Dental Anomalies And Short Stature |
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Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspon... |
OMIM:601216 |
Mcdonough Syndrome |
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Mandibular prognathia, Low-set, posteriorly rotated ears, Short stature, Micrognathia, Pectus exc... |
ORPHA:2471 |
Spinocerebellar Ataxia 27A |
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Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Neurofaciodigitorenal Syndrome |
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Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Corneal dystrophy, Abnormal o... |
ORPHA:2673 |
Lujan-Fryns Syndrome |
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Narrow face, Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, P... |
ORPHA:776 |
Primary Condylar Hyperplasia |
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Abnormality of the temporomandibular joint, Macrodontia, Abnormal mandible condylar process morph... |
ORPHA:477781 |
Auriculocondylar Syndrome 2A |
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Overfolding of the superior helices, Round face, Posteriorly rotated ears, Dental crowding, Micro... |
OMIM:614669 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Mandibular prognathia, Narrow face, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Pectus... |
OMIM:300676 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... |
OMIM:614575 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Mandibular prognathia, Attached earlobe, Narrow face, Brachycephaly, Abnormal form of the vertebr... |
ORPHA:1327 |
Spinocerebellar Ataxia 6 |
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Cerebellar atrophy, Ataxia, Vertigo, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia, Ab... |
OMIM:183086 |
Hemifacial Atrophy, Progressive |
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Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Hemifacial at... |
OMIM:141300 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Short stature, Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of t... |
OMIM:156510 |
Maxillonasal Dysplasia, Binder Type |
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Large earlobe, Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion |
OMIM:155050 |
Maxillonasal Dysplasia |
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Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To... |
ORPHA:1248 |
Alpha-Mannosidosis |
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Mandibular prognathia, Craniofacial hyperostosis, Coarse facial features, Cataract, Corneal opaci... |
ORPHA:61 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Short stature, Kyphoscoliosis, Anteverted ears, Dental malocclusion, Macrotia |
OMIM:615541 |
Non-Syndromic Genetic Deafness |
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Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry |
OMIM:133900 |
Ciliary Dyskinesia, Primary, 40 |
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Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right... |
OMIM:618300 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Mandibular prognathia, Narrow face, Short stature, Hypoplasia of the maxilla, Brachycephaly, Macr... |
ORPHA:93950 |
Stickler Syndrome Type 1 |
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Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft pala... |
ORPHA:90653 |
20P12.3 Microdeletion Syndrome |
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Short stature, Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Micr... |
ORPHA:261295 |
X-Linked Intellectual Disability, Porteous Type |
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Mandibular prognathia, Narrow face, Short stature, Hypoplasia of the maxilla, Cupped ear, Short p... |
ORPHA:93945 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Attached earlobe, Cataract, Short stature, Dental malocclusion, Widely spaced teeth, Malar flatte... |
OMIM:616108 |
Three M Syndrome 2 |
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Delayed eruption of teeth, Frontal bossing, Scapular winging, Lumbar hyperlordosis, Short stature... |
OMIM:612921 |
Atelosteogenesis, Type Iii |
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Frontal bossing, Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Short neck, Hypopla... |
OMIM:108721 |
Familial Median Cleft Of The Upper And Lower Lips |
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Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Delayed eruption of teeth, Short stature, Dextrocardia, Abnormality of the philtrum, Micrognathia... |
ORPHA:2863 |
Florid Cemento-Osseous Dysplasia |
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Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Aarskog-Scott Syndrome |
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Low-set, posteriorly rotated ears, Delayed eruption of teeth, Round face, Short stature, Genu rec... |
ORPHA:915 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Attached earlobe, Short stature, Micrognathia, Short neck, Diastema, Dental malocclusion, Abnorma... |
ORPHA:436245 |
Auriculocondylar Syndrome 1 |
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Overfolding of the superior helices, Round face, Posteriorly rotated ears, Dental crowding, Micro... |
OMIM:602483 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Atrial septal defect, Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Acce... |
ORPHA:79113 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Heterotaxy, Visceral, 7, Autosomal |
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Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Short stature, Mi... |
ORPHA:1908 |
Nystagmus, Hereditary Vertical |
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Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Diabetic Embryopathy |
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Ventricular septal defect, Microcephaly, Abnormality of the pancreas, Hydrocephalus, Abnormal sac... |
ORPHA:1926 |
Septopreoptic Holoprosencephaly |
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Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Rhombencephalosynapsis, Mic... |
ORPHA:280195 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Frontal bossing, Short stature, Hypoplasia of the maxilla, Carious tee... |
ORPHA:50814 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
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Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Midface retrusion, Smooth ph... |
OMIM:618737 |
Mandibulofacial Dysostosis With Alopecia |
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Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cereb... |
ORPHA:504476 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... |
OMIM:619142 |
Dysostosis, Stanescu Type |
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Persistent open anterior fontanelle, Short stature, Abnormal dental enamel morphology, Short neck... |
ORPHA:1798 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Short stature, Midface retrusion, Abnormality of the dentition |
ORPHA:2776 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Short neck, Microcephaly, Aplas... |
ORPHA:2570 |
Meckel Syndrome, Type 4 |
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Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... |
OMIM:611134 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Short stature, Hypoplasia of the maxilla, Cubitus valgus, Sensorineural hearing impairment, Genu ... |
OMIM:608154 |
Potocki-Lupski Syndrome |
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Mandibular prognathia, Short stature, Dental crowding, Trigonocephaly, Micrognathia, Dental maloc... |
OMIM:610883 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Se... |
OMIM:109120 |
Mulibrey Nanism |
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Frontal bossing, Triangular face, Short stature, Corneal dystrophy, Dental crowding, Cardiomegaly... |
OMIM:253250 |
Crouzon Syndrome |
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Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha... |
ORPHA:207 |
Heterotaxy, Visceral, 6, Autosomal |
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Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Intellectual Developmental Disorder, X-Linked 58 |
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Narrow face, Dental malocclusion, Short philtrum, Long face |
OMIM:300210 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Craniofacial-Deafness-Hand Syndrome |
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Narrow face, Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Se... |
ORPHA:1529 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Harrod Syndrome |
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Narrow face, Cataract, Kyphosis, Dental malocclusion, Protruding ear, Abnormal shoulder morpholog... |
ORPHA:2115 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Pycnodysostosis |
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Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Deafness, Autosomal Recessive 103 |
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Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Frontonasal Dysplasia 1 |
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Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basa... |
OMIM:136760 |
Thoraco-Abdominal Enteric Duplication |
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Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... |
ORPHA:1759 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hypoplasia of the maxilla, Protruding ear |
OMIM:618302 |
Spinocerebellar Ataxia Type 15/16 |
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Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Amelogenesis Imperfecta, Type Iiia |
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Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Intellectual Disability, Buenos-Aires Type |
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Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Spondylospinal Thoracic Dysostosis |
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Hypoplasia of the maxilla, Short thorax, Multiple pterygia, Micrognathia |
OMIM:601809 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha... |
ORPHA:93262 |
Larsen-Like Syndrome |
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Joint dislocation, Frontal bossing, Short stature, Kyphoscoliosis, Dental malocclusion, Brachycep... |
OMIM:608545 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Thin upper lip vermilion, Posteriorly rotated ears, Short stature, Dental crowd... |
OMIM:617877 |
Intellectual Disability And Myopathy Syndrome |
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Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Dental malocclusion, ... |
OMIM:619719 |
Distal Deletion 13Q |
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Encephalocele, Short stature, Microcephaly, Anencephaly, Optic atrophy, Abnormal form of the vert... |
ORPHA:1590 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Vertigo... |
ORPHA:101110 |
Pentalogy Of Cantrell |
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Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Short stature, Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear, High palate |
ORPHA:85279 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
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Mandibular prognathia, Dental malocclusion, High palate, Mild short stature, Long face |
OMIM:618292 |
Carpenter Syndrome 1 |
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Micrognathia, Hypoplasia of the maxilla, Short neck, Brachycephaly, Microcornea, High palate, Atr... |
OMIM:201000 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Rubinstein-Taybi Syndrome 2 |
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Posteriorly rotated ears, Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... |
OMIM:613684 |
Coffin-Lowry Syndrome |
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Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Lessel-Kreienkamp Syndrome |
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Thin upper lip vermilion, Frontal bossing, Wide cranial sutures, Bicuspid aortic valve, Scaphocep... |
OMIM:619149 |
Microphthalmia With Limb Anomalies |
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Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Hypoplasia of the premaxilla, ... |
ORPHA:1106 |
Malan Syndrome |
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Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Pectus excavatum, Gingival ove... |
OMIM:614753 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... |
OMIM:314390 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Cataract, Short stature, Dental... |
OMIM:257850 |
Craniosynostosis 3 |
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Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Nance-Horan Syndrome |
|
Narrow face, Diastema, Developmental cataract, Microcornea, Screwdriver-shaped incisors, Mulberry... |
OMIM:302350 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Carpal ... |
OMIM:166300 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis... |
OMIM:610829 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Short neck, Micrognathia, Kyphosis, High palate, Low-... |
OMIM:618393 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Long f... |
ORPHA:2791 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Micrognathia, Facial asymmetry, Patellar dislocation, Low-set ears, I... |
ORPHA:96183 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Cata... |
OMIM:277600 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Neonatal death... |
OMIM:269860 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypopla... |
OMIM:608149 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Torus palatinus,... |
OMIM:144750 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Clef... |
ORPHA:1724 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Stillbirth, Abnormal cardiac s... |
ORPHA:294975 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Cerebellar cortical atrophy, Abnormal ve... |
ORPHA:247234 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Coarse facial features, Posteri... |
ORPHA:439822 |
Noonan Syndrome 4 |
|
Atrial septal defect, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Ventricular... |
OMIM:610733 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... |
ORPHA:79345 |
Vacterl/Vater Association |
|
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormality of the pancreas, Ab... |
ORPHA:887 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Short stature, Cataract, Micr... |
OMIM:212720 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... |
OMIM:619657 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... |
ORPHA:2790 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Abnormal pinna morphology, Dental crowding, Proportionate short stature, Microg... |
OMIM:210600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Cataract, Ventricular septal defect, Rhizomelia, C... |
ORPHA:93267 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism, Crowded maxillary incisors |
ORPHA:397973 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Cataract, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Wide... |
OMIM:608227 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, T... |
OMIM:613804 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Dental malocclusio... |
OMIM:608940 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Scapular winging, Short stature, Micrognathi... |
OMIM:190350 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Growth delay, E... |
ORPHA:782 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Iris coloboma, Shor... |
