Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
Cleft Velum |
|
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate, Oral-pharyngeal dysph... |
ORPHA:99772 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... |
ORPHA:2521 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Malar flattening |
OMIM:300850 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Narrow mouth, Pursed lips, Cleft palate, Retrognathia, Thin vermilion border, Bifid ... |
OMIM:619110 |
Anencephaly 2 |
|
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... |
OMIM:192445 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude |
ORPHA:90117 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Cleft palate, Micrognathia, Abnormality of the dentition, Long philtrum, Bifid uvula... |
ORPHA:576283 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Tooth agenesis, Death in adolescence, Death in early adulthood, Dilated cardiomyopathy, Ventricul... |
OMIM:605676 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequ... |
OMIM:604841 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Glossoptosis, Arrhythmia, Abnormal mandible morphology, Submucou... |
ORPHA:3201 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Hydrolethalus |
|
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencepha... |
ORPHA:2189 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Hypodontia, Absent cupid's bow... |
ORPHA:2919 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Cleft palate |
OMIM:618768 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Birk-Barel Syndrome |
|
High palate, Microretrognathia, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented ... |
OMIM:612292 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Retrognathia, Bifid uvula, Unilateral cleft lip, Cleft soft palate |
ORPHA:2736 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Temple Syndrome |
|
High palate, Cleft palate, Micrognathia, Short philtrum, Bifid uvula |
OMIM:616222 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Micrognathia, Cleft soft palate |
ORPHA:93316 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Cleft palate, Retrognathia, Thin vermilion border, Death in childhood,... |
OMIM:612938 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Amish Lethal Microcephaly |
|
Micrognathia, Spina bifida, Death in infancy, Cleft soft palate |
ORPHA:99742 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... |
OMIM:617412 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... |
OMIM:609166 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Cleft palate, Thin vermilion border, Micrognathia, Short philtrum,... |
OMIM:608572 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, High, narrow palate, Micrognathia, Bifid uvula, Umbilical hern... |
ORPHA:2872 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... |
OMIM:618779 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Cleft palate, Retrognathia, Micrognathia, Mitral regurgitation, Bifid uvula |
OMIM:612561 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate |
ORPHA:166016 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Branchial fistula, Atresia of th... |
ORPHA:52429 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathi... |
OMIM:616331 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Gingival overgrowth, Bifid uvula, Thick lower lip vermilion |
OMIM:618658 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... |
ORPHA:137888 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... |
OMIM:618622 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eru... |
ORPHA:2780 |
X-Linked Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormal mitral valve morphology, Conductive hearing impairment... |
ORPHA:1131 |
Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... |
ORPHA:2712 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Esophageal atresia, Smooth philtrum, Cleft soft palate |
OMIM:614526 |
Afibrinogenemia, Congenital |
|
Subdural hemorrhage, Hematemesis, Death in childhood, Death in adolescence, Neonatal death, Epidu... |
OMIM:202400 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Tongue edema, ... |
ORPHA:100050 |
Schilbach-Rott Syndrome |
|
Micrognathia, Narrow mouth, Bifid uvula, Submucous cleft hard palate |
OMIM:164220 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Micrognathia, Short philtrum, Bifid uvula, Pyloric stenosis |
ORPHA:96184 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Dilatated internal aud... |
OMIM:113650 |
Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Pai Syndrome |
|
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele |
ORPHA:1993 |
Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Dental crowding, Aortic valve stenosis, Tooth malpositio... |
ORPHA:96170 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... |
ORPHA:3473 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... |
OMIM:129400 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Micrognathia, Bifid uvula, Submucous cleft hard palate |
