| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Macrotia, Dextrocardia, Abnormal facia... |
OMIM:221950 |
| Mcdonough Syndrome |
|
Dental malocclusion, Protruding ear, Pectus excavatum, Kyphosis, Open bite, Short stature, Microg... |
ORPHA:2471 |
| Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... |
OMIM:614669 |
| Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Plagiocephaly, Pectus excavatum, Short stature, External ear malfor... |
ORPHA:2673 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Microdontia,... |
OMIM:601216 |
| Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Pectus excavatum, Atrial septal defect, Narrow face, Micrognathia, C... |
ORPHA:776 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Facial asymmetry, Anterior open-bite malocclusion,... |
ORPHA:477781 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Attached earlobe, Microcornea, Pectus carinatum, Mandibular progna... |
ORPHA:1327 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Narrow chest, Kyphosis, High palate, Pectus excavatum, Narrow face, Long face, Scoliosis, Pectus ... |
OMIM:300676 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Short stature, Thin vermilion border, Short philtrum, Platyspondyly, Hyp... |
OMIM:156510 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting |
OMIM:155050 |
| Maxillonasal Dysplasia |
|
Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scoliosis, Microdontia, Patchy disto... |
ORPHA:1248 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Microtia, Short mandibular rami, Delayed eruption of teeth, Tongue... |
OMIM:141300 |
| Alpha-Mannosidosis |
|
Dental malocclusion, Corneal opacity, Kyphosis, Abnormal helix morphology, Gingival overgrowth, N... |
ORPHA:61 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Facial asymmetry, Hypoplasia of the maxilla |
OMIM:133900 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Del... |
ORPHA:2972 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Kyphosis, Short stature, Abnormality of the dentition, Scoliosis, Mandibular... |
ORPHA:1858 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Narrow face, Short stature, Long face, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia... |
ORPHA:93950 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Kyphoscoliosis, Short stature, Macrotia, Anteverted ears |
OMIM:615541 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... |
ORPHA:90653 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Short stature, Micrognathia, Camptodactyly of finger, Delayed erupti... |
ORPHA:2863 |
| 20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, Malar flattening, Microtia, Short stature, Long philtrum, Pec... |
ORPHA:261295 |
| Three M Syndrome 2 |
|
High palate, Dental malocclusion, Protruding ear, Lumbar hyperlordosis, Severe short stature, Mal... |
OMIM:612921 |
| Atelosteogenesis, Type Iii |
|
Knee dislocation, Malar flattening, Cleft palate, Horizontal sacrum, Micrognathia, Short neck, Sc... |
OMIM:108721 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
| X-Linked Intellectual Disability, Porteous Type |
|
Narrow face, Short stature, Long face, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Mac... |
ORPHA:93945 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Short stature, Pectus excavatum, Genu recurvatum, Cleft palate, Everted lower li... |
ORPHA:915 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Attached earlobe, Short stature, Micrognathia, Short neck,... |
ORPHA:436245 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Abnormal pinna morphology, Pectus excavatum, Joint dislocation, Cle... |
OMIM:616145 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Dental malocclusion, Protruding ear, Pectus excavatum, Atrial septal defect, Blue ir... |
OMIM:249630 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening, Short stature |
OMIM:616108 |
| Auriculocondylar Syndrome 1 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Cleft palate, Glos... |
OMIM:602483 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Ventricular septal defect, Transpos... |
OMIM:231060 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... |
ORPHA:79113 |
| Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Microcephaly, Rhombencephalosynapsis, Hypoplasia of the pons, Coarcta... |
ORPHA:280195 |
| Mcdonough Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosi... |
OMIM:248950 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the maxilla, Flat face, Malar flattening |
OMIM:122880 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia,... |
OMIM:613684 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Hydrocephalus, Cleft palate, Microcephaly, Aplasia/Hypoplasia of t... |
ORPHA:1926 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Atrioventricular canal defect, Long face, Short philtrum, Diastema, Long... |
OMIM:619142 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Abnormal facial shape, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
| Craniolenticulosutural Dysplasia |
|
Narrow chest, High palate, Wide mouth, Premature loss of teeth, Short stature, Thin vermilion bor... |
ORPHA:50814 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Protruding ear, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Midf... |
OMIM:618737 |
| Dysostosis, Stanescu Type |
|
Abnormal palate morphology, Kyphosis, Pectus excavatum, Tooth agenesis, Macroglossia, Short statu... |
ORPHA:1798 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture, Short stature |
OMIM:259610 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Enlarged thorax, Cerebral cortical atrophy, Holoprosencephaly, Microcephaly, Short neck, Abnormal... |
ORPHA:2570 |
| Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Bicuspid aortic valve, Conductive hearing impairment, Protruding ear, Cleft palate,... |
OMIM:616367 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Midface retrusion, Short stature |
ORPHA:2776 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Malar flattening, Short stature, Abnormally prominent line of S... |
OMIM:109120 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Abnormal rib cage morphology, Short stature, Long thorax, Genu ... |
OMIM:608154 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Short stature, Microcephaly, Anencephaly, Aplasia... |
ORPHA:1908 |
| Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Short face, Hypoplasia of the maxill... |
ORPHA:99772 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Brachycephaly, Narrow palate, Midface retrusion, Frontal bossing, ... |
ORPHA:207 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Narrow face, Camptodactyly of finger, Ulnar devia... |
ORPHA:1529 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Conductive hearing impairment, Pectus excavatum, Prominent sternum, Spondylolisthesi... |
