplasia cutis congenita, Esophageal stenosis, Anal fissure, Ankyloglossia, E... |
ORPHA:89842 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Glossitis, Pallor |
ORPHA:90045 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Abnormality of canine, Cafe-au-lait spot, Everted lower lip vermilion, Cleft palate,... |
ORPHA:364577 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Death in infancy, Cleft palate, Narrow mouth |
ORPHA:1790 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Bilateral cleft lip and palate, Ankyloglossia, Enamel hypoplasia, Cafe-au-lait spot,... |
OMIM:618874 |
| Cowden Syndrome 6 |
|
High palate, Narrow mouth, Hamartomatous polyposis, Skin tags, Furrowed tongue, Colonic diverticula |
OMIM:615109 |
| Agnathia-Otocephaly Complex |
|
Aglossia, Narrow mouth, Microglossia, Cleft palate |
OMIM:202650 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Narrow palate, Dental crowding |
ORPHA:313892 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin, Gingival overgrowth, Wide mouth, Protruding tongue |
OMIM:618797 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Death in infancy, Protruding tongue, Tented upper lip vermilion, Long philtrum, Smoo... |
OMIM:618580 |
| Orofaciodigital Syndrome Type 1 |
|
Milia, High palate, Abnormality of the dentition, Odontogenic neoplasm, Dry skin, Accessory oral ... |
ORPHA:2750 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Downturned corners of mouth, Thin upper lip vermilion, Anal atresia, Hypoplasia of the pharynx |
ORPHA:3164 |
| Tarp Syndrome |
|
High palate, Cleft palate, Neonatal death, Glossoptosis, Tongue nodules, Meckel diverticulum |
OMIM:311900 |
| Marshall-Smith Syndrome |
|
Thin skin, Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Irregular dentition, Bifid uvula, Hamartoma of tongue, Lobulated to... |
ORPHA:2752 |
| Cowden Syndrome 1 |
|
Acrokeratosis, High palate, Narrow mouth, Hamartomatous polyposis, Skin tags, Furrowed tongue, Co... |
OMIM:158350 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Open mouth, High palate, Cafe-au-lait spot, Protruding tongue, Everted lower lip vermilion, Thin ... |
OMIM:617804 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Narrow mouth, Long philtrum, Glossoptosis, Smooth philtrum, Pierre-Rob... |
OMIM:611209 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Cleft palate, Narrow mouth, Microglossia |
ORPHA:1307 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue |
ORPHA:2001 |
| Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Microglossia |
ORPHA:1972 |
| Cohen Syndrome |
|
Open mouth, Abnormality of the dentition, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High,... |
ORPHA:193 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligodontia, High palate, Cafe-au-lait spot, Cleft palate, Everted lower lip vermilion, Tented up... |
OMIM:608670 |
| Hypomandibular Faciocranial Dysostosis |
|
Aglossia, Pursed lips |
OMIM:241310 |
| Hypoglossia-Hypodactyly Syndrome |
|
Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Death in infancy, C... |
ORPHA:989 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Cleft lip, Incomplete cleft of the upper lip, Cleft palate, Stillbirth, Hamartoma o... |
OMIM:616300 |
| Lelis Syndrome |
|
Furrowed tongue, Hypodontia, Carious teeth |
ORPHA:140936 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate |
ORPHA:2167 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Glossoptosis, Carious teeth |
ORPHA:93346 |
| Hypoglossia-Hypodactylia |
|
Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Milia, Erythema, Aplasia cutis congenita, Enamel hypoplasia, Oral mucosal blisters, Smooth tongue... |
ORPHA:79396 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| Frontorhiny |
|
Preauricular skin tag, Dermoid cyst, Bifid tongue, Cleft palate |
ORPHA:391474 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Agenesis of permanent teeth, Cleft lip, Sacral dimple, Cleft palate, Down... |
OMIM:616894 |
| Raine Syndrome |
|
High palate, Death in infancy, Microdontia, Enamel hypoplasia, Cleft palate, Protruding tongue, N... |