OMIM:114300 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Bifid ... |
ORPHA:1790 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate |
OMIM:619122 |
Temple Syndrome |
|
Polyphagia, Bifid uvula |
ORPHA:254516 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Bifid uvula, Cleft palate |
OMIM:300958 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Micrognathia, Delayed eruption of teeth, Bifid uvula, Polyhydramnios, Cleft hard pa... |
OMIM:300990 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules |
OMIM:258850 |
Stickler Syndrome, Type I |
|
Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequence, Submucous cleft... |
OMIM:108300 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Bifid uvula, Delayed eruption of teeth |
OMIM:612350 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Persistent fetal circulation, High, narrow palate, Tricuspid regurgitation, Long phi... |
OMIM:612863 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Downturned corner... |
ORPHA:404440 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... |
OMIM:200990 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... |
OMIM:614701 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Meckel Syndrome 12 |
|
Micrognathia, Oligohydramnios, Bifid uvula |
OMIM:616258 |
Moebius Syndrome |
|
High palate, Micrognathia, Abnormality of the dentition, Bifid uvula, Dysphagia |
OMIM:157900 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate |
OMIM:619314 |
Myhre Syndrome |
|
Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ... |
ORPHA:2588 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Mandibular prognathia, Thick lower lip... |
OMIM:619103 |
Double Outlet Right Ventricle |
|
Narrow mouth, Cleft palate, Intestinal malrotation, Pulmonic stenosis, Tachycardia, Heart murmur,... |
ORPHA:3426 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Cleft soft palate |
OMIM:606851 |
8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Long philtrum, Hypoplasia of the maxilla, Submucous cleft hard palate |
ORPHA:178303 |
Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Narrow mouth, Bifid uvula, High palate |
ORPHA:169186 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... |
OMIM:618106 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Cleft soft palate, Short philtrum, Oligohydramnios, Smooth philtrum |
ORPHA:293725 |
W Syndrome |
|
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate |
ORPHA:2804 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... |
ORPHA:1071 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Aortic valve stenosis, Bifid uvula, Spinal dysraphism, Submucous cleft hard palate |
OMIM:617660 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Telangiectasia, Micrognathia, Short philtrum, Bifid uvula, Downturned corners of mou... |
ORPHA:247262 |
Neu-Laxova Syndrome |
|
Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Bifid uvula, Polyhydramnio... |
ORPHA:2671 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Taurodontia, Agenesis of central incisor, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Limb-Mammary Syndrome |
|
Bifid uvula, Hypodontia, Cleft palate |
OMIM:603543 |
Cri-Du-Chat Syndrome |
|
High palate, Microretrognathia, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Ora... |
OMIM:123450 |
Pallister W Syndrome |
|
Agenesis of maxillary central incisor, Agenesis of central incisor, Broad uvula, Submucous cleft ... |
OMIM:311450 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Micrognathia, Oligodontia... |
OMIM:608670 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Micrognathia, Bifid uvula, Cleft palate |
OMIM:606164 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Abnormal helix morphology, Abnormal autonomic nervou... |
ORPHA:453499 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Bifid uvula, Cleft palate |
OMIM:614175 |
15Q Overgrowth Syndrome |
|
High palate, Microretrognathia, High, narrow palate, Malar flattening, Tricuspid regurgitation, R... |
ORPHA:314585 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... |
ORPHA:1299 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Glossoptosis, Micrognathia, Bifid uvula, Polyhydramnios |
ORPHA:1427 |
Orofaciodigital Syndrome Type 4 |
|
Anal atresia, Abnormality of the tongue, High, narrow palate, Cleft palate, Retrognathia, Microgn... |
ORPHA:2753 |
1Q41Q42 Microdeletion Syndrome |
|
Thick vermilion border, Cleft palate, Submucous cleft hard palate |
ORPHA:250999 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Polyhydramnios, Supernumerary maxillary in... |
ORPHA:199302 |
Megalocornea-Mental Retardation Syndrome |
|
High palate, Micrognathia, Long philtrum, Bifid uvula, Dysphagia |
OMIM:249310 |
Orofaciodigital Syndrome Type 10 |
|
Accessory oral frenulum, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate |
ORPHA:2756 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Malar flattening, Chylous ascites, Palpebral edema, Nonimmune hydrops ... |