OMIM:617877 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Long face, Dental malocclusion, Short philtrum, Narrow face |
OMIM:300210 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hypodontia, Short stature, Dolichocephaly, Astigmatism,... |
OMIM:253250 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Tetralogy of F... |
OMIM:136760 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia... |
OMIM:246560 |
| Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
| Harrod Syndrome |
|
High palate, Dental malocclusion, Protruding ear, Kyphosis, Narrow mouth, Narrow face, Long face,... |
ORPHA:2115 |
| Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Thin calvarium, Delayed cr... |
OMIM:601812 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Hypoplasia of the maxilla |
OMIM:618302 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Dental malocclusion, Torus palatinus, Clavicular sclerosis, Scl... |
OMIM:144750 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:93262 |
| Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Abnormal cardiac septum morphology, Open bite, Short stature, A... |
ORPHA:3079 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Broad face, Parietal bossing, Bilateral cleft lip and palate, Front... |
OMIM:610828 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Growth delay, Narrow mouth, Pectus excavatum, Malar flattening, Membranous subvalvular aortic ste... |
OMIM:271960 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Supernumerary tooth, Anodonti... |
OMIM:264475 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Dental malocclusion, Large earlobe, Narrow mouth, Macrodontia ... |
OMIM:257850 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
| Distal Monosomy 13Q |
|
Abnormal cardiac septum morphology, Anal atresia, Holoprosencephaly, Short stature, Microcephaly,... |
ORPHA:1590 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Short thorax |
OMIM:601809 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, Cleft palate, Microcephaly,... |
OMIM:611134 |
| Potocki-Lupski Syndrome |
|
High palate, Dental malocclusion, Wide mouth, Atrial septal defect, Short stature, Micrognathia, ... |
OMIM:610883 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Short stature, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Si... |
OMIM:613686 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Long face, Mandibular prognathia, Mild short stature |
OMIM:618292 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Dislocated radial head, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia |
ORPHA:2975 |
| Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
| Larsen-Like Syndrome |
|
Dental malocclusion, Conductive hearing impairment, Kyphoscoliosis, Joint dislocation, Malar flat... |
OMIM:608545 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Protruding ear, Short stature, Camptodactyly of finger, Hypoplasia of the maxilla |
ORPHA:85279 |
| Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Short neck, Microcornea, Ventricular septal defect, Sagit... |
OMIM:201000 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Hypoplasia of the maxilla, Elbow dislocation, Large earlo... |
ORPHA:1106 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, Cleft palat... |
OMIM:610829 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... |
OMIM:306955 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... |
ORPHA:363417 |
| Coffin-Lowry Syndrome |
|
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Delayed eruption of ... |
ORPHA:192 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Round face, Thoracic hypoplasia, Advanced ... |
OMIM:618363 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Dextrocardia, Meningocele, Abnormal tricuspid valve mo... |
ORPHA:1759 |
| Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Microspherophakia, Lumbar hyperlordosis, Shallow anterior chamber, Aortic ... |
OMIM:277600 |
| Fetal Akinesia Deformation Sequence 4 |
|
High palate, Kyphosis, Retrognathia, Micrognathia, Short neck, Low-set ears, Posteriorly rotated ... |
OMIM:618393 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal molar morphology, Microcornea, Delayed eruption of teeth, Carious... |
ORPHA:2791 |
| Craniosynostosis 3 |
|
Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Micrognathia, Bilateral elbow dislocations, Wrist swelling, Hypoplasia of the ma... |
OMIM:166300 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Congenital hip dislocation, Scoliosis, Limited elbow e... |
OMIM:619719 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Long face, Facial asymmetry, Scoliosis, Hypoplasia of the maxilla, Macrotia, Brachyc... |
OMIM:218000 |
| Malan Syndrome |
|
Gingival overgrowth, Pectus excavatum, Narrow mouth, Narrow face, Retrognathia, Long face, Everte... |
OMIM:614753 |
| Nance-Horan Syndrome |
|
Mulberry molar, Narrow face, Long face, Diastema, Microcornea, Posterior Y-sutural cataract, Scre... |
OMIM:302350 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Bicuspid aortic valve, Plagiocephaly, Atrial septal defect, Pulmonic stenosi... |
OMIM:619149 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Pde4D Haploinsufficiency Syndrome |
|
Irregular vertebral endplates, Intrauterine growth retardation, Broad face, Postnatal growth reta... |
ORPHA:439822 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Kyphoscoliosis, Elbow ankylosis, Long face, Micrognathia, Facial... |
ORPHA:96183 |
| Crouzon Syndrome |
|
Keratitis, Conductive hearing impairment, Coronal craniosynostosis, Atresia of the external audit... |
OMIM:123500 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Thin ribs, Microtia, Retrognathia, Micrognathia, Pulmonic s... |
OMIM:608149 |
| Mosaic Trisomy 20 |
|
Narrow chest, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis, Limited ... |
ORPHA:1724 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Cataract, Hypoplasia of the maxilla, Proportionate ... |
ORPHA:79345 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... |
ORPHA:1335 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Retrognathia, Long face, Scoliosis, Low-set ears, Posteriorly rot... |
OMIM:617190 |
| Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... |
OMIM:603463 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... |
ORPHA:2790 |
| Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... |
ORPHA:137888 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Pectus excavatum, Hypoplastic vertebral bodies, Short stature, Abnormality o... |
OMIM:114620 |
| Noonan Syndrome 4 |
|
Dental malocclusion, Wide mouth, Pectus excavatum, Atrial septal defect, Blue irides, Abnormal st... |
OMIM:610733 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Delayed ... |
OMIM:273050 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Spina... |
