| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Frontal bossing, Narrow chest, Pectus carinatum, Mandibular prognathia, Kyphosis, Pect... |
OMIM:300676 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Macrotia, Supernumerary ribs, Abnormal facial shape, Vertebral fusion, Dextrocardia, Cleft palate... |
OMIM:221950 |
| Mcdonough Syndrome |
|
Scoliosis, Open bite, Short philtrum, Underdeveloped nasal alae, Macrotia, Low-set, posteriorly r... |
ORPHA:2471 |
| Auriculocondylar Syndrome 2 |
|
Short mandibular rami, Round face, Narrow mouth, Dental crowding, Overfolding of the superior hel... |
OMIM:614669 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Attach... |
ORPHA:1327 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Depressed nasal bridge, Dental malocclusion, Patchy distortion of vertebrae, Large ea... |
OMIM:155050 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Herniation of interve... |
OMIM:601216 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Abnormality of the temporomandibular joint, Facial... |
ORPHA:477781 |
| Maxillonasal Dysplasia |
|
Scoliosis, Patchy distortion of vertebrae, Open bite, Short nose, Midface retrusion, Flat face, M... |
ORPHA:1248 |
| Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... |
ORPHA:2673 |
| Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Pectus... |
ORPHA:776 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... |
ORPHA:2972 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Osteopo... |
OMIM:156510 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Hemifacial atrophy, Kyphosis, Short mandibular rami, Dental malocclusi... |
OMIM:141300 |
| Alpha-Mannosidosis |
|
Scoliosis, Open bite, Narrow palate, Mandibular prognathia, Corneal opacity, Abnormality of the h... |
ORPHA:61 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Thickened helices, Atrial septal defect, Narrow mouth, Pectus carinatum, Wide nasa... |
ORPHA:261295 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventricular sept... |
ORPHA:1926 |
| Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
|
Disproportionate short-trunk short stature, Thoracolumbar scoliosis, Abnormality of the maxilla, ... |
ORPHA:329252 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... |
ORPHA:401942 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Facial asymmetry, Hypoplasia of the maxilla |
OMIM:133900 |
| Three M Syndrome 2 |
|
Triangular face, High palate, Short neck, Depressed nasal bridge, Hyperlordosis, Long philtrum, S... |
OMIM:612921 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Sensorineural hearing impairment, Triangular mouth, Micrognathia, Depressed nasa... |
OMIM:616331 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Flat face, Sensorineural hearing impairment, Malar flattening, Hypoplasia of the maxilla |
OMIM:122880 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Short stature, Dental m... |
ORPHA:1858 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Macrotia, Mandibular prognathia, Narrow face, Long face, Brachycephaly, Short stature, Hypoplasia... |
ORPHA:93950 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Enlarged thorax,... |
ORPHA:2570 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Cataract... |
ORPHA:90653 |
| X-Linked Intellectual Disability, Porteous Type |
|
Short philtrum, Bulbous nose, Macrotia, Mandibular prognathia, Cupped ear, Narrow face, Long face... |
ORPHA:93945 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Atrial septal defect, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flatte... |
OMIM:241310 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Cervical segmentation defect, Short neck, Frontal bossing, Elbow dislocation, Midface ... |
OMIM:108721 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short neck, Underdeveloped nasal alae, Macrotia, Diastema, Abnormal facial shape, Attached earlob... |
ORPHA:436245 |
| Aarskog-Scott Syndrome |
|
Oral cleft, Megalocornea, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, ... |
ORPHA:915 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia |
OMIM:119540 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:1908 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature |
OMIM:616108 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Atrial septal defect, Cuboid-shaped thoracolumbar vertebral bodies, Pectus carinat... |
OMIM:249630 |
| Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Posterior helix pit, Narrow palate, Dental malocclusion, Increased overbite, High ... |
OMIM:613684 |
| Catel-Manzke Syndrome |
|
Short neck, Ventricular septal defect, Pectus carinatum, Pectus excavatum, Abnormality of the pin... |
OMIM:616145 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Right ao... |
OMIM:231060 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormality of the antihelix, Atrial septal defect, Accessory oral frenulum, Large earlobe, Absen... |
ORPHA:79113 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Midface retrusion, Abnormality of the dentition, Short stature, Broad nasal tip, Hypoplasia of th... |
ORPHA:2776 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Midface retrusion, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisor... |
OMIM:618737 |
| Mcdonough Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Mandibular pro... |
OMIM:248950 |
| Auriculocondylar Syndrome 1 |
|
Round face, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyl... |
OMIM:602483 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Craniosynostosis, Prominent nasal bridge, Abnormal facial shape, Hypoplasia of the maxilla |
OMIM:608432 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Persistent open anter... |
ORPHA:1798 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Iris coloboma, Triangular face, ... |
OMIM:253250 |
| Osteolysis Syndrome, Recessive |
|
Short stature, Broad nasal tip, Knee flexion contracture, Elbow flexion contracture, Hypoplasia o... |
OMIM:259610 |
| Cleft Velum |
|
Conductive hearing impairment, Short face, Aspiration pneumonia, Cleft soft palate, Velopharyngea... |
ORPHA:99772 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Delayed eruption of teeth, Camptodactyly of finger, Abnormality of the philtrum, T... |
ORPHA:2863 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Median cleft lip and palate, Absent nasal septal cartilage, Short n... |
OMIM:610828 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Anencephaly, Ectopic anus, Hypoplastic left heart, Cleft... |
ORPHA:2476 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Midface retrusion, Complete atrioventricular canal defect, Diastema,... |
OMIM:619142 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology, Growth delay, Leukoencephalopathy, Short stature... |
OMIM:617744 |
| Crouzon Disease |
|
Narrow palate, Frontal bossing, Narrow internal auditory canal, Midface retrusion, Conductive hea... |
ORPHA:207 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... |
ORPHA:88661 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Flat face, Rieger anomaly, Sensorineural hearing impairment,... |
OMIM:109120 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Rhombencephalosynapsis, Abno... |
ORPHA:280195 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, Thin upper l... |
OMIM:617877 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Narrow mouth, Short nose, Flat face, Ulnar deviation of the wrist, Narro... |
ORPHA:1529 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormal form of the vertebral bodies, Holoprosencepha... |
