Odontoma-Dysphagia Syndrome |
|
Dysphagia, Odontoma, Abnormal esophagus morphology |
OMIM:164330 |
Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Hartnup Disorder |
|
Glossitis, Short stature |
OMIM:234500 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Palmoplantar keratoderma, Abnormal esophagus physio... |
ORPHA:2198 |
Plummer-Vinson Syndrome |
|
Narrow mouth, Cheilitis, Esophageal web, Intra-oral hyperpigmentation, Glossitis, Geophagia, Tong... |
ORPHA:54028 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Dysphagia, Velopharyngeal insufficiency |
OMIM:617732 |
Catel-Manzke Syndrome |
|
Failure to thrive, Cleft palate, Short stature, Glossoptosis, Oral synechia |
ORPHA:1388 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate |
ORPHA:3104 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... |
ORPHA:411696 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
Visceral Myopathy 2 |
|
Hiatus hernia, Gastroesophageal reflux, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Dysphagia, Tongue atrophy |
ORPHA:496689 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Widely spaced teeth, Postnatal growth retardation, Microdontia, Intrauterine growth retardation |
OMIM:233810 |
Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Hyperkeratosis, Dysphagia, Microglo... |
ORPHA:530 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... |
OMIM:614669 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... |
OMIM:226600 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Growth delay, Gastroesophageal reflux, Cleft palate, Abnormality of the dentition, L... |
ORPHA:576283 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue, Truncal obesity, Short stature |
ORPHA:2928 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Narrow mouth, Decreased body weight, Gastroesophageal reflux, Abnormal esophag... |
ORPHA:89842 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... |
ORPHA:1876 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... |
ORPHA:353253 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Short stature, Abnormal esophagus morphology, Large for ... |
OMIM:613706 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate |
ORPHA:166100 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth |
OMIM:618732 |
Seckel Syndrome 2 |
|
Short stature, Small for gestational age, Microdontia, Growth delay, Microglossia |
OMIM:606744 |
Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis, Anorectal anomaly |
ORPHA:1839 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis |
OMIM:615190 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... |
OMIM:618779 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Growth delay, Intrauterine growth retardation |
OMIM:617341 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate |
OMIM:192445 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis |
OMIM:148500 |
Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Narrow mouth, Neonatal death, Small for gestational age |
OMIM:227270 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Postnatal growth retardation, Cleft palate, Small for gestational age,... |
ORPHA:96184 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Intrauterine growth retardation, Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
Wolman Disease |
|
Cachexia, Esophageal varix, Growth delay, Steatorrhea |
ORPHA:75233 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Tongue atrophy |
OMIM:158900 |
Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Failure to thrive, Cleft palate, Short sta... |
OMIM:277170 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Tongue atrophy |
ORPHA:216873 |
Temple Syndrome |
|
Postnatal growth retardation, Short stature, Small for gestational age, Bifid uvula, Polyphagia, ... |
ORPHA:254516 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Stomach cancer, Cachexia, Furrowed tongue, Intestinal polyposis, Colon cancer, Hyp... |
ORPHA:2930 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Tooth malposition, Everted lower lip vermilion, Short stature, Short philtrum, Furro... |
ORPHA:1387 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... |
ORPHA:884 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Short stature, Glossoptosis, Submucous cleft hard palate |
ORPHA:3201 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Pachyonychia Congenita 3 |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Gingivitis, Furrowed to... |
OMIM:615726 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Failure to thrive, Cleft palate |
OMIM:618356 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Short stature, Exaggerated... |
OMIM:300431 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal neoplasm, Failure to thrive, Gastroesophageal reflux, Morphological abnormality of the... |
ORPHA:1018 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia |
OMIM:277720 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Protruding tongue, Macroglossia |
