| Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... |
OMIM:601216 |
| Mcdonough Syndrome |
|
Dental malocclusion, Mandibular prognathia, Macrotia, Kyphosis, Short stature, Micrognathia, Shor... |
ORPHA:2471 |
| Spinocerebellar Ataxia 27A |
|
Gait ataxia, Postural tremor, Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, ... |
OMIM:193003 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Abnormality of the philtrum, Mandibular prognathia, Plagiocephaly, Abnormality of ... |
ORPHA:2673 |
| Lujan-Fryns Syndrome |
|
Brachycephaly, Camptodactyly of finger, High palate, Micrognathia, Dental crowding, Short philtru... |
ORPHA:776 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Facial asymmetry, Anterior open-bite malocclusion,... |
ORPHA:477781 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Narrow... |
OMIM:300676 |
| Auriculocondylar Syndrome 2 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:614669 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Camptodactyly of finger, Midface retrusion, Pectus excavatum, Scapular winging, Ab... |
ORPHA:1327 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Positive Romberg sign, Ataxia, Vestibular ar... |
OMIM:614575 |
| Spinocerebellar Ataxia 6 |
|
Truncal ataxia, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Dysmetria, Cerebellar atrophy,... |
OMIM:183086 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Microtia, Delayed eruption of teeth, Tongue atrophy, Hemifacial at... |
OMIM:141300 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature lo... |
OMIM:156510 |
| Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Large earlobe |
OMIM:155050 |
| Maxillonasal Dysplasia |
|
Vertebral clefting, Flat face, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia... |
ORPHA:1248 |
| Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Macrotia, Narrow palate, Kyphosis, Widely spaced teet... |
ORPHA:61 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Macrotia, Short stature, Kyphoscoliosis, Anteverted ears |
OMIM:615541 |
| Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry |
OMIM:133900 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Short stature, Kyphosis, Scoliosis, Abnormality of th... |
ORPHA:1858 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Macrotia, Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Narrow ... |
ORPHA:93950 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Long philtrum, Mitral valve prolapse, Hypoplasia of the maxilla... |
ORPHA:90653 |
| Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... |
OMIM:618300 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Short stature, Microtia, Atrial septal defect, Hypoplasia of the maxilla, Narrow m... |
ORPHA:261295 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Short stature, Widely spaced teeth, Cataract, Attached earlobe, Malar flatte... |
OMIM:616108 |
| Three M Syndrome 2 |
|
Hyperlordosis, Dental malocclusion, Short thorax, High palate, Long philtrum, Short stature, Dela... |
OMIM:612921 |
| Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Micrognathia, Cervical kyphosis, Midface retrusion, Prominent occi... |
OMIM:108721 |
| X-Linked Intellectual Disability, Porteous Type |
|
Macrotia, Mandibular prognathia, Short stature, Short philtrum, Hypoplasia of the maxilla, Narrow... |
ORPHA:93945 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Short stature, Delayed eruptio... |
ORPHA:2863 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Cleft upper lip, Megalocornea, Abnormality of the cerv... |
ORPHA:915 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Macrotia, Short stature, Micrognathia, Abnormal facial shape, Diastema, Shor... |
ORPHA:436245 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra... |
OMIM:231060 |
| Auriculocondylar Syndrome 1 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:602483 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Short stature, Microtia, Underdevel... |
ORPHA:79113 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Abnormal vertebral... |
ORPHA:280195 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Abnormality ... |
ORPHA:1926 |
| Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
| Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Lobulated tongue, Ventricular septal defect, Molar tooth sign on MR... |
OMIM:614815 |
| Dysostosis, Stanescu Type |
|
Brachycephaly, Hyperlordosis, Flat face, Kyphosis, Short stature, Midface retrusion, Macroglossia... |
ORPHA:1798 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Elbow flexion contracture, Short stature, Knee flexion contracture |
OMIM:259610 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Midface retrusion, Hypoplasia of the maxilla, Thin upper lip vermilion, S... |
OMIM:618737 |
| Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Short stature, Delayed eruption of teeth, Narrow chest, Posterior wed... |
ORPHA:50814 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion, Short stature, Abnormality of the dentition |
ORPHA:2776 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Midface retrusion, Long thorax, Short ... |
OMIM:619142 |
| Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Delayed eruption of primary teeth, Glossoptosis, Microtia, Microgn... |
OMIM:616367 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Enlarged thorax, Abnormal pleura morphology, Cerebral corti... |
ORPHA:2570 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Ventricular ... |
ORPHA:1908 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Gait ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Dysmetria, Vestibular areflexi... |
ORPHA:504476 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Sensorineural hearing impairment, Short stature, Disharmonious carpal bone, Long tho... |
OMIM:608154 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Flat face, Rieger anomaly, Sensorineural hearing impairment, Short stature, Abnorm... |
OMIM:109120 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Pericardial constriction, Hypoplastic frontal sinuses, Sh... |
OMIM:253250 |
| Crouzon Syndrome |
|
Brachycephaly, Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Tur... |
ORPHA:207 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre... |
OMIM:614779 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Narrow face, Long face, Short philtrum |
OMIM:300210 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Flat face, Sensorineural hearing impairment, Ulnar deviation of the wris... |
ORPHA:1529 |
| Pycnodysostosis |
|
Delayed cranial suture closure, Micrognathia, Midface retrusion, Frontal bossing, Disproportionat... |
ORPHA:763 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... |
OMIM:246560 |
| Harrod Syndrome |
|
Dental malocclusion, High palate, Kyphosis, Abnormal shoulder morphology, Narrow face, Long face,... |
ORPHA:2115 |
| Deafness, Autosomal Recessive 103 |
|
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:616042 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Hypoplasti... |