ORPHA:2476 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
| Martsolf Syndrome 1 |
|
Prominent antitragus, High palate, Pectus excavatum, Thoracic scoliosis, Lumbar hyperlordosis, To... |
OMIM:212720 |
| Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Intrauterine growth retardation, Corneal opacity, Trigonocephaly, H... |
ORPHA:2409 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia |
OMIM:301200 |
| Cohen Syndrome |
|
Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, Lumbar hyperlordosis, Hig... |
OMIM:216550 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Microtia, Short stature, Micrognathia, Birth length less than 3rd ... |
OMIM:613804 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... |
ORPHA:93267 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Dextrocardia |
|
Hydrocephalus, Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lu... |
ORPHA:1666 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Abnormal pinna morphology, Dislocated radial head, Postnatal gr... |
OMIM:210600 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, Pu... |
ORPHA:3426 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Craniosynostosis, Abnormality of the de... |
ORPHA:178303 |
| Limb Body Wall Complex |
|
Lens subluxation, Cleft palate, Anencephaly, Ventricular septal defect, Encephalocele, Thoracic h... |
ORPHA:2369 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperopic astigmatism, Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
| Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Protruding ear, Narrow palate, Short stature, Micrognathia, Osteoarthritis, ... |
OMIM:190350 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Aganglionic megacolon, Gastroesophageal... |
OMIM:156810 |
| Marden-Walker Syndrome |
|
High palate, Kyphosis, Narrow mouth, Abnormal sternum morphology, Joint contracture of the hand, ... |
OMIM:248700 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Platyspondyly, Scoliosis, Severe platyspondyly, Rhizomelia, Ovoid vertebral ... |
OMIM:608940 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Short philtrum, Scoliosis, Ventricular septal defect, Catarac... |
OMIM:608227 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... |
ORPHA:89844 |
| Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormal anterior chamber morphology, Posterior embryoto... |
ORPHA:782 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... |
ORPHA:794 |
| Ayme-Gripp Syndrome |
|
Pectus excavatum, Craniofacial asymmetry, Abnormality of the dentition, Radioulnar synostosis, Ma... |
OMIM:601088 |
| Cohen Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Craniolenticulosutural Dysplasia |
|
Narrow chest, High palate, Wide mouth, Punctate cataract, Malar flattening, Cleft palate, Short s... |
OMIM:607812 |
| Frontorhiny |
|
Congenital conductive hearing impairment, Lumbar hyperlordosis, Basal encephalocele, Cleft palate... |
ORPHA:391474 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Microcephaly, Ventricular septal defect, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... |
OMIM:615482 |
| Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Anal atresia, Intrauterine gro... |
ORPHA:887 |
| Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Facial asymmetry, Brach... |
OMIM:613849 |
| Weill-Marchesani Syndrome 2 |
|
High palate, Ventricular septal defect, Broad skull, Iridodonesis, Cataract, Hypoplasia of the ma... |
OMIM:608328 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dental malocclusion, Dislocated radial head, Kyphoscoliosis, High ... |
OMIM:612350 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect... |
OMIM:269860 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypodontia, Everted lower lip vermilion, Anterior chamber synechiae, Short philtrum, Opacificatio... |
OMIM:601499 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Abnormal heart morphology, Hydrocephalus, Anomalous pulmonary veno... |
ORPHA:244 |
| Marshall Syndrome |
|
High palate, Cleft palate, Abnormality of the dentition, Genu valgum, Hypoplasia of the maxilla, ... |
ORPHA:560 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Genu valgum, Partial fusi... |
OMIM:305620 |
| Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Pectus exca... |
ORPHA:2980 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Microcephaly, Scoliosis, Tetralogy of Fallot, Ventricular s... |
ORPHA:1727 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... |
ORPHA:1307 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Narrow mouth, Cleft palate, Mic... |
ORPHA:2166 |
| Pyle Disease |
|
Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow extension, Carious teeth, Abno... |
OMIM:265900 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Umbilical hernia, Midfa... |
OMIM:616331 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Brachyturricephaly, P... |
OMIM:182212 |
| Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Narrow ches... |
OMIM:615546 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Polymicrogyria, Optic atrophy, Agyria, Encephalocele, Pachygyria, Myocardial fibro... |
OMIM:253800 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, High, narrow palate, Malar flattening, Short stature, Dolichocephaly, Atlantoaxia... |
ORPHA:3433 |
| Meckel Syndrome, Type 10 |
|
Cleft palate, Dilated fourth ventricle, Cerebellar hypoplasia, Anencephaly, Malformation of the h... |
OMIM:614175 |
| Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Microcephaly, Scoliosis, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1913 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Polymicrogyria, Abnormal brainstem morphology, Optic atrophy, Abnormal cerebellum ... |
ORPHA:370959 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of ... |
ORPHA:1354 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Brachyturrice... |
OMIM:300280 |
| Shprintzen-Goldberg Syndrome |
|
Pectus excavatum, Craniosynostosis, Pectus carinatum, Genu valgum, Hypoplasia of the maxilla, Umb... |
ORPHA:2462 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:615067 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Abnormal pinna morphology, Micrognathia, Congenital hip dislocation, Scoliosis, Midface... |
OMIM:618291 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Short stature, Ventricular sep... |
OMIM:614261 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla,... |
ORPHA:2412 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
| Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Narrow ches... |
OMIM:601390 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Low-set ears, Protruding ear, Overfolded helix, Thin vermilion border, Long philtrum... |
ORPHA:481152 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Severe short stature, Generalized hypoplasia of dental enamel, Dolichocephaly,... |