OMIM:259775 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Agel Amyloidosis |
|
Dry skin, Xerostomia, Tongue atrophy, Diffuse skin atrophy, Cutis laxa |
ORPHA:85448 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Open mouth, High palate, Ankyloglossia, Dental crowding, Narrow mouth, Narrow palate, Long philtr... |
OMIM:616078 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, High palate, Abnormality of the dentition, Dry skin, Dental crowding, Advanced erup... |
ORPHA:769 |
| Cleidocranial Dysplasia |
|
Abnormality of the dentition, Cleft palate, High, narrow palate, Supernumerary tooth, Glossoptosi... |
ORPHA:1452 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Open mouth, Diastema, Everted lower lip vermilion, Macrodontia, Protruding tongue, Long philtrum,... |
OMIM:212066 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Malabsorption, Xerostomia, Protein-losing enteropathy, Hamartomatous polyposis |
OMIM:175500 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Cheilitis, Scaling skin, Anoperineal fistula, Abnormal tongue morph... |
ORPHA:158668 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
| Treacher-Collins Syndrome |
|
High palate, Abnormality of the dentition, Tooth agenesis, Abnormality of dental morphology, Clef... |
ORPHA:861 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:98795 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Macroglossia, Oligodontia, Open mouth, High palate, Bifid uvula, Cleft palate, Downturned corners... |
ORPHA:453499 |
| Kinsship Syndrome |
|
Ankyloglossia, Widely spaced teeth, Sacral dimple, Death in infancy, Downturned corners of mouth,... |
OMIM:619297 |
| Ramos-Arroyo Syndrome |
|
Shoulder dimple, Xerostomia, Aganglionic megacolon, Narrow mouth, Long philtrum, Carious teeth, S... |
ORPHA:1051 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Diastema, Smooth philtrum, Furrowed tongue, Thin upper lip vermilion |
OMIM:300534 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Cleft palate, Hamartoma of tongue, Midline notch of upper alveolar ridge, Abnormal o... |
ORPHA:2754 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Nevus flammeus of the forehead, High, narrow palate, Everted lower lip vermilion, Cleft palate, T... |
ORPHA:464738 |
| Shprintzen Omphalocele Syndrome |
|
Anal atresia, Thin vermilion border, Hypoplasia of the pharynx |
OMIM:182210 |
| Kleefstra Syndrome 1 |
|
Macroglossia, Persistence of primary teeth, U-Shaped upper lip vermilion, Everted lower lip vermi... |
OMIM:610253 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Macroglossia, Protruding tongue |
OMIM:242860 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Glossitis, Pallor |
ORPHA:35858 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Macroglossia, Open mouth, Tooth agenesis, Bifid uvula, Abnormality of primary teeth, Exaggerated ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Macroglossia, Open mouth, Tooth agenesis, Bifid uvula, Abnormality of primary teeth, Exaggerated ... |
ORPHA:352665 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Narrow mouth, Smooth philtrum, Excessive wrinkled skin, Thic... |
OMIM:608779 |
| Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
| Stuve-Wiedemann Syndrome 1 |
|
Milia, Pursed lips, Death in infancy, Thin skin, Thin vermilion border, Carious teeth, Premature ... |
OMIM:601559 |
| Cowden Syndrome |
|
Macroglossia, High palate, Hypopigmented skin patches, Colorectal polyposis, Macule, Hamartomatou... |
ORPHA:201 |
| Orofaciodigital Syndrome Vi |
|
High palate, Accessory oral frenulum, Incomplete cleft of the upper lip, Cleft palate, Hamartoma ... |
OMIM:277170 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Macroglossia, High palate, Short hard palate, Short lingual frenulum, Persistence of primary teet... |
OMIM:180700 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Hypoplasia of teeth, Taurodontia, Talon cusp, Tongue nodules, Cleft palate, Peg-shap... |
ORPHA:2751 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Penetrating foot ulcers, Difficulty in tongue movements |