OMIM:136760 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Duodenal stenosis, Intestinal malrotation, Dextrocardia, Abnormal tricuspid valve mo... |
ORPHA:1759 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Molar tooth sign on MRI, Anencephaly, Hydr... |
OMIM:611134 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Macrotia, Mandibular prognathia, High palate, Abnormal cardiac septum morpho... |
ORPHA:3079 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Short thorax, Multiple pterygia |
OMIM:601809 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Protruding ear |
OMIM:618302 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Conductive hearing impairment, Turricephaly, Abnormal sacrum morphology, Hypoplasi... |
ORPHA:93262 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Dental malocclusion, Macrodontia of permanent maxillary central incisor, Short sta... |
OMIM:257850 |
| Potocki-Lupski Syndrome |
|
Dental malocclusion, Patent foramen ovale, Mandibular prognathia, High palate, Short stature, Wid... |
OMIM:610883 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormal cardiac septum morphology, Opt... |
ORPHA:1590 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Larsen-Like Syndrome |
|
Brachycephaly, Dental malocclusion, Flat face, Conductive hearing impairment, Joint dislocation, ... |
OMIM:608545 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Conductive hearing impairment, High palate, Pierre-Robin sequence, Prominent st... |
OMIM:617877 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Vertigo, Intention tr... |
ORPHA:101110 |
| Carpenter Syndrome 1 |
|
Brachycephaly, Conductive hearing impairment, Lateral displacement of patellae, Micrognathia, Mid... |
OMIM:201000 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Isomerism, Esophageal atresia, Hydrocephalus, Anal atresia, Pulmon... |
OMIM:314390 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion, Abnormal form of the ve... |
ORPHA:192 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Microdontia, Round face, Severe sensorineural hearing impairment, Proximal radio-ul... |
ORPHA:363417 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Mandibular prognathia, High palate, Long face, Mild short stature |
OMIM:618292 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnormal form of the vertebral bo... |
ORPHA:1106 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Flat face, Congenital hip dislocation, Thin upper lip v... |
OMIM:619719 |
| Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Talon cusp, Dental malocclusion, Narrow palate, High palate, Short stature, Microgn... |
OMIM:613684 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Short stature, Hypoplasia of the maxilla, Protruding ear |
ORPHA:85279 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:619702 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, Posterior Y-sutural catar... |
OMIM:302350 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Pulp calcification, Taurodontia, Lens coloboma, Iris coloboma, Gingiva... |
ORPHA:2791 |
| Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Tooth malposition, Narrow palate, Ventricular septal defect, Short stature, Abnorm... |
OMIM:277600 |
| Craniosynostosis 3 |
|
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Right unicoronal syno... |
OMIM:615314 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Micrognathia, Triangular face, Hypoplasia of the maxilla, Ankle swelling, Corneal... |
OMIM:166300 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Scl... |
OMIM:144750 |
| Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
| Crouzon Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Conjunctivitis, Mandibular prognathia, Abnormality of t... |
OMIM:123500 |
| Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, 11 pairs of ribs, High palate, Kyphosis, Micrognathia, Short neck, Low-set ears, Po... |
OMIM:618393 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Bell-shaped thorax, Ventricular septal defect, Long philtrum, Microtia, Micrognathi... |
OMIM:608149 |
| Auriculocondylar Syndrome |
|
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle... |
ORPHA:137888 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Midface retrusion, Hyperplasia o... |
OMIM:614753 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Macrotia, Cleft upper lip, Hypoplasia of the premaxilla... |
OMIM:610829 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Dental malocclusion, Scaphocephaly, Hypoplastic helices, Plagiocephaly, Bic... |
OMIM:619149 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Facial asymme... |
ORPHA:96183 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Abnormal cardiac septum morphology, Abnormal heart... |
ORPHA:294975 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Absent gallbladder, Abnormal sternum morphology, Encephalocele, ... |
ORPHA:1335 |
| Pde4D Haploinsufficiency Syndrome |
|
Brachycephaly, Flat face, Irregular vertebral endplates, Mandibular prognathia, Broad face, Long ... |
ORPHA:439822 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Cerebellar cortical atrophy, Dysdiadochokinesis, Resting tremor, Ataxia, Abnormal ve... |
ORPHA:247234 |
| Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Ventricular septal defect, Kyphosis, Abnormal mitral valve morpho... |
ORPHA:1724 |
| Noonan Syndrome 4 |
|
Dental malocclusion, Abnormal sternum morphology, Ventricular septal defect, Pectus excavatum of ... |
OMIM:610733 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Proportionate short st... |
ORPHA:79345 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
| Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla |
ORPHA:2975 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypoplastic left heart, Cleft... |
ORPHA:2476 |
| Martsolf Syndrome 1 |
|
Brachycephaly, Cardiomyopathy, Talipes valgus, High palate, Long philtrum, Short stature, Tooth m... |
OMIM:212720 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:617577 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatin... |
ORPHA:2790 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Narrow chest, Micrognathia, Short philtrum, Frontal bossin... |
ORPHA:93267 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Severe platyspondyly, Rhizomelia, Cupped ribs, Ovoid vertebral bodies, Scoli... |
OMIM:608940 |
| Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, Micrognathia, T... |
OMIM:613804 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, ... |
OMIM:210600 |
| Trichorhinophalangeal Syndrome, Type I |
|
Hyperlordosis, Dental malocclusion, Macrotia, Narrow palate, Long philtrum, Short stature, Delaye... |
OMIM:190350 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Short stature, Subm... |
ORPHA:3426 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Abnormal facia... |
OMIM:608227 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Atrioventricular canal defect, Megalocornea, Developmental glaucoma, De... |
ORPHA:2409 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... |
OMIM:273050 |