ORPHA:193 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Short st... |
OMIM:607812 |
Limb Body Wall Complex |
|
Atrial septal defect, Ectopia cordis, Spina bifida occulta, Iris coloboma, Aplasia/Hypoplasia inv... |
ORPHA:2369 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Holoprosencephaly 7 |
|
Flat occiput, Parietal bossing, Median cleft palate, Iris coloboma, Hypoplasia of the premaxilla,... |
OMIM:610828 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Conductive heari... |
ORPHA:794 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal pinna morphology, Underfolded helix, Craniosynostosis, Short neck, Hypoplasia of the max... |
ORPHA:178303 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Pugilistic facies, Hyperplasia ... |
OMIM:300280 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the pyramidal tract, Hypoplasia of the brainstem, Holoprosencephaly, Atrial septal ... |
OMIM:253800 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:216550 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Hypoplasia of the maxilla, Hip dislocation, Protruding ear, Pectus carin... |
ORPHA:481152 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Patent foramen ovale, Primar... |
ORPHA:89844 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Hydrocephalus, Abnormal lung lobati... |
ORPHA:1666 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Short stature, Microtia, Low-set ears, Narrow mouth, Cranio... |
OMIM:601088 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Pectus carinatum... |
OMIM:182212 |
Marden-Walker Syndrome |
|
Dextrocardia, Short neck, Micrognathia, Kyphosis, Postnatal growth retardation, High, narrow pala... |
OMIM:248700 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Cataract, Camptodactyly o... |
ORPHA:391474 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal heart morphology, Microcornea, Short p... |
OMIM:601499 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... |
ORPHA:560 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Microcephaly, Cleft palate, Growth delay, Hypoplastic left heart, Tran... |
ORPHA:1727 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Frontal bossing, Short stature, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial asymmetry, Hypoplasia of the maxilla, Brachycephaly, High palate, Scoliosis, Macrotia, Lon... |
OMIM:218000 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... |
OMIM:618363 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphoscoliosis, Grayish enamel, Micrognathia, Pectus ex... |
ORPHA:2980 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o... |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Brachycephaly, High palate, Thickened helices, Broad ribs... |
OMIM:608328 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Malformation of the hepatic duc... |
OMIM:614175 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu... |
OMIM:265380 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt... |
OMIM:241310 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Oro... |
ORPHA:2166 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Shprintzen-Goldberg Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi... |
ORPHA:2462 |
Ck Syndrome |
|
Narrow face, Posteriorly rotated ears, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Hi... |
OMIM:300831 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Sensorineural hearing impairm... |
ORPHA:261197 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Microcephaly, High palate, Transposition of the great arteries, Scolio... |
ORPHA:1913 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Short stature, Tarsal synostosis, Abnormali... |
ORPHA:1307 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of the cochlea, Wide mouth, P... |
ORPHA:251061 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Turriceph... |
OMIM:203550 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Short stature, Flat occiput, Kyphoscoliosis, High, narrow palate, Atlantoaxial abnormal... |
ORPHA:3433 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cle... |
ORPHA:77300 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Aplastic clavicle, Hamartoma of tongue, Short neck, Hydrocephalus, ... |
OMIM:616546 |
Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Ab... |
OMIM:265900 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Sacral dimple, Tented upper lip vermilion, Wide cranial sutures, Micrognathi... |
OMIM:601390 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Long face, Cataract, Micrognathia, Hypoplasia of the maxilla, Malar flatte... |
OMIM:620157 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Protruding ear, Short phi... |
ORPHA:85317 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Scapular winging, Short stature, Short mandibular rami, Dental crowding... |
OMIM:170390 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... |
OMIM:615108 |
Keipert Syndrome |
|
Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Hypoplasia of the maxilla, Se... |
ORPHA:2662 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... |
OMIM:613805 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... |
ORPHA:228396 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the elbo... |
ORPHA:3268 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormal cardi... |
ORPHA:2412 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion, Long face |
OMIM:608931 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, H... |
ORPHA:3145 |
Aarskog-Scott Syndrome |
|
Round face, Short stature, Short neck, Hypoplasia of the maxilla, Hypoplasia of the odontoid proc... |
OMIM:305400 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia, Short thorax, Disproport... |
ORPHA:1801 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Cerebellar hypoplasia... |
ORPHA:3240 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Persistenc... |
ORPHA:37553 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Spinal rigidity, Micrognathia, Pectus excavatum, Dental malocclusion, High pala... |
OMIM:617258 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Coarse facial features, Ventricular septal defect, Dextrocardia, Downtu... |
OMIM:618067 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Pulmonary hypoplasia,... |
OMIM:236500 |
Frank-Ter Haar Syndrome |
|
Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defe... |
OMIM:249420 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal... |
OMIM:234100 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ... |
ORPHA:950 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, C... |
ORPHA:2399 |
Muenke Syndrome |
|
Capitate-hamate fusion, Sensorineural hearing impairment, Dental malocclusion, Brachycephaly, Pla... |
OMIM:602849 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... |
ORPHA:245 |
8P Inverted Duplication/Deletion Syndrome |
|
Round face, Dextrocardia, Micrognathia, Short neck, Pectus excavatum, High, narrow palate, Abnorm... |
ORPHA:96092 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:600920 |
Constricting Bands, Congenital |
|
Encephalocele, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Scoliosis, Ectopia co... |
OMIM:217100 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Mohr Syndrome |
|
Median cleft lip, Short stature, Wormian bones, Accessory oral frenulum, Micrognathia, Hypoplasia... |
OMIM:252100 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Brachycepha... |
ORPHA:2095 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Microcephaly, Pyloric stenosis, Patent ductus arteriosus, Anencepha... |
OMIM:619148 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decreased calvarial oss... |
OMIM:259440 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio... |
ORPHA:1540 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, W... |
OMIM:259600 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... |
OMIM:615109 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... |
OMIM:220210 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Molar tooth sign on MRI, Agenesi... |
OMIM:249000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Narrow face, Frontal bossing, Ventricular septal defect, Dental crowdin... |
OMIM:309520 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Short stature, Kyphoscoliosis, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bo... |
OMIM:616583 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Short stature, Hyperlordosis, Micrognathia, Brachyce... |
ORPHA:1387 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cataract, Short stature, Micrognathia, Abnormality of the dentition, Sensorineural hearing impair... |
ORPHA:85321 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Conjunctival hyperemia |
OMIM:167730 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... |
OMIM:615761 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Short neck, Microgna... |
ORPHA:1703 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
OMIM:619797 |
Grant Syndrome |
|
Large face, Frontal bossing, Joint dislocation, Short stature, Micrognathia, Open bite, Abnormal ... |
ORPHA:2097 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... |
OMIM:157980 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Conductive hea... |
ORPHA:861 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Dextrocardia, Thoracolumbar scoliosis, Micrognathia, Spina bif... |
ORPHA:2437 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Zimmermann-Laband Syndrome |
|
Cataract, Micrognathia, Short neck, Supernumerary tooth, Sensorineural hearing impairment, Gingiv... |
ORPHA:3473 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Kyphoscoliosis... |
OMIM:614815 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Velopharyngeal insufficiency, Submucous... |
OMIM:192430 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature, Micrognathia, Carious teeth, Craniosynost... |
ORPHA:96097 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Short stature, Abnormal dental enamel morphology... |
ORPHA:582 |
Cleft Velum |
|
Short face, Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Conductiv... |
ORPHA:99772 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Malar prominence, Hyperl... |
ORPHA:2522 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Cleft palate, Low-set ears, ... |
OMIM:614261 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Downtur... |
OMIM:615546 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... |
OMIM:600001 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower li... |
ORPHA:293939 |
Microhydranencephaly |
|
Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:605013 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Exaggerated cupid's bow, Den... |
OMIM:619293 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Long face, Narrow face, Cataract, Abnormal pinna morphology, Round face, Facia... |
OMIM:123450 |
Cerebellofaciodental Syndrome |
|
Cataract, Ventricular septal defect, Short stature, Short neck, Dental malocclusion, Mitral valve... |
OMIM:616202 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lum... |
OMIM:253000 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Corneal dystrophy, Camptodactyly of finger, Dolichocephaly, Hypoplasia of ... |
ORPHA:1101 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Hypoplasia o... |
ORPHA:87 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... |
ORPHA:2255 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Severe short stature, Catara... |
ORPHA:2588 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Neonatal death, Atrial septal defect, Pulmonary artery atresia, Si... |
OMIM:601186 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Blue irides, B... |
OMIM:105830 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... |
OMIM:270100 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Kyphoscoliosis, Hypopla... |
OMIM:231070 |
Kabuki Syndrome 2 |
|
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Cupped ear... |
OMIM:300867 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Hemivertebrae, Brachycephaly, High palate, N... |
OMIM:213980 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Kyphosis, Wide mouth, Ev... |
ORPHA:2429 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia,... |
OMIM:616462 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Short neck, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Gro... |
ORPHA:251071 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Genu recurvatum, Campto... |
ORPHA:137834 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Gingival overgrow... |
OMIM:179613 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Usher Syndrome |
|
Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Apl... |
ORPHA:886 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... |
OMIM:224690 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Rieger anomaly, Cataract, Micrognathia, Sensorineural... |
OMIM:269880 |
Mosaic Trisomy 9 |
|
Micrognathia, Short neck, Hemivertebrae, High palate, Biparietal narrowing, Endocardial fibroelas... |
ORPHA:99776 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Int... |
OMIM:265000 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Short stature, Anomalous origin of left coronary artery from the pulmonar... |
ORPHA:2326 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short stature, Short neck, Thick l... |
ORPHA:2563 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, High, narrow palate, Cereb... |
OMIM:616920 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... |
ORPHA:2345 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Ventricular septal defect, Short stature, Spina bifida, Microcephaly, Kyp... |
ORPHA:1393 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... |
ORPHA:97360 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Micro... |
ORPHA:48431 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Round face, Deep philtrum, Everted lower lip vermilion, Long philtr... |
OMIM:137550 |
Sclerosteosis 1 |
|
Mandibular prognathia, Large face, Frontal bossing, Sclerotic scapulae, Broad clavicles, Dental m... |
OMIM:269500 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Long philtrum |
ORPHA:2598 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Dental malocclusion, Elbow flexion contracture, K... |
ORPHA:2920 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Flexion contracture of finger, Corneal opacity, Micro... |
OMIM:601812 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Short stature, Brachycephaly, Growth delay, Microcornea, High palate, Narrow mouth, Ret... |
ORPHA:2528 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Narrow face, Flat occiput, Dental crowding, Short neck, Micrognathia, High palate, Short philtrum... |
ORPHA:251028 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Square face, Postnatal growth retardation, Thick lower lip vermilion, Brac... |
OMIM:309545 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Short stature, Microgna... |
OMIM:613803 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Micrognathia, Hypoplasia of the m... |
OMIM:300534 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Pectus excavatum, Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth... |
ORPHA:166024 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Brachycephaly, Pectus carin... |
OMIM:615419 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow, Intestinal m... |
OMIM:618316 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Severe short stature, Micrognathia, Carious teeth, Kyphosis, O... |
ORPHA:2617 |
Friedreich Ataxia |
|
Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Dystonia, Intention tremor,... |
ORPHA:95 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Co... |
OMIM:300373 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cl... |
OMIM:106260 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Action tremor, Abnormal cerebellum morphology, Brady... |
ORPHA:98762 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Frontal bossing, Coarse facial features, Posteriorly rotated ears, Short st... |