OMIM:227250 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Inflammation of the large intestine, Enamel hypoplasia, Hyperkeratosis, Esopha... |
OMIM:614576 |
Solar Urticaria |
|
Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Anterior open-bite malocclusion, M... |
OMIM:602483 |
Barrett Esophagus |
|
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
OMIM:614266 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Esophageal atresia, Cleft palate, Small for gestational age |
ORPHA:95706 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue |
OMIM:617127 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300602 |
Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Weight loss, Macroglossia |
ORPHA:2221 |
Budd-Chiari Syndrome |
|
Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Esophageal varix, Gastrointes... |
ORPHA:131 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Short stature, Lobulated tongue, Hamartoma of... |
OMIM:258860 |
Hypoglossia With Situs Inversus |
|
High palate, Microglossia, Narrow mouth, Hypodontia |
OMIM:612776 |
Deafness-Craniofacial Syndrome |
|
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... |
ORPHA:3241 |
9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Postnatal growth retardation, Downturned corners of mouth, Gastrointe... |
ORPHA:531151 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastroi... |
OMIM:175500 |
Pontocerebellar Hypoplasia, Type 1B |
|
Growth delay, Tongue fasciculations, Tongue atrophy |
OMIM:614678 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Cleft palate, Short stature, Tracheoesophageal fistula, Obesity, Esophageal atresia |
ORPHA:3157 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Bilateral cleft lip, Ankyloglossia |
OMIM:618021 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Postnatal growth retardation, Intrauter... |
OMIM:616145 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Esophageal varix |
OMIM:232500 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Growth delay, Gastrointestinal inflam... |
ORPHA:79409 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules |
OMIM:258850 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Smooth philtrum, Cleft soft palate |
OMIM:614526 |
Kindler Syndrome |
|
Periodontitis, Carious teeth, Palmoplantar hyperkeratosis, Gingivitis, Anal stenosis, Esophageal ... |
OMIM:173650 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... |
ORPHA:137888 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Failure to thrive, Cleft palate, Thin vermilion border, Bifid uvula, P... |
OMIM:612938 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Cheilitis, Anoperineal fistula, Short stature, Abnormality of the dentition, C... |
ORPHA:158668 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Abnormality of the tongue, Malabsorption, Cheilitis, Short stature, Glossitis,... |
ORPHA:37 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Malabsorption, Macroglossia, Short stature, Protruding tongue |
OMIM:242860 |
Fanconi Anemia, Complementation Group Q |
|
Growth delay, Esophageal atresia, Anteriorly placed anus, Short stature |
OMIM:615272 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Short stature, Enamel hypoplasia, Dental crowding, Growth delay,... |
OMIM:253250 |
Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Esophageal atresia, Intrauterine growth retardation |
ORPHA:1923 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Short stature, Abnormality of the dentition, Palmoplantar hyperkeratosis, Esop... |
OMIM:613989 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Abnormal eating behavior, Widely spaced teeth, Protruding tongue, Dysphagia, Obesity |
ORPHA:411511 |
Systemic Sclerosis |
|
Narrow mouth, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett ... |
ORPHA:90291 |
Psoriasis 14, Pustular |
|
Furrowed tongue, Geographic tongue, Parakeratosis |
OMIM:614204 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Short philtrum, Downturned corners of mouth, Hyperkeratosis, Esophageal stenosis, Dysphagia, Acha... |
OMIM:615510 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth, Intrauterine growth retardation |
ORPHA:1972 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... |
OMIM:174300 |
Mcdonough Syndrome |
|
Dental malocclusion, Short philtrum, Short stature, Furrowed tongue |
OMIM:248950 |
Hartnup Disease |
|
Gingivitis, Glossitis, Malabsorption, Short stature |
ORPHA:2116 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate |
ORPHA:2001 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Failure to thrive, Short stature, Enamel hypoplasia, Bilateral cleft lip and palate,... |
OMIM:618874 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Short stature, Glossoptosis, Weight loss |
ORPHA:47 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... |
OMIM:200990 |
Carey-Fineman-Ziter Syndrome |
|
High palate, Growth delay, Aplasia/Hypoplasia of the tongue, Cleft palate, Short stature, Glossop... |
ORPHA:1358 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Short stature, Protruding tongue, Thick vermilion borde... |