| Cohen Syndrome |
|
Micrognathia, Pectus excavatum, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, ... |
ORPHA:193 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
| Dextrocardia |
|
Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Hydrocephalus, Abnormal lung... |
ORPHA:1666 |
| Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Midface retrusion... |
ORPHA:782 |
| Craniolenticulosutural Dysplasia |
|
Punctate cataract, Delayed closure of the anterior fontanelle, High palate, Long philtrum, Short ... |
OMIM:607812 |
| Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Situs inversus totalis, Dextrocardia, R... |
OMIM:615067 |
| Cohen Syndrome |
|
Genu valgum, Macrodontia of permanent maxillary central incisor, Short stature, Micrognathia, Mit... |
OMIM:216550 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Hyperopic astigmatism |
ORPHA:397973 |
| Holoprosencephaly 7 |
|
Midface retrusion, Median cleft lip, Iris coloboma, Cleft palate, Cranial asymmetry, Flat face, H... |
OMIM:610828 |
| Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Iris coloboma, Cleft palat... |
ORPHA:2369 |
| Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Holoprosencephaly, Short neck, Hepatom... |
OMIM:269860 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Brachycephaly, Delayed cranial suture closure, Conductive hearing ... |
ORPHA:794 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Atri... |
ORPHA:89844 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Ayme-Gripp Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Midface retrusion, Pectus excavatum, Pericarditis,... |
OMIM:601088 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Lissencephaly, Myocardial fibrosis, Holoprosencephaly, Type II lissencephaly, Poly... |
OMIM:253800 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Conductive hearing impairment, Micrognathia, Pectus excavatum, Dislocated radial head, Lateral cl... |
OMIM:182212 |
| Frontorhiny |
|
Camptodactyly of finger, Cranium bifidum occultum, Encephalocele, Hypoplastic frontal sinuses, Bi... |
ORPHA:391474 |
| Marshall Syndrome |
|
Brachycephaly, Thick upper lip vermilion, Hypoplastic frontal sinuses, Micrognathia, Ectopia lent... |
ORPHA:560 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia... |
ORPHA:244 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Submucous cleft hard palat... |
ORPHA:178303 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
| Marden-Walker Syndrome |
|
Abnormal sternum morphology, High palate, Long philtrum, Kyphosis, Joint contracture of the hand,... |
OMIM:248700 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... |
OMIM:612350 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Microdontia, Hypodontia, Anterior chamber synechiae, Short philtrum, Micro... |
OMIM:601499 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Round face, Tooth agene... |
OMIM:618363 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Macrotia, High palate, Long philtrum, Abnormal facial shape, Hip dislocation, Increased laxity of... |
ORPHA:481152 |
| Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Elbow flexion contracture, Ectopia lentis, Iridodonesis, Proportionate short statu... |
OMIM:608328 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Abnormality of the pancreas, Abnormal cardiac septum morphology, Abnormality o... |
ORPHA:887 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Delayed eruption of teeth, Selective tooth ag... |
OMIM:305620 |
| Acrootoocular Syndrome |
|
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Short statu... |
ORPHA:2980 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Retrognathia, Ventricular hypertrophy, Limited elbow movement, Kyphosis, Brachyturricephaly, Join... |
OMIM:300280 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Macrotia, High palate, Facial asymmetry, Hypoplasia of the maxilla, Long face, Sco... |
OMIM:218000 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Microcephaly, Cleft palate |
OMIM:601355 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Asplenia, Chiari malformation, Butterfly vertebrae, Posterior rib ... |
OMIM:265380 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Optic nerve hypoplasia, Type II lissencephaly, Olivopontocerebellar hypoplasia, Lu... |
ORPHA:370959 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Pectus e... |
ORPHA:2462 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Short stature, Micr... |
ORPHA:1307 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Abnormal cardiac septum morphology, Hypoplasia of the premaxilla, Micrognathia, Na... |
ORPHA:2166 |
| Meckel Syndrome, Type 10 |
|
Sacral dimple, Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anenceph... |
OMIM:614175 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Atrial septal defect, Scoliosis, Microcephaly, Tetralogy ... |
ORPHA:1913 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Turricephaly, Dolichocephaly, Hip dislocation, Thoracic kyphoscoliosis, Large fleshy ears, Severe... |
OMIM:203550 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Short stature, Prominent frontal sinuses, Micrognathia, Oligodont... |
OMIM:170390 |
| Cowden Syndrome 5 |
|
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... |
OMIM:615108 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Pursed l... |
OMIM:241310 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Hypoplasia ... |
OMIM:614261 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
| Van Maldergem Syndrome 1 |
|
Sacral dimple, Dental malocclusion, Irregular dentition, Conductive hearing impairment, Sensorine... |
OMIM:601390 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, ... |
OMIM:613805 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Kyphosis, Deep philtrum, Micrognathia, Pectus excavatum, Cervical ribs, Incomplete... |
ORPHA:77300 |
| Diprosopus |
|
Cleft palate, Anencephaly, Abnormal cardiac septum morphology |
ORPHA:1681 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic... |
ORPHA:1727 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Aplasia of posterior communicating artery, Ectopic anus, Pectus excavatum, Vertebral artery hypop... |
OMIM:613686 |
| Pyle Disease |
|
Thickened calvaria, Mandibular prognathia, Limited elbow extension, Genu valgum, Hypoplastic fron... |
OMIM:265900 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Short philtrum, Scoliosis, Prominent metopic ridge, Protruding e... |
ORPHA:85317 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Macrotia, Short stature, High, narrow palate, Dolichocephaly, Kyphoscoliosis, Cataract, Flat occi... |
ORPHA:3433 |
| Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Absent cupid's bow, Ri... |
OMIM:617616 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, ... |
OMIM:616331 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Biparietal narrowing, Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna... |
ORPHA:228396 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Abnormal cardiac septum morphology, Prominence of the premaxilla, Congen... |