OMIM:203550 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Kyphosis, Abnormal pinna morphology, Pectus excavatum, Plagioc... |
ORPHA:77300 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Atrial septal defect... |
ORPHA:261197 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Dental malocclusion, Dislocated radial head, Hypoplastic vertebral bodies,... |
OMIM:101800 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglo... |
OMIM:241310 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... |
OMIM:170390 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Abnormal pinna morphology, Microretrognathia, Biparietal narrowing, Long philtrum, Hypoplasia of ... |
ORPHA:228396 |
| Meier-Gorlin Syndrome 5 |
|
Microtia, Short stature, Micrognathia, Prominent metopic ridge, Long philtrum, Birth length less ... |
OMIM:613805 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Micrognathia, Anterior rib cupping, Abnormal form of the vertebral b... |
ORPHA:1801 |
| Cowden Syndrome 5 |
|
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... |
OMIM:615108 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Short stature,... |
ORPHA:3145 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Protruding ear, Cleft palate, Prominent metopic ridge, Short philtrum, Scoliosis, Mandi... |
ORPHA:85317 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Stillbi... |
OMIM:236500 |
| Short Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Intrauterine growth retardation, Hypodonti... |
OMIM:269880 |
| Acrodysostosis |
|
Spinal canal stenosis, Open bite, Short stature, Delayed eruption of teeth, Abnormal form of the ... |
ORPHA:950 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the dentition, Scoliosis, Pectus carinatum, Radioulnar synostosis, ... |
ORPHA:3268 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular se... |
ORPHA:261243 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, Long face, High palate |
OMIM:608931 |
| Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Coarse facial features, Wide... |
OMIM:617616 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum,... |
ORPHA:1528 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Abnormalit... |
OMIM:314390 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... |
OMIM:220210 |
| Jackson-Weiss Syndrome |
|
Frontal bossing, Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia, Tu... |
ORPHA:1540 |
| Ck Syndrome |
|
High palate, Kyphosis, Malar flattening, Narrow face, Retrognathia, Micrognathia, Long face, Scol... |
OMIM:300831 |
| Andersen-Tawil Syndrome |
|
High palate, Dental crowding, Persistence of primary teeth, Short stature, Micrognathia, Facial a... |
ORPHA:37553 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Glenoid fossa hy... |
OMIM:600920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Optic nerve dysplasia, Typ... |
OMIM:615287 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Wide mouth, Pectus excavatum, Round face, High, narrow palate, Everted lower lip vermilion, Retro... |
ORPHA:96092 |
| Keipert Syndrome |
|
Sensorineural hearing impairment, Short stature, Hypoplasia of the maxilla, Tented upper lip verm... |
ORPHA:2662 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Abnormality of cartilage of external ear, Dolichocephaly, Severe postnatal growt... |
ORPHA:2399 |
| Aarskog-Scott Syndrome |
|
Large earlobe, Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Short stature, Short ... |
OMIM:305400 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Short stature, Coronal craniosynostosis, Abnormality of the dentit... |
ORPHA:2095 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Mohr Syndrome |
|
High palate, Conductive hearing impairment, Accessory oral frenulum, Agenesis of central incisor,... |
OMIM:252100 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Abnormal rib cage morphology, Cleft palate, Scoliosis, Ectopia cordis, Encephalo... |
OMIM:217100 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis |
OMIM:611884 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Plagiocephaly, High palate, Malar flatteni... |
OMIM:602849 |
| Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... |
OMIM:608156 |
| Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Megalocornea, Ventricular septal defect, Double outlet... |
OMIM:249420 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... |
OMIM:182940 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Abnormally folded helix, Atrial septal defect, Pectus excavatum, Narrow face, Microg... |
OMIM:309520 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
| Cowden Syndrome 6 |
|
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... |
OMIM:615109 |
| Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Pectus excavatum, Spinal rigidity, Micrognathia, Long face, Sco... |
OMIM:617258 |
| Nager Syndrome |
|
Wide mouth, Cleft palate, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia o... |
ORPHA:245 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Disproportionate short-limb short stature, Pectus excavatum, Dentinogenesis imperfecta,... |
OMIM:259440 |
| Hallermann-Streiff Syndrome |
|
High palate, Pectus excavatum, Thin calvarium, Cataract, Decreased number of sternal ossification... |
OMIM:234100 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... |
ORPHA:1387 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Trismus, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Micrognathia, Scoliosis, Long philtrum, Astigmatism, Hyperlordosis, Downturned corners ... |
OMIM:615761 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Sensorineural hearing impairment, Dental malocclusion, Wide mouth, Malar flattening, Everted lowe... |
ORPHA:85321 |
| Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinatum, Carious te... |
ORPHA:582 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Hydrocephalus, Atrial septal defect, Cleft palate, Short ribs, Short neck, Anenceph... |
OMIM:616546 |
| Distal Trisomy 5Q |
|
Narrow mouth, Craniosynostosis, Thin vermilion border, Micrognathia, Short stature, Long philtrum... |
ORPHA:96097 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Short stature, Micrognathia, Short neck... |
ORPHA:2522 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Cataract,... |
ORPHA:861 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Grant Syndrome |
|
Sprengel anomaly, Large face, Narrow chest, Joint dislocation, Open bite, Abnormality of the glen... |
ORPHA:2097 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, C1-C2 subluxation, Hypoplasia of the maxilla, Delayed closure of the a... |
OMIM:259600 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Cupped ear, Hypoplasia of the maxilla, Low-set ears, Conjunctival hyperemia |