OMIM:265300 |
Chromosome 18Q Deletion Syndrome |
|
Cleft upper lip, U-Shaped upper lip vermilion, Aortic valve stenosis, Cleft palate, Malar flatten... |
OMIM:601808 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Submucous cleft h... |
OMIM:613805 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Retrognathia, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atres... |
OMIM:619227 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... |
OMIM:174300 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia |
OMIM:263540 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Protruding ear |
ORPHA:435938 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Open bite, Pulmonic stenosis, Micrognathia, Abnormality of the ... |
OMIM:115150 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Bifid uvula |
OMIM:601110 |
Loeys-Dietz Syndrome 5 |
|
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Retrognathi... |
OMIM:615582 |
Desmosterolosis |
|
Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Intestinal malrotation, Bifid uvula, Subm... |
ORPHA:35107 |
Limb-Mammary Syndrome |
|
Hypodontia, Cleft palate, Malar flattening, Submucous cleft soft palate, Bifid uvula, Cleft lip, ... |
ORPHA:69085 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Cleft palate, Retrognathia, Umbilical hernia, Open mouth, Pierre-Ro... |
OMIM:192430 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Dental malocclusion, Cleft upper lip, Anal atresia, Paranasal sinus hypoplasia, Clef... |
OMIM:300373 |
Marshall Syndrome |
|
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Mala... |
OMIM:154780 |
Congenital Disorder Of Glycosylation, Type It |
|
Cleft palate, Micrognathia, Sudden cardiac death, Tachycardia, Bifid uvula, Dilated cardiomyopath... |
OMIM:614921 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula, Hypoplasia of ... |
ORPHA:87 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Short philtrum, Long philtrum, Bifid uvula, Downturned corners of mo... |
OMIM:619121 |
Cerebrocostomandibular Syndrome |
|
High palate, Malar flattening, Glossoptosis, Micrognathia, Abnormality of the dentition, Short ha... |
OMIM:117650 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin vermilion border, Micrognathia, Long philtrum, Bifid uvula |
OMIM:241410 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Micrognathia, Bifid uvula, Cleft mand... |
OMIM:268305 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Malar flattening, Cleft palate, Long philtrum, Delayed eruption of teeth... |
OMIM:607812 |
Oligomeganephronia |
|
Branchial cyst, Hearing impairment, Secundum atrial septal defect, Optic disc coloboma |
ORPHA:2260 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micrognathia, Oligohydramnios, Hypoplasia of the tooth germ, Bifid uvula |
ORPHA:293967 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia, Dental malocclusion, Hypodontia, Fragile teeth, Micrognathia, Bifid ... |
ORPHA:2959 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
Loeys-Dietz Syndrome 4 |
|
High palate, High, narrow palate, Eosinophilic infiltration of the esophagus, Retrognathia, Bifid... |
OMIM:614816 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Hypopla... |
ORPHA:2554 |
White-Sutton Syndrome |
|
High palate, Malar flattening, Cleft palate, Thin vermilion border, Micrognathia, Short philtrum,... |
OMIM:616364 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... |
ORPHA:2250 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Abnormal antihelix morphology, Short neck, External ear malf... |
ORPHA:2162 |
Walker-Warburg Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:899 |
Cardiofaciocutaneous Syndrome |
|
High palate, Pulmonic stenosis, Long philtrum, Hypoplasia of the zygomatic bone, Lymphedema, Hype... |
ORPHA:1340 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Micrognathia, Pulmonary arterial hypertension, Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Re... |
ORPHA:177907 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Pulmonic stenosis, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia |
OMIM:615802 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Pyloric stenosis, Thin upper lip vermilion, Submucous cleft hard palate |
ORPHA:457279 |
Native American Myopathy |
|
High palate, Cleft palate, Micrognathia, Submucous cleft soft palate, Bifid uvula, Downturned cor... |
ORPHA:168572 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, Dental crowding, Mandibular progn... |
OMIM:309583 |
Orofaciodigital Syndrome Type 3 |
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Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... |
ORPHA:2752 |
Holoprosencephaly 3 |
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Cleft palate, Malar flattening, Bifid uvula, Cleft lip, Solitary median maxillary central incisor |
OMIM:142945 |
Distal 22Q11.2 Microduplication Syndrome |