ORPHA:1590 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Cubitus valgus, Genu valgum, Long thorax, Abnormal rib cage morphology, Disharmonious carpal bone... |
OMIM:608154 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Large fontanelles,... |
OMIM:257850 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... |
OMIM:611134 |
| Harrod Syndrome |
|
Scoliosis, Narrow mouth, Abnormal shoulder morphology, Kyphosis, Cataract, Narrow face, Long face... |
ORPHA:2115 |
| Premature Aging Syndrome, Penttinen Type |
|
Scoliosis, Wormian bones, Delayed eruption of teeth, Thin vermilion border, Thin calvarium, Midfa... |
OMIM:601812 |
| Martsolf Syndrome 1 |
|
Short philtrum, Developmental cataract, Tooth malposition, Pectus carinatum, Pectus excavatum, Pr... |
OMIM:212720 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... |
OMIM:616367 |
| Fetal Trimethadione Syndrome |
|
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, High palate, Intrauterine... |
ORPHA:1913 |
| Intellectual Disability, Buenos-Aires Type |
|
Open bite, Biparietal narrowing, Abnormality of dental morphology, Macrotia, Cuboid-shaped thorac... |
ORPHA:3079 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dysphagia, ... |
ORPHA:89844 |
| Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Microretrognathia, Abnormality of the pinna, Cleft palate, High palate, Hypoplasia ... |
OMIM:246560 |
| Holoprosencephaly 9 |
|
Prominent antihelix, Hypoplasia of the premaxilla, Short philtrum, Macrotia, Midface retrusion, A... |
OMIM:610829 |
| 22Q11.2 Duplication Syndrome |
|
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Growth delay, Aplasia/Hypoplasia o... |
ORPHA:1727 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormal s... |
ORPHA:93262 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect |
OMIM:613751 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Short thorax, Pulmonary hypoplasia, Micrognathia, Hypoplasia of the maxilla |
OMIM:601809 |
| Acrocephalopolysyndactyly Type Iii |
|
Craniosynostosis, Dental crowding, Oxycephaly, Flat face, Mandibular prognathia, Abnormality of t... |
OMIM:101120 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal calcification, Proportionate short stature, Postnatal growth retardation, Pulmonary arte... |
ORPHA:79345 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Torus palatinus, Clavicular sclerosis, Sensorineural hearing impairment... |
OMIM:144750 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Scoliosis, Respiratory tract infection, Short nose, Macrotia, Facial asymmetry, Wide nasal bridge... |
OMIM:218000 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Ventr... |
OMIM:208530 |
| Craniolenticulosutural Dysplasia |
|
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypopl... |
ORPHA:50814 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Narrow palate, Open mouth, Sensorineural hearing impairment, High palate, Coarse facia... |
ORPHA:192 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Intraute... |
OMIM:270100 |
| Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation |
|
Camptodactyly of finger, Protruding ear, Short stature, High palate, Prominent nasal bridge, Hypo... |
ORPHA:85279 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion |
OMIM:612529 |
| Otodental Syndrome |
|
Progressive sensorineural hearing impairment, Carious teeth, Abnormal dental enamel morphology, P... |
ORPHA:2791 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Hypoplastic frontal sinuses, Wide nasal bridge, Median cleft palat... |
OMIM:136760 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Subvalvular aortic stenosis, Round face, Narrow mouth, Anteverted nares, Membranous subvalvular a... |
OMIM:271960 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Unilateral vertebral artery hypoplasia, Dextrocardia, Short stature, Spin... |
OMIM:613686 |
| Thoraco-Abdominal Enteric Duplication |
|
Abnormal tricuspid valve morphology, Intestinal malrotation, Meningocele, Dextrocardia, Duodenal ... |
ORPHA:1759 |
| Kagami-Ogata Syndrome |
|
Long philtrum, Atrial septal defect, Frontal bossing, Ventricular septal defect, Bell-shaped thor... |
OMIM:608149 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Cleft ... |
OMIM:601355 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal, Pectus excavatu... |
OMIM:264475 |
| Neu-Laxova Syndrome 2 |
|
Scoliosis, Short neck, Abnormality of the pinna, Cleft palate, Intrauterine growth retardation, H... |
OMIM:616038 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia |
ORPHA:2975 |
| Frontometaphyseal Dysplasia 1 |
|
Scoliosis, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture... |
OMIM:305620 |
| Larsen-Like Syndrome |
|
Wide anterior fontanel, Frontal bossing, Absent nasal bridge, Conductive hearing impairment, Flat... |
OMIM:608545 |
| Pentalogy Of Cantrell |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Abnormal sternum ... |
ORPHA:1335 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Elbow dislocation, High p... |
ORPHA:1106 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Short philtrum, Atrial septal defect, Thick lower lip vermilion, Ventricular septal de... |
OMIM:608227 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... |
OMIM:273050 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, O... |
ORPHA:199306 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Mandibular prognathia, Postnatal growth retardation, Caudal in... |
ORPHA:439822 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Broad skull, Shallow anterior chamber, Narrow palate, Tooth malposition, Abnormality o... |
OMIM:277600 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... |
OMIM:606217 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, High palate, Advanced ossification of carpal bones, Micrognathia, Hyper... |
OMIM:618363 |
| Heart And Brain Malformation Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Interrupted aortic arch, Global brain atrophy, Ventric... |
OMIM:616920 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Frontal bossing, Dental crowding, Conductive hearing impairment, Abn... |
OMIM:123500 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla, Drooling |
OMIM:618383 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... |
OMIM:614188 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
| Pycnodysostosis |
|
Scoliosis, Wormian bones, Carious teeth, Delayed eruption of primary teeth, Narrow palate, Absent... |
OMIM:265800 |
| Cerebellofaciodental Syndrome |
|
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngeal stridor, La... |
OMIM:616202 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Anteverted nares, Abnormal t... |
ORPHA:2412 |
| Mosaic Trisomy 20 |
|
Scoliosis, Narrow chest, Ventricular septal defect, Dysplastic tricuspid valve, Abnormal mitral v... |
ORPHA:1724 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Carpal osteolysis, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla |
OMIM:166300 |
| Axenfeld-Rieger Syndrome |
|
Midface retrusion, Everted lower lip vermilion, Posterior embryotoxon, Aplasia/Hypoplasia of the ... |
ORPHA:782 |
| Potocki-Lupski Syndrome |
|
Scoliosis, Atrial septal defect, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philt... |
OMIM:610883 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... |
ORPHA:3426 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Delayed eruption of teeth, Carious teeth, Hyperlordosis, Narrow palate, Long philtrum,... |
OMIM:190350 |
| Carpenter Syndrome 1 |
|
Scoliosis, Lambdoidal craniosynostosis, Sensorineural hearing impairment, Spina bifida occulta, H... |
OMIM:201000 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... |