OMIM:618106 |
Spinocerebellar Ataxia 36 |
|
Dysphagia, Tongue fasciculations, Tongue atrophy |
OMIM:614153 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Esophageal varix |
OMIM:619463 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Wide mouth, Gingival overgrowth, Failure to thrive, Everted lower lip vermilion, Thin vermilion b... |
OMIM:212066 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... |
OMIM:619227 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Esophageal atresia, Neonatal death, Short stature |
OMIM:619859 |
Tarp Syndrome |
|
High palate, Failure to thrive, Cleft palate, Glossoptosis, Tongue nodules, Intrauterine growth r... |
OMIM:311900 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Microglossia, Cleft palate |
OMIM:241800 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology |
ORPHA:252164 |
Down Syndrome |
|
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... |
ORPHA:870 |
Holzgreve Syndrome |
|
Bifid tongue, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Cleft palate, Stomatitis, Glossitis, Growth delay, Intrauterine growth retarda... |
ORPHA:79284 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, Delayed eruption of pri... |
OMIM:616367 |
Lelis Syndrome |
|
Furrowed tongue, Palmoplantar hyperkeratosis, Hypodontia, Carious teeth |
ORPHA:140936 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Colitis, Periodontitis, Premature loss of primary teeth, Inflammation of the large int... |
ORPHA:2908 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Rhizomelia, Cleft palate |
ORPHA:440354 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Wide mouth, Postnatal growth retardation, Gastroesophageal reflux, Esophagitis |
ORPHA:79350 |
Mohr Syndrome |
|
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Short stature, B... |
OMIM:252100 |
Spinocerebellar Ataxia Type 36 |
|
Dysphagia, Tongue fasciculations, Tongue atrophy |
ORPHA:276198 |
Mandibuloacral Dysplasia |
|
High palate, Dental crowding, Postnatal growth retardation, Abnormal tongue morphology, Hypoplasi... |
ORPHA:2457 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Cleft palate, Short stature, Microdontia, Microglossia |
ORPHA:1307 |
Feingold Syndrome |
|
Duodenal atresia, Short stature, Esophageal atresia, Oral cleft |
ORPHA:1305 |
Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Palmoplantar hyperkeratosis |
ORPHA:158673 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Glossitis, Cheilitis, Gastroesophageal reflux |
ORPHA:90045 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Wide mouth, Dysphagia, Protruding tongue |
ORPHA:98795 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip v... |
ORPHA:364577 |
Rhombencephalosynapsis |
|
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Esophageal atresia, Aganglionic megacolon |
ORPHA:59315 |
Trisomy 8Q |
|
High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral cleft, Abnormal oral f... |
ORPHA:1752 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow |
ORPHA:313892 |
Cowden Syndrome 5 |
|
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... |
OMIM:615108 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Failure to thrive, Decreased body weight, Short stature, Diastema, Furrowed tongue, ... |
OMIM:300534 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Enamel hypoplasia, Oral mucosal blisters, Esophageal atresia |
OMIM:226730 |
Developmental And Epileptic Encephalopathy 80 |
|
High palate, Wide mouth, Failure to thrive, Long philtrum, Protruding tongue, Tented upper lip ve... |
OMIM:618580 |
Melkersson-Rosenthal Syndrome |
|
Cheilitis, Macroglossia, Furrowed tongue |
ORPHA:2483 |
Odontoonychodermal Dysplasia |
|
Widely spaced primary teeth, Orthokeratosis, Hypodontia, Plantar hyperkeratosis, Agenesis of perm... |
OMIM:257980 |
Dyskeratosis Congenita |
|
Intrauterine growth retardation, Malabsorption, Periodontitis, Taurodontia, Hypodontia, Short sta... |
ORPHA:1775 |
Coach Syndrome 1 |
|
Wide mouth, Esophageal varix, Growth delay |
OMIM:216360 |
Icf Syndrome |
|
Malabsorption, Protruding tongue, Macroglossia, Short stature |
ORPHA:2268 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Short stature, Hepatocellular adenoma, Esophageal varix, Delayed... |
ORPHA:264580 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Arthrogryposis, Distal, Type 5D |
|
Furrowed tongue, Cleft palate, Short stature |
OMIM:615065 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatocellular carcinoma, Hepatocellular adenoma, Esophageal varix, Delayed pu... |
ORPHA:370 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Esophageal varix |
ORPHA:367 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma |
ORPHA:64743 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Failure to thrive, Glossitis, Stomatitis, Thin upper lip vermilion |
OMIM:277380 |
Cohen Syndrome |
|
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Short... |
ORPHA:193 |
Cowden Syndrome 6 |
|