OMIM:617808 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Protruding... |
OMIM:612474 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,... |
ORPHA:1452 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... |
ORPHA:2616 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Abnormality of th... |
ORPHA:210110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis, Protruding ear |
OMIM:300861 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper... |
ORPHA:2839 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Joint dislocation, Camptodactyly... |
ORPHA:628 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Micrognathia, Kyphosis, Narrow mouth, Abnormal heart morphology, Joint contracture... |
ORPHA:352490 |
Lateral Meningocele Syndrome |
|
Narrow face, Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the... |
ORPHA:2789 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Micrognathia, Kyphosis, Deep philtrum, Narrow mouth, Brachycephaly, Wide mouth, Um... |
OMIM:615834 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Brachycephaly, Do... |
ORPHA:1299 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, ... |
OMIM:234250 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Posteriorly rotated ears, Short stature, Kyphosis, Pectus carinatum, Delayed ossificati... |
OMIM:618392 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal anat... |
ORPHA:2461 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Genu recurvatum, Situs inversus totalis, Kyphosis, Mitral valve prolapse, ... |
OMIM:609008 |
Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... |
OMIM:158350 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ... |
ORPHA:828 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Hypoplastic vertebral bodies, Narrow chest,... |
OMIM:215140 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Moyamoya phenomenon, Dilated ca... |
OMIM:300845 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, Proportionate short stature, ... |
OMIM:227330 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... |
ORPHA:2554 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Cerebral white matter atrophy, Short stature, ... |
ORPHA:356961 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophag... |
ORPHA:1780 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Catarac... |
ORPHA:444072 |
Renpenning Syndrome |
|
Mandibular prognathia, Narrow face, Severe short stature, Cataract, Macrodontia, Pectus excavatum... |
ORPHA:3242 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli... |
ORPHA:300570 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Frontal bossing, Short stature, Micrognathia, Short neck, Kyphosis, Aplasi... |
ORPHA:3082 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Cerebral white matter atrophy, Ventricular septal defect, High, narrow palate, Pat... |
ORPHA:435638 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Short stature, Left atrial enlargement, Dental crowding,... |
OMIM:614008 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Partial anomalo... |
OMIM:617478 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Microcornea, High palate, Wrist flexion contracture, ... |
ORPHA:800 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrod... |
ORPHA:2916 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Short neck, Downturned corners of mouth, Patent foramen ov... |
OMIM:616894 |
Weismann-Netter Syndrome |
|
Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... |
OMIM:112350 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Triangular face, Wormian bones, Protrusio acetabuli, Micrognathia, Kyphosis, Thi... |
OMIM:259420 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Long face, Abnormal oral mucosa morphology, Camptodactyly of f... |
ORPHA:1968 |
Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Limited elbow movement, Protruding ear, Limitation of knee mobility, High palate, H... |
ORPHA:319171 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Megalocornea, Bifid... |
OMIM:211380 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing impairment, Pre... |
OMIM:102500 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Carious te... |
OMIM:615560 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... |
OMIM:608257 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root aneurysm, Transpos... |
OMIM:619910 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Short stature, Micrognathia,... |
ORPHA:1131 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Microcephaly, Esophageal atresia, Abnorma... |
ORPHA:3380 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Carious teeth, Genu v... |
ORPHA:1110 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral whit... |
ORPHA:363717 |
Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:63862 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck, Abnormal cervical myelogram, Platybasia, Craniofacial asymmetry |
OMIM:109500 |
Poland Syndrome |
|
Dextrocardia, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly |
OMIM:173800 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Bile duct prolifer... |
OMIM:603194 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... |
ORPHA:96129 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Sensorineural hearing impairment, Dental malo... |
OMIM:616737 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Posteriorly rotated ears, Short stature, Kyphoscoliosis, Growth delay, Low-set ears, Malar flatte... |
OMIM:614727 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Triangular face, Short stature, Wide cranial su... |
OMIM:616294 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Micrognathia, Kyphosis, High palate, Scoliosis, Low-set ears, Retrognathia |
OMIM:611890 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Trismus, Whistling appear... |
OMIM:277720 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Atrophy/Degeneration affecting the bra... |
ORPHA:135 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum... |
ORPHA:250989 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin lower lip v... |
ORPHA:363444 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hemivertebrae, Abnormal rib morphology,... |
ORPHA:2180 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Frontal bossing, Coarse facial features, Short stature, Abnormal rib m... |
ORPHA:1513 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Thoracic scoliosis, Cataract, Short stature, Selective tooth agenesis, Micrognathia, Band keratop... |
ORPHA:2959 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Microcephaly, Patent ductus arteriosus, Porencephalic cyst, Chiari malformation, Atrial septal de... |
ORPHA:254351 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Hemifacial hypoplasia, Persistence of primary teeth, Conical tooth, Dental malocclusion... |
OMIM:618727 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Dental crowding, Hypoplasia of the maxilla, Humeroradial... |
OMIM:101600 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Short stature, Cleft palate, Glossoptosis, Atrial septal defect, Oral ... |
ORPHA:1388 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... |
ORPHA:236 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Short neck... |
OMIM:608156 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, Downturned corners of mo... |
OMIM:618371 |
Autosomal Recessive Stickler Syndrome |
|
Cataract, Short stature, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgu... |
ORPHA:250984 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Facial asymmetry, Ectopia lentis, Pectus excavatum, Cubitus valgus, Denta... |
OMIM:601552 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Short neck, Deep philtrum, Pectus carinatum, High palate, Atrial septal defect, Sho... |
OMIM:115150 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hearing impairment, Cleft upper lip, Postnatal growth retardation, ... |
OMIM:265050 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Megalencephaly, Kyphosis, Hydrocephalus, Thick cor... |
OMIM:603387 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Narrow face, Cataract, Short stature, Malar prominence, Wide mouth, Large ... |
ORPHA:2715 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Scoliosi... |
ORPHA:329178 |
Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Spina bifida oc... |
OMIM:273750 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Short stature, Pectus excavatum, Kyphosis, Pectus carinatum, Oligodontia, Everte... |
ORPHA:276630 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... |
OMIM:264480 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal optic disc morphology, Gastroesop... |
ORPHA:397715 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Short stature, Ectopia lentis, Pectus excavatum, Hyperextensibility of the kne... |
OMIM:130000 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Short stature, Prominent crus of helix, Parietal forami... |
OMIM:101400 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Brac... |
OMIM:618644 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Microcephaly, Hypoplasi... |
ORPHA:79321 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Severe short stature, Rhizomelia, Kyphoscoliosis, Micrognathia, Sensorineural he... |
OMIM:215100 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar... |
OMIM:313850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Brachycephaly, Short philtrum, H... |
ORPHA:96121 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, Sp... |
ORPHA:2780 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormal heart morph... |
ORPHA:314679 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Short neck, Micrognathia, Kyphosis, Membranous ... |
ORPHA:3191 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Posteriorly rotated ears, Hyperlordosis, Scoliosis, Dolichocephaly, Intraut... |
OMIM:617352 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Down-sloping shoulders, Craniosynostosis, Micrognathia, Pectus excavatu... |
OMIM:611174 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Short stature, Cam... |
ORPHA:1488 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High palate, Bifid u... |
OMIM:616145 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Narrow face, Hypoplastic scapula... |
ORPHA:958 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Optic atrophy, Cerebral atrophy, Growth delay, Focal T2 hyperintense thalam... |
OMIM:619057 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Short stature, Delayed cra... |
ORPHA:2484 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Short stature, Abnormal dental enamel m... |
ORPHA:2050 |
Charge Syndrome |
|
Aqueductal stenosis, Hemivertebrae, Gastroesophageal reflux, Holoprosencephaly, Aplasia/Hypoplasi... |
ORPHA:138 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Short stature, Craniosynostosis, Micrognathia, Abnormal rib morphology, Brachycepha... |
ORPHA:2145 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Round face, Short stature, Dental crowding, Growt... |
OMIM:620370 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Wormian bones, Short stature, Dental crowding, Carious teeth,... |
OMIM:269300 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Scaphoce... |
OMIM:614886 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,... |
ORPHA:2635 |
Achondrogenesis Type 1B |
|
Frontal bossing, Severe short stature, Short neck, Micrognathia, Short thorax, Abnormal rib morph... |
ORPHA:93298 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, High palate, Scoliosis |
OMIM:611225 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Hypoplastic scapulae, Rhizomel... |
OMIM:166250 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal rib morphology, Abnormal ... |
ORPHA:1120 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ... |
OMIM:617542 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Turricephaly, Short stature, Hyperlordosis, Short neck, Hypoplasia of the ... |
ORPHA:710 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palat... |
OMIM:617140 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Conical incisor, Narrow chest, Microdontia, Atrial septal defect... |
ORPHA:289 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... |
OMIM:614188 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Scoliosis,... |
OMIM:108300 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, H... |
OMIM:619072 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Short neck, Hypoplasia of the maxilla, Corneal erosion, Oligodontia, S... |
OMIM:609460 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormali... |
ORPHA:3098 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Microcornea, K... |
ORPHA:536545 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib m... |
ORPHA:1988 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Abnormal rib morphology, Ab... |
ORPHA:2876 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Disproportionate shor... |
OMIM:271530 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Ventricular septal defect, Short stature, Microcephaly, ... |
OMIM:300712 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... |
OMIM:619040 |
Oculoskeletodental Syndrome |
|
Short stature, Hyperlordosis, Dysplastic corpus callosum, Stroke, Thoracic kyphosis, Scoliosis, F... |
ORPHA:557003 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie... |
OMIM:619995 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Hyperlordosis, Hypoplasia of the... |
OMIM:253010 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short... |
ORPHA:96334 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Midface retrusion, Short stature, Micrognathia, Pectus carinatum, Prog... |
OMIM:613849 |
Ververi-Brady Syndrome |
|
Short stature, Microcephaly, High palate, Transposition of the great arteries, Scoliosis, Intraut... |
OMIM:617982 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Brachycephaly, Pectus carinatum, Bifid uvula, Syno... |
OMIM:101200 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Short neck, Primary microcephaly, Patent ductus arterios... |
OMIM:256520 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... |
OMIM:130060 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Short neck, Micrognathia, Abnormality of the el... |
ORPHA:1486 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Hig... |
OMIM:612946 |
Codas Syndrome |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the odontoid process, Broad skull, Crypto... |
OMIM:600373 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Tongue fascicu... |
OMIM:253300 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Microceph... |
ORPHA:564 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo... |
OMIM:613680 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... |
ORPHA:467166 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Dextrocardia, Sprengel anoma... |
OMIM:618929 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Eng-Strom Syndrome |
|
Short stature, Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology, S... |
ORPHA:1937 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Frontal bossing, Coarse facial features, Genu recurvatum, Kypho... |
OMIM:300602 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... |
OMIM:612284 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Turricephaly, Severe short stature, Abnormal dental enamel mor... |
ORPHA:1005 |
Rapp-Hodgkin Syndrome |
|
Short stature, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velophar... |
OMIM:129400 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Glossoptosis, Thorac... |
OMIM:602535 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Short stature, Dextrocardia, Abnormality of the dentition, Sensorineur... |
ORPHA:2315 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... |
ORPHA:3304 |
Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment, Cataract, Kyphoscoliosis |