OMIM:182940 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections, Conjuncti... |
ORPHA:2399 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Micrognathia, Widely-spaced maxillary central incis... |
ORPHA:363417 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Short philtrum, Atrial septal defect, Frontal bossing, Ventricular septal defect, Abnormally fold... |
OMIM:309520 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... |
ORPHA:294975 |
| Shashi-Pena Syndrome |
|
Scoliosis, Atrial septal defect, Kyphosis, Posteriorly rotated ears, Long face, Broad nasal tip, ... |
OMIM:617190 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... |
ORPHA:2790 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Frontal bossing, Overfolded helix, Hypoplastic helices, Open mouth, Plagioc... |
OMIM:619149 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Bulbous nose, Stillbirth, Cerebellar hypoplasia, Neonatal death, Hyd... |
OMIM:236500 |
| Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Midface retrusion, Pectus carinatum, Mandibular prognathia, Everted lower lip vermilion, Thick ve... |
OMIM:603463 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis |
OMIM:617577 |
| Vacterl/Vater Association |
|
Abnormality of the ribs, Anencephaly, Laryngomalacia, Intrauterine growth retardation, Cleft pala... |
ORPHA:887 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... |
OMIM:612474 |
| Ayme-Gripp Syndrome |
|
Pericarditis, Narrow mouth, Mandibular prognathia, Sensorineural hearing impairment, Broad philtr... |
OMIM:601088 |
| Cohen Syndrome |
|
Genu valgum, Short philtrum, Cubitus valgus, Open mouth, Macrodontia of permanent maxillary centr... |
OMIM:216550 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Scoliosis, Dislocated radial head, Dental crowding, Proportionate short statur... |
OMIM:210600 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... |
OMIM:615067 |
| Dextrocardia |
|
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... |
ORPHA:1666 |
| Noonan Syndrome 4 |
|
Scoliosis, Cubitus valgus, Thickened helices, Atrial septal defect, Ventricular septal defect, Ab... |
OMIM:610733 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Osteogenesis Imperfecta, Type Xii |
|
Scoliosis, Wormian bones, Delayed eruption of teeth, Narrow mouth, Midface retrusion, Pectus cari... |
OMIM:613849 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
| Meier-Gorlin Syndrome 4 |
|
Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Genu recurvatum, Emphysema, Birth... |
OMIM:613804 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Scoliosis, Oligodontia, Scapular winging, Bulbous nose, Prominent frontal sinu... |
OMIM:170390 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Delayed puberty, Supe... |
ORPHA:3145 |
| Limb Body Wall Complex |
|
Short umbilical cord, Choanal atresia, Iris coloboma, Corneal opacity, Abnormal thorax morphology... |
ORPHA:2369 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Kyphosis, Posteriorly rotated ears, High palate, Retrognathia, Micrognathia |
OMIM:618393 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Short philtrum, Abnormal heart morphology, Mandibular prognathia, Everted lower lip vermilion, An... |
OMIM:601499 |
| Marshall Syndrome |
|
Hypoplastic frontal sinuses, Sensorineural hearing impairment, High palate, Micrognathia, Osteoar... |
ORPHA:560 |
| Hallermann-Streiff Syndrome |
|
Scoliosis, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasa... |
OMIM:234100 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Micrognathia, Cataract, Prominent nose |
OMIM:614882 |
| Catel-Manzke Syndrome |
|
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Low-set, pos... |
ORPHA:1388 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... |
OMIM:615482 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Moderately short stature, Delayed eruption of teeth, Platyspondyly, Dislocated radial head, Campt... |
OMIM:612350 |
| Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Patent ductus arteriosus,... |
OMIM:269860 |
| 8P23.1 Microdeletion Syndrome |
|
Short nose, Enlarged thorax, High palate, Growth delay, Patent ductus arteriosus, Abnormal aortic... |
ORPHA:251071 |
| Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Macrotia, Midface retrusion, Downturned corners of mo... |
OMIM:269880 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Macrotia, High, narrow palate, Flat occiput, Cataract, Atlantoaxial abnormality, Short stature, K... |
ORPHA:3433 |
| Cohen Syndrome |
|
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Iris coloboma, Delayed puberty, Sensorin... |
ORPHA:193 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Severe platyspondyly, Postnatal gro... |
OMIM:608940 |
| Weill-Marchesani Syndrome 2 |
|
Scoliosis, Narrow palate, Proportionate short stature, Lens luxation, High palate, Elbow flexion ... |
OMIM:608328 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posteriorly rotated ears, Conductive... |
ORPHA:1307 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis, Abnormality of the antihelix, Short philtrum, Tooth malposition, Midfac... |
ORPHA:1387 |
| Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Anteverted nares, Thick upper lip vermilion, Micrognathia, Coarse fac... |
OMIM:617616 |
| Van Maldergem Syndrome 2 |
|
Scoliosis, Downturned corners of mouth, Narrow chest, Atresia of the external auditory canal, Sen... |
OMIM:615546 |
| Craniofaciofrontodigital Syndrome |
|
Long philtrum, Cubitus valgus, Short nose, Frontal bossing, Abnormal heart morphology, Anteverted... |
OMIM:114620 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia |
OMIM:611884 |
| Acrodysostosis |
|
Open bite, Delayed eruption of teeth, Short nose, Open mouth, Abnormal form of the vertebral bodi... |
ORPHA:950 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Corneal opacity, Small anterior f... |
ORPHA:2409 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Narrow mouth, Low-set, posteriorly rotated ears, Umbilical hernia, ... |
ORPHA:2166 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperopic astigmatism, Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
| Frank-Ter Haar Syndrome |
|
Wormian bones, Megalocornea, Double outlet right ventricle, High palate, Mitral valve prolapse, M... |
OMIM:249420 |
| Saethre-Chotzen Syndrome |
|
Scoliosis, Open bite, Abnormality of the antihelix, Craniosynostosis, Narrow palate, Narrow inter... |
ORPHA:794 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Anal a... |
OMIM:220210 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Van Maldergem Syndrome 1 |
|
Scoliosis, Downturned corners of mouth, Narrow chest, Atresia of the external auditory canal, Sen... |
OMIM:601390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Scoliosis, Hypoplasia of the brainstem, Atrial septal defect, Pachygyria, Type II lissencephaly, ... |
OMIM:253800 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... |
OMIM:300280 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Biparietal narrowing, Microretrognathia, Abnormality of the pinna, Thick vermilion... |
ORPHA:228396 |
| Marden-Walker Syndrome |
|
Scoliosis, Long philtrum, Short neck, Wide anterior fontanel, Narrow mouth, Radioulnar synostosis... |
OMIM:248700 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Craniosynostosis, Narrow palate, High palate, Mitral valve prolapse, Micrognathia, Sup... |
OMIM:182212 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Platyspondyly, Short philtrum, Short neck, Frontal bossing, Large f... |
ORPHA:93267 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Porencephalic cyst, Atrial septal defect, Patent ductus arteriosus, Arnold-Chiari malformation, M... |