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... |
OMIM:615109 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Abnormal eating behavior, Widely spaced teeth, Protruding tongue, Dysphagia, Obesity |
ORPHA:98794 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... |
ORPHA:2752 |
Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Gingival overgrowth, Narrow mouth, Protruding tongue, Dysphagia |
OMIM:230600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Failure to thrive, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligod... |
OMIM:608670 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Deep philtrum, Esophageal atresia, Cleft palate, Short stature |
OMIM:610536 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Failure to thrive, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, ... |
ORPHA:2538 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Macroglossia, Short stature, Long philtrum, Protruding tongue, Dental crowding, Obesity |
OMIM:141750 |
Orofaciodigital Syndrome Type 6 |
|
High palate, Failure to thrive, Cleft palate, Short stature, Lobulated tongue, Hamartoma of tongu... |
ORPHA:2754 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Dysphagia, Tongue fasciculations, Tongue atrophy |
OMIM:211530 |
Hypomandibular Faciocranial Dysostosis |
|
Aglossia, Pursed lips |
OMIM:241310 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Esophageal varix, Steatorrhea |
OMIM:278000 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Gingival overgrowth, Short stature, Long philtrum, Protruding tongue |
OMIM:619179 |
Ramos-Arroyo Syndrome |
|
Narrow mouth, Decreased body weight, Severe short stature, Severe failure to thrive, Xerostomia, ... |
ORPHA:1051 |
Carey-Fineman-Ziter Syndrome 1 |
|
High palate, Failure to thrive, Growth delay, Gastroesophageal reflux, Cleft palate, Glossoptosis... |
OMIM:254940 |
Caroli Disease, Isolated |
|
Esophageal varix |
OMIM:600643 |
Gracile Bone Dysplasia |
|
Failure to thrive, Ankyloglossia, Short stature |
OMIM:602361 |
Ritscher-Schinzel Syndrome 2 |
|
Growth delay, Short philtrum, Protruding tongue |
OMIM:300963 |
Hypoglossia-Hypodactylia |
|
Microglossia, Narrow mouth, Aglossia |
OMIM:103300 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Growth delay, Esoph... |
OMIM:300514 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Esophageal varix, Neonatal death |
OMIM:263200 |
Bazex Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix |
ORPHA:974 |
Agnathia-Otocephaly Complex |
|
Aglossia, Microglossia, Narrow mouth, Cleft palate |
OMIM:202650 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Esophageal atresia, Growth delay |
ORPHA:77298 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Macroglossia, Oligodontia,... |
ORPHA:453499 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Persistence of primary teeth, Gastroesophageal reflux, Macroglossia... |
OMIM:610253 |
Trisomy 18 |
|
Anal atresia, Narrow mouth, Narrow palate, Intrauterine growth retardation, Cleft palate, Short s... |
ORPHA:3380 |
Marshall-Smith Syndrome |
|
Failure to thrive, Gingival overgrowth, Protruding tongue, Open mouth |
ORPHA:561 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Cleft l... |
OMIM:617925 |
Rabson-Mendenhall Syndrome |
|
High palate, Gingival overgrowth, Polydipsia, Macroglossia, Short stature, Severe postnatal growt... |
ORPHA:769 |
Hypoglossia-Hypodactyly Syndrome |
|
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... |
ORPHA:989 |
Mirage Syndrome |
|
Decreased body weight, Gastroesophageal reflux, Short stature, Esophageal stricture, Achalasia, I... |
OMIM:617053 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Glossoptosis, Carious teeth |
ORPHA:93346 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Oral cl... |
ORPHA:958 |
Distal Monosomy 12Q |
|
Growth delay, Duodenal atresia, Supernumerary tooth, High, narrow palate, Short stature, Long phi... |
ORPHA:96149 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Narrow mouth, Gastroesophageal reflux, Short stature, Protruding tongue, Thick... |
OMIM:608779 |
Pitt-Hopkins-Like Syndrome 2 |
|
Gastroesophageal reflux, Wide mouth, Protruding tongue |
OMIM:614325 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Disproportionate short stature, Bifid uvula, Cleft palate |
ORPHA:1427 |
Myopathy, Myofibrillar, 7 |
|
Dysphagia, Tongue atrophy |
OMIM:617114 |
Moebius Syndrome |
|
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... |
ORPHA:570 |
Hereditary Acrokeratotic Poikiloderma |
|
Narrow mouth, Open bite, Short stature, Abnormality of the dentition, Xerostomia, Premature loss ... |
ORPHA:2907 |
Orofaciodigital Syndrome I |
|
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Short... |
OMIM:311200 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Cerebrocostomandibular Syndrome |
|
High palate, Gastroesophageal reflux, Glossoptosis, Abnormality of the dentition, Short hard pala... |
OMIM:117650 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia, Microdontia, Carious teeth |