ORPHA:2412 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Short stature, Micrognathia, Supern... |
ORPHA:3145 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the elbow, Short stature, Radioulnar synostosis, Scol... |
ORPHA:3268 |
| Kyphomelic Dysplasia |
|
Flat face, Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, ... |
ORPHA:1801 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, High palate, Long face |
OMIM:608931 |
| Keipert Syndrome |
|
Sensorineural hearing impairment, Short stature, Hypoplasia of the maxilla, Tented upper lip verm... |
ORPHA:2662 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... |
ORPHA:1528 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachycephaly, Dental malocclusion, Mandibular prognathia, Short stature, Delayed eruption of tee... |
OMIM:101800 |
| Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Pectus excavatum, Tetralog... |
ORPHA:261243 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Short stature, Hypodontia, Hypoplasia of the odontoid process, Round face, Large... |
OMIM:305400 |
| Andersen-Tawil Syndrome |
|
Scaphocephaly, High palate, Short stature, Micrognathia, Abnormal facial shape, Oligodontia, Dent... |
ORPHA:37553 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Ventricular septal defect, Widely spaced teet... |
OMIM:618067 |
| Ciliary Dyskinesia, Primary, 25 |
|
Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Recurrent pneum... |
OMIM:615482 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Anal atresia, Atrial sep... |
OMIM:220210 |
| Acrodysostosis |
|
Brachycephaly, Mandibular prognathia, Short stature, Delayed eruption of teeth, Spinal canal sten... |
ORPHA:950 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Pulmonary hypoplasia, Hydranencephaly, Short ... |
OMIM:236500 |
| Frank-Ter Haar Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Micrognathia, Secundum atrial septal defect, Pectu... |
OMIM:249420 |
| Ck Syndrome |
|
Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Dental crowding, Narrow face, L... |
OMIM:300831 |
| Van Den Ende-Gupta Syndrome |
|
Micrognathia, Elbow flexion contracture, Pectus excavatum, Dislocated radial head, Everted lower ... |
OMIM:600920 |
| Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Pectus excavatum, Long face, Sco... |
OMIM:617258 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... |
OMIM:182940 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cataract, Co... |
ORPHA:2399 |
| Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, Sensorineural hearing impairment, Plagiocephaly, Capitate-ham... |
OMIM:602849 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Cerebellar hypoplasia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia... |
ORPHA:3240 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, Abnormal facial sh... |
ORPHA:261197 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Turricephaly, Midface retrusion, Frontal bossing, Hypoplasia of the maxill... |
ORPHA:1540 |
| Cowden Syndrome 6 |
|
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... |
OMIM:615109 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Ectopia cordis, Abnormal rib cage morphology, Scoliosis, Cleft pa... |
OMIM:217100 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
| Mohr Syndrome |
|
Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Short stature, Tongue... |
OMIM:252100 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Conductive hearing impairment, Short stature, Coronal craniosynostosis, Oligodonti... |
ORPHA:2095 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermil... |
OMIM:234100 |
| Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Microtia, Micrognathia, Hypoplasia of the maxilla, Abnormal pa... |
ORPHA:245 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Kyphosis, Pectus excavatum, Disproportionate short-limb short stature,... |
OMIM:259440 |
| Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, Macrotia, Long philtrum, Wide mouth, Micrognathia, Abnormal facial shape, Hip dislo... |
ORPHA:96092 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Abnormally folded helix, Den... |
OMIM:309520 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Short stature, Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Tri... |
OMIM:616583 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eru... |
OMIM:259600 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:611884 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal antihelix morphology, Hyperlordosis, Brachycephaly, High palate, Furrowed tongue, Short ... |
ORPHA:1387 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Sensorineural hearing impairment, Short stature, Wide mouth, Thick lower lip... |
ORPHA:85321 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Molar tooth sign on MRI, Short ribs, Anencephaly, Hydrocephalus, Polymicrogyri... |
OMIM:616546 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Brachycephaly, Long philtrum, Kyphosis, Micrognathia, Dental crowdi... |
OMIM:615761 |
| Momo Syndrome |
|
Brachycephaly, Dental malocclusion, Short sternum, High palate, Long philtrum, Delayed eruption o... |
OMIM:157980 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:614679 |
| Grant Syndrome |
|
Brachycephaly, Flat face, Joint dislocation, Short stature, Narrow chest, Micrognathia, Facial as... |
ORPHA:2097 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Short neck, Abnormal rib morphology, Hearing impairment, Abnormal dental enamel m... |
ORPHA:582 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Hypoplasia of the maxilla, Low-set ears, Cupped ear, Conjunctival hyperemia |
OMIM:167730 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Atrioventricular canal defect, Double outlet right ventricle, Transposition of the great arteries... |
OMIM:605376 |
| Cleidocranial Dysplasia 2 |
|
Genu valgum, Plagiocephaly, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossific... |
OMIM:620099 |
| Zimmermann-Laband Syndrome |
|
Sensorineural hearing impairment, High palate, Wide mouth, Micrognathia, Thickened ears, Bifid uv... |
ORPHA:3473 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Conductive hearing impairment, Micrognathia, Midface retrusion, Iris coloboma, Too... |
ORPHA:861 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Wide mouth, Microtia, Narrow chest, Micrognathia, Frontal b... |
ORPHA:1703 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Plagiocephaly, Long philtrum, Megalocornea, Dolic... |
ORPHA:1101 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Flat face, Plagiocephaly, Wide mouth, Widely spaced teeth... |
OMIM:619293 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Malar prominence,... |
ORPHA:2522 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Hypoplastic helices, Myelomeningocele, High palate, Prominent antitragus... |
ORPHA:2437 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Disproportionate short-trunk... |
OMIM:253000 |
| Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Micrognathia, Midface retrus... |