OMIM:167730 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Plagiocephaly, Pectus excavatum, High, narrow palate, Dolichocephaly, C... |
ORPHA:1101 |
| Mosaic Trisomy 14 |
|
Narrow chest, High palate, Wide mouth, Cleft palate, Microtia, Micrognathia, Camptodactyly of fin... |
ORPHA:1703 |
| Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, P... |
OMIM:253000 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Zimmermann-Laband Syndrome |
|
Sensorineural hearing impairment, Large fleshy ears, High palate, Wide mouth, Supernumerary tooth... |
ORPHA:3473 |
| Czeizel-Losonci Syndrome |
|
Prominent antitragus, High palate, Myelomeningocele, Micrognathia, Thin calvarium, Low-set, poste... |
ORPHA:2437 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Cri-Du-Chat Syndrome |
|
High palate, Abnormal pinna morphology, Microretrognathia, Narrow face, Long face, Facial asymmet... |
OMIM:123450 |
| Angelman Syndrome |
|
Wide mouth, Blue irides, Macroglossia, Scoliosis, Widely spaced teeth, Flat occiput, Hypoplasia o... |
OMIM:105830 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesi... |
OMIM:218670 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ... |
OMIM:157980 |
| Myhre Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Intrauterine growth retardation, Severe short s... |
ORPHA:2588 |
| Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Vertebral segmentation defect, N... |
ORPHA:87 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Cleft palate, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... |
OMIM:224690 |
| Microhydranencephaly |
|
Short stature, Microcephaly, Cerebellar hypoplasia, Growth delay, Pachygyria, Hydranencephaly, Ag... |
OMIM:605013 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Plagiocephaly, Wide mouth, Short philtrum, Scoliosis, Microdontia, Enamel hy... |
OMIM:619293 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Short st... |
ORPHA:2563 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Short statu... |
OMIM:616202 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Anodontia, Short stature, Opacification of the corneal stroma, Cataract, Hypoplasia of the maxill... |
OMIM:211370 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Hypopla... |
OMIM:213980 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Narrow chest, High palate, Anal atresia, Short stature, Pulmonic stenosis, Left ventricular hyper... |
OMIM:619148 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypoplasia, Ventricular septal defect, U... |
OMIM:600001 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Kyphosis, Congenital hip dislocation, Scoliosis, Delayed eruptio... |
OMIM:619797 |
| Frank-Ter Haar Syndrome |
|
Kyphosis, Protruding ear, Beaking of vertebral bodies, Genu recurvatum, Wide mouth, Gingival over... |
ORPHA:137834 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atriove... |
ORPHA:251071 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Pectus excavatum, Horizontal sacrum, Microcornea, Pectus carinatum, Twelfth rib hypo... |
OMIM:211910 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scoliosis, Coarse facial featu... |
ORPHA:2429 |
| Achard Syndrome |
|
Micrognathia, Brachycephaly, Broad skull |
OMIM:100700 |
| Sclerosteosis 1 |
|
Dental malocclusion, Large face, Tooth malposition, Malar flattening, Broad clavicles, Facial pal... |
OMIM:269500 |
| Recombinant Chromosome 8 Syndrome |
|
Pectus excavatum, Broad face, Abnormality of the dentition, Ventricular septal defect, Midface re... |
OMIM:179613 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Periodontitis, Severe... |
OMIM:231070 |
| Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Short neck, Anencephaly, Malform... |
OMIM:249000 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypop... |
ORPHA:2255 |
| Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Prominent sternum, Platyspondyly, Carious teeth, Disproportionate short-trunk short s... |
OMIM:253010 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Back pain, Osteosclerosis of the ba... |
ORPHA:210110 |
| Mosaic Trisomy 9 |
|
High palate, Cleft palate, Hemivertebrae, Short neck, Ventricular septal defect, Intrauterine gro... |
ORPHA:99776 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Narrow palate, Hyperplasia of the maxilla, Scoliosis, ... |
ORPHA:313892 |
| Kabuki Syndrome 2 |
|
High palate, Dental malocclusion, Protruding ear, Atrial septal defect, Hypodontia, Cleft palate,... |
OMIM:300867 |
| Distal Xq28 Microduplication Syndrome |
|
High palate, Microtia, Short stature, Absent antihelix, Short lingual frenulum, Hypoplasia of the... |
ORPHA:293939 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Cleft palate, Microtia, Retrognathia, Micrognathia, Short stature, Anotia, Hypoplasia of the maxi... |
OMIM:616462 |
| Melanocytic Nevus Syndrome, Congenital |
|
Round face, Everted lower lip vermilion, Prominence of the premaxilla, Long philtrum, Deep philtr... |
OMIM:137550 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Short statur... |
OMIM:192430 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... |
OMIM:616037 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Protruding ear, Pectus excavatum, Short stature, Micrognathia, Diastema, Furrowed to... |
OMIM:300534 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Short neck, Umbilical hernia... |
OMIM:265000 |
| Heart And Brain Malformation Syndrome |
|
Gastroesophageal reflux, Cerebral atrophy, High, narrow palate, Microcephaly, Hypoplasia of the c... |
OMIM:616920 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
| Robinow Syndrome |
|
Tricuspid atresia, Triangular mouth, Broad alveolar ridges, Hemivertebrae, Ventricular septal def... |
ORPHA:97360 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... |
ORPHA:2345 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Postnatal growth retardation, Square face, Mandibular prog... |
OMIM:309545 |
| Meier-Gorlin Syndrome 3 |
|
Narrow chest, Intrauterine growth retardation, Narrow mouth, Microretrognathia, Microtia, Short r... |
OMIM:613803 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Short stature, Retrognathia, Microcornea, Cataract, Growth delay, Brac... |
ORPHA:2528 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Perineal fistula, Anal atresia, Abnormal ... |
ORPHA:2538 |
| Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly |
OMIM:300073 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, High palate, Intrauterine growth retardation, Butterfly vertebrae,... |
OMIM:611209 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Severe short stature, Open bite, Micrognathia, Scoliosis... |
ORPHA:2617 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Short stature, Micrognathia, Camptodactyly of finger, Scoliosis, Microcornea, Cataract,... |
ORPHA:48431 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Microcephaly, Coarctation of aorta, Patent ductus arteriosus, Transpositio... |