OMIM:224230 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula, Esophageal atr... |
ORPHA:87 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Obesity |
OMIM:105830 |
Progeroid Short Stature With Pigmented Nevi |
|
Hypodontia, Short stature, Small for gestational age, Irregular dentition, Esophageal ulceration,... |
OMIM:176690 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue, Impaired oropharyngeal swallow response |
ORPHA:53351 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Anal atresia, Cleft palate, Short stature, Intestinal malrotation, Bifid tongue,... |
OMIM:613091 |
Cowden Syndrome 1 |
|
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... |
OMIM:158350 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Growth delay, Macroglossia, Everted lower lip vermilion, Downturned corners of... |
ORPHA:96147 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Weight loss, Failure to thrive, Angular cheilitis |
ORPHA:35858 |
Cleidocranial Dysplasia |
|
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... |
ORPHA:1452 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Hyperkeratosis, Oral leukoplakia, Microdontia |
OMIM:148210 |
Ring Chromosome 22 Syndrome |
|
Thick vermilion border, Growth delay, Protruding tongue |
ORPHA:1446 |
Hardikar Syndrome |
|
Failure to thrive, Hematemesis, Short stature, Intestinal malrotation, Bilateral cleft lip and pa... |
OMIM:301068 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Failure to thrive, Cleft ... |
ORPHA:861 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Short stature |
ORPHA:2031 |
Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Intrauterine growth retardation, Short stature, Tracheoesophageal fistula, Bifid uvul... |
OMIM:301030 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:1790 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Slender build, Failure to thrive, Gastroesophageal reflux, Small for gestational age... |
OMIM:613658 |
Immunodeficiency 23 |
|
High palate, Failure to thrive, Esophageal stricture |
OMIM:615816 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
Cartilage-Hair Hypoplasia |
|
Malabsorption, Neonatal short-limb short stature, Anal stenosis, Esophageal atresia, Aganglionic ... |
OMIM:250250 |
Feingold Syndrome 1 |
|
High palate, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal fistula, Thick verm... |
OMIM:164280 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Short stature, Agenesis... |
OMIM:616894 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Rhizomelia, Natal tooth |
OMIM:616300 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Stevens-Johnson Syndrome |
|
Esophageal stricture, Acantholysis, Dysphagia, Gastrointestinal hemorrhage, Weight loss |
ORPHA:36426 |
Juvenile Sialidosis Type 2 |
|
Dysphagia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Tarp Syndrome |
|
Alveolar ridge overgrowth, Failure to thrive, Cleft palate, Glossoptosis, Abnormal duodenum morph... |
ORPHA:2886 |
Angelman Syndrome |
|
Wide mouth, Gastroesophageal reflux, Delayed menarche, Abnormality of the gastrointestinal tract,... |
ORPHA:72 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent gastroenteritis, Premature loss of teeth, Gingival overgrowth, Narrow palate, Failure t... |
ORPHA:99843 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Abnormal esophagus morphology, Esophageal stricture, Esophag... |
ORPHA:99921 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Growth delay, Narrow mouth, Oral mucosal blisters, Gastroesophageal reflux, Carious teeth, Esopha... |
ORPHA:79408 |
Maternal Phenylketonuria |
|
High palate, Intrauterine growth retardation, Esophageal atresia, Long philtrum |
ORPHA:2209 |
Fanconi Anemia, Complementation Group L |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Esophageal atresia, Growth delay, Intraute... |
OMIM:614083 |
Caroli Disease |
|
Cholangiocarcinoma, Weight loss, Esophageal varix |
ORPHA:53035 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Growth delay, Gastroesophageal reflux, Macroglossia, Diastema, Prot... |
OMIM:301040 |
Fryns Syndrome |
|
Cleft upper lip, Wide mouth, Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal... |
OMIM:229850 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
Kinsship Syndrome |
|
Wide mouth, Gingival overgrowth, Failure to thrive, Gastroesophageal reflux, Short stature, Short... |
OMIM:619297 |
Autosomal Recessive Robinow Syndrome |
|
Ectopic anus, Wide mouth, Gingival overgrowth, Disproportionate short-limb short stature, Supernu... |
ORPHA:1507 |
Adams-Oliver Syndrome 5 |
|
Esophageal varix |
OMIM:616028 |
Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid ... |
OMIM:101200 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Short stature, Microdon... |
OMIM:259775 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Classic Homocystinuria |
|
High palate, Gastrointestinal hemorrhage, Esophageal varix, Dental crowding |
ORPHA:394 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... |