OMIM:136300 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Long face, Delayed eruption of primary teeth, Kyphosis, Developmental cata... |
ORPHA:90322 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries, Short neck |
OMIM:616789 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Catar... |
ORPHA:568 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality ... |
OMIM:601076 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Abnormal heart mor... |
ORPHA:254525 |
Monosomy 18P |
|
Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Brachyc... |
ORPHA:1598 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Craniofacial ost... |
OMIM:122860 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Pos... |
OMIM:614541 |
Winchester Syndrome |
|
Arthropathy, Coarse facial features, Corneal opacity, Kyphosis, Gingival overgrowth, Carpal osteo... |
OMIM:277950 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Cataract, Abnormal rib morphology, Downturned corners of mouth, Intrauterin... |
ORPHA:2643 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck |
ORPHA:2744 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hearing impairment... |
ORPHA:1883 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... |
OMIM:617751 |
Microphthalmia, Syndromic 2 |
|
Narrow face, Anteverted ears, Microcornea, Oligodontia, Fused teeth, Atrial septal defect, Iris c... |
OMIM:300166 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Abnormal heart morphology, Abnormal cere... |
ORPHA:79264 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Everted lower lip vermilion, ... |
OMIM:249670 |
Anencephaly 2 |
|
Anencephaly, Median cleft palate |
OMIM:619452 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Scoliosis |
ORPHA:816 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atrioventric... |
OMIM:613792 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal odontoid process morphology, Kyphoscoliosis, Abnormal mandible condylar process morpholo... |
ORPHA:2976 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Long face, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Prominent protru... |
ORPHA:480907 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Kyphosis, Cleft palate, Abnormal heart morphol... |
ORPHA:404440 |
Hydrolethalus |
|
Absent septum pellucidum, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, ... |
ORPHA:2189 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Protruding ... |
ORPHA:261144 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Flat face |
OMIM:122880 |
Mirage Syndrome |
|
Short stature, Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus, Esophageal stricture, H... |
OMIM:617053 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Bifid uvula... |
OMIM:616580 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral calcification, Cerebral hemorrhage, Diffuse alveolar hemorr... |
ORPHA:464321 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Rib fusion, Cleft p... |
ORPHA:50 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... |
OMIM:615524 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, A... |
ORPHA:2645 |
Fanconi Anemia, Complementation Group S |
|
Coarse facial features, Macrodontia, Short stature, Dental malocclusion, Narrow palate, Thick upp... |
OMIM:617883 |
Wieacker-Wolff Syndrome |
|
Short stature, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Hip dislocation, High palate, N... |
OMIM:314580 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Pectus excavatum, Dental malocclusion, Narrow ... |
OMIM:618975 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Brachycephaly, Abno... |
ORPHA:666 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal ... |
ORPHA:1166 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Missing ribs, Short neck, Hyperlordosis, ... |
ORPHA:1797 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Camptodactyly of finger, Cranio... |
ORPHA:83 |
3C Syndrome |
|
Short neck, High, narrow palate, Hemivertebrae, Abnormal tricuspid valve morphology, Gastroesopha... |
ORPHA:7 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Abnormal thorax morphology, Abnormal heart morphology,... |
ORPHA:1708 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short stature, Short nec... |
ORPHA:2311 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Low-set, posteriorly rotated ears, Short stature, Abnormality of the dentition... |
ORPHA:1786 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Cataract, Short stature, Congenital bilateral hip dislocation |
ORPHA:85288 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Malar ... |
OMIM:614524 |
Alagille Syndrome |
|
Keratoconus, Frontal bossing, Round face, Coarse facial features, Ventricular septal defect, Corn... |
ORPHA:52 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Posteriorly rotated ears, Short stature, Short neck, Kyphosis... |
OMIM:301041 |
Codas Syndrome |
|
Delayed eruption of teeth, Cataract, Ventricular septal defect, Abnormal dental enamel morphology... |
ORPHA:1458 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Mic... |
OMIM:258850 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing... |
OMIM:130720 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Genu ... |
OMIM:223800 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septa... |
ORPHA:2044 |
14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Ever... |
ORPHA:261120 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Hyd... |
ORPHA:163979 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Recurrent respiratory infections, Hepatic steatosis,... |
ORPHA:17 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... |
OMIM:614424 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Short stature |
ORPHA:2835 |
Mosaic Trisomy 8 |
|
Long face, Frontal bossing, Abnormal pinna morphology, Short stature, Corneal opacity, Micrognath... |
ORPHA:96061 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip dislocation, Elbow flexion contracture, ... |
ORPHA:75840 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Orofacial cleft |
ORPHA:220493 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... |
ORPHA:2306 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Postnata... |
ORPHA:487796 |
Trisomy 13 |
|
High, narrow palate, Narrow chest, Atrial septal defect, Iris coloboma, Abnormal rib morphology, ... |
ORPHA:3378 |
Distal Duplication 6P |
|
Frontal bossing, Sacral dimple, Cataract, Short stature, Short neck, Micrognathia, Aplasia/Hypopl... |
ORPHA:1745 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Frontal bossing, Short stature, Micrognathia, Kyphosis, Sensorineural hearing impai... |
ORPHA:2479 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro... |
OMIM:613668 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature, Narrow mouth |
OMIM:270460 |
Chromosome 5Q12 Deletion Syndrome |
|
Frontal bossing, Sacral dimple, Coarse facial features, Posteriorly rotated ears, Ventricular sep... |
OMIM:615668 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Pectus carinatum, Knee flexion co... |
OMIM:121050 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Cataract, Short stature, Short neck, Pectus excavatum, Cleft ... |
OMIM:618571 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Protruding ear, Pectus carinatum, High palate, Widely spaced teeth, Short ... |
OMIM:303600 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Short stature, Limited elbow movement, Short neck, Postnatal growth ret... |
OMIM:300590 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Sh... |
OMIM:614294 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Micrognathia, Pectus excavatum, Kyphosis, Umbilical hernia |
OMIM:618272 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... |
OMIM:619534 |
Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Abnormal globus pallidus morphology, Abnormal caudate nucleus morph... |
ORPHA:397725 |
Faciocardiomelic Syndrome |
|
Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Narrow chest, Long... |
OMIM:612731 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... |
OMIM:209885 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Cubitus valgus, Protruding ear, Genu valgum, Hypoplasia of the zygomatic b... |
ORPHA:1778 |
Distal Triplication 15Q |
|
Corneal dystrophy, Craniosynostosis, Micrognathia, Kyphosis, Sensorineural hearing impairment, Cu... |
ORPHA:314588 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Short thorax, Patent ductus arteriosus, Ap... |
ORPHA:93274 |
Toluene Embryopathy |
|
Short stature, Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic b... |
ORPHA:1920 |
Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Short stature, Delayed eruption of primary ... |
OMIM:265800 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Pectus excavatum, Patent ductus arteriosus, Lateral ven... |
OMIM:618330 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cataract, Block vertebrae, Spina bifida, Missing ribs, Postnatal gr... |
OMIM:304050 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne... |
OMIM:261540 |
Noonan Syndrome 1 |
|
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... |
OMIM:163950 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa... |
OMIM:216360 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Dolichocephaly, Dental malocclusion, Prot... |
OMIM:606232 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Short stature, Short neck, Pectus excavatum... |
ORPHA:52055 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Hypoplastic scapulae, Short stature, Short neck, Hypoplasia of the odontoid ... |
OMIM:607326 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Ventricular septal defect, Short stature, Dental crowding, Carious teeth, Kyphos... |
OMIM:617602 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, Increased ver... |
OMIM:616817 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Seckel Syndrome 8 |
|
Short stature, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration... |
OMIM:236680 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Short stature, Kyphosis, Dental malocclusion, Disproportionate short-t... |
ORPHA:1855 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Vertebra... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Vertebra... |
ORPHA:352665 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... |
ORPHA:477817 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Developmental cataract, Growth d... |
OMIM:610756 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, ... |
ORPHA:306542 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Micrognathia, Secundum atrial septal defect, Pectus carinatum, High palate, Macrotia, Hyperplasia... |
OMIM:620194 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Facial as... |
OMIM:617061 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Hyper... |
ORPHA:3253 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Cryptorchidism, Wide mouth, H... |
OMIM:618846 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... |
OMIM:119600 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrain morpho... |
ORPHA:314621 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Glossoptosis, Barrel-shaped chest, A... |
ORPHA:94068 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia |
OMIM:614326 |
Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Micrognathia, Kyphosis, Pectus excav... |
ORPHA:536516 |
Digeorge Syndrome |
|
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Gastroeso... |
OMIM:188400 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micrognathia, Short neck, Deep philtrum, Pectus ca... |
OMIM:255800 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Frontal bossing, Severe short stature, Short neck, Micrognathia, Short th... |
ORPHA:93299 |
Myopathy, Centronuclear, X-Linked |
|
Narrow face, Dental malocclusion, High palate, Dolichocephaly, Long face |
OMIM:310400 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd... |
ORPHA:96169 |
Crisponi Syndrome |
|
Large face, Camptodactyly of finger, Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth... |
ORPHA:1545 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion borde... |
OMIM:615502 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... |
OMIM:614249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, 11 pairs of ribs, Agenesis of cerebellar ve... |
OMIM:615287 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, High palate, Cleft palate |
OMIM:615731 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, High-frequency sensorineural hearing impairment, Frontal bossing, Postnata... |
ORPHA:2324 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Microcephaly, A... |
OMIM:164280 |
Leigh Syndrome |
|
Gastrointestinal dysmotility, Encephalomalacia, Neutropenia, Focal T2 hyperintense basal ganglia ... |
ORPHA:506 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, T2 hypointense thalamus, Cerebral atrophy, Vascular granul... |
ORPHA:1947 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Triangular face, Short stature, Dental crowding, Kyphoscoliosis, Hypoplasi... |
OMIM:617402 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Cleft palate, Holoprosencephaly,... |
OMIM:202650 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Stomatitis, Dextrocardia, Short stature, Patent ductus arteriosus, Trac... |
OMIM:277380 |
Cenani-Lenz Syndrome |
|
Frontal bossing, Cataract, Abnormal dental enamel morphology, Elbow dislocation, High, narrow pal... |
ORPHA:3258 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Short neck, Osteoarthritis, Narrow chest, Genu varum, Microretrognathia, Hyper... |
OMIM:251450 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bile duct proliferation, Anencephaly, Cleft palate |
OMIM:611561 |
Flynn-Aird Syndrome |
|
Cataract, Carious teeth, Kyphosis, Scoliosis, Progressive sensorineural hearing impairment |
ORPHA:2047 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Short stature, Genu recurvatum, Uplifted earlobe, Kyphosis, Brachycephaly,... |
ORPHA:364028 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Microg... |
OMIM:616897 |
Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Brachycephaly, Protruding ear, Pectus carinatum, Knee flexion co... |
OMIM:614976 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Camptodactyly of finger, Hypoplasia of the maxilla, Corneal erosion, Growth dela... |
ORPHA:920 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Short stature, Kyphoscoliosis, Micrognathia, Camptodactyly of finger, H... |
OMIM:610758 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Borjeson-Forssman-Lehmann Syndrome |
|
Coarse facial features, Short stature, Kyphosis, Scoliosis, Delayed puberty, Macrotia, Thickened ... |
OMIM:301900 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia, Short stature |
ORPHA:391646 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Ast... |
OMIM:609029 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Short stature, Rhizomelia, Micrognathia, Thin ribs, Wide mouth, Platyspondyly, S... |
ORPHA:163966 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe... |
OMIM:619306 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi... |
OMIM:616276 |
Oculofaciocardiodental Syndrome |
|
Narrow face, Microcornea, Oligodontia, Fused teeth, Iris coloboma, Abnormal cardiac septum morpho... |
ORPHA:2712 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Abnormal heart morph... |
ORPHA:401935 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, E... |
OMIM:192350 |
Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... |
OMIM:224300 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Atria... |
OMIM:180849 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Hearing impairment, ... |
ORPHA:49042 |
Cherubism |
|
Jaw swelling, Round face, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodon... |
OMIM:118400 |
Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia ... |
ORPHA:238468 |
Hypomandibular Faciocranial Dysostosis |
|