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Tricuspid valve prolapse, Abnormal antihelix morphology, Low-set ears, Protruding ear, Abnormal h... |
ORPHA:261337 |
Elsahy-Waters Syndrome |
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High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... |
OMIM:211380 |
Spondyloepiphyseal Dysplasia Congenita |
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Cleft palate, Malar flattening, Bifid uvula, Pierre-Robin sequence, Cervical myelopathy |
OMIM:183900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Sensorineural hearing impairment, Conductive hearing impairment, Bicuspid aortic valve, Protrudin... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Sensorineural hearing impairment, Conductive hearing impairment, Bicuspid aortic valve, Protrudin... |
ORPHA:352665 |
Restrictive Dermopathy 1 |
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Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Short umbilical cord, Neonatal dea... |
OMIM:275210 |
Treacher Collins Syndrome 1 |
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Wide mouth, Narrow mouth, Cleft palate, Malar flattening, Micrognathia, Abnormal parotid gland mo... |
OMIM:154500 |
Popliteal Pterygium Syndrome |
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Cleft upper lip, Cleft palate, Bifid uvula, Spina bifida occulta, Lower lip pit, Fibrous syngnathia |
OMIM:119500 |
Dubowitz Syndrome |
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High palate, Velopharyngeal insufficiency, Micrognathia, Agenesis of permanent teeth, Delayed eru... |
OMIM:223370 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Retrognathia, Bifid uvula, High palate |
OMIM:300472 |
Holoprosencephaly 13, X-Linked |
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Duodenal atresia, Median cleft palate, Cleft palate, Micrognathia, Solitary median maxillary cent... |
OMIM:301043 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
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Wide mouth, High, narrow palate, Cleft palate, Retrognathia, Eclabion, Short philtrum, Microdonti... |
OMIM:619950 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Wide mouth, Macroglossia, Retrognathia, Microdontia, Thin lower lip vermilion, Deep philtrum, Thi... |
OMIM:619194 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Tricuspid regurgitation, Mitral regurgitation, Polyhydramnios, Umbilical hernia, Cleft soft palate |
OMIM:614557 |
Lenz-Majewski Hyperostotic Dwarfism |
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Wide mouth, High, narrow palate, Cleft palate, Bifid uvula, Submucous cleft hard palate, Thick ve... |
ORPHA:2658 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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High palate, Triangular mouth, Tricuspid regurgitation, Pulmonic stenosis, Mitral regurgitation, ... |
OMIM:617506 |
Tolchin-Le Caignec Syndrome |
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High palate, Narrow mouth, Micrognathia, Umbilical hernia, Submucous cleft hard palate |
OMIM:618971 |
Dubowitz Syndrome |
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High palate, Wide mouth, Malabsorption, Micrognathia, Abnormality of the dentition, Delayed erupt... |
ORPHA:235 |
Desbuquois Dysplasia 2 |
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Hypodontia, Cleft palate, Long philtrum, Bifid uvula, Dental crowding |
OMIM:615777 |
Trichohepatoenteric Syndrome 1 |
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Wide mouth, Narrow mouth, Pulmonic stenosis, Long philtrum, Bifid uvula, Polyhydramnios, Villous ... |
OMIM:222470 |
Alg9-Cdg |
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Wide mouth, Microretrognathia, Tricuspid regurgitation, Micrognathia, Hydrops fetalis, Long philt... |
ORPHA:79328 |
Marden-Walker Syndrome |
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Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Pyloric stenosis, Submucous ... |
ORPHA:2461 |
Zttk Syndrome |
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High palate, Narrow mouth, Intestinal atresia, Thin vermilion border, Abnormality of the dentitio... |
OMIM:617140 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Retrognathia, Micrognathia, Bifid uvula, Polyhydramnios, Neoplasm of the tongue, Submucous cleft ... |
ORPHA:3047 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Micrognathia, Bifid uvula, Microd... |
OMIM:266920 |
Meester-Loeys Syndrome |
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Mitral regurgitation, Bifid uvula, Malar flattening |
OMIM:300989 |
Apert Syndrome |
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Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Malar flattening, Delayed eruptio... |
OMIM:101200 |
Distal 22Q11.2 Microdeletion Syndrome |
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Sensorineural hearing impairment, Atrial septal defect, Branchial fistula, Ventricular septal def... |