OMIM:616078 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Cowden Syndrome |
|
High palate, Failure to thrive, Macroglossia, Short stature, Furrowed tongue, Colorectal polyposi... |
ORPHA:201 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Growth delay, Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Palmopl... |
ORPHA:79396 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Smooth philtrum, Everted lower lip vermilion |
ORPHA:324410 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shorte... |
ORPHA:2839 |
Chand Syndrome |
|
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... |
ORPHA:1401 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Growth delay, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Growth delay, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, ... |
ORPHA:352665 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Glossoptosis, High, narrow palate, Cleft palate |
ORPHA:436003 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Narrow mouth |
ORPHA:990 |
Robinow Syndrome |
|
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... |
ORPHA:97360 |
Opitz Gbbb Syndrome |
|
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Short stature, Tracheoesophage... |
ORPHA:2745 |
Feingold Syndrome Type 1 |
|
Anal atresia, Duodenal atresia, Short stature, Gastrointestinal atresia, Jejunal atresia, Esophag... |
ORPHA:391641 |
Autosomal Dominant Cerebellar Ataxia |
|
Tongue fasciculations, Hyperkeratosis, Pseudobulbar paralysis, Tongue atrophy |
ORPHA:99 |
Cerebrocostomandibular Syndrome |
|
Cleft palate, Short stature, Glossoptosis, Short hard palate, Intrauterine growth retardation |
ORPHA:1393 |
Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Neonatal death, Lobulated tongue, Hamartoma of tongue, Median cleft lip a... |
OMIM:269860 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... |
ORPHA:2750 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Short stature, Pyloric stenosis, Growth delay, A... |
ORPHA:261330 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Failure to thrive, Short stature, Long philtrum, Ankyloglossia, Intrauterine growth ... |
ORPHA:250989 |
Distal Monosomy 15Q |
|
Failure to thrive, Growth delay, Cleft palate, Small for gestational age, Short stature, Abnormal... |
ORPHA:1596 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Steatorrhea, Cachexia, Esophageal varix, Weight loss |
ORPHA:275761 |
Otopalatodigital Syndrome Type 2 |
|
Anodontia, Narrow mouth, Failure to thrive, Cleft palate, Glossoptosis, Oligodontia, Pierre-Robin... |
ORPHA:90652 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Growth delay, Cleft palate, Disproportionate short-trunk short stature |
ORPHA:94068 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Short stature, Abnormality of the dentition, Anteriorly placed anus, Microglos... |
OMIM:151050 |
Gabriele-De Vries Syndrome |
|
High palate, Intrauterine growth retardation, Oral-pharyngeal dysphagia, Small for gestational ag... |
ORPHA:506358 |
Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Gingival overgrowth, Narrow palate, Persistence of primary teeth, Triangular mouth, ... |
OMIM:180700 |
Hallermann-Streiff Syndrome |
|
Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow palate, Glossoptosis, ... |
ORPHA:2108 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Decreased body weight, Gastroesophageal reflux, Macroglossia, Protruding tongue, Open mouth, Dysp... |
ORPHA:258 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Failure to thrive, High, narrow palate, Macroglossia, Protruding tongue, Dysphagia |
OMIM:214100 |
Senior-Boichis Syndrome |
|
Polydipsia, Esophageal varix |
ORPHA:84081 |
Autosomal Recessive Polycystic Kidney Disease |
|
Growth delay, Cholangiocarcinoma, Polydipsia, Hepatoblastoma, Protein-losing enteropathy, Esophag... |
ORPHA:731 |
Vacterl With Hydrocephalus |
|
Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Intrauterine growth retardation |
ORPHA:3412 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Cleft palate, Everted lower lip vermilion, Short philtrum, Furrowed tongue, ... |
ORPHA:464738 |
Pachyonychia Congenita |
|
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... |
ORPHA:2309 |
Cousin Syndrome |
|
Alveolar ridge overgrowth, Cleft palate, Rhizomelia, Microglossia, Disproportionate short stature |
OMIM:260660 |
Autosomal Dominant Robinow Syndrome |
|
Anodontia, Gingival overgrowth, Supernumerary tooth, High, narrow palate, Hypodontia, Open bite, ... |
ORPHA:3107 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Wide mouth, Failure to thrive, Gastroesophageal reflux, High, narrow palate, Cleft palate, Short ... |
OMIM:619950 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Esophageal varix |
ORPHA:774 |
Giant Cell Arteritis |
|
Glossitis, Gastrointestinal infarctions, Weight loss |
ORPHA:397 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... |
OMIM:265380 |
Marshall-Smith Syndrome |
|
High palate, Failure to thrive, Gingival overgrowth, Decreased body weight, Short mandibular rami... |