Midface retrusion, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Brachyceph... |
ORPHA:1790 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abno... |
ORPHA:263463 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617404 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Gastroe... |
OMIM:249270 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... |
OMIM:184100 |
Mucolipidosis Iii Gamma |
|
Coarse facial features, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Gen... |
OMIM:252605 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation de... |
OMIM:312870 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Severe short stature, Posteriorly rotated ears, Cataract, Anisospondyly,... |
OMIM:224410 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Coarse facial features, Short stature, Abnormality of the... |
OMIM:615547 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Hydrocephalus, Short thorax, Patent ductus arteriosus, Kyph... |
ORPHA:2655 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pectus excav... |
ORPHA:2970 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, High palate, Short philtrum, Scoliosis, Intrauterine ... |
ORPHA:254531 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:616652 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... |
OMIM:619769 |
Dyskeratosis Congenita |
|
Cataract, Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, ... |
ORPHA:1775 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Gastrointestinal dysmotility,... |
OMIM:619189 |
Martin-Probst Syndrome |
|
Short stature, Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental ... |
OMIM:300519 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Short stature, Kyphoscoliosis, Microcephaly, Pectus excavatum, Se... |
ORPHA:1600 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Prominent occiput,... |
OMIM:619122 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Short stature, Microcephaly, Esophageal atresia, Patent duct... |
ORPHA:391641 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Abnormality of the philtrum, Camptodactyly of finger, Short neck, Micrognathia, Ky... |
ORPHA:3409 |
Cousin Syndrome |
|
Hypoplastic scapulae, Long clavicles, Rhizomelia, Short neck, Hydrocephalus, Disproportionate sho... |
OMIM:260660 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Cataract, Ovoid vertebral bodies, Short neck, Micrognathia, Abnormality of the e... |
ORPHA:163649 |
Mucopolysaccharidosis Type 6 |
|
Coarse facial features, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short... |
ORPHA:583 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Low-set ears, Narrow mouth, Microg... |
OMIM:612776 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Ventricular septal defect, Tented upper lip vermilion, Uplifted earlobe, Kyphosis, Clef... |
OMIM:616449 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft pal... |
OMIM:619184 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Thoracic scoliosis, Peripheral axonal neu... |
ORPHA:254930 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Pectus carinatum, Bifid uvula, Barrel-shaped chest, Lumbar hy... |
OMIM:183900 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hemivert... |
OMIM:164210 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Recurre... |
ORPHA:500159 |
Cockayne Syndrome B |
|
Mandibular prognathia, Severe short stature, Abnormal pinna morphology, Delayed eruption of prima... |
OMIM:133540 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Long philtrum, Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Atrial septal defect, Hepatomegaly, Patent ductus arteriosus... |
OMIM:614576 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Large face, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Short neck, Keratitis, Elbow fl... |
OMIM:272430 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... |
OMIM:180500 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anenceph... |
ORPHA:63259 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Narrow chest, Abnormal vertebral segmentation and fusion... |
ORPHA:90652 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cryp... |
ORPHA:2059 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Coarse facial features, Short stature, Hyperopic astigmatism, Craniosynost... |
OMIM:252600 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Long face, Thin upper lip vermilion, Round face, Short stature, Thoracolumbar scoliosis, Macrodon... |
OMIM:618443 |
Restrictive Dermopathy |
|
Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Widely p... |
ORPHA:1662 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Pectus carinatum, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... |
OMIM:619717 |
Congenital Disorder Of Glycosylation, Type Iia |
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Mandibular prognathia, Short neck, Brachycephaly, Short stature, Thoracolumbar kyphoscoliosis, Di... |
OMIM:212066 |
Holoprosencephaly 2 |
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Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, A... |
OMIM:157170 |
Bosma Arhinia Microphthalmia Syndrome |
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Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, Cleft lip, Dental... |
OMIM:603457 |
Kleefstra Syndrome 2 |
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Kyphosis, Growth delay, Plagiocephaly, Everted lower lip vermilion, Scoliosis, Midface retrusion,... |
OMIM:617768 |
Arthrogryposis, Distal, Type 3 |
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Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Microgn... |
OMIM:114300 |
Shashi-Pena Syndrome |
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Long face, Thin upper lip vermilion, Posteriorly rotated ears, Kyphosis, Cupped ear, Low-set ears... |
OMIM:617190 |
Pericardial And Diaphragmatic Defect |
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Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Bartsocas-Papas Syndrome 1 |
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Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short neck, Cleft upper lip, Cuppe... |
OMIM:263650 |
Coach Syndrome 2 |
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Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... |
OMIM:619111 |
Aneurysm-Osteoarthritis Syndrome |
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Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Long face, Pulmo... |
ORPHA:284984 |
Trichorhinophalangeal Syndrome Type 1 |
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Frontal bossing, Short stature, Camptodactyly of finger, Hyperlordosis, Micrognathia, Abnormality... |
ORPHA:77258 |
Charge Syndrome |
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Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Hemivertebr... |
OMIM:214800 |
16Q24.3 Microdeletion Syndrome |
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Long face, Frontal bossing, Ventricular septal defect, Micrognathia, Kyphosis, Dilated cardiomyop... |
ORPHA:261250 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... |
OMIM:600987 |
Diamond-Blackfan Anemia 6 |
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Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
Genitopalatocardiac Syndrome |
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Micrognathia, Kyphosis, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Abnorma... |
ORPHA:2075 |
Osteogenesis Imperfecta, Type Xi |
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Triangular face, Short stature, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Vertebral wed... |
OMIM:610968 |
Baraitser-Winter Syndrome 1 |
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Thin upper lip vermilion, Midface retrusion, Bicuspid aortic valve, Short stature, Short neck, Po... |
OMIM:243310 |
Axial Mesodermal Dysplasia Spectrum |
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Abnormality of the knee, Short stature, Short neck, Micrognathia, Missing ribs, Abnormal rib morp... |
ORPHA:1834 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Abnormal clavicle morphology, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel... |
ORPHA:85199 |
Cockayne Syndrome A |
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Mandibular prognathia, Hip contracture, Cataract, Abnormal pinna morphology, Short stature, Delay... |
OMIM:216400 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Abnormal facial shape, Long face |
ORPHA:3044 |
Triploidy |
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Intestinal malrotation, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mou... |
ORPHA:3376 |
Congenital Disorder Of Glycosylation, Type Iig |
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Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation defect, High p... |
OMIM:611209 |
Holt-Oram Syndrome |
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Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... |
ORPHA:392 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... |
OMIM:618193 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Sacral dimple, Congenital hip dislocation, Abnormal pinna morphology, Micrognathia, Kyphosis, Hip... |
OMIM:618291 |
Acitretin/Etretinate Embryopathy |
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Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Antecubital pterygium, Conotruncal d... |
ORPHA:40366 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Osteogenesis Imperfecta, Type Xiii |
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Triangular face, Short stature, Kyphoscoliosis, Protruding ear, Pectus carinatum, Enlarged thorax... |
OMIM:614856 |
Emanuel Syndrome |
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High palate, Gastroesophageal reflux, Atrial septal defect, Agenesis of corpus callosum, Bifid uv... |
ORPHA:96170 |
Fetal Minoxidil Syndrome |
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Umbilical hernia, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
Hajdu-Cheney Syndrome |
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Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ... |
ORPHA:955 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
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Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb |
OMIM:618646 |
Atrial Septal Defect 4 |
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Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Cerebral calcification, Basal ganglia calcification, Cerebellar calcifications, Thalamic calcific... |
OMIM:615483 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Mandibular prognathia, Coarse facial features, Abnormal pinna morphology, Short stature, Kyphosis... |
OMIM:300354 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Kyphosis, Scoliosis, Hearing impairment |
OMIM:617087 |
8p23.1 deletion syndrome |
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Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Orofaciodigital Syndrome Vi |
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11 pairs of ribs, Cerebellar vermis hypoplasia, Short stature, Hamartoma of tongue, Porencephalic... |
OMIM:277170 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Truncus a... |
OMIM:611867 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Hip sublu... |
OMIM:268305 |
Holoprosencephaly 13, X-Linked |
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Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, ... |
OMIM:301043 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
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Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Ruijs-Aalfs Syndrome |
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Thoracic kyphoscoliosis, Frontal bossing, Cataract, Short stature, Down-sloping shoulders, Microg... |
OMIM:616200 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Recurrent respiratory infections, Hepatomegaly, Short stature, Ventricular septal defect, Postnat... |
OMIM:620210 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
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Pectus excavatum, Kyphosis, Thin upper lip vermilion |
OMIM:609384 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Coarse facial features, Severe short stature, Enlarged joints, Thoracolumbar sco... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Xvi |
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Microretrognathia, Multiple rib fractures, Wormian bones, Short stature, Rhizomelia, Beaded ribs,... |
OMIM:616229 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Short neck, Dolichocephaly, Kyphosis, Bell-shaped thorax, High palate, Scoliosis, Low-set ears |
ORPHA:178148 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Short stature, Limited wrist extension, Pectus excavatum, Kyphosis, Protruding ear, ... |
OMIM:108145 |
Nance-Horan Syndrome |
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Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Protruding ea... |
ORPHA:627 |
Rere-Related Neurodevelopmental Syndrome |
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Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Micrognathia, Post... |
ORPHA:494344 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Ventricular septal defect, Short stature, Cryptorchidism, Megarectum, Hypodontia, Pulmonic stenos... |
OMIM:301056 |
Fibrochondrogenesis 1 |
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Short neck, Megalocornea, Patent foramen ovale, Widely patent sagittal suture, Posterior vertebra... |
OMIM:228520 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Abnormal rib morphology, Short stature, Microcephaly |
ORPHA:2435 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Decreased ... |
OMIM:618265 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Xk Aprosencephaly Syndrome |
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Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth |
ORPHA:3469 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification |
OMIM:618824 |
Fountain Syndrome |
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Craniofacial hyperostosis, Round face, Coarse facial features, Short stature, Spina bifida, Pectu... |
ORPHA:3219 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Micro Syndrome |
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Low-set, posteriorly rotated ears, Cataract, Short stature, Micrognathia, Kyphosis, Microcornea, ... |
ORPHA:2510 |
Metatropic Dysplasia |
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Relatively short spine, Severe short stature, Enlarged joints, Kyphoscoliosis, Clavicular pseudar... |
OMIM:156530 |
Tetrasomy 9P |
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Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p... |
ORPHA:3310 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Cardiomyopathy, Sutural cataract, Scoliosis |
OMIM:201470 |
Progressive Non-Infectious Anterior Vertebral Fusion |
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Proximal radio-ulnar synostosis, Round face, Abnormal intervertebral disk morphology, Micrognathi... |
ORPHA:2062 |
Cerebrocostomandibular Syndrome |
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Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Atrial septal defect, Conduc... |
OMIM:117650 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Craniofacial hyperostosis, Abnormal pinna morphology, Short stature, Hyperlordosis, Abnormal rib ... |
ORPHA:3068 |
Knobloch Syndrome |
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Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Lumbar hyperlordosis, Short stature, Kyphosis, Sensorineural hearing impairment, Hip dislocation,... |
OMIM:616756 |
Congenital Rubella Syndrome |
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Hepatomegaly, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Patent du... |
ORPHA:290 |
Joubert Syndrome 15 |