ORPHA:99956 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Orofaci... |
ORPHA:958 |
| Angelman Syndrome |
|
Macroglossia, Widely spaced teeth, Wide mouth, Protruding tongue |
OMIM:105830 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Open mouth, Eclabion, Excessive wrinkled skin, Ankyloglossia, Deep philtrum, Widely spaced teeth,... |
OMIM:619950 |
| Angelman Syndrome Due To A Point Mutation |
|
Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:411511 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the dentition, Dermal atrophy, Abnormality of the tongue, High, narrow palate, Nar... |
ORPHA:2108 |
| Autosomal Dominant Robinow Syndrome |
|
Oligodontia, Anodontia, Median cleft lip and palate, Sacral dimple, High, narrow palate, Downturn... |
ORPHA:3107 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Smooth philtrum, Everted lower lip vermilion |
ORPHA:324410 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Glossitis, Stomatitis, Tracheoesophageal fistula, Thin upper lip vermilion |
OMIM:277380 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Glossoptosis, High, narrow palate, Cleft palate |
ORPHA:436003 |
| Pachyonychia Congenita 3 |
|
Oral leukoplakia, Furrowed tongue, Chapped lip, Gingivitis |
OMIM:615726 |
| Icf Syndrome |
|
Malabsorption, Macroglossia, Protruding tongue |
ORPHA:2268 |
| Short-Rib Thoracic Dysplasia 12 |
|
Median cleft lip and palate, Neonatal death, Hamartoma of tongue, Median cleft lip, Natal tooth, ... |
OMIM:269860 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Death in infancy |
OMIM:602361 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Macroglossia, Delayed eruption of permanent teeth, Dental crowding, Tented upper lip vermilion, L... |
OMIM:268310 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Au-Kline Syndrome |
|
Oligodontia, Open mouth, High palate, Bifid uvula, Sacral dimple, Cleft palate, Downturned corner... |
OMIM:616580 |
| Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Petechiae, Protruding tongue |
ORPHA:93400 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, Death in childhood, High palate, Redundant neck skin, Protruding tongue, High, narr... |
OMIM:214100 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
| Marshall-Smith Syndrome |
|
Death in childhood, High palate, Eclabion, Irregular dentition, Anteriorly placed anus, Pyloric s... |
OMIM:602535 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Thick vermilion border |
ORPHA:1446 |
| Carey-Fineman-Ziter Syndrome 1 |
|
High palate, Cleft palate, Glossoptosis, Microglossia, Pierre-Robin sequence |
OMIM:254940 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Anal atresia, Cleft palate, Hamartoma of tongue, Bifid tongue, Intestinal malrotation, Cleft uppe... |
OMIM:613091 |
| Autosomal Dominant Cerebellar Ataxia |
|
Erythema, Tongue atrophy, Tongue fasciculations |
ORPHA:99 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Stomatitis, Cleft palate |
ORPHA:79284 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Tooth malposition, Ankyloglossia, Persistence of pri... |
ORPHA:97360 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Macroglossia, Downturned corners of mouth, Protruding tongue, Everted lower lip vermilion |
ORPHA:96147 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:98794 |
| Giant Cell Arteritis |
|
Glossitis, Skin ulcer |
ORPHA:397 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Microglossia |
ORPHA:990 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Diastema, U-Shaped upper lip vermilion, Protruding tongue, Thick vermilion border, ... |
OMIM:301040 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Oral leukoplakia, Furrowed tongue, Microdontia |
OMIM:148210 |
| Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Cerebrocostomandibular Syndrome |
|
High palate, Anteriorly placed anus, Short hard palate, Cleft lip, Cleft palate, Long philtrum, G... |
OMIM:117650 |
| Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Anodontia, Cleft palate, Narrow mouth, Glossoptosis, Pierre-Robin sequence |
ORPHA:90652 |