OMIM:602535 |
Stickler Syndrome |
|
Cleft upper lip, Slender build, Tooth agenesis, Gastroesophageal reflux, Cleft palate, Open bite,... |
ORPHA:828 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Gingival overgrowth, Triangular mouth, Macroglossia, Short stature, Bifid tongue, Lon... |
OMIM:268310 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
Fanconi Anemia, Complementation Group D2 |
|
Tracheoesophageal fistula, Short stature, Esophageal atresia, Small for gestational age |
OMIM:227646 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Esophageal varix, Oral ulcer, Aphthous ulcer |
OMIM:615688 |
Wilson Disease |
|
Dysphagia, Hepatocellular carcinoma, Esophageal varix |
OMIM:277900 |
Pallister-Hall Syndrome |
|
Cleft upper lip, Anal atresia, Cleft palate, Short stature, Neonatal death, Anteriorly placed anu... |
OMIM:146510 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Gastroesophageal reflux, Cl... |
ORPHA:818 |
Charcot-Marie-Tooth Disease Type 4C |
|
Failure to thrive, Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy |
ORPHA:99949 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Duodenal atresia, Gastroesophageal reflux, Short stature, Furrowed tongue, Cleft lip... |
OMIM:616975 |
Developmental And Epileptic Encephalopathy 100 |
|
High palate, Gingival overgrowth, Gastroesophageal reflux, Microdontia, Enamel hypoplasia, Protru... |
OMIM:619777 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Short stature, Thin vermilion border, Carious teeth, Smooth tongue, Dysphagia |
OMIM:601559 |
Glucagonoma |
|
Steatorrhea, Abnormal gastrointestinal motility, Intestinal obstruction, Stomatitis, Glossitis, G... |
ORPHA:97280 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Delayed puberty, Growth delay, Gastric ulcer |
ORPHA:2072 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Esophageal atresia, Short stature |
OMIM:206900 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Stomatitis, Glossitis, Growth delay, Intrauterine growth retardation, Smooth p... |
ORPHA:79282 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protruding tongue, Disproportionate short-trunk short stature |
OMIM:200600 |
Hepatocellular Carcinoma |
|
Weight loss, Esophageal varix, Abnormal rectum morphology |
ORPHA:88673 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis |
ORPHA:480520 |
Dyskeratosis Congenita, X-Linked |
|
Premature loss of teeth, Intrauterine growth retardation, Short stature, Anal mucosal leukoplakia... |
OMIM:305000 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Cleft palate, Short stature, Downturned corners of mouth, Ankyloglossia, Intrauterine growth reta... |
ORPHA:488642 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Congenital Tracheomalacia |
|
Gastroesophageal reflux, Tracheoesophageal fistula, Failure to thrive, Esophageal atresia |
ORPHA:95430 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Gastroesophageal reflux, Macroglossia, Sho... |
OMIM:309580 |
Fontaine Progeroid Syndrome |
|
Failure to thrive, Narrow mouth, Gastroesophageal reflux, High, narrow palate, Everted lower lip ... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Intestinal malrotation, Hamartoma of tongue, Median cleft lip, Microglossia |
OMIM:263520 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Narrow mouth, Failure to thrive, Agenesis of permanent teeth, Delayed er... |
OMIM:619503 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Failure to thrive, Esophageal stricture, Abnormal oral mucosa morphology, Enamel hypoplasia, Eros... |
ORPHA:79404 |
Vater/Vacterl Association |
|
Failure to thrive, Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Post... |
OMIM:192350 |
Agel Amyloidosis |
|
Xerostomia, Tongue atrophy |
ORPHA:85448 |
Yunis-Varon Syndrome |
|
Postnatal growth retardation, High, narrow palate, Severe failure to thrive, Short stature, Gloss... |
ORPHA:3472 |
Orofaciodigital Syndrome Xiv |
|
Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamartoma of tongue, Aplasia o... |
OMIM:615948 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Plantar hyperkeratosis, Oral leukoplakia |
OMIM:615735 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Protruding tongue |
OMIM:619580 |
Bilateral Perisylvian Polymicrogyria |
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Pseudobulbar paralysis, Gastroesophageal reflux, Protruding tongue, Dysphagia, Intrauterine growt... |
ORPHA:98889 |
Degcags Syndrome |
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High palate, Wide mouth, Failure to thrive, Hiatus hernia, Intestinal atresia, Gastroesophageal r... |
OMIM:619488 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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High palate, Gastroesophageal reflux, Macroglossia, Short stature, Glossoptosis, Long philtrum, D... |
ORPHA:444077 |
Meckel Syndrome, Type 1 |
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Cleft upper lip, Wide mouth, Anal atresia, Cleft palate, Intestinal malrotation, Lobulated tongue... |