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Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Median cleft lip, Short stature, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epi... |
OMIM:617088 |
Lambert Syndrome |
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Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... |
ORPHA:1296 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Encephalocraniocutaneous Lipomatosis |
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Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Coarctation of aorta, Subcort... |
ORPHA:2396 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pectus excava... |
ORPHA:329224 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Optic disc pallor, Short stature, Microcephaly, Hypoplasia of the corpus... |
OMIM:300887 |
15Q14 Microdeletion Syndrome |
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Long face, Ventricular septal defect, Short stature, Abnormality of the dentition, Kyphosis, Clef... |
ORPHA:261190 |
Chromosome 10Q26 Deletion Syndrome |
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Congenital hip dislocation, Micrognathia, Short neck, Protruding ear, High palate, Atrial septal ... |
OMIM:609625 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Fanconi Anemia, Complementation Group B |
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Ventricular septal defect, Aplastic anemia, Short neck, Esophageal atresia, Patent ductus arterio... |
OMIM:300514 |
Bethlem Myopathy 2 |
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Kyphosis, Scapular winging, Hip dislocation, Scoliosis |
OMIM:616471 |
Trisomy 20P |
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Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, D... |
ORPHA:261318 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Cerebral infarct, Optic atrophy, Focal T2 hyperintense thalamic lesion, Se... |
ORPHA:254881 |
Joubert Syndrome 9 |
|
Encephalocele, Hepatic fibrosis, Molar tooth sign on MRI, Scoliosis |
OMIM:612285 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis |
OMIM:300718 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Hepatomegaly, Rhizomelia, Short neck, Patent ductus arteriosus,... |
ORPHA:1842 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Pectus carinatum |
OMIM:618763 |
Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Brachycephaly, Narrow palat... |
OMIM:614222 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Atrial septal defec... |
ORPHA:521308 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormality of the dentition, Kyphosis, Pectus carinatum, Scoliosis, Dolichocephaly |
ORPHA:1548 |
Alazami Syndrome |
|
Postnatal growth retardation, Wide mouth, Short philtrum, Widely spaced teeth, Scoliosis, Low-set... |
ORPHA:319671 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Short stature, Cardiomegaly, Hypoplasia of ... |
OMIM:182250 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Short neck, Pectus excav... |
ORPHA:77301 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal ... |
OMIM:618494 |
Typical Nemaline Myopathy |
|
Narrow face, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Spinal rigidity, Pectus excavatum... |
ORPHA:171436 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Thin corpus callosum, Lateral ventricle dil... |
OMIM:608629 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defe... |
OMIM:614846 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Patent ductus arteriosus, Dysplasti... |
OMIM:612863 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Postnatal growth retardation, Short stature, Triangular face |
OMIM:619489 |
Bronchogenic Cyst |
|
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... |
ORPHA:2357 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Hemivertebrae, Brachycephaly, Protruding ear, Downturned cor... |
OMIM:156200 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Narrow palate, Cleft palate, High ... |
OMIM:615102 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux |
OMIM:619881 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Thin clavicles, Postnatal growth retardation, Thin ribs, Growth delay, Intrauterin... |
ORPHA:93324 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... |
OMIM:617744 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal parietal bone morphology, Short stature, Abnormal occipita... |
ORPHA:249 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Lateral cla... |
OMIM:615630 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Everted lower lip vermilion, Gastroesophageal reflux, Lo... |
ORPHA:228399 |
3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Short philtrum,... |
ORPHA:397695 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Ventricular septal defect, Short stature, Optic nerve hypoplasi... |
OMIM:615583 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stat... |
OMIM:115470 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Frontal bossing, Di... |
OMIM:200610 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Shor... |
OMIM:617022 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Scoliosis, Hip dislocation |
OMIM:300434 |
Gm1-Gangliosidosis, Type Iii |
|
Coarse facial features, Short stature, Kyphosis, Hypoplastic acetabulae, Platyspondyly, Scoliosis... |
OMIM:230650 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature |
OMIM:618453 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th... |
ORPHA:444013 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Parietal boss... |
OMIM:109400 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy, Hepatic fibrosis, Decreased liver function, Pulmonar... |
ORPHA:306550 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... |
OMIM:619194 |
Hurler-Scheie Syndrome |
|
Short stature, Corneal opacity, Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of t... |
OMIM:607015 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly, Mitral valve prolapse, Cherry red spo... |
ORPHA:309155 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Broad skull, Hydrocephalus, Abnormality of the vertebral column |
ORPHA:228123 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Mild pos... |
ORPHA:168549 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Abnormal rib morphology, ... |
ORPHA:2772 |
Even-Plus Syndrome |
|
Severe short stature, Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft v... |
OMIM:616854 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... |
OMIM:612938 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Coarse facial features, Kyphoscoliosis, Cardiomegaly, Protruding tongue, A... |
ORPHA:324410 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Knee flexion contracture, Downturned corners of mouth, ... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Atrial septal... |
ORPHA:353281 |
Mmep Syndrome |
|
Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Dandy-Walker malformation, Rhizomelia, Hamartoma of tongue, Patent ductus arterios... |
OMIM:616300 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Iris atrophy, Mixed hearing impairment, Dextrocardia, Micrognathia, Postnata... |
OMIM:620305 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductu... |
OMIM:606003 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Li... |
OMIM:300106 |
Sialidosis Type 2 |
|
Coarse facial features, Short stature, Corneal opacity, Kyphosis, Short thorax, Pectus carinatum,... |
ORPHA:87876 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Sec... |
OMIM:619951 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil... |
ORPHA:500150 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Micrognathia, Knee dislocation, Shoulder dislocation, High... |
ORPHA:536532 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... |
ORPHA:59315 |
Silver-Russell Syndrome 3 |
|
Frontal bossing, Short stature, Postnatal growth retardation, Antecubital pterygium, Low-set ears... |
OMIM:616489 |
Hypomelanosis Of Ito |
|
Coarse facial features, Cataract, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, ... |
OMIM:300337 |
Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, Scoliosis, Molar tooth sign on M... |
OMIM:611560 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Aplasia/Hypoplasia of the earlo... |
ORPHA:1555 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:609053 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Missing ribs, Micrognathia, Abnormal rib morphology, Oro... |
ORPHA:3301 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... |
ORPHA:60015 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lumbar ver... |
OMIM:253220 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Pectus c... |
OMIM:619472 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop... |
OMIM:613724 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Short stature, Abnormality of th... |
ORPHA:1596 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification, Dysphagia |
OMIM:618317 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Short stature, Cleft palate, Narrow mouth |
ORPHA:93946 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment |
ORPHA:1620 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Orofacial cleft, Vertebral segmentation defect, Abnormal sternum... |
ORPHA:2990 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Supr... |
OMIM:620185 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Cleft palate, Protruding ear, Pulmo... |
OMIM:619123 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Triangular face, Short stature, Rhizomelia, Micrognat... |
OMIM:613848 |
White Forelock With Malformations |
|
Atrial septal defect, Deep philtrum, Spina bifida occulta, Abnormal palate morphology |
ORPHA:2475 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Temple-Baraitser Syndrome |
|
Wide mouth, Downturned corners of mouth, Thick vermilion border, Gastroesophageal reflux, Pulmoni... |
OMIM:611816 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Coarse facial features, Ventricu... |
ORPHA:276432 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... |
ORPHA:90289 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Facial asymmetry, Short neck, Postnatal growth retardation, Brachycephaly, Thin ve... |
OMIM:614800 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Fraser Syndrome 1 |
|
Encephalocele, Subglottic stenosis, Laryngeal stenosis, Abnormal pinna morphology, Corneal opacit... |
OMIM:219000 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Deep philtrum, Growth delay, Thick vermilion border, Everted lower lip vermilion, Scoli... |
ORPHA:505652 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Irregular acetabular roof, Coarse facial features, Thickened aortic ... |
OMIM:619698 |
Pontocerebellar Hypoplasia, Type 17 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Hypoplasi... |
OMIM:619909 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... |
OMIM:601357 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Neutrophilia, Ab... |
ORPHA:79139 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Scoliosis, Narrow mout... |
OMIM:615381 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... |
OMIM:193700 |
Williams Syndrome |
|
Narrow face, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Abnormal form of the vertebral bo... |
ORPHA:904 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic val... |
OMIM:617660 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hepatomegaly, Ventricular septal defect,... |
OMIM:616651 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Short stature, Small abnormally formed scap... |
ORPHA:140 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Short stature, Kyphoscoliosis, Pectus excavat... |
OMIM:612513 |
Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Short stature, Protruding tongue, Complete atri... |
OMIM:190685 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coarse facial features, Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplas... |
OMIM:300232 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, D... |
OMIM:166220 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar glio... |
ORPHA:79243 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Zechi-Ceide Syndrome |
|
Cleft lip, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, Oligodontia, Thi... |
ORPHA:217017 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... |
OMIM:613795 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morphology, Corneal opac... |
ORPHA:2323 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Thin ribs, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Noonan Syndrome 11 |
|
Short stature, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:618499 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary ... |
ORPHA:75389 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Microcephaly, Situs inv... |
ORPHA:991 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Severe short stature, Carious teeth, Platyspondyly, Scoliosis, Thickene... |
OMIM:126550 |
Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Short stature, Thick lower lip vermilion, Wide mouth, Short philtrum, A... |
OMIM:616938 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... |
OMIM:143095 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, High palate, Short stature |
ORPHA:1035 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect, Growth delay, Short stature |
ORPHA:52056 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Micrognathia, Carious teeth, Postnatal growth retardation, Retrognathia, Growth de... |
OMIM:613026 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Macrocytic anemia, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor... |
ORPHA:1532 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation defect, High p... |
ORPHA:263508 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, High palate, Short ph... |
OMIM:609944 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay |
OMIM:300804 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Micrognathia, Postnatal growth retardation, Cleft palate, High palate, Short philt... |
ORPHA:96184 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroeso... |
ORPHA:567 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Craniosynostosis, Ectopia lentis, Pectus excavatum, Kyphosis, High, narrow pala... |
OMIM:616914 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Short stature, Cleft upper lip, Cleft palate, Thin vermilion border, S... |
OMIM:608572 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Lobulated tongue, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hearing impairment |
OMIM:618237 |
Cockayne Syndrome |
|
Lentiglobus, Abnormal dental morphology, Agenesis of permanent teeth, Abnormal cornea morphology,... |
ORPHA:191 |
Sialidosis Type 1 |
|
Frontal bossing, Coarse facial features, Cataract, Short stature, Corneal opacity, Kyphosis, Sens... |
ORPHA:812 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Ventricular se... |
OMIM:615948 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Microcephaly, Patent ductus arteriosus, High ... |
OMIM:618142 |
Hydranencephaly |
|
Abnormal corpus striatum morphology, Optic nerve hypoplasia, Abnormal internal carotid artery mor... |
ORPHA:2177 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220497 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Downturned c... |
OMIM:615009 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft l... |
OMIM:618348 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Short neck, Pectus excavatum, Hydrocephalus... |
OMIM:612582 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Knee flexion contra... |
OMIM:615290 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Atrial septal defect, Bifid uv... |
OMIM:601808 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Short neck, Abnormality of the dentition, Kyphosis, Growth delay, Downturned cor... |
ORPHA:238750 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cardiofaciocutaneous Syndrome |
