| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia |
ORPHA:2898 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum |
ORPHA:46 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia |
OMIM:201550 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation |
OMIM:600252 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal death, Retrogn... |
OMIM:615524 |
| Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Thomas Syndrome |
|
Cleft upper lip, Cleft palate, Dolichocephaly |
ORPHA:3316 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... |
OMIM:612292 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Midface retrusion |
OMIM:617768 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Brachycephaly, Downturned corners of mouth, Wi... |
OMIM:617752 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... |
OMIM:620107 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing, Dental crowding |
OMIM:619264 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Midface retrusion, Cleft palate |
ORPHA:1135 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence |
OMIM:620183 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Micrognathia |
ORPHA:166016 |
| Cebalid Syndrome |
|
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac... |
OMIM:618774 |
| Schilbach-Rott Syndrome |
|
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... |
OMIM:164220 |
| Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft... |
OMIM:619680 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long philtrum... |
OMIM:618529 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... |
OMIM:619314 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... |
OMIM:619103 |
| Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... |
ORPHA:2189 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia |
ORPHA:99742 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Pulmonary hypoplasia, Cleft palate |
ORPHA:250999 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Short philtrum, Retinal neovascularization, Intrauterine growth retardation, Midfac... |
OMIM:619074 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly |
OMIM:618265 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Intra... |
ORPHA:228390 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Pulmonic stenosis, Long p... |
ORPHA:137634 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
| Arthrogryposis, Distal, Type 3 |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia |
OMIM:606851 |
| Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Micrognathia |
OMIM:619122 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Cleft soft palate, Micrognathia, Submucous cleft soft palate, I... |
ORPHA:2282 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi... |
ORPHA:1071 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
| Faciocardiorenal Syndrome |
|
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
| 8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu... |
OMIM:612863 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micrognathia, Trismus, Submucous cleft hard palate, Cleft palate, Op... |
ORPHA:2671 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
| Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O... |
ORPHA:2753 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephaly, Microdontia |
OMIM:605282 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia |
ORPHA:93316 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Mi... |
ORPHA:1790 |
| Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Pulmonary artery... |
ORPHA:3426 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Pierre-Robin sequence, ... |
OMIM:117650 |
| Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... |
OMIM:618644 |
| Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Anomalous pulmonary venous ret... |
ORPHA:35107 |
| Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
| Crouzon Syndrome |
|
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... |
OMIM:123500 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... |
ORPHA:457279 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina... |
ORPHA:85199 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
| Native American Myopathy |
|
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... |
ORPHA:168572 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Micrognathia |
OMIM:222765 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Brachycephaly, Narrow palate, Cleft ... |
OMIM:605627 |
| Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
| Holoprosencephaly 7 |
|
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Cra... |
OMIM:610828 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Su... |
ORPHA:1299 |
| Holoprosencephaly 3 |
|
Proboscis, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary central incisor,... |
OMIM:142945 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Velopharyngeal insufficien... |
OMIM:223370 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Wide mouth, Short... |
OMIM:300967 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal... |
OMIM:614188 |
| Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Dystonia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Compulsive behav... |
OMIM:618891 |
| Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hype... |
ORPHA:2461 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dysphagia, Abnormal uvula morpho... |
ORPHA:100050 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Micrognathia, Malabsorption, Abnormality of the dentiti... |
ORPHA:235 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary tooth, Widely spaced teet... |
ORPHA:268261 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous clef... |
OMIM:617140 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Pulmonary artery stenosis, Partial ano... |
OMIM:301068 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Intrauterine growth retar... |
OMIM:619321 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
| Tolchin-Le Caignec Syndrome |
|
Micrognathia, Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder,... |
OMIM:618971 |
| Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... |
ORPHA:2658 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Short lingual frenulum, Brachycephaly, Anteriorly placed anus, Widely-spaced maxillary central in... |
OMIM:608980 |
| Viss Syndrome |
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Microretrognathia, Chronic gastritis, Broad uvula, Duodenitis, Intestinal malrotation, Cleft soft... |
OMIM:619472 |
| Restrictive Dermopathy 1 |
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Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Stillb... |
OMIM:275210 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Cleft soft palate |
OMIM:614557 |
| Frontofacionasal Dysplasia |
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Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Bif... |
OMIM:229400 |
| Diamond-Blackfan Anemia |
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Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon |
ORPHA:124 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Clef... |
OMIM:619503 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Recurrent respiratory infections, Micrognathia, Submucous cleft hard palate, Neoplasm of the tong... |
ORPHA:3047 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, T... |
ORPHA:500150 |
| Cardiofaciocutaneous Syndrome |
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Hypoplasia of the zygomatic bone, Submucous cleft hard palate, High palate, Long philtrum |
ORPHA:1340 |
| Campomelic Dysplasia |
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Irregular dentition, Micrognathia, Carious teeth, Submucous cleft hard palate, Recurrent upper re... |
OMIM:114290 |
| Chromosome 1P36 Deletion Syndrome, Distal |
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Aggressive behavior, Cleft upper lip, Self-mutilation, Submucous cleft hard palate, Abnormal lung... |
OMIM:607872 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, ... |
ORPHA:261537 |
| Holoprosencephaly 2 |
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Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micrognathia, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Malar flattening... |
ORPHA:2636 |
| Restrictive Dermopathy |
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Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Pulmon... |
ORPHA:1662 |
| Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetiti... |
ORPHA:2152 |
| Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Thin upper lip vermilion, Action tremor, Tremor, Abnormality of the dentition, Downt... |
ORPHA:3455 |
| Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pul... |
ORPHA:261552 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
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Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
| Neuroocular Syndrome |
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Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten... |
OMIM:619539 |
| Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
| Coffin-Siris Syndrome 12 |
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Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High pal... |
OMIM:619325 |
| Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Pulmo... |
OMIM:235730 |
| Leber Congenital Amaurosis |
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Encephalocele |
ORPHA:65 |
| Leber Congenital Amaurosis 16 |
|
|
OMIM:614186 |
| Vitreoretinal Degeneration, Snowflake Type |
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OMIM:193230 |