ORPHA:254351 |
| Auriculocondylar Syndrome |
|
Narrow mouth, Difficulty in tongue movements, Dental crowding, Low-set, posteriorly rotated ears,... |
ORPHA:137888 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Abnormality of the antihelix, Craniosynostosis, Camptodactyly of finger, Abnormali... |
ORPHA:178303 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Severe short sta... |
OMIM:203550 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Porencephalic cyst, Ventricular septal defect, Posterior rib gap, Kyphosis, Bell-sh... |
ORPHA:1393 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Narrow chest, Cerebellar vermis hypoplasia, Anencephaly, Short ribs, Polymi... |
OMIM:616546 |
| Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Prominence of the premaxilla, Round face, Short nose, Open mouth, Everted lower li... |
OMIM:137550 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Pyle Disease |
|
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... |
OMIM:265900 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Anotia, Macrotia, Midface retrusion, Choanal atresia, Acetabular dysplasia, Short stature, Cleft ... |
OMIM:616462 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... |
OMIM:601322 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Scoliosis, Mandibular prognathia, Hypoplastic vertebral bodies, Disproportionate short-limb short... |
OMIM:101800 |
| Microgastria-Limb Reduction Defects Association |
|
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Gastroesophageal reflu... |
OMIM:156810 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, T... |
OMIM:603387 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Narrow chest, Vent... |
ORPHA:1354 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Scoliosis, Long philtrum, Round face, Short neck, Macrotia, Abnormal heart morphology, Everted lo... |
ORPHA:96092 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Mandibular prognathia, Diastema, Pectus excavatum, Smooth philtrum, Thin upper lip verm... |
OMIM:300534 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Conductive hearing impairment, Atresia of the external auditory canal,... |
ORPHA:2980 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Ventricular septal defect, Hemivertebrae, Cervical C2/... |
ORPHA:1780 |
| Non-Distal Trisomy 10Q |
|
Scoliosis, Short nose, Frontal bossing, Low-set, posteriorly rotated ears, Everted lower lip verm... |
ORPHA:1695 |
| Frontorhiny |
|
Scoliosis, Camptodactyly of finger, Midline nasal groove, Low-set, posteriorly rotated ears, Hypo... |
ORPHA:391474 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Congenital hip dislocation, Midface retrusion, Kyphosis, Abnormality of the pinna, Mic... |
OMIM:618291 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Craniosynostosis, Atrial septal defect, Abnormal vertebral morphology, Abnormal heart ... |
ORPHA:261197 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormality of the vertebral column, Hydrocephalus, Abnormal vertebral morphology, Anal atresia, ... |
OMIM:314390 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Prominent nasal bridge, Dental crowding, Kyphosis, Posteriorly rotated ... |
OMIM:300831 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Conjunctival hyperemia, Abnormality of the pinna, Wide nasal bridge, C... |
OMIM:167730 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... |
ORPHA:1801 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Ulnar radial head dislocation, Hypoplasia of the maxilla |
OMIM:264270 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... |
OMIM:618254 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed closure of the anterior fontanelle, Bulbous nose, Corneal opacity, Interphalangeal joint ... |
OMIM:259600 |
| Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palate, High, narrow palate, E... |
OMIM:600920 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Frontal bossing, Narrow chest, Low-set, posteriorly rotated ... |
ORPHA:1703 |
| Marshall-Smith Syndrome |
|
Scoliosis, Prominence of the premaxilla, Overfolded helix, Choanal atresia, Depressed nasal bridg... |
OMIM:602535 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Sensorineural hearing impairment, Short st... |
ORPHA:2662 |
| Shprintzen-Goldberg Syndrome |
|
Scoliosis, Craniosynostosis, Narrow chest, Elbow dislocation, Mitral valve prolapse, High, narrow... |
ORPHA:2462 |
| Mohr Syndrome |
|
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Broad nasal tip, ... |
OMIM:252100 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... |
OMIM:600001 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Abnormal palate morpho... |
ORPHA:245 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Pectus exc... |
ORPHA:77300 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Pectus carinatum, Abnormality of t... |
ORPHA:3268 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Mandibular prognathia, Long face, Dental malocclusion |
OMIM:608931 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Tetralog... |
ORPHA:261243 |
| Meckel Syndrome, Type 1 |
|
Intestinal malrotation, Patent ductus arteriosus, Anencephaly, Lobulated tongue, Arnold-Chiari ma... |
OMIM:249000 |
| Zimmermann-Laband Syndrome |
|
Macroglossia, Short neck, Gingival fibromatosis, Bulbous nose, Growth delay, Wide mouth, Hypodont... |
ORPHA:3473 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Hearing impairment, Right ventricula... |
OMIM:614261 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Short neck, Abnormal vertebral morphology, Elbow ankylosis, Facial asymmetry, Long face, Kyphosco... |
ORPHA:96183 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, Growth delay, Cataract, Microcornea, Brachycephaly, Short stature, High palate, Ret... |
ORPHA:2528 |
| Aarskog-Scott Syndrome |
|
Scoliosis, Round face, Short nose, Mild short stature, Hypoplasia of the odontoid process, Pectus... |
OMIM:305400 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Short philtrum, Mandibular prognathia, Kyphosis, Protruding ear, Cleft palate, Promine... |
ORPHA:85317 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Myopathy, Myofibrillar, 8 |
|
Scoliosis, Scapular winging, Pectus excavatum, Joint contracture of the 5th finger, Long face, Sp... |
OMIM:617258 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Abdominal situs inversus, Intestinal malrotation, Dextrocardia, Double ou... |
OMIM:605376 |
| Cowden Syndrome 5 |
|
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... |
OMIM:615108 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Scoliosis, Atrial septal defect, Cerebral white matter atroph... |
ORPHA:435638 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Optic... |
ORPHA:1528 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Chronic bronch... |
OMIM:616037 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Dental crowding, Macrotia, Kyphosis, Thick vermilion border, Hypodontia, High palate,... |
OMIM:617061 |
| Grant Syndrome |
|
Open bite, Wormian bones, Abnormality of the ribs, Abnormality of the glenoid fossa, Large fontan... |
ORPHA:2097 |
| Cleidocranial Dysplasia |
|
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Large font... |
ORPHA:1452 |
| Sclerosteosis 1 |
|
Broad ribs, Frontal bossing, Midface retrusion, Mandibular prognathia, Sclerotic vertebral endpla... |
OMIM:269500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cerebellar hypop... |
OMIM:615287 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of ... |
ORPHA:370959 |