OMIM:615546 |
| Distal Trisomy 5Q |
|
Flat face, Macrotia, Ventricular septal defect, Short stature, Long philtrum, Micrognathia, Dextr... |
ORPHA:96097 |
| Myhre Syndrome |
|
Mandibular prognathia, Abnormal cardiac septum morphology, Gingival cleft, Abnormal lip morpholog... |
ORPHA:2588 |
| Microhydranencephaly |
|
Hypoplasia of the brainstem, Short stature, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... |
OMIM:605013 |
| Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Flat face, Mandibular prognathia, Conductive... |
ORPHA:87 |
| Angelman Syndrome |
|
Brachycephaly, Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia o... |
OMIM:105830 |
| Cri-Du-Chat Syndrome |
|
High palate, Thick lower lip vermilion, Bifid uvula, Short philtrum, Round face, Microretrognathi... |
OMIM:123450 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum |
OMIM:614120 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Kyphosis, Delayed eruption of teeth, Coarse facia... |
ORPHA:137834 |
| Kabuki Syndrome 2 |
|
Dental malocclusion, Atrioventricular canal defect, Macrotia, High palate, Lower lip pit, Natal t... |
OMIM:300867 |
| Cleft Velum |
|
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Short face, Hypop... |
ORPHA:99772 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Enlarged tho... |
ORPHA:251071 |
| Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Ventricular septal defect, Short stature, Interrupted aortic arch, Velopha... |
OMIM:192430 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Macrodontia of permanent maxillary central incisor, Ventricular... |
OMIM:616202 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Wide mouth, Coarse facial features, Short philtrum, Everted lowe... |
ORPHA:2429 |
| Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Micrognathia, Midface retrusion, Pectus excavatum, Gingival overgrowth, Hearing im... |
OMIM:179613 |
| Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Mandibular prognathia, Periodontitis, ... |
OMIM:231070 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ve... |
ORPHA:3384 |
| Achard Syndrome |
|
Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Meier-Gorlin Syndrome 1 |
|
Micrognathia, Osteochondritis dissecans, Microdontia, Elbow dislocation, Absent sternal ossificat... |
OMIM:224690 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten... |
OMIM:600001 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Macrotia, Anotia, Microtia, Short stature, Micrognathia, Midface retrusion, Acetabu... |
OMIM:616462 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Encephalocele, High palate, Short stature, Anencephaly, Pyloric stenosi... |
OMIM:619148 |
| Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, High palate, Short stature, Microtia, Short lingual frenulum, Thick lower l... |
ORPHA:293939 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Brachycephaly, Micrognathia, Recurrent sinusitis, Pectus excavatum, Short neck, Beaking of verteb... |
OMIM:213980 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Chiari malformation, Abnormal cardiac septum morphology, Malformation of the hepatic du... |
OMIM:249000 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno... |
ORPHA:2255 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micrognathia, Biparietal narrowing, Hip dislocation, Prominent occiput, ... |
ORPHA:99776 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Conductive hearing impairment, Anterior clefting of vertebral bodies, Micrognathia... |
OMIM:265000 |
| Slc35A2-Cdg |
|
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Lateral ... |
ORPHA:356961 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed closure of the anterior fontanelle, Macrotia, Kyphosis, Delayed eruption of teeth, Widely... |
OMIM:619797 |
| Momo Syndrome |
|
Brachycephaly, Dental malocclusion, Short sternum, Thick upper lip vermilion, High palate, Long p... |
ORPHA:2563 |
| Short Syndrome |
|
Dental malocclusion, Macrotia, Sensorineural hearing impairment, Megalocornea, Birth length less ... |
OMIM:269880 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Butterfly vertebrae, Hyperplas... |
ORPHA:313892 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
| Heart And Brain Malformation Syndrome |
|
Gastroesophageal reflux, Global brain atrophy, Ventricular septal defect, Interrupted aortic arch... |
OMIM:616920 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Gingi... |
ORPHA:97360 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Abnormal cranial nerve morphology, Spina bifida, Anal at... |
ORPHA:2345 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Short stature, Micrognathia... |
ORPHA:48431 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Long philtrum, Kyphosis, Micrognathia, Delayed puberty, Scoliosis |
ORPHA:2598 |
| Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Prominence of the premaxilla, Round face, Everted lower lip vermili... |
OMIM:137550 |
| Usher Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Abnormal vestibular funct... |
ORPHA:886 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Brachycephaly, High palate, Short stature, Microcornea, Cataract, Narrow mouth, Gro... |
ORPHA:2528 |
| Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Delayed cranial suture closure, Sensorineural hearing impairment, Delayed eruption ... |
OMIM:601812 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Dental crowding, Hyperplasia of the maxilla, Open bite |
OMIM:613671 |
| Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Sclerosteosis 1 |
|
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Broad... |
OMIM:269500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly, Thick upper lip vermilion, Mandibular prognathia, Wide mouth, Thick lower lip verm... |
OMIM:309545 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Radioulnar dislocation, High palate, Abnormality of the elbow, Short stature, Micrognathia, Abnor... |
ORPHA:93359 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Hepatomegaly, Abnormal cortical gyration, Esophageal atresia, Agenesis of cor... |
ORPHA:2538 |
| Meier-Gorlin Syndrome 3 |
|
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Birth length less than 3rd perce... |
OMIM:613803 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Short stature, Abnormal vertebral morphology, Pectus excavatum, Cerebral... |
ORPHA:166024 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Lobulated tongue, High palate, Molar tooth sign on MRI, Short stature, Tongue n... |
OMIM:277170 |
| Oliver Syndrome |
|
Small earlobe, Dental malocclusion, Camptodactyly of finger, Mandibular prognathia, Knee flexion ... |
ORPHA:2920 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Mandibular prognathia, Furrowed tongue, Short stature, High palate, Micrognathia, Diast... |
OMIM:300534 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Micrognathia, Severe short stature, Abnormal palate morp... |
ORPHA:2617 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Friedreich Ataxia |
|