OMIM:612474 |
| Oliver Syndrome |
|
High palate, Dental malocclusion, Absent earlobe, Camptodactyly of finger, Short philtrum, Scolio... |
ORPHA:2920 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Long upper lip,... |
ORPHA:93359 |
| Slc35A2-Cdg |
|
Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Scoliosis, Cortical dyspl... |
ORPHA:356961 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Cleft palate, Abnormality of the dentition, Short philtrum, Short neck, Microdontia,... |
ORPHA:251028 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth retardat... |
OMIM:225790 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Abnormal ve... |
ORPHA:166024 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Delayed puberty |
ORPHA:2598 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Narrow mouth, Atrial septal defect, Joint contracture of the hand, Short stature, Retro... |
ORPHA:352490 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Wide mouth, Narrow mouth, Short stature, Micrognathia, Short philtrum, Scoliosis, Deep ... |
OMIM:615834 |
| Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Pectus excavatum, Cleft palate, Overfolded helix, Ventricular septal defect, Broad r... |
OMIM:300373 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Conductive hearing impairment, Hypodontia, Cleft palate, Oval face, Ventricular ... |
OMIM:106260 |
| Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... |
OMIM:618371 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Intrauterine growth retardation, Double... |
OMIM:270100 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:614679 |
| Johnson Neuroectodermal Syndrome |
|
Cleft palate, Short stature, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:147770 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Scoliosis, Abnormal form... |
ORPHA:40 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ca... |
ORPHA:1452 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Microretrognathia, Abnormality of the dentition, Tetralogy of Fallo... |
ORPHA:276422 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Micrognathia, Scoliosis, Pectus carinatum, Thin upper lip vermilion, Triangular face,... |
OMIM:615419 |
| Diastrophic Dysplasia |
|
Large earlobe, Kyphosis, Intrauterine growth retardation, Abnormal clavicle morphology, Joint dis... |
ORPHA:628 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Hemivertebrae, Tracheoesophageal fistula, Short ne... |
ORPHA:1780 |
| 3M Syndrome |
|
Congenital hip dislocation, Short neck, Delayed eruption of teeth, Midface retrusion, Intrauterin... |
ORPHA:2616 |
| Hajdu-Cheney Syndrome |
|
High palate, Abnormal cardiac septum morphology, Short neck, Biconcave vertebral bodies, Genu val... |
OMIM:102500 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Short stature, Pulmonary artery hypoplasia, Anomalou... |
ORPHA:2326 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... |
OMIM:601186 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Stickler Syndrome |
|
Cleft palate, Platyspondyly, Advanced eruption of teeth, Pectus carinatum, Genu valgum, Hypoplasi... |
ORPHA:828 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Branchioskeletogenital Syndrome |
|
Pectus excavatum, Attached earlobe, Craniosynostosis, Abnormality of the dentition, Short philtru... |
ORPHA:1299 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Mandibular prognathia, Protruding ear, Scoliosis |
OMIM:300861 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Plagiocephaly, Hypoplastic vertebral bodies, Hypodontia,... |
ORPHA:2916 |
| Marden-Walker Syndrome |
|
Pectus excavatum, Cleft palate, Pectus carinatum, Radioulnar synostosis, Ventricular septal defec... |
ORPHA:2461 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Microcephaly, Tetralogy of Fallot, Ventricular septal de... |
OMIM:617478 |
| Mend Syndrome |
|
High palate, Kyphosis, Aortic valve stenosis, Microretrognathia, Short stature, Cataract, Low-set... |
OMIM:300960 |
| Cowden Syndrome 1 |
|
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... |
OMIM:158350 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Microretrognathia, Thin ribs,... |
OMIM:616294 |
| Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmo... |
ORPHA:2257 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, U-Shaped upper lip vermilion, Hypoplasia of the primary ... |
OMIM:234250 |
| Congenital Herpes Simplex Virus Infection |
|
Microcephaly, Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
| Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Ventricular septal defect, Umbilical hernia, High, nar... |
ORPHA:2789 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Dental malocclusion, Wide mouth, Pectus excavatum, Narrow palate, Abnormal rib cage ... |
OMIM:227330 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpus... |
ORPHA:300570 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Scoliosis, Ventricula... |
ORPHA:435638 |
| Elsahy-Waters Syndrome |
|
High palate, Pectus excavatum, Impacted tooth, Megalocornea, Delayed eruption of teeth, Hypoplasi... |
OMIM:211380 |
| Renpenning Syndrome |
|
Sensorineural hearing impairment, Sprengel anomaly, Narrow mouth, Pectus excavatum, Severe short ... |
ORPHA:3242 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Narrow mouth, Facial asymmetry, Low-set, posteriorly rotated ears, Genu varum, Hypoplasia of the ... |
ORPHA:1110 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
| Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Craniosynostosis, Anotia, Hypoplasia of the maxilla, Microtia, third degree, Intrau... |
ORPHA:2554 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thick corpus callosum, Kyphosis, Hydrocephalus, Thoracic scoliosis, Atrial septal defect, Hypopla... |
OMIM:603387 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal antihelix morphology, Narrow mouth, High, narrow palate, Malar flattening, Micrognathia,... |
ORPHA:1968 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Kyphosis, Short stature, Micrognath... |
ORPHA:3082 |
| Distal 17P13.1 Microdeletion Syndrome |
|
High palate, Protruding ear, Retrognathia, Limited elbow movement, Hypoplasia of the zygomatic bo... |
ORPHA:319171 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Posterior rib gap, Kyphosis, Cleft palate, Short stature, Cerebral calcificatio... |
ORPHA:1393 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... |
OMIM:613807 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Hearing impairment, Scoliosis |
OMIM:617087 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia |
OMIM:173800 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Glossoptosis, Ventricular septal defect, Oral ... |
ORPHA:1388 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Neonatal short-limb short stature, Dentinoge... |