| Gm1-Gangliosidosis, Type Ii |
|
Narrow mouth, Gingival overgrowth, Protruding tongue |
OMIM:230600 |
| Ritscher-Schinzel Syndrome 2 |
|
High palate, Short philtrum, Intestinal malrotation, Protruding tongue |
OMIM:300963 |
| Opitz Gbbb Syndrome |
|
Anal atresia, High palate, Cleft lip, Ankyloglossia, Cleft palate, Preauricular pit, Long philtru... |
ORPHA:2745 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Glossoptosis, Short hard palate, Cleft palate |
ORPHA:1393 |
| Tarp Syndrome |
|
Tongue nodules, Cleft palate, Glossoptosis, Pierre-Robin sequence, Alveolar ridge overgrowth, Abn... |
ORPHA:2886 |
| Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Microglossia, Cleft palate |
ORPHA:2839 |
| Helsmoortel-Van Der Aa Syndrome |
|
Oligodontia, Ankyloglossia, Widely spaced teeth, Microdontia, Everted lower lip vermilion, Advanc... |
OMIM:615873 |
| Fontaine Progeroid Syndrome |
|
Oligodontia, Dermal translucency, Redundant skin, Anteriorly placed anus, Death in infancy, Micro... |
OMIM:612289 |
| Pallister-Hall Syndrome |
|
Anal atresia, Anteriorly placed anus, Cleft palate, Neonatal death, Microglossia, Natal tooth, Cl... |
OMIM:146510 |
| Smith-Lemli-Opitz Syndrome |
|
Tooth agenesis, Pyloric stenosis, Abnormality of dental morphology, Aganglionic megacolon, Cleft ... |
ORPHA:818 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Duodenal atresia, Cleft lip, Furrowed tongue, Multiple cafe-au-lait spots, Smooth ph... |
OMIM:616975 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Ankyloglossia, Cleft palate, High, narrow palate, Narrow mouth, Smooth philtrum... |
ORPHA:261330 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Anteriorly placed anus, Enamel hypoplasia, Cleft palate, Thin skin,... |
OMIM:151050 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Protruding tongue |
OMIM:200600 |
| Angelman Syndrome |
|
Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:72 |
| Multiple Endocrine Neoplasia Type 2 |
|
Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, P... |
ORPHA:653 |
| Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Erythematous oral mucosa |
OMIM:158310 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
| Developmental And Epileptic Encephalopathy 100 |
|
High palate, Enamel hypoplasia, Microdontia, Protruding tongue, Tented upper lip vermilion, Gingi... |
OMIM:619777 |
| Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
| Catel-Manzke Syndrome |
|
High palate, Bifid uvula, Cleft palate, Narrow mouth, Glossoptosis, Pierre-Robin sequence, Cleft ... |
OMIM:616145 |
| Distal Deletion 15Q |
|
Aplasia cutis congenita over the scalp vertex, Abnormality of the dentition, Cleft palate, Bifid ... |
ORPHA:1596 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Tongue fasciculations, Difficulty in tongue movements |
ORPHA:99949 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Milia, Aplasia cutis congenita, Anal fissure, Ankyloglossia, Enamel hypoplasia, Oral mucosal blis... |
ORPHA:79408 |
| Hutchinson-Gilford Progeria Syndrome |
|
High palate, Short lingual frenulum, Ankyloglossia, Hypermelanotic macule, Persistence of primary... |
ORPHA:740 |
| Stickler Syndrome |
|
Macroglossia, Tooth agenesis, Short hard palate, Cleft palate, Advanced eruption of teeth, Long p... |
ORPHA:828 |
| Glucagonoma |
|
Glossitis, Stomatitis, Steatorrhea, Intestinal obstruction, Necrolytic migratory erythema |
ORPHA:97280 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Long philtrum |
ORPHA:250989 |
| Yunis-Varon Syndrome |
|
Short upper lip, Redundant neck skin, Pyloric stenosis, Gingival recession, Broad secondary alveo... |
ORPHA:3472 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Hamartoma of tongue, Microglossia, Median cleft lip, Intestinal malrotation |
OMIM:263520 |
| Meckel Syndrome, Type 1 |
|
Anal atresia, Cleft palate, Smooth philtrum, Thin upper lip vermilion, Natal tooth, Lobulated ton... |
OMIM:249000 |
| Distal Deletion 12Q |
|
Esophageal atresia, Pyloric stenosis, Duodenal atresia, High, narrow palate, Supernumerary tooth,... |
ORPHA:96149 |
| Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Cleft palate, Hamartoma of tongue, Supernumerary tooth, Bifid tongue, Lo... |
ORPHA:434179 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glossitis, Smooth philtrum, Stomatitis |
ORPHA:79282 |
| Cousin Syndrome |
|
Alveolar ridge overgrowth, Microglossia, Cleft palate |
OMIM:260660 |
| Orofaciodigital Syndrome Xiv |
|
Anteriorly placed anus, Cleft lip, Cleft palate, Hamartoma of tongue, Supernumerary tooth, Bifid ... |
OMIM:615948 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High palate, Ankyloglossia, Broad philtrum, High, narrow palate, Short uvula, Smooth philtrum, Sh... |
OMIM:619475 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Macroglossia, High palate, Downturned corners of mouth, Long philtrum, Glossoptosis, Thin upper l... |
ORPHA:444077 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Ankyloglossia, Broad philtrum, Downturned corners of mouth, Preauricular pit, Cariou... |
OMIM:620186 |
| Fraser Syndrome |
|
Anal atresia, High palate, Death in infancy, Dental crowding, Dental malocclusion, Ectopic anus, ... |
ORPHA:2052 |
| Smith-Lemli-Opitz Syndrome |
|
Intestinal malrotation, Bifid uvula, Pyloric stenosis, Sacral dimple, Death in infancy, Aganglion... |
OMIM:270400 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Downturned corners of mouth, Cleft palate |
ORPHA:488642 |
| Degcags Syndrome |
|
High palate, Pyloric stenosis, Hiatus hernia, Jejunal atresia, Sacral dimple, Protruding tongue, ... |
OMIM:619488 |
| Okamoto Syndrome |
|
Open mouth, Redundant neck skin, Cleft palate, Tented upper lip vermilion, Downturned corners of ... |
ORPHA:2729 |
| Plague |
|
Glossitis, Inflammation of the large intestine, Localized skin lesion, Dry skin, Chapped lip, Ent... |
ORPHA:707 |
| Down Syndrome |
|
Macroglossia, Anal atresia, Redundant neck skin, Aganglionic megacolon, Protruding tongue, Duoden... |
OMIM:190685 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Thin upper lip vermilion, Protruding tongue |
OMIM:617062 |
| Carney Complex |
|
Neoplasm of the rectum, Multiple lentigines, Abnormal hard palate morphology, Neoplasm of the sto... |
ORPHA:1359 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Macroglossia, Open mouth, High palate, Short upper lip, Hypoplastic philtrum, U-Shaped upper lip ... |
OMIM:309580 |
| Kawasaki Disease |
|
Cheilitis, Glossitis, Palmoplantar erythema |
ORPHA:2331 |
| Blomstrand Lethal Chondrodysplasia |
|
Long philtrum, Natal tooth, Protruding tongue |
ORPHA:50945 |
| Microsporidiosis |
|
Glossitis, Skin nodule |
ORPHA:2552 |
| Meckel Syndrome |
|
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:564 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Macroglossia, Anal atresia, Submucous cleft lip, Cleft palate, Preauricular skin tag, Narrow pala... |
OMIM:312870 |
| Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition, Sacral dimple |
ORPHA:3206 |
| Viss Syndrome |
|
Macroglossia, High palate, Broad uvula, Bifid uvula, Duodenitis, High, narrow palate, Chronic gas... |
OMIM:619472 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ankyloglossia, Widely spaced teeth, Smooth philtrum, Short philtrum, Agenesis of incisor, Thin up... |
OMIM:619841 |
| Neuroocular Syndrome |
|
Ankyloglossia, Widely spaced teeth, Submucous cleft hard palate, Sacral dimple, Short uvula, Down... |
OMIM:619539 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue |
ORPHA:98889 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Anal atresia, Esophageal atresia, Long philtrum, Ectopic anus, Bifid tongue, Cleft upper lip |
ORPHA:93271 |
| Pallister-Hall Syndrome |
|
Anal atresia, Bifid uvula, Cleft lip, Accessory oral frenulum, Cleft palate, Microglossia, Natal ... |
ORPHA:672 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Ankyloglossia, Supernumerary tooth |
OMIM:619525 |
| Microphthalmia, Syndromic 6 |
|
High palate, Microglossia, Bifid uvula, Cleft palate |
OMIM:607932 |
| Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal oral mucosa morphology, Erosion of oral mucosa, Enamel hypoplasia |
ORPHA:79404 |