ORPHA:261330 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Anal atresia, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Smooth phil... |
OMIM:300968 |
Frontofacionasal Dysplasia |
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Cleft upper lip, Malar flattening, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia ... |
OMIM:229400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Supernumerary tooth, Aortic valve stenosis, Retrognathia, Pyloric stenosis, Widely spaced teeth, ... |
ORPHA:268261 |
Campomelic Dysplasia |
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High palate, Narrow mouth, Cleft palate, Micrognathia, Long philtrum, Carious teeth, Polyhydramni... |
OMIM:114290 |
Microphthalmia, Syndromic 2 |
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Dental malocclusion, Supernumerary tooth, Persistence of primary teeth, Aortic valve stenosis, Ra... |
OMIM:300166 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Prominent antihelix, Hearing impairment, Posteriorly rotated ears, Branchial anomaly |
ORPHA:466950 |
Hardikar Syndrome |
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Hematemesis, Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal va... |
OMIM:301068 |
Lacrimoauriculodentodigital Syndrome |
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Hypodontia, Corneal neovascularization, Micrognathia, Abnormality of the dentition, Xerostomia, M... |
ORPHA:2363 |
Restrictive Dermopathy |
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Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Short umbilical cord, Large placen... |
ORPHA:1662 |
Leprosy |
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Enlarged peripheral nerve, Abnormal autonomic nervous system physiology, Abnormality of the seven... |
ORPHA:548 |
Viss Syndrome |
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High palate, Chronic gastritis, Broad uvula, Umbilical hernia, High, narrow palate, Retrognathia,... |
OMIM:619472 |
Sifrim-Hitz-Weiss Syndrome |
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Bifid uvula, Anteriorly placed anus |
OMIM:617159 |
Frontometaphyseal Dysplasia 2 |
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High palate, Cleft palate, Pulmonic stenosis, Short philtrum, Bifid uvula, Pyloric stenosis, Deep... |
OMIM:617137 |
Van Esch-O'Driscoll Syndrome |
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Wide mouth, Retrognathia, Tracheoesophageal fistula, Bifid uvula, Spina bifida occulta, Downturne... |
OMIM:301030 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Wide mouth, Narrow mouth, Left ventricular noncompaction cardiomyopathy, High, narrow palate, Mal... |
OMIM:300967 |
Blackfan-Diamond Anemia |
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High palate, Micrognathia, Nonimmune hydrops fetalis, Adenocarcinoma of the colon, Cleft lip, Cle... |
ORPHA:124 |
Trisomy 8P |
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Cleft palate, Retrognathia, Thin vermilion border, Malrotation of small bowel, Bifid uvula, Heart... |
ORPHA:264450 |
Camptodactyly Syndrome, Guadalajara, Type I |
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High palate, Dental malocclusion, Narrow mouth, Malar flattening, Abnormality of dental eruption,... |
OMIM:211910 |
Loeys-Dietz Syndrome |
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High palate, Malar flattening, Micrognathia, Bifid uvula, Oral cleft, Cardiac arrest |
ORPHA:60030 |
Tetrasomy 9P |
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High palate, Abnormal number of permanent teeth, Cleft palate, Raynaud phenomenon, Micrognathia, ... |
ORPHA:3310 |
Aprosencephaly And Cerebellar Dysgenesis |
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Micrognathia, Bifid uvula |
OMIM:601374 |
Aneurysm-Osteoarthritis Syndrome |
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High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Pulmonic stenosis... |
ORPHA:284984 |
Treacher-Collins Syndrome |
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Conductive hearing impairment, Microtia, Branchial fistula, Patent ductus arteriosus, Narrow inte... |
ORPHA:861 |
Holoprosencephaly 2 |
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Malar flattening, Bifid uvula, Bilateral cleft lip and palate, Aplasia of the premaxilla, Median ... |
OMIM:157170 |
Ring Chromosome 7 Syndrome |
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Narrow mouth, Median cleft palate, Cleft palate, Malar flattening, Thin vermilion border, Short p... |
ORPHA:1449 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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High palate, Joint swelling, Wide mouth, Narrow mouth, Dental crowding, Cleft soft palate, Microg... |
OMIM:619503 |
Chromosome 1P36 Deletion Syndrome, Distal |
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High palate, Cleft upper lip, Malar flattening, Long philtrum, Bifid uvula, Oral cleft, Polyphagi... |