Gait ataxia, Chorea, Impaired visually enhanced vestibulo-ocular reflex, Limb ataxia, Intention t... |
ORPHA:95 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Microretrognathia, Abnormal clavicle morphology, Abnormal rib morpho... |
ORPHA:276422 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho... |
ORPHA:40 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Conjunctivitis, Cleft upper lip, Conductive hearing impairment, Ventricular septal... |
OMIM:106260 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Situs inversus totalis, Dextrocard... |
OMIM:616037 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, Cleft palate, Postnat... |
ORPHA:251028 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair... |
OMIM:300373 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly, Macrotia, Wide mouth, Micrognathia, Triangular face, Thin upper lip vermilion, Sco... |
OMIM:615419 |
| Intermediate Osteopetrosis |
|
Dental malocclusion, Back pain, Abnormality of dental morphology, Osteosclerosis of the base of t... |
ORPHA:210110 |
| Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Cleidocranial Dysplasia |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... |
ORPHA:1452 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachycephaly, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Round face, Prominent ... |
OMIM:612474 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Midface retrusion, Everted lower lip... |
ORPHA:2616 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Midface retrusion, Intrauteri... |
ORPHA:628 |
| Spinocerebellar Ataxia Type 12 |
|
Tremor by anatomical site, Abnormal cerebellum morphology, Postural tremor, Ataxia, Action tremor... |
ORPHA:98762 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... |
OMIM:617967 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Gastroesophageal r... |
OMIM:618316 |
| Cowden Syndrome 1 |
|
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... |
OMIM:158350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Protruding ear, Scoliosis, Kyphosis |
OMIM:300861 |
| Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
ORPHA:2789 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Rectovaginal fistula, Communicating hydrocephalus, Anal atresia, Trach... |
ORPHA:1780 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Bifid uvula, Pectus excavatum, Short neck, Flat face, Abnormality of the vertebral... |
ORPHA:1299 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Growth delay, Carious teeth, ... |
OMIM:147770 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Kyphosis, Short stature, Wide mouth, Micrognathia, Deep philtrum, Short philtrum, ... |
OMIM:615834 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Short stature, Short lingual frenulum, Dilated... |
ORPHA:2326 |
| Laterality Defects, Autosomal Dominant |
|
Heterotaxy, Situs inversus totalis |
OMIM:601086 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Kyphosis, Short stature, Delayed ossification of carpal bones, Cataract, Pectus carinat... |
OMIM:618392 |
| Stickler Syndrome |
|
Micrognathia, Midface retrusion, Hip dislocation, Ectopia lentis, Tooth agenesis, Cleft palate, H... |
ORPHA:828 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Pectus excavatum, Cleft palate, Posteriorly r... |
ORPHA:2461 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Abnormal ... |
ORPHA:300570 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Cleft palate, Re... |
ORPHA:2257 |
| Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly, Intrauterine growth retardation |
ORPHA:293 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, E... |
ORPHA:2554 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Kyphosis, Joint contracture of the hand, Short stature, Micrognathia, Abnormal faci... |
ORPHA:352490 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Bilateral lung agenesis,... |
OMIM:601186 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Thick lower lip vermilion, Intrauteri... |
OMIM:234250 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Brachycephaly, Dental malocclusion, Vertebral fusion, Narrow palate, High palate, Wide mouth, Mic... |
OMIM:227330 |
| Coffin-Siris Syndrome 6 |
|
Retrognathia, Conductive hearing impairment, Plagiocephaly, Short stature, Deep philtrum, Coarse ... |
OMIM:617808 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Par... |
OMIM:617478 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Kyphosis, Mitral valve prolapse, Lens subluxation, Situs inversus totalis,... |
OMIM:609008 |
| Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Infancy onset short-trunk short stature, Macrodontia of permanent maxillary ... |
ORPHA:444072 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
| Renpenning Syndrome |
|
Macrotia, Sensorineural hearing impairment, Mandibular prognathia, Round ear, Macrodontia, Short ... |
ORPHA:3242 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border |
OMIM:601957 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar d... |
ORPHA:2916 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Mandibular prognathia, Conductive hearing impairment, Kyphosis, Ap... |
ORPHA:3082 |
| Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Severe short stature, Delayed eruption of permanent teeth, Scoliosis... |
OMIM:112350 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Bell-shaped thorax, Myelomeningocele, Ventricular septal defect, Kyphosis, Short sta... |
ORPHA:1393 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Midface retrusi... |
OMIM:215140 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Recurrent pneumonia, Situs inversus totalis, Heterotaxy, Recu... |
OMIM:613807 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Protrusio acetabuli, Kyphosis, Micrognathi... |
OMIM:259420 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Flat face, Macrotia, Long philtrum, Aplas... |
ORPHA:1968 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Hearing impairment, Scoliosis, Kyphosis |
OMIM:617087 |
| Elsahy-Waters Syndrome |
|
Brachycephaly, Delayed eruption of teeth, Bifid uvula, Midface retrusion, Pectus excavatum, Poste... |
OMIM:211380 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Bifid tongue, Micrognathia, Midface retrusion, Short neck, Cleft palate, Gingival overgrowth, Hea... |
OMIM:616894 |
| Alexander Disease Type I |
|
Hydrocephalus, Rosenthal fibers, Abnormal cerebral white matter morphology, Focal T2 hyperintense... |
ORPHA:363717 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Absent or minimally ossified vertebral bodies, Hepatic fibrosis, Thoracic hypopl... |
ORPHA:1505 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, High palate, Limited elbow movement, Abnormal facial shape, Triangular face, Flat o... |
ORPHA:319171 |
| Distal Monosomy 19P13.3 |
|
Umbilical hernia, Pulmonary valve atresia, Conductive hearing impairment, Sensorineural hearing i... |
ORPHA:96129 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria... |
ORPHA:99050 |
| Hajdu-Cheney Syndrome |
|