OMIM:259420 |
| Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Sensorineural hearing impairment, Conductive h... |
ORPHA:96129 |
| X-Linked Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormal mitral valve morphology, Conductive hearing impairment... |
ORPHA:1131 |
| Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
| Basilar Impression, Primary |
|
Kyphoscoliosis, Craniofacial asymmetry, Short neck, Abnormal cervical myelogram, Platybasia |
OMIM:109500 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Lens subluxation, Genu recurvatum, Pulmonic stenosis, Long face, Scoliosis, Pectus cari... |
OMIM:609008 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth |
OMIM:601957 |
| Short Rib-Polydactyly Syndrome |
|
Narrow chest, Abnormal cerebellum morphology, Disproportionate short-limb short stature, Cleft pa... |
ORPHA:1505 |
| Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Delayed eru... |
OMIM:112350 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Midface retrusion, Sacral ... |
OMIM:616894 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Cleft upper lip, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosen... |
OMIM:264480 |
| Saethre-Chotzen Syndrome |
|
Cleft palate, Prominent crus of helix, Radioulnar synostosis, Hypoplasia of the maxilla, Abnormal... |
OMIM:101400 |
| Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Plagiocephaly, Pectus excavatum, Atrial septal defect, Kyphoscolio... |
OMIM:617808 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones, Short stature, Pectus carinatum, Macrotia, Poster... |
OMIM:618392 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Kyphoscoliosis, Malar flattening, Short stature, Midface retrusion, Amelogenesis imperfecta, Grow... |
OMIM:614727 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Retrognathia, Micrognathia, Short neck, Scoliosis, Low-set ears |
OMIM:611890 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philt... |
OMIM:277720 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Microretrognathia, Cupped ear, Mixed hearing impairment, Down-sloping should... |
OMIM:615560 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, High palate, Malar flattening, Hemivertebrae, Scoliosis, Abnormal form of the v... |
ORPHA:2180 |
| Trisomy 9P |
|
Kyphosis, Protruding ear, Abnormal pupil morphology, Impacted tooth, Short neck, Scoliosis, Downt... |
ORPHA:236 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Atrial septal defect, Velopharyngeal insufficienc... |
ORPHA:363444 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Conductive hearing impairment, Joint contracture of the hand, Malar flatteni... |
OMIM:608257 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Sprengel anomaly, High palate, Kyphoscoliosis, Malar flattening, Enamel hypoplasia, Mandibular pr... |
OMIM:600991 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Short stature, Coarse facial features, Abnormal rib morphology, Fr... |
ORPHA:1513 |
| Myhre Syndrome |
|
Cleft palate, Short philtrum, Platyspondyly, Short neck, Birth length less than 3rd percentile, V... |
OMIM:139210 |
| Three M Syndrome 1 |
|
Pectus excavatum, Short neck, Mandibular prognathia, Intrauterine growth retardation, Thick lower... |
OMIM:273750 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Right atrial enlargement, Growth delay, Microretrognathia, Thin ribs, Short ... |
OMIM:614008 |
| Takenouchi-Kosaki Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Abnormal cardiac septum morphology, Abnorm... |
OMIM:616737 |
| Autosomal Recessive Stickler Syndrome |
|
Sensorineural hearing impairment, Irregular vertebral endplates, Malar flattening, Cleft palate, ... |
ORPHA:250984 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... |
OMIM:615444 |
| Schwartz-Jampel Syndrome |
|
High palate, Pectus excavatum, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Overfold... |
ORPHA:800 |
| Alg3-Cdg |
|
High palate, Decreased liver function, Abnormal uvula morphology, Macroglossia, Microcephaly, Coa... |
ORPHA:79321 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Wide mouth, Malar prominence, Narrow face, Short stature, Scoliosis, Hypoplasia of... |
ORPHA:2715 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Lumbar hyperlordosis, Cleft palate, Long clavicles, Aplasia/Hypoplasia of the clav... |
ORPHA:2839 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Postnatal growth retardation, Cleft palate, Craniosynostosis, Prominence of the ... |
OMIM:265050 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Microcephaly, Scol... |
ORPHA:250989 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Microcephaly, Patent ductus arteriosus, Chiari malformation, Porencephalic ... |
ORPHA:254351 |
| Fryns Syndrome |
|
Cleft palate, Hypoplasia of the optic tract, Short neck, Ventricular septal defect, Hypoplasia of... |
OMIM:229850 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Micrognathia, Scoliosis, Deep philtrum, Abnormal facial shape, ... |
ORPHA:329178 |
| Cardiofaciocutaneous Syndrome 1 |
|
High palate, Pectus excavatum, Abnormality of the dentition, Short neck, Pectus carinatum, Open m... |
OMIM:115150 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
| Caudal Regression Syndrome |
|
Anal atresia, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Scoliosis, Pectus carinatum, Cerebral cavernous ... |
OMIM:619910 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Dental malocclusion, Thoracic scoliosis, Band keratopathy, Fragile teeth, Selective tooth agenesi... |
ORPHA:2959 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Persistence of primary teeth, Malar flattening, Ectopia pupillae, Facial asy... |
OMIM:618727 |
| 7Q11.23 Microduplication Syndrome |
|
High palate, Pectus excavatum, Craniosynostosis, Overfolded helix, Hemivertebrae, Short philtrum,... |
ORPHA:96121 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Sensorineural hearing impairment, Kyphoscoliosis, Severe short stature, Malar flattening, Cleft p... |
OMIM:215100 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Anodontia, Pectus excavatum, Everted lower lip vermilion, Short stature, Oligodontia, S... |
ORPHA:276630 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Short philtrum, Radioulnar synos... |
OMIM:194190 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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High palate, Dental malocclusion, Pectus excavatum, Spherophakia, Shallow anterior chamber, Malar... |
OMIM:601552 |
| Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... |
OMIM:130720 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Protruding ear, Micrognathia, Scoliosis, Macrotia, Patellar hypoplasia |
OMIM:251240 |
| Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Hemivertebrae, Tracheoesophageal fistula, Aplas... |