OMIM:607872 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Cleft palate, Malar flattening, Retrognathia, Micrognathia, Bifid uvula, Thick vermilion border, ... |
ORPHA:2636 |
Saethre-Chotzen Syndrome |
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Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Hypoplasia of the maxilla |
OMIM:101400 |
Smith-Lemli-Opitz Syndrome |
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Microretrognathia, Cleft palate, Intestinal malrotation, Micrognathia, Broad alveolar ridges, Lon... |
OMIM:270400 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Pul... |
ORPHA:261537 |
Semilobar Holoprosencephaly |
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High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... |
ORPHA:93924 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Abn... |
ORPHA:261552 |
Baller-Gerold Syndrome |
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High palate, Anal atresia, Narrow mouth, Cleft palate, Micrognathia, Bifid uvula, Spina bifida oc... |
OMIM:218600 |
Mowat-Wilson Syndrome |
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Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Ent... |
ORPHA:2152 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Submucous cleft hard palate |
OMIM:618891 |
Loeys-Dietz Syndrome 1 |
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Cleft palate, Malar flattening, Retrognathia, Micrognathia, Eosinophilic infiltration of the esop... |
OMIM:609192 |
Branchiooculofacial Syndrome |
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Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Microtia, Overfold... |
OMIM:113620 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Micrognathia, Narrow mouth, Bifid uvula, Cleft palate |
OMIM:130070 |
Neuroocular Syndrome |
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Retrognathia, Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Inc... |
OMIM:619539 |
Coffin-Siris Syndrome 12 |
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High palate, Velopharyngeal insufficiency, Micrognathia, Heart murmur, Celiac disease, Submucous ... |
OMIM:619325 |
Frontometaphyseal Dysplasia |
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Cleft palate, Micrognathia, Oligodontia, Bifid uvula, Spina bifida occulta |
ORPHA:1826 |
Steinfeld Syndrome |
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Median cleft lip and palate, Bifid uvula |
OMIM:184705 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Downturned corners of mouth, Smooth philtrum, Cleft soft palate, Intestinal malrotation |
OMIM:619321 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Cleft palate, Thin vermilion border, Short philtrum, Submucous cleft soft palate, Bifid uvula, Do... |
ORPHA:500150 |
Loeys-Dietz Syndrome 3 |
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High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Eosinophilic infi... |
OMIM:613795 |
Mowat-Wilson Syndrome |
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Tooth malposition, Cleft palate, Pulmonic stenosis, Delayed eruption of teeth, Pyloric stenosis, ... |
OMIM:235730 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Narrow mouth, Bifid uvula, Exaggerated cupid's bow, Thick vermilion border, Spina bifida |
OMIM:619480 |
Loeys-Dietz Syndrome 2 |
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Cleft palate, Malar flattening, Retrognathia, Micrognathia, Eosinophilic infiltration of the esop... |
OMIM:610168 |
8Q24.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Optic nerve hypoplasia, Short neck, Spina bifida occulta, Ventricu... |
ORPHA:508488 |
Pallister-Hall Syndrome |
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Anal atresia, Accessory oral frenulum, Microretrognathia, Cleft palate, Bifid uvula, Arrhinenceph... |
ORPHA:672 |
Digeorge Syndrome |
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High palate, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Bifid uvula, Recurr... |
OMIM:188400 |
Craniofacial Microsomia |
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Sensorineural hearing impairment, Conductive hearing impairment, Unilateral external ear deformit... |
OMIM:164210 |
Pallister-Killian Syndrome |
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Wide mouth, Cleft palate, Delayed eruption of teeth, Tented upper lip vermilion, Anteriorly place... |
OMIM:601803 |
Wiedemann-Rautenstrauch Syndrome |
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Premature loss of teeth, Narrow mouth, Hypodontia, Malar flattening, Retrognathia, Abnormality of... |
ORPHA:3455 |
Microphthalmia, Syndromic 6 |
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High palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Microglossia |
OMIM:607932 |
Witteveen-Kolk Syndrome |
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Sensorineural hearing impairment, Uplifted earlobe, Protruding ear, Branchial fistula, Cupped ear... |
OMIM:613406 |