Conductive hearing impairment, Micrognathia, Dislocated radial head, Iris coloboma, Short neck, T... |
OMIM:102500 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Delayed closure of the anterior fontanelle, Limited elbow movement, Short st... |
OMIM:614008 |
| X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, Abnormal mitr... |
ORPHA:1131 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Macrotia, Mandibular prognathia, Facial asymmetry, Triangular face, Overriding aorta,... |
ORPHA:1110 |
| Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Micrognathia, Elbow dislocation, Pectus excavatum, Everted lower lip v... |
ORPHA:800 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Abnormality of thalamus morphology, Ventricular septal d... |
ORPHA:435638 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Conductive hearing impairment, Anotia, Joint contracture of the hand, Microg... |
OMIM:608257 |
| Basilar Impression, Primary |
|
Craniofacial asymmetry, Abnormal cervical myelogram, Platybasia, Kyphoscoliosis, Short neck |
OMIM:109500 |
| Poland Syndrome |
|
Short ribs, Dextrocardia, Rib fusion, Sprengel anomaly, Hemivertebrae |
OMIM:173800 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot, Encephalocele |
ORPHA:217 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Turricephaly, Kyphosis, Short stature, Coronal craniosyno... |
OMIM:616294 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Dental malocclusion, Microretrognathia, Down-sloping shoulders, Scapular winging,... |
OMIM:615560 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Pectus excavatum, Scoliosis, Cerebral cavern... |
OMIM:619910 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, High palate, Kyphosis, Micrognathia, Short neck, Scoliosis, Low-set ears |
OMIM:611890 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Short stature, Midface retrusion, Kyphoscoliosis, Growth delay, Amelogenesis imperfecta, Malar fl... |
OMIM:614727 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Encephalocele, Ventricular septal defect, Hydrocephalus, Anal atresia, Median cl... |
OMIM:264480 |
| Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, Optic atrophy, T2 hypointense thalamus, ... |
ORPHA:135 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Short stature, Oral synechia, Atrial septal defect, Cleft palate, Glos... |
ORPHA:1388 |
| Trisomy 9P |
|
Sacral dimple, Brachycephaly, Non-midline cleft lip, Macrotia, Abnormal pupil morphology, Kyphosi... |
ORPHA:236 |
| Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Abnormal sternum morphology, Sensorineural hearing impairment, Long philtrum... |
OMIM:616737 |
| Whistling Face Syndrome, Recessive Form |
|
Knee flexion contracture, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Mi... |
OMIM:277720 |
| Fryns Syndrome |
|
Thoracic hypoplasia, Pulmonary hypoplasia, Short neck, Hypoplasia of the optic tract, Cleft palat... |
OMIM:229850 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Sprengel anomaly, Scoliosis, Abnormal rib morphology, Low-set... |
ORPHA:2180 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Short stature, Coarse facial features, Craniofacial hyperostosis, ... |
ORPHA:1513 |
| Myhre Syndrome |
|
Pericardial effusion, Midface retrusion, Short neck, Cleft palate, Hearing impairment, Vertebral ... |
OMIM:139210 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Dental malocclusion, Short stature, Selective tooth agenesis, Micrognathia, Hypodontia, Bifid uvu... |
ORPHA:2959 |
| Pelvis-Shoulder Dysplasia |
|
Bell-shaped thorax, Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocepha... |
ORPHA:2839 |
| Turnpenny-Fry Syndrome |
|
Brachycephaly, Conductive hearing impairment, Plagiocephaly, Microdontia, Pectus excavatum, Hypop... |
OMIM:618371 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, High palate, Brachyturricephaly, Humeroradial synostosis, Coronal craniosy... |
OMIM:101600 |
| Three M Syndrome 1 |
|
Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Scapular winging, Postnatal ... |
OMIM:273750 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Skull asymmetry, High palate, Limited elbow movement, Caudal appendage, Prominen... |
OMIM:265050 |
| Autosomal Recessive Stickler Syndrome |
|
Flat face, Irregular vertebral endplates, Sensorineural hearing impairment, Genu valgum, Short st... |
ORPHA:250984 |
| Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Hearing impairment, Post... |
OMIM:115150 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Dental malocclusion, Thick upper lip vermilion, Perimembranous ventricular septal d... |
ORPHA:363444 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Kyphosis, Vascular ring, Thick corpus callosum, Hydrocephalus, Atrial ... |
OMIM:603387 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Small earlobe, High palate, Long philtrum, Joint contracture of the hand, Frontal b... |
OMIM:608156 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Dextrocardia, Re... |
OMIM:615444 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... |
OMIM:616898 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Narrow maxilla, Joint dislocation, Short stature, Mitral valve prolapse, Lop ear, Recurrent sinus... |
OMIM:130000 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Macrotia, Mandibular prognathia, Short stature, Wide mouth, Malar prominence, Large earlobe, Narr... |
ORPHA:2715 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Short stature, Interru... |
ORPHA:250989 |
| Wolf-Hirschhorn Syndrome |
|
Conductive hearing impairment, Micrognathia, Hip dislocation, Iris coloboma, Abnormal sternal oss... |
OMIM:194190 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Enamel hypoplasia, Dental malocclusion, Microdontia, Hemifacial hypoplasia, Oligod... |
OMIM:618727 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Oligodontia, Anodontia, Pectus excavatum, Frontal bossing, Everted lower... |
ORPHA:276630 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Skull asymmetry, Plagiocephaly, Buphthalmos, Cleft... |
OMIM:101400 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Flat face, Sensorineural hearing impairment, Rhizomelia, Micrognathia, Developmental cataract, Fr... |
OMIM:215100 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, High palate, Deep philtrum, Abnormal facial shape, Micrognathia, Thin upper ... |
ORPHA:329178 |
| Alg3-Cdg |
|
Subcortical cerebral atrophy, High palate, Abnormal uvula morphology, Abnormal cerebral morpholog... |
ORPHA:79321 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:606763 |
| 7Q11.23 Microduplication Syndrome |
|
Brachycephaly, Short lingual frenulum, Micrognathia, Round face, Pectus excavatum, Short neck, He... |
ORPHA:96121 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Thoracic hypoplasia, Lateral ventricle dilatation, Recurren... |
ORPHA:397715 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Porencephalic cyst, Atrial septal defect, Microcep... |
ORPHA:254351 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Kyphosis, Short stature, Micrognathia, Synostosis of carpal bones, M... |