OMIM:249000 |
Multiple Endocrine Neoplasia Type 2 |
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Neoplasm of the liver, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology, A... |
ORPHA:653 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Anal atresia, Ectopic anus, Disproportionate short-limb short stature, Bifid ton... |
ORPHA:93271 |
Okamoto Syndrome |
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Gastroesophageal reflux, Cleft palate, Open bite, Intestinal malrotation, Severe postnatal growth... |
ORPHA:2729 |
Blomstrand Lethal Chondrodysplasia |
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Neonatal short-limb short stature, Long philtrum, Rhizomelia, Protruding tongue, Natal tooth |
ORPHA:50945 |
Joubert Syndrome 1 |
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Triangular-shaped open mouth, Protruding tongue, Macroglossia |
OMIM:213300 |
Smith-Lemli-Opitz Syndrome |
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Failure to thrive, Gastroesophageal reflux, Cleft palate, Short stature, Intestinal malrotation, ... |
OMIM:270400 |
Orofaciodigital Syndrome Type 14 |
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Accessory oral frenulum, Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamar... |
ORPHA:434179 |
Down Syndrome |
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Anal atresia, Macroglossia, Short stature, Protruding tongue, Duodenal stenosis, Aganglionic mega... |
OMIM:190685 |
Viss Syndrome |
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High palate, Chronic gastritis, Failure to thrive, Gastroesophageal reflux, High, narrow palate, ... |
OMIM:619472 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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High palate, Failure to thrive, Intrauterine growth retardation, Decreased body weight, High, nar... |
OMIM:619475 |
Charge Syndrome |
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Cleft upper lip, Anal atresia, Duodenal atresia, Cleft palate, Tracheoesophageal fistula, Anal st... |
OMIM:214800 |
Fraser Syndrome |
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High palate, Anal atresia, Ectopic anus, Dental malocclusion, Cleft upper lip, Bifid tongue, Oral... |
ORPHA:2052 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Failure to thrive, Gastroesophageal reflux, Everted lower lip vermilion, Short stature, Neonatal ... |
OMIM:619534 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy |
ORPHA:466768 |
Microsporidiosis |
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Glossitis, Weight loss, Cachexia |
ORPHA:2552 |
Stüve-Wiedemann Syndrome |
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Abnormality of the dentition, Smooth tongue, Intrauterine growth retardation, Short stature |
ORPHA:3206 |
Meckel Syndrome |
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Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:564 |
Hutchinson-Gilford Progeria Syndrome |
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High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Severe failure to thrive, Th... |
ORPHA:740 |
Carney Complex |
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Neoplasm of the rectum, Esophageal neoplasm, Abdominal obesity, Abnormal hard palate morphology, ... |
ORPHA:1359 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Wide mouth, Short stature, Short philtrum, Widely spaced teeth, Ankyloglossia, Thin upper lip ver... |
OMIM:619841 |
Neuroocular Syndrome |
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Short stature, Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, In... |
OMIM:619539 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Supernumerary tooth |
OMIM:619525 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Wide mouth, Anal atresia, Dental malocclusion, Gingival overgrowth, Narrow palate, Cleft palate, ... |
OMIM:312870 |
Pallister-Hall Syndrome |
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Anal atresia, Accessory oral frenulum, Cleft palate, Short stature, Bifid uvula, Large for gestat... |
ORPHA:672 |
Kawasaki Disease |
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Glossitis, Cheilitis |
ORPHA:2331 |
Plague |
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Enterocolitis, Hematemesis, Inflammation of the large intestine, Glossitis, Chapped lip |
ORPHA:707 |
Microphthalmia, Syndromic 6 |
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High palate, Failure to thrive, Cleft palate, Bifid uvula, Microglossia |
OMIM:607932 |
Choreoacanthocytosis |
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Dysphagia, Weight loss, Protruding tongue |
ORPHA:2388 |
Alström Syndrome |
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Tooth agenesis, Gastroesophageal reflux, Short stature, Delayed menarche, Truncal obesity, Gingiv... |
ORPHA:64 |
Pachyonychia Congenita 4 |
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Palmoplantar keratoderma |
OMIM:615728 |