| Jackson-Weiss Syndrome |
|
Frontal bossing, Midface retrusion, Mandibular prognathia, Abnormal palate morphology, Turricepha... |
ORPHA:1540 |
| Muenke Syndrome |
|
Midface retrusion, Plagiocephaly, Capitate-hamate fusion, Hearing impairment, Sensorineural heari... |
OMIM:602849 |
| Short Rib-Polydactyly Syndrome |
|
Gastrointestinal atresia, Narrow chest, Intestinal malrotation, Horizontal ribs, Disproportionate... |
ORPHA:1505 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Scoliosis, Craniosynostosis, Narrow chest, Postnatal growth retardation, Hemivertebrae, High pala... |
OMIM:213980 |
| Geroderma Osteodysplasticum |
|
Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Mandibular... |
OMIM:231070 |
| Nablus Mask-Like Facial Syndrome |
|
Long philtrum, Craniosynostosis, Narrow mouth, Frontal bossing, Short nose, Smooth philtrum, Abno... |
OMIM:608156 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Long philtrum, Thin vermilion border, Thoracic kyphoscoliosis, Bulbous nose, Macrotia, Overfolded... |
ORPHA:481152 |
| Distal Trisomy 5Q |
|
Long philtrum, Carious teeth, Craniosynostosis, Thin vermilion border, Narrow mouth, Short nose, ... |
ORPHA:96097 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Pulmonary artery stenosi... |
ORPHA:2255 |
| Congenital Herpes Simplex Virus Infection |
|
Intrauterine growth retardation, Microcephaly, Hydranencephaly |
ORPHA:293 |
| Treacher-Collins Syndrome |
|
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... |
ORPHA:861 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Long philtrum, Elbow dislocation, Triangular face, Birth length less than 3rd perc... |
OMIM:613805 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hypoplastic helices, Thin calvarium, Low-set, posteriorly rotated... |
ORPHA:2437 |
| Momo Syndrome |
|
Delayed eruption of teeth, Long philtrum, Frontal bossing, Taurodontia, Thick lower lip vermilion... |
OMIM:157980 |
| Apert Syndrome |
|
Narrow palate, Large fontanelles, Mandibular prognathia, Choanal atresia, Sensorineural hearing i... |
ORPHA:87 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Oligodontia, Conductive hearing impairment, Abnormality of the dentition, Umbilical hernia, Brach... |
ORPHA:2095 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Wormian bones, Platyspondyly, Pectus carinatum, Decreased calvarial ossification, Kyph... |
OMIM:259440 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Scoliosis, Short philtrum, Recurrent bronchitis, Drooling, Frontal bossing, Un... |
OMIM:619293 |
| Constricting Bands, Congenital |
|
Scoliosis, Ectopia cordis, Abnormal rib cage morphology, Cleft upper lip, Cleft palate, Abnormal ... |
OMIM:217100 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Scoliosis, Abnormality of the antihelix, Narrow mouth, Downturned corners of mouth, Underdevelope... |
ORPHA:1968 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Platyspondyly, Trismus, Kyphoscoliosis |
OMIM:616583 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Corneal opacity, Grayish enamel, Abn... |
ORPHA:582 |
| X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Abnormal mitral valve morphology, Conductive hearing impairment, Low-set, post... |
ORPHA:1131 |
| Ververi-Brady Syndrome |
|
Scoliosis, Bulbous nose, High palate, Intrauterine growth retardation, Transposition of the great... |
OMIM:617982 |
| Slc35A2-Cdg |
|
Scoliosis, Cerebral white matter atrophy, Abnormal midbrain morphology, Elevated circulating thyr... |
ORPHA:356961 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... |
OMIM:618063 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... |
OMIM:192430 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Abnormality... |
ORPHA:85321 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Shield chest, Interrupted aortic arch, Ventricular septal defect, Hypoplast... |
OMIM:300712 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Carious teeth, Mandibular prognathia, Ovoid vertebral bodies, Large elbow, Grayish ena... |
OMIM:253000 |
| Cowden Syndrome 6 |
|
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... |
OMIM:615109 |
| Chromosome 15Q25 Deletion Syndrome |
|
Growth delay, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Short stat... |
OMIM:614294 |
| Meier-Gorlin Syndrome 3 |
|
Narrow mouth, Narrow chest, Triangular face, Birth length less than 3rd percentile, Bronchomalaci... |
OMIM:613803 |
| Kabuki Syndrome 2 |
|
Atrial septal defect, Broad nasal tip, Macrotia, Natal tooth, Postnatal growth retardation, Hypod... |
OMIM:300867 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... |
OMIM:614679 |
| Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Open mouth, Dental crowding, Recurrent upper respiratory tract infections, Shor... |
ORPHA:293939 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Megalocornea, High palate, Broad philtrum, Hypoplasia of the maxilla, Long... |
OMIM:211380 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Scoliosis, Long philtrum, Camptodactyly of finger, Aniridia, Mandibular prognathia, High, narrow ... |
ORPHA:1101 |
| Frank-Ter Haar Syndrome |
|
Scoliosis, Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Beaking of vertebr... |
ORPHA:137834 |
| Angelman Syndrome |
|
Scoliosis, Macroglossia, Drooling, Mandibular prognathia, Flat occiput, Wide mouth, Protruding to... |
OMIM:105830 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hypoplastic 5th lumbar vertebrae, Wormian bones, Small earlobe, Narrow mouth, Downturned corners ... |
OMIM:211910 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Narrow chest, High palate, Pyloric stenosis, Choanal atresia, Patent ductus arteriosus, Anencepha... |
OMIM:619148 |
| Schisis Association |
|
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Microcephaly, Tracheoesophageal fistula |
ORPHA:63862 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Delayed closure of the anterior fontanelle, Large fontanelles, Overfolded helix, Denta... |
OMIM:300373 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Low-set, posteriorly rotated ... |
ORPHA:1110 |
| Momo Syndrome |
|
Delayed eruption of teeth, Long philtrum, Frontal bossing, Taurodontia, Thick lower lip vermilion... |
ORPHA:2563 |
| Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal, Sm... |
OMIM:224690 |
| Myhre Syndrome |
|
Platyspondyly, Thin vermilion border, Abnormality of the ribs, Narrow mouth, Midface retrusion, C... |
ORPHA:2588 |
| Meckel Syndrome, Type 10 |
|
Sacral dimple, Molar tooth sign on MRI, Anencephaly, Cleft palate |
OMIM:614175 |
| Robinow Syndrome |
|
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Micrognathia, Depressed ... |
ORPHA:97360 |
| Cri-Du-Chat Syndrome |
|
Scoliosis, Short philtrum, Round face, Downturned corners of mouth, Thick lower lip vermilion, Mi... |
OMIM:123450 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Abnormal facial shape, Limitation of knee mobility, Triangular face, Protruding ear... |
ORPHA:319171 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Type II lissencephaly, Postna... |
ORPHA:300570 |
| Mental Retardation, Autosomal Dominant 23 |
|
Scoliosis, Hyperlordosis, Long philtrum, Drooling, Downturned corners of mouth, Dental crowding, ... |
OMIM:615761 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Growth delay, Paten... |
OMIM:179613 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, High palate, Cerebellar hypoplasi... |
OMIM:619072 |
| Intermediate Osteopetrosis |
|
Abnormality of dental morphology, Back pain, Abnormality of the dentition, Osteosclerosis of the ... |