ORPHA:3191 |
| Hamamy Syndrome |
|
Brachycephaly, Enamel hypoplasia, Dental malocclusion, Neck pterygia, Sensorineural hearing impai... |
OMIM:611174 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Retrognathia, Hyperlordosis, Dolichocephaly, Triangular face, Severe short stature, Scoliosis, In... |
OMIM:617352 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thal... |
OMIM:617542 |
| Congenital Tracheomalacia |
|
Patent ductus arteriosus, Gastroesophageal reflux, Pneumothorax, Ventricular septal defect, Bronc... |
ORPHA:95430 |
| Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Pectus excavatum, Short neck, Cleft palate, Glossoptosis, Postnatal gr... |
OMIM:616145 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... |
ORPHA:3097 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Micrognathia, Butterfly vertebrae, Hip d... |
ORPHA:958 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Conductive hearing impairment, Short stature, Microtia, Micrognathia, Caudal... |
ORPHA:314679 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Retrognathia, Dental malocclusion, Phakodonesis, High palate, Bifid uvula, Anterior synechiae of ... |
OMIM:601552 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation, Hyd... |
OMIM:225790 |
| Cole-Carpenter Syndrome |
|
Turricephaly, Kyphosis, Delayed eruption of teeth, Short stature, Micrognathia, Midface retrusion... |
ORPHA:2050 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal cardiac septum morphology, Delayed eruptio... |
ORPHA:2484 |
| Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Brachycephaly, Mandibular prognathia, Plagiocephaly, Narrow palate, High palate, Cr... |
OMIM:618644 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Hypoplasia of the thymus, Truncus arteriosus, Optic atrophy, Abnormal thorax morphol... |
ORPHA:567 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Brachycephaly, Turricephaly, Short stature, Microtia, Micrognathia... |
ORPHA:2145 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Narrow chest, Long thorax, Severe short stature, Abnormal inte... |
ORPHA:2635 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Optic atrophy, Severe short stature, Focal T2 hyperintense thalamic lesion,... |
OMIM:619057 |
| Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Optic atrophy, Anterior hypopituitarism... |
ORPHA:138 |
| Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
| Caudal Regression Syndrome |
|
Chiari malformation, Arrhinencephaly, Missing ribs, Anal atresia, Pulmonary hypoplasia, Hypoplast... |
ORPHA:3027 |
| Achondrogenesis Type 1B |
|
Flat face, Short thorax, Long philtrum, Narrow chest, Micrognathia, Frontal bossing, Disproportio... |
ORPHA:93298 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Conductive hearing impairment, Delayed eruption of... |
ORPHA:2780 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Delayed closure of the anterior fontanelle, Scaphocephaly, Short s... |
OMIM:614886 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Microcephaly, ... |
ORPHA:63862 |
| Cooper-Jabs Syndrome |
|
Brachycephaly, Camptodactyly of finger, Conductive hearing impairment, Ventricular septal defect,... |
ORPHA:1488 |
| Atkin-Flaitz Syndrome |
|
Genu valgum, Kyphosis, Short stature, Coarse facial features, Exaggerated median tongue furrow, P... |
OMIM:300431 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... |
ORPHA:289 |
| Trisomy 18 |
|
Aplasia/Hypoplasia of the corpus callosum, Narrow palate, Ventricular septal defect, Chiari malfo... |
ORPHA:3380 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Natal tooth, Short stature, Absent p... |
OMIM:269300 |
| Zttk Syndrome |
|
Bifid uvula, Midface retrusion, Cervical ribs, Thin vermilion border, Ventricular septal defect, ... |
OMIM:617140 |
| Goldberg-Shprintzen Syndrome |
|
Megalocornea, Ventricular septal defect, Corneal erosion, Oligodontia, Short philtrum, Hypoplasia... |
OMIM:609460 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... |
OMIM:271530 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Flat face, Mandibular prognathia, High palate, Turricephaly, Short stature, Synost... |
ORPHA:710 |
| Stickler Syndrome, Type I |
|
Conductive hearing impairment, Micrognathia, Bifid uvula, Midface retrusion, Pectus excavatum, Be... |
OMIM:108300 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Vertebral segmentation def... |
ORPHA:1120 |
| Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Stapes ankylosis, Conductive hearing impairment, Delayed eruption of teeth, Midfac... |
OMIM:614188 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Conductive hearing impairment, Micrognathia, Hip dislocation, Pectus excava... |
ORPHA:536545 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, High palate, Cerebral cortical atrophy, Cerebellar hypoplasia, Simpl... |
OMIM:619072 |
| Split Lower Lip |
|
Narrow maxilla, Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition |
OMIM:183400 |
| Congenital Myopathy 13 |
|
Brachycephaly, Conductive hearing impairment, High palate, Short stature, Micrognathia, Midface r... |
OMIM:255995 |
| Femoral-Facial Syndrome |
|
Long philtrum, Short stature, Microtia, Vertebral segmentation defect, Micrognathia, Radioulnar s... |
ORPHA:1988 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, High palate, Abnormality of the elbow, Kyphosis, Rhizomelia, Short statu... |
ORPHA:3098 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Short stature, Cerebella... |
OMIM:300712 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Pulmonary artery atresia, Short ... |
OMIM:612946 |
| Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Coarctation of aorta, Hypoplast... |
ORPHA:2876 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Macrotia, Patellar hypoplasia, Micrognathia, Scoliosis, Protruding ear |
OMIM:251240 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Bile duct proliferation, Cleft p... |
OMIM:603194 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Scoliosis, Kyphosis |
OMIM:611225 |
| Oculoskeletodental Syndrome |
|
Hyperlordosis, Abnormality of thalamus morphology, Short stature, Thoracic kyphosis, Scoliosis, F... |
ORPHA:557003 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Brachyturricephaly, Delay... |
OMIM:613849 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Ovoid vertebral bodies, Disproportionate short-trunk short stature, Hearing impai... |
OMIM:253010 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Plagiocephaly, Thoracic hypoplasia, Micrognathia, Pectus excavatum, Hypertroph... |
ORPHA:96334 |
| Parastremmatic Dwarfism |
|
Genu valgum, Kyphosis, Severe short stature, Short neck, Scoliosis |
OMIM:168400 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Mandibular prognathia, Kyphosis, Elbow flexion contracture, Left ventri... |
OMIM:619040 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Short stature, Micrognathia, Short neck, Low-set, posteriorly rotated e... |
ORPHA:1486 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