|
Short neck, High palate, Biparietal narrowing, Atrial septal defect, Thickened helices, Long face... |
ORPHA:1340 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Cleft... |
OMIM:619895 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Scoliosis, Delayed puberty, Microdont... |
OMIM:619718 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Vertebral arch anomaly, High palate, Thin calvarium, Worm... |
ORPHA:85184 |
Congenital Myopathy 22A, Classic |
|
Frontal bossing, Thoracic scoliosis, Scapular winging, Dental crowding, Hip contracture, Spinal r... |
OMIM:620351 |
Zimmermann-Laband Syndrome 2 |
|
Coarse facial features, Short stature, Short neck, Kyphosis, Deep philtrum, Sensorineural hearing... |
OMIM:616455 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Microcephaly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology |
ORPHA:64754 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Frontal bossing, Coarse facial features, Ventricular septal defect, Short ... |
ORPHA:354 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Coarse facial features, Severe short stature, Abnormal heart valve mor... |
OMIM:309900 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Low-set ears, Dolichocephaly... |
OMIM:615433 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... |
OMIM:620184 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Abnormal palate morphology |
ORPHA:921 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Frontal bossing, Turricephaly, Plagiocep... |
OMIM:613603 |
Fg Syndrome Type 1 |
|
Sacral dimple, Short stature, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrot... |
ORPHA:93932 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Brachycephaly, Wide... |
OMIM:608776 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Sensorineural hearing im... |
OMIM:603116 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Narrow mouth, Brach... |
ORPHA:261349 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Abnormal pinna morphology, Short stature, Kyphoscoliosis, Short neck, Pect... |
OMIM:309583 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Pneumon... |
ORPHA:68 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp... |
OMIM:305100 |
2Q31.1 Microdeletion Syndrome |
|
Narrow face, Short neck, Micrognathia, Deep philtrum, Downturned corners of mouth, Vertebral segm... |
ORPHA:251014 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... |
OMIM:244460 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, S... |
ORPHA:280 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Sacral dimple, Posteriorly rotated ears, Cleft upper lip, Postnatal growth retar... |
OMIM:206920 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Short neck, Protruding ear, Pectus carinatum, Spin... |
OMIM:151100 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ... |
ORPHA:2759 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Sever... |
OMIM:230500 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Cataract |
ORPHA:1875 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Decreased response to growth hormone stimulation test, Ascending ao... |
OMIM:619503 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Subglottic stenosis, Thoracic kyphosis, Lumbar interpedicular narrowing, G... |
OMIM:271510 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus art... |
ORPHA:77298 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Saul-Wilson Syndrome |
|
Cataract, Short stature, Micrognathia, Pectus excavatum, Hypoplasia of the odontoid process, Sens... |
OMIM:618150 |
Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening... |
OMIM:271700 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal putamen morphology, Abnormal brainstem morpholo... |
ORPHA:88619 |
15Q24 Microdeletion Syndrome |
|
Long face, Short stature, Facial asymmetry, Abnormality of the dentition, Postnatal growth retard... |
ORPHA:94065 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Genu valgum, Downturned co... |
ORPHA:2983 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Pectus excavatum, Sensorineural hearing impairment, High palat... |
OMIM:620237 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria |
OMIM:617757 |
Mccune-Albright Syndrome |
|
Hearing impairment, Dental malocclusion, Abnormal facial skeleton morphology, Scoliosis, Facial a... |
ORPHA:562 |
Poland Syndrome |
|
Encephalocele, Dextrocardia, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosi... |
ORPHA:2911 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Micrognathia, Pectus excavatum, Postnatal growth retardation, Conical... |
OMIM:263750 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, High p... |
OMIM:620369 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
Neuroferritinopathy |
|
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... |
ORPHA:157846 |
Al-Gazali-Bakalinova Syndrome |
|
Short neck, Pectus excavatum, Pectus carinatum, Hypoplasia of the corpus callosum, Molar tooth si... |
OMIM:607131 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Cerebral calcification, Intestinal malrotation, Aqueductal stenosi... |
ORPHA:3035 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Absent o... |
ORPHA:66637 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... |
OMIM:259450 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Cerebellar vermis hypoplasia, Ventricular septal defect, Shor... |
ORPHA:2962 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Short stature, Absent septum pellucidum, Hyperlordos... |
OMIM:618870 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Round face, Coarse facial features, Short neck, Pectus excavatum, Anterior scalloping of vertebra... |
OMIM:611717 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Thick lowe... |
OMIM:618950 |
Mucopolysaccharidosis, Type Vi |
|
Pectus carinatum, Broad ribs, Anterior wedging of L1, Lumbar hyperlordosis, Short stature, Anteri... |
OMIM:253200 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:101075 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Hydrocephal... |
OMIM:218350 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased ner... |
ORPHA:485421 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... |
ORPHA:101028 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
Zimmermann-Laband Syndrome 3 |
|
Coarse facial features, Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bi... |
OMIM:618658 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protruding ear, Thick... |
OMIM:300966 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Microcephaly, Scoliosis, Atrial septal defect, Periventricular leukoma... |
ORPHA:357225 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Posteriorly rotated ears, Short stature, Postnatal growth retardation,... |
OMIM:620113 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Narrow face, Micrognathia, Brachycephaly, Protruding ear, High palate, Sho... |
OMIM:309500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Peripheral axonal neuropathy, Abnormal cortical gyration, Patent ductus arteriosus, Axonal loss, ... |
OMIM:616867 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Localized hypoplasia of denta... |
ORPHA:73223 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Short neck, Patent ductus arteriosus, Pleural effusion,... |
OMIM:615355 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Multiple joint dislocation, Pectus carinatum, Microcornea, High palate, Microdontia... |
ORPHA:536467 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Atrial ... |
OMIM:615582 |
Frontoocular Syndrome |
|
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect |
OMIM:605321 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasi... |
OMIM:604292 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Short stature, Cerebellar vermis hypoplasia, High palate, Hyp... |
OMIM:619185 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downturned corners of mouth, A... |
OMIM:618652 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Intrauterine growth ... |
ORPHA:1506 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Narrow face, Dental crowding, Brachycephaly, Pectus carinatum, High palate... |
ORPHA:3063 |
New-Onset Refractory Status Epilepticus |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Abnormal thalamic MRI signal inten... |
ORPHA:363558 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Cataract, Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Pos... |
OMIM:302960 |
Kagami-Ogata Syndrome |
|
Pursed lips, Frontal bossing, Kyphoscoliosis, Short neck, Micrognathia, Postnatal growth retardat... |
ORPHA:254519 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Hypointensity of cerebral white matter on MRI, Optic atrophy, Abnormal thalam... |
ORPHA:845 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Cataract, Posteriorly rotated ears, Short stature, Micrognathia... |
OMIM:300960 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... |
ORPHA:464738 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Short neck, Microcephaly, Anencephaly, Growth delay, High palate, ... |
ORPHA:96176 |
Filippi Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Thin vermilion border, S... |
OMIM:272440 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Patent ductus arteriosus, Cerebral atrophy, Coarctation of aorta, Bell-shaped t... |
OMIM:614857 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Intestinal malrotation, Hamartoma of ton... |
OMIM:263520 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Microce... |
OMIM:617397 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Dental malocclusion, Short stature |
OMIM:259730 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Thickened ribs, Splenomegaly, Recurrent upper respiratory tract infections, Ovoid t... |
OMIM:252900 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-l... |
OMIM:185070 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Hepatomegaly, Abnormal heart valv... |
ORPHA:93473 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Microtia, Widely sp... |
ORPHA:2728 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Recur... |
OMIM:613193 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Sacral dimple, Short stature, Micrognathia, Prominent crus of helix, Postnatal ... |
OMIM:619695 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Hepatomegaly, Cerebellar vermis hypoplasia, Optic atrophy, Pect... |
OMIM:619383 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Abnormal dental enamel morphology, Pectus excavatum, Cleft palate, Hypoplasia of... |
ORPHA:1812 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Pectus carinatum, Kyphosis, Hearing impairment |
ORPHA:319199 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Oligodontia, Spina bifida occulta, Iris coloboma, Short stature, Clef... |
OMIM:305600 |
Osteogenesis Imperfecta, Type Xviii |
|
Abnormality of the dentition, Micrognathia, Thin ribs, Biconcave vertebral bodies, Wormian bones,... |
OMIM:617952 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:213300 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Deep philtrum, Paten... |
ORPHA:163956 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Atrial septal defect, Thin upper lip vermilion, Prominent metopic ridge, Poster... |
OMIM:136140 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Aplasia/Hypoplasia of the cerebellum, Kyphoscoliosis, Hypoplasia ... |
ORPHA:397709 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Accessory oral f... |
ORPHA:434179 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Coarse facial features, Short stature, Kyphosis, Elbow fl... |
OMIM:618493 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Short stature, Downt... |
OMIM:617360 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects,... |
OMIM:620070 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Abnor... |
ORPHA:2308 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Hydrocephalus, Patent ductus arteriosus, Kyphosis, Aplasia/... |
ORPHA:1860 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Abnormal optic disc morphology, Thoracic k... |
ORPHA:508498 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Broad secondary alveolar ... |
ORPHA:3369 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Frontal bossing, Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal grow... |
OMIM:118650 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Caudal Duplication |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebr... |
ORPHA:1756 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Dental crowding, Micrognathia, Postnatal growth... |
ORPHA:813 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard palate, Recu... |
OMIM:619314 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ... |
OMIM:235510 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Cataract, Kyphosis, Sensorineural hearing impairment, Orofac... |
ORPHA:79107 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Situs inversus totalis, Narrow mouth, Mandibular aplasia, Micr... |
ORPHA:990 |
Noonan Syndrome 14 |
|
Scapular winging, Coarse facial features, Posteriorly rotated ears, Short stature, Short neck, Pe... |
OMIM:619745 |
Fibrochondrogenesis |
|
Round face, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Narrow mout... |
ORPHA:2021 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:474 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Bicuspid aortic valve, Mild postnatal growth retardation, Micrognathia, De... |
OMIM:150230 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thora... |
OMIM:619636 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Pectus excavatum, Complete atrioventricular canal defect, Kyphosis... |
ORPHA:476126 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Micrognathia, Lateral clavicle hook, Cleft upper lip, Disproportionate shor... |
OMIM:211350 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
Mucopolysaccharidosis-Plus Syndrome |
|
Cerebral calcification, Short neck, Pectus carinatum, Leukopenia, Macrovesicular hepatic steatosi... |
OMIM:617303 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of the... |
OMIM:612394 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Ventricular septal def... |
OMIM:615673 |
Giant Cell Arteritis |
|
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Gastrointestinal inf... |
ORPHA:397 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Round face, Kyphosis, Thin ribs, Platyspondyly, Decreased calvarial ossifica... |
OMIM:610915 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Tetralogy of Fallot, Cleft palate, Acute leukemia, ... |
ORPHA:3474 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Vertebral segmentation defect, High palate, ... |
ORPHA:453499 |
Sandhoff Disease |
|
Kyphosis, Hearing impairment |
ORPHA:796 |
Perlman Syndrome |
|
Distal ileal atresia, Pancreatic islet-cell hyperplasia, Interrupted aortic arch, Volvulus, Agene... |
OMIM:267000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Laryngeal stenosis, Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxa... |
ORPHA:93360 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:146510 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... |
OMIM:220500 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... |
OMIM:618205 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Facial asymmetry, Short neck, Sensorineural hearing impairment, Abnorma... |
OMIM:118100 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Sho... |
OMIM:609654 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, I... |
OMIM:610443 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Hypointensity of cerebral white matter on MRI, Abnormal brainstem MRI signal int... |
ORPHA:83597 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypopl... |
ORPHA:2318 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Short stature, Non-midline cleft lip, Cleft palate, Atrial septal defec... |