ORPHA:210110 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Short philtrum, Short nose, Mandibular prognathia, Kyphosis, Everted lower lip vermili... |
ORPHA:2429 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Posterior rib fusion, Intestinal malrotation, Patent ductus ... |
OMIM:265380 |
| Trisomy 18 |
|
Abnormality of the ribs, Spina bifida, Atrial septal defect, Narrow palate, Aplasia/Hypoplasia of... |
ORPHA:3380 |
| Achard Syndrome |
|
Broad skull, Micrognathia, Brachycephaly |
OMIM:100700 |
| White Forelock With Malformations |
|
Bronchomalacia, Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... |
OMIM:606763 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary... |
OMIM:234250 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, Short neck, ... |
ORPHA:958 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Long philtrum, Short nose, Kyphosis, Delayed puberty, High palate, Micrognathia |
ORPHA:2598 |
| Autosomal Recessive Stickler Syndrome |
|
Platyspondyly, Genu valgum, Flat face, Irregular vertebral endplates, Cataract, Sensorineural hea... |
ORPHA:250984 |
| Mosaic Trisomy 9 |
|
Scoliosis, Bulbous nose, Large fontanelles, Elbow dislocation, Corneal opacity, Hemivertebrae, De... |
ORPHA:99776 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Prominent nasal bridge, Narrow palate, Short nose, Proportionate short stature, Deep philtrum, Pe... |
OMIM:227330 |
| Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth |
OMIM:300073 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Scoliosis, Postnatal growth retardation, Abnormality of the ribs, High palate, Short neck, Microg... |
OMIM:611209 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Pectus excavatum, Abnormality o... |
ORPHA:3270 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Ventricular septal defect, Portal inflammation, Cerebral atrophy, Hepatic bridging fibrosis, Elev... |
OMIM:613759 |
| Stickler Syndrome |
|
Scoliosis, Open bite, Abnormal dental enamel morphology, Sensorineural hearing impairment, Mitral... |
ORPHA:828 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Large fontanelles, Spina bifida occulta, High, narrow palate, Micrognathia, Hyperlordo... |
ORPHA:2780 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Aspi... |
OMIM:619057 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine ... |
OMIM:225790 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Frontal bossing, D... |
ORPHA:313892 |
| 3M Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Congenital hip dislocation, Enlarged ... |
ORPHA:2616 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Carious teeth, Mandibular prognathia, Ovoid vertebral bodies, Grayish enamel, Coarse f... |
OMIM:253010 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... |
ORPHA:2345 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Disproportionate short stature, Frontal bossing, Abnormal form of the v... |
ORPHA:40 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Craniosynostosis, Thin vermilion border, Downturned corners of mouth, Mandibular p... |
ORPHA:1299 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... |
OMIM:218670 |
| Craniodiaphyseal Dysplasia |
|
Frontal bossing, Craniofacial hyperostosis, Conductive hearing impairment, Wide nasal bridge, Sho... |
ORPHA:1513 |
| Charge Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Patent ductus arteriosus, Postn... |
ORPHA:138 |
| Diastrophic Dwarfism |
|
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Abnormal clavicle morphology, Hypopl... |
ORPHA:628 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... |
OMIM:618164 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Open bite, Carious teeth, Low-set, posteriorly rotated ears, Kyphosis, Abnormal palate... |
ORPHA:2617 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Scoliosis, Macrotia, Mandibular prognathia, Wide mouth, Cataract, Narrow face, Hypoplasia of the ... |
ORPHA:2715 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Scoliosis, Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the ... |
OMIM:617542 |
| Turnpenny-Fry Syndrome |
|
Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, Mitral valve pro... |
OMIM:618371 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal axo... |
OMIM:613807 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... |
OMIM:306955 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Abnormal vertebral mor... |
ORPHA:93359 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Camptodactyly of finger, Kyphosis, Cataract, Microcornea, Abnormality of the cervical ... |
ORPHA:48431 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Ventricular septal defect, Growth delay, Patent ductus arteriosus, Short stature, ... |
OMIM:147770 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Hypop... |
OMIM:612946 |
| Amelogenesis Imperfecta, Type Ih |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... |
OMIM:616221 |
| Achondrogenesis Type 1B |
|
Long philtrum, Short thorax, Disproportionate short stature, Short nose, Frontal bossing, Narrow ... |
ORPHA:93298 |
| Greenberg Dysplasia |
|
Tracheal calcification, Narrow chest, Abnormal scapula morphology, Cardiomegaly, Micrognathia, Hy... |
OMIM:215140 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Oliver Syndrome |
|
Scoliosis, Small earlobe, Short philtrum, Camptodactyly of finger, Mandibular prognathia, Knee fl... |
ORPHA:2920 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Aplasia/Hypoplasia of the scapulae, Abnormal form of the vertebral bodies, Neonatal... |
ORPHA:2839 |
| Hajdu-Cheney Syndrome |
|
Wormian bones, High palate, Short neck, Micrognathia, Coarse facial features, Vertebral compressi... |
OMIM:102500 |
| Renpenning Syndrome |
|
Narrow mouth, Mandibular prognathia, Iris coloboma, Sensorineural hearing impairment, Small face,... |
ORPHA:3242 |
| Pfeiffer Syndrome |
|
Humeroradial synostosis, Short nose, Dental crowding, Mandibular prognathia, Cloverleaf skull, Ch... |
OMIM:101600 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Narrow mouth, Dental crowding, Postnatal growth retardation, High palate, Short neck, Micrognathi... |
ORPHA:251028 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Abnormality of the vertebral column, Abnormal ver... |
OMIM:265050 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Microhydranencephaly |
|
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Short stature, M... |
OMIM:605013 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Rectovaginal fistula, Aplastic clavicle, Truncus arteriosus, Arrhinenceph... |
ORPHA:2538 |
| Mental Retardation, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Square face, Wide mouth, Thick upper lip vermilion, Postnatal growth retar... |
OMIM:309545 |
| Cerebrofacioarticular Syndrome |
|
Narrow mouth, Large fontanelles, Abnormal heart morphology, Conductive hearing impairment, Abnorm... |
ORPHA:314679 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Short philtrum, Open mouth, Synostosis of carpal bones, Flat face, Mandibular prog... |
ORPHA:710 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... |
OMIM:259420 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Growth delay, Midgut malrotat... |
ORPHA:2326 |
| 1Q21.1 Microdeletion Syndrome |
|
Scoliosis, Ankyloglossia, Bulbous nose, Hydrocephalus, Interrupted aortic arch, High palate, Pate... |
ORPHA:250989 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Codas Syndrome |
|
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... |
ORPHA:1458 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... |
OMIM:601186 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Pectus excavatum, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, ... |