ORPHA:138 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Short stat... |
OMIM:129400 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pectus excavatum, Joint dislocation, Irregularly spaced teeth, Short stature, Hyperextensibility ... |
OMIM:130000 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Cataract, Severe short stature, High, narrow palate, Ret... |
ORPHA:2780 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Prominence of the premaxilla, Short stature,... |
OMIM:614886 |
| Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricepha... |
OMIM:101600 |
| Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, High palate, Abnormal clavicle morphology, Butterfly vertebrae, Aplas... |
ORPHA:958 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Malar flattening, Craniosynostosis, Microtia, Micrognathia, Cleft ... |
ORPHA:2145 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Intrauterine growth retardation, Severe short stature, Retrognathia, Dolichocephaly, Scoliosis, H... |
OMIM:617352 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Pectus excavatum, Congenital hip dislocation, Microcornea, Pectus carinatum, Umbilic... |
ORPHA:536545 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Severe short stature, Cleft palate, Camptodactyly of finger, Scoliosis, L... |
ORPHA:2635 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Membranous subvalvular aortic stenosis, Short stature, Micrognathia, Short neck, Scolio... |
ORPHA:3191 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... |
ORPHA:95430 |
| Achondrogenesis Type 1B |
|
Narrow chest, Severe short stature, Micrognathia, Short neck, Long philtrum, Abnormal rib morphol... |
ORPHA:93298 |
| Osteogenesis Imperfecta, Type Xx |
|
Narrow chest, High palate, Plagiocephaly, Kyphoscoliosis, Narrow palate, Asymmetry of the thorax,... |
OMIM:618644 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Holoprosencephaly |
OMIM:617967 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Low-set ears, Malar flattening, Short stature, Scoliosis, Wormian bones, Genu varum,... |
OMIM:269300 |
| Goldberg-Shprintzen Syndrome |
|
Corneal ulceration, Everted lower lip vermilion, Short philtrum, Megalocornea, Short neck, Hypopl... |
OMIM:609460 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dysgenesis of the cerebellar vermis, Rhizomelic arm shortening, Abnormal optic disc morphology, T... |
ORPHA:397715 |
| Melnick-Needles Syndrome |
|
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Tooth malposition, Short statu... |
ORPHA:2484 |
| Myopathy, Congenital, Bailey-Bloch |
|
High palate, Conductive hearing impairment, Kyphoscoliosis, Cleft palate, Short stature, Microgna... |
OMIM:255995 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Short stature, Tet... |
OMIM:612946 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Severe short stature, Cerebral atrophy, Aspiration pneumon... |
OMIM:619057 |
| Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Microcephaly, Anencephaly, Encephalocele, ... |
ORPHA:63862 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormality of the dentition, Delayed eruption of teeth, Microdont... |
ORPHA:289 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... |
ORPHA:1120 |
| Trisomy 18 |
|
Anal atresia, Intrauterine growth retardation, Narrow palate, Atrial septal defect, Cleft palate,... |
ORPHA:3380 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
| Hamamy Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, High palate, Pectus excavatum, Atrial sept... |
OMIM:611174 |
| Craniosynostosis And Dental Anomalies |
|
High palate, Delayed eruption of teeth, Sagittal craniosynostosis, Hypoplasia of the maxilla, Sca... |
OMIM:614188 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Hypoplasia of the pons, Scoliosis, Fusion ... |
OMIM:617542 |
| Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Narrow mouth, Microtia, Pulmonic stenosis, Micrognathia, Short sta... |
ORPHA:314679 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... |
OMIM:271530 |
| Pfeiffer Syndrome |
|
High palate, Short stature, Facial asymmetry, Short philtrum, Synostosis of carpal bones, Short n... |
ORPHA:710 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Intrauterine growth retardation, Short stature, Micrognathia, Scoliosis, Delayed erupti... |
ORPHA:2050 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Cleft palate, Short neck, Abnormality of the to... |
ORPHA:567 |
| Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300431 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Malar flattening, Short stature, Camptodactyly of finger, Scoliosi... |
ORPHA:1488 |
| Zttk Syndrome |
|
High palate, Craniosynostosis, Hemivertebrae, Abnormality of the dentition, Short philtrum, Ventr... |
OMIM:617140 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Platyspondyly, Cataract, Midface retrusion, Spondylolisthesis, Mi... |
OMIM:108300 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
High palate, Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypop... |
OMIM:619072 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Barrel-shaped chest, Microcephaly, Shield ches... |
OMIM:300712 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... |
OMIM:618280 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Scoliosis, Ventricular septa... |
ORPHA:1937 |
| Oculocerebrodental Syndrome |
|
Dysplastic corpus callosum, Stroke, Focal white matter lesions, Short stature, Scoliosis, Hyperlo... |
ORPHA:557003 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Cleft palate, Microtia, Short statur... |
ORPHA:1988 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... |
ORPHA:96334 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Tongue fasciculations, Atrial septal defect, Recurrent respiratory inf... |
OMIM:253300 |
| Split Lower Lip |
|
Abnormality of the dentition, Narrow maxilla, Lower lip pit, Abnormality of lower lip |
OMIM:183400 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Cleft palate, Short umbilical cord, Short neck, Microcephaly, Ce... |
OMIM:256520 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Kyphosis, Abnormality of the tongue, Cleft palate, Short stature, Pulmonic stenosis,... |
ORPHA:3098 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Kyphosis, Scoliosis |
OMIM:611225 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Low-set, posterio... |
ORPHA:1486 |
| Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Carious teeth, Ventricular septa... |
OMIM:613680 |
| Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300602 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Short stature, Craniofacial osteosclerosis, Mandibular prognathia, Hearing impair... |
OMIM:122860 |
| Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Short neck, Scoliosis, Genu valgum |
OMIM:168400 |