ORPHA:1915 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:101078 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short stature, Optic nerve hypoplasia, Short neck, Pectus excavatum, P... |
OMIM:617506 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ovale, Agenesis ... |
ORPHA:2745 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short stature, Paten... |
ORPHA:457193 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Spontaneous hemolytic ... |
ORPHA:168577 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Frontal bossing, Posteriorly rotated ears, Hyperlordosis, Kyphosis, High p... |
OMIM:617011 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
Tarp Syndrome |
|
Meckel diverticulum, Cerebellar vermis hypoplasia, Pectus excavatum, Hepatic failure, Subdural he... |
OMIM:311900 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Vertebral fusion, Scapular winging, ... |
OMIM:272460 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Coarse facial features, Cataract, Short stature, Hyperlordosis, Kyphosis, Sensorineural hearing i... |
ORPHA:3085 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Ruvalcaba Syndrome |
|
Short stature, Dental crowding, Kyphosis, Narrow chest, Scoliosis, Delayed puberty, Limited elbow... |
OMIM:180870 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductu... |
ORPHA:90308 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, High palate, Scoliosis, Intrauterine growth retardatio... |
OMIM:255200 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Pulmonic stenosi... |
OMIM:618223 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Splenomegaly, ... |
OMIM:251290 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, ... |
OMIM:206900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Megaloblastic anemia, Optic atrophy, Stroke, Atrial sep... |
ORPHA:49827 |
Radio-Renal Syndrome |
|
Severe short stature, Short neck, Micrognathia, High, narrow palate, Abnormality of the elbow, Ab... |
ORPHA:3015 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Short neck, Abnormal lung lobati... |
ORPHA:508488 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Abnor... |
ORPHA:1300 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Abnormal facial shape, Dolichocephaly |
OMIM:618512 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Ventricular septal defect, Short stature, Micrognathia, Cleft palate, G... |
OMIM:613309 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cataract, Posteriorly rotated ears, Short stature, Micrognathia, Short neck, Postnatal growth ret... |
OMIM:257300 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate, Broad alveolar ridges, Short stature |
OMIM:314320 |
Distal Deletion 10Q |
|
Scapular winging, Lumbar hyperlordosis, Short stature, Microcephaly, Pectus excavatum, Postnatal ... |
ORPHA:96148 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Short stature, Short neck, Micr... |
OMIM:617452 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Short stature, Short neck, Cleft upper lip, Hemivertebrae, Rib... |
ORPHA:1394 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he... |
OMIM:268310 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Recurrent respiratory infections, Short stature, Bronchiectasis |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Eiken Syndrome |
|
Short stature, Persistence of primary teeth, Thick lower lip vermilion, Flat acetabular roof, Eru... |
OMIM:600002 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Mola... |
OMIM:615665 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Short stature, Postnatal growth retardation, High, narrow ... |
OMIM:617694 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Postnatal growth retardatio... |
OMIM:300963 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short stature |
OMIM:113301 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Proportionate short stature, Patent ductus arteriosus, Aortic root aneurysm, Chia... |
ORPHA:404443 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Cataract, Rhizomelia, Aplastic clavicle, Micrognathia, Broad clavicles, Protruding t... |
ORPHA:50945 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Pulmonic stenosis, Scolio... |
OMIM:615279 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Abnormal facial shape, Abno... |
ORPHA:508533 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Microdontia, Hypoplasia of the maxilla, Cariou... |
OMIM:129900 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Symblepharon, Short neck, Abnormal rib morphology, Retrognathia, Spina... |
ORPHA:488434 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ... |
OMIM:614874 |
16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Abnormal heart morphology, Wide mouth, Thin vermilion border, Abnormal tricu... |
ORPHA:485405 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Kyphosis, High, narrow palate, Shoulder dislocation, Scoliosis, Umbilical hernia |
ORPHA:2181 |
Mend Syndrome |
|
Sacral dimple, Cataract, Short stature, Abnormal auditory evoked potentials, Micrognathia, Asymme... |
ORPHA:401973 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Intrauterine growth retardation, Hypoplastic facial bones, Short clavicles |
OMIM:619793 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Axenfel... |
OMIM:266270 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Short neck, Irregular vertebral endplates, High palate, Flar... |
OMIM:271640 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Short stature, Clef... |
ORPHA:261236 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... |
OMIM:174300 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Long face, Cataract, Delayed eruption... |
ORPHA:90321 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Subglottic stenosis, Laryngeal stenosis, Dental... |
ORPHA:2052 |
Marfan Syndrome |
|
Narrow face, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus c... |
ORPHA:558 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal... |
ORPHA:261330 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypo... |
OMIM:613001 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... |
ORPHA:513456 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malformation, Encephalomalacia, ... |
OMIM:615879 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly, Hypoplasia ... |
OMIM:618325 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Missing ribs, Dolic... |
OMIM:200980 |
Cartilage-Hair Hypoplasia |
|
Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Neutropenia, H... |
ORPHA:175 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Intr... |
OMIM:608747 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short stature, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vert... |
OMIM:618395 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Sacral dimple, Ventricular septal defect, Short stature, Microcephaly, Esopha... |
OMIM:301030 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Optic disc colo... |
OMIM:608091 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly... |
OMIM:619980 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... |
OMIM:612530 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern, Growth delay, Abnormal ce... |
ORPHA:411493 |
Noonan Syndrome 7 |
|
Short stature, Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Growth delay, Impair... |
OMIM:613706 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Secondary microcephaly, Cerebellar hy... |
OMIM:613730 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Abnormal thalamic MRI signal intensity, Ab... |
ORPHA:70595 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Growth delay, High palate, Short philtrum, Tetralogy o... |
ORPHA:3306 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:614114 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Long philtrum |
ORPHA:466926 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Intrauterine gr... |
OMIM:613398 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Growth delay, Pulmonary h... |
ORPHA:139466 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Anterio... |
OMIM:617159 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Gastroesophageal reflux, Left superior vena c... |
OMIM:611961 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Frontal bossing, Narrow joint spaces of the elbow, Dental crowding, Delayed closure of the anteri... |
ORPHA:96182 |
Trisomy 1Q |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Short thorax, Abnormal rib mo... |
ORPHA:261344 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Abnormality of the dentition, Recurrent pneumonia, Bronchiectas... |
OMIM:618282 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Craniosynostosis, Short neck, External ear malfo... |
ORPHA:254346 |
Monosomy 9P |
|
Trigonocephaly, Micrognathia, Short neck, Narrow mouth, Abnormality of the dentition, Abnormal ri... |
ORPHA:261112 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tented upper lip vermilion, Bicuspid aortic valve, Exaggerated cupid's bow, Dilation of Virchow-R... |
OMIM:619720 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short stature, Hip subluxation, Kyphosis, Bilateral camptodactyly, Prot... |
OMIM:619557 |
3Mc Syndrome |
|
Abnormal pinna morphology, Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Abnorma... |
ORPHA:293843 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ... |
OMIM:601005 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Midface retrusion, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Coarse facial ... |
OMIM:151210 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Papilledema, Facial palsy, Cerebral hemorrhage, Reduced circ... |
ORPHA:2495 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Downturned corners of mouth,... |
ORPHA:369891 |
Monosomy 22Q13.3 |
|
Sacral dimple, Dental crowding, Dental malocclusion, Umbilical hernia, Dolichocephaly, Malar flat... |
ORPHA:48652 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Severe short stature, Ventricular septal defect, Short stature, Narrow ... |
OMIM:270450 |
Achondroplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hearing impairment, Hip joint hypermobility, K... |
ORPHA:15 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Microdontia, Atrial septal defect, Short stature, Blue irides, Pulmonic st... |
OMIM:194050 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Holoprosencephaly |
|
Short neck, Abnormality of the spleen, Abnormal form of the vertebral bodies, Gastroesophageal re... |
ORPHA:2162 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Flexion contracture of finger, Exaggerated cupid's bow, Pectus excavatum, Postnatal growth retard... |
ORPHA:254528 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, Pectus excavatum, High pal... |
OMIM:614437 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Frontal bossing, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Short... |
OMIM:617925 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology,... |
ORPHA:163961 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Sacral dimple, Ventricular septal defect, Intestinal malrotation, Short s... |
OMIM:605039 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Short stature, Hamartoma of tongue, Cleft palate, Abnormal heart mo... |
ORPHA:2754 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Cerebral calcification, Short neck, Pectus carinatum, Leukopenia, Thoracic kyphosis, Atrial septa... |
ORPHA:505248 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... |
ORPHA:141127 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Short stature, Micrognathia, Short neck, Postnatal growth retardation,... |
ORPHA:3338 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Frontal bossing, Posteriorly rotated ears, Bicuspid aortic valve, Short stature, Short neck, Pect... |
OMIM:613563 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia |
OMIM:119580 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Pectus carinatum, Thoracic kyphosis, Genu varum, Cervical platysp... |
ORPHA:93314 |
Branchiooculofacial Syndrome |
|
Micrognathia, Short neck, Conductive hearing impairment, Hypoplastic superior helix, Iris colobom... |
OMIM:113620 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect,... |
ORPHA:2538 |
Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... |
OMIM:618354 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short stature, Short neck, Pectus excavatum, ... |
OMIM:300472 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Gastroesophageal reflux, Patent foramen ovale |
OMIM:617182 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Abnormal pupil morphology, De... |
ORPHA:534 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Kyphosis, Ankle clonus, Scoliosis, Hearing impairment |
OMIM:614409 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Delayed closure of ... |
OMIM:225410 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vert... |
ORPHA:73230 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Coarse facial features, Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Kypho... |
OMIM:617527 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Post... |
OMIM:610198 |
Aymé-Gripp Syndrome |
|
Brachycephaly, Oligodontia, Megalocornea, Prominent metopic ridge, Short stature, Pericardial eff... |
ORPHA:1272 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disp... |
OMIM:608681 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Ruvalcaba Syndrome |
|
Dental crowding, Kyphosis, Narrow mouth, Abnormality of the elbow, Pectus carinatum, Thin vermili... |
ORPHA:3121 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Patellar hypoplasia, Pe... |
OMIM:114290 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis |
OMIM:614017 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Hearing impair... |
ORPHA:2578 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Patent ductus arteriosu... |
ORPHA:96167 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Pectus carinatum, Broad ribs, Rhizomelia, Hypoplasia of the... |
ORPHA:239 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum |
ORPHA:1295 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Patent ductus arteriosus, Cle... |
OMIM:244300 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung age... |
OMIM:611812 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, High palate, Microdontia, Microretrognathia, Scapular winging, Short ... |
OMIM:278250 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Patent ductus arteriosus,... |
OMIM:616564 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Short... |
OMIM:605275 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic val... |
ORPHA:459061 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Ventricular septal defect, Short stature, Short neck, Microcephaly, Aplasia/Hypopl... |
ORPHA:505237 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Hypoplastic scapulae, Anterior concavity of ... |
OMIM:309350 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Panacinar emphysema, Bronchiectasis, Gastric varix, Chronic bronchitis |
OMIM:613490 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervica... |
OMIM:214300 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cataract, Underfolded helix, S... |
OMIM:268400 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Brachycephaly,... |
OMIM:601701 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar verm... |
OMIM:243910 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:252920 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Prominent occiput, High palate, Hypoplasia of the zygomatic bone, Low-... |
ORPHA:556955 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal dentate nucleus morphology, Abnormal pancreas morphology, Abnormal th... |
ORPHA:48818 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Delayed eruption of permanent teeth, Narrow mouth, Atrial septal defect, Microdontia, Open mouth |
OMIM:619356 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Neutro... |
OMIM:