ORPHA:2835 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Regional Odontodysplasia |
|
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... |
OMIM:618386 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... |
OMIM:204650 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Scoliosis, Slender nose, Short nose, Macrotia, Pectus carinatum, Wide mouth, Smooth philtrum, Tri... |
OMIM:615419 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Cofs Syndrome |
|
Camptodactyly of finger, Micrognathia, Everted lower lip vermilion, Wide nasal bridge, Cataract, ... |
ORPHA:1466 |
| Schwartz-Jampel Syndrome |
|
Scoliosis, Wormian bones, Pursed lips, Narrow mouth, Overfolded helix, Elbow dislocation, Odontog... |
ORPHA:800 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormality of the antihelix, Short neck, Frontal bossing, Conductive hearing impairment, Pectus ... |
ORPHA:3082 |
| Marden-Walker Syndrome |
|
Scoliosis, Narrow mouth, Dextrocardia, Micrognathia, Situs inversus totalis, Radioulnar synostosi... |
ORPHA:2461 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Abnormal form of the ... |
ORPHA:2916 |
| Whistling Face Syndrome, Recessive Form |
|
Prominent nasal bridge, Long philtrum, Shoulder flexion contracture, Narrow mouth, Underdeveloped... |
OMIM:277720 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... |
OMIM:618316 |
| Metatropic Dysplasia |
|
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... |
ORPHA:2635 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Scoliosis, Hypoplastic right heart, Downturned corners of mouth, Triangular mouth, Patent foramen... |
OMIM:616894 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia |
OMIM:173800 |
| Cole-Carpenter Syndrome 2 |
|
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... |
OMIM:616294 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Abnormality of the ribs, Short thorax, Posterior rib fusion, Anteverted... |
ORPHA:1797 |
| Trisomy 9P |
|
Scoliosis, Impacted tooth, Downturned corners of mouth, Macrotia, Dental crowding, Kyphosis, Sacr... |
ORPHA:236 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Atrial septal defect, Abnormal heart morphology, Dental malocclusion, Abnormal fac... |
ORPHA:363444 |
| 7Q11.23 Microduplication Syndrome |
|
Thin vermilion border, Craniosynostosis, Overfolded helix, Asymmetric crying face, Hemivertebrae,... |
ORPHA:96121 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... |
ORPHA:163979 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Joint contracture ... |
OMIM:608257 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Abnormal clavicle morphology, Short neck, Abnormality of dental morphology, Kyphos... |
ORPHA:2522 |
| Hemifacial Microsomia |
|
Anotia, Branchial anomaly, Atresia of the external auditory canal, Hemivertebrae, Sensorineural h... |
OMIM:164210 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Scapular winging, Microretrognathia, Down-sloping shoulders, Wide nasal bridge, Cu... |
OMIM:615560 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Short nose, Ventricular septal defect, Hypoplasia of the corpus callosum, Dextrotra... |
OMIM:618619 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Postnatal growth retardation, Triangular face, Spina bifida occulta, Short... |
OMIM:273750 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... |
ORPHA:2257 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615994 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... |
OMIM:256520 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Oval face, Ventricular septal defect, Conductive hearing impairment, Atresia of the external audi... |
OMIM:106260 |
| Rapp-Hodgkin Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Hypodontia, Narrow nose, Hearing i... |
OMIM:129400 |
| Spinal Muscular Atrophy, Type I |
|
Tongue fasciculations, Atrial septal defect, Recurrent respiratory infections, Ventricular septal... |
OMIM:253300 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Abnormal vocal cord morphology, Short neck, Membranous subvalvular aortic stenosis, Sy... |
ORPHA:3191 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Scoliosis, Short nose, Deep philtrum, Abnormal facial shape, Thin upper lip vermilion, Trigonocep... |
ORPHA:329178 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, Oligodontia, Persistence of primary teeth, Facial asymmetry, Wide nasal bridge... |
OMIM:618727 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... |
ORPHA:397725 |
| Antley-Bixler Syndrome |
|
Long philtrum, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Frontal bossing, Short no... |
ORPHA:83 |
| Cowden Syndrome 1 |
|
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... |
OMIM:158350 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Bulbous nose, Choanal atresia, Intestinal malrotation, Patent ductus arteriosus, Abnor... |
ORPHA:567 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Hearing impairment, Kyphosis |
OMIM:617087 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI |
OMIM:614173 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Wormian bones, Dental crowding, Atresia of the external auditory canal, Iris coloboma,... |
ORPHA:2789 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Microcephaly, Right aortic arch with mirror image branching |
OMIM:107500 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the ribs, Abnormality of the antihelix, Craniosynostosis, Short nose, Intrauterine... |
ORPHA:2145 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries |
OMIM:614779 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Conductive hearing impairment... |
ORPHA:96129 |
| Ear-Patella-Short Stature Syndrome |
|
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... |
ORPHA:2554 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Scoliosis, Mandibular prognathia, Protruding ear, Kyphosis |
OMIM:300861 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Short philtrum, Atrial septal defect, Broad nasal tip, Frontal bossing, Conductive... |
OMIM:617808 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Developmental cataract, Frontal bossing, Coronal cleft vertebrae, Flat face, Rhizomelia, Severe s... |
OMIM:215100 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Bulbous nose, Patent foramen ovale, Short neck, Transposition of the great arteries... |
OMIM:616789 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Posteriorly rotated e... |
OMIM:618392 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology, Scoliosis, Morphological abnormality of the gastrointestinal ... |
ORPHA:404440 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Irregularity of vertebral bodies, Frontal bossing, Cataract, Short stature, Malar ... |
ORPHA:85172 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Scoliosis, Pectus excavatum, Iris coloboma, Cupped ear, Sensorineural hearing impairment, Short s... |
OMIM:300472 |
| Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Severe short stature, Horizontal sacrum, Calvarial hyperostosis, Delayed eru... |
OMIM:112350 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Aplasia/Hypoplasia involving bones of the thorax, Dysgenesis of the cerebellar vermis, Abnormalit... |
ORPHA:397715 |
| Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Scoliosis, Hyperlordosis, Thoracic kyphosis, Wide nasal bridg... |
ORPHA:557003 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Narrow chest, Dextrocardia, Aplasia/Hypoplasia of the lungs, Genu valgum, ... |
ORPHA:289 |
| Takenouchi-Kosaki Syndrome |
|
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Downturned corners of mouth, Midface retr... |
OMIM:616737 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Narrow nose, Hypoplasia of the maxilla, R... |
OMIM:101400 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Wormian bones, Absent glenoid fossa, Narrow mouth, Narrow chest, Mandibular prognathia... |
ORPHA:96334 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Scoliosis, Short philtrum, Atrial septal defect, Narrow mouth, Abnormal heart morphology, Kyphosi... |
ORPHA:352490 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Downturned corners of mouth, Iris coloboma, Oral cleft, Ectopia pupillae, Sensorineura... |
OMIM:194190 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Genu valgum, Frontal bossing, Anteverted nares, Genu recurvatum, Kyphosis, Maxillary l... |
OMIM:300431 |
| Cerebellar-Facial-Dental Syndrome |
|
Scoliosis, Long philtrum, Short neck, Taurodontia, Ventricular septal defect, Midface retrusion, ... |
ORPHA:444072 |
| Caudal Regression Sequence |
|
Scoliosis, Arrhinencephaly, Pulmonary hypoplasia, Anal atresia, Abnormal vertebral segmentation a... |
ORPHA:3027 |
| Tatton-Brown-Rahman Syndrome |
|
Scoliosis, Atrial septal defect, Arnold-Chiari type I malformation, Umbilical hernia, Encephaloma... |
OMIM:615879 |
| Myhre Syndrome |
|
Narrow mouth, Mandibular prognathia, Pericardial effusion, Birth length less than 3rd percentile,... |
OMIM:139210 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Oligodontia, Frontal bossing, Pectus carinatum, Kyphosis, Everted lower lip vermilion,... |
ORPHA:276630 |
| Cardiofaciocutaneous Syndrome 1 |
|
Scoliosis, Open bite, Bulbous nose, Open mouth, Shield chest, High palate, Short neck, Micrognath... |
OMIM:115150 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Progressive sensorineural hearing impairment, Bird-like facies, Fragile teeth, Hypodontia, Catara... |
ORPHA:2959 |
| Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Carious teeth, Kyphoscoliosis |
OMIM:136300 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Fryns Syndrome |
|
Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Intestinal malrotation, Ectopic pan... |
OMIM:229850 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Hydroc... |
OMIM:313850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcornea, Short stature, Intrauterine growth retardation, Micrognathia, Prominent nose |
OMIM:616171 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Scoliosis, Macrotia, Protruding ear, Patellar hypoplasia, Micrognathia |
OMIM:251240 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Midface retrusion, Growth delay, Posteriorly rotated ears, Short stature... |
OMIM:614727 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... |
ORPHA:2180 |
| Basilar Impression, Primary |
|
Platybasia, Short neck, Craniofacial asymmetry, Kyphoscoliosis |
OMIM:109500 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal heart... |
ORPHA:79264 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Anodontia, Cataract, Opacification of the corneal stroma, Short stature, Hypoplasia of the maxilla |
OMIM:211370 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Short nose, Microretrognathia, Low-set, posteriorly rotated ears, Abnormal palate ... |
ORPHA:1786 |
| Parastremmatic Dwarfism |
|
Scoliosis, Genu valgum, Kyphosis, Severe short stature, Short neck |
OMIM:168400 |
| Distal Trisomy 6P |
|
Thin vermilion border, Narrow mouth, Frontal bossing, Micrognathia, Aplasia/Hypoplasia of the ear... |
ORPHA:1745 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis, Severe short stature, Triangular face, Posteriorly rotated ears, Retrog... |
OMIM:617352 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Partial agenesis of the corpus callo... |
OMIM:617478 |
| Fanconi Anemia, Complementation Group S |
|
Prominent nasal bridge, Narrow palate, Anteverted nares, Thick upper lip vermilion, Short stature... |
OMIM:617883 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Short nose, Hypoplasia of the corpus callosum, Sho... |
OMIM:300887 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Wi... |
OMIM:122860 |
| Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Bulbous nose, Postnatal growth retardation, Cataract, Hearing impairment, Short stature, Broad na... |
OMIM:612947 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... |
ORPHA:99050 |
| Cooper-Jabs Syndrome |
|
Scoliosis, Camptodactyly of finger, Frontal bossing, Ventricular septal defect, Conductive hearin... |
ORPHA:1488 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Narrow mouth, Short stature, Ventricular septal defect |
OMIM:270460 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Scoliosis, Carious teeth, Heterochromia iridis, Low-set, posteriorly rotated ears, Abnormal palat... |
ORPHA:1390 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the tongue, Abnormality of the knee, Short neck, Wide anterior fontanel, Abnormal ... |
ORPHA:3098 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Abnormality of the antihelix, Macroglossia, Bulbous nose, Short nose, Excessive saliva... |
ORPHA:261144 |
| Hamamy Syndrome |
|
Long philtrum, Craniosynostosis, Atrial septal defect, Pectus excavatum, Down-sloping shoulders, ... |
OMIM:611174 |
| Clark-Baraitser syndrome |
|
Scoliosis, Genu valgum, Frontal bossing, Anteverted nares, Genu recurvatum, Kyphosis, Maxillary l... |
OMIM:300602 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... |
ORPHA:3097 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Mandibular prognathia, Gingival overgrowth, Kyphoscoliosis, Short stature, Anteverted nares, Wide... |
OMIM:618006 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal vertebral morphology, Frontal bossing, Flat face, Kyphosis, Rhizomelia, Abnormality of t... |
ORPHA:35173 |
| Zttk Syndrome |
|
Scoliosis, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, He... |
OMIM:617140 |
| Hydrolethalus |
|
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Tracheal atresia, Anencephaly, Laryngom... |
ORPHA:2189 |
| 3C Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Postnatal growth retarda... |
ORPHA:7 |
| Apert Syndrome |
|
Anomalous tracheal cartilage, Narrow palate, Large fontanelles, Mandibular prognathia, Choanal at... |
OMIM:101200 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Wormian bones, Dental crowding, High palate, Short neck, Micrognathia, Long philtrum, ... |
OMIM:130720 |
| Melnick-Needles Syndrome |
|
Scoliosis, Delayed eruption of teeth, Short thorax, Anisospondyly, Tooth malposition, Frontal bos... |
ORPHA:2484 |
| Cach Syndrome |
|
T2 hypointense thalamus, Dysphagia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Hepatospl... |
ORPHA:135 |
| Facial Dysmorphism With Multiple Malformations |
|
Bulbous nose, Hydrocephalus, Short nose, Ventricular septal defect, Wide nasal bridge, Hemiverteb... |
OMIM:227255 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Ventricular septal defect, Abnormal facial shape, Dental malocclusion, Long nose |
OMIM:613680 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Pectus carinatum, Kyphosis, Back pain, Disproportionate short-trunk short stature, Fla... |
OMIM:271530 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Genu valgum, Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Dental maloc... |
ORPHA:2785 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Situs inversus totalis, Genu recurvatum, Pectus carinatum, Mandibular prognathia, Kyph... |
OMIM:609008 |
| Ck Syndrome |
|
Dental crowding, Microretrognathia, Posteriorly rotated ears, Lumbar hyperlordosis, Narrow face, ... |
ORPHA:251383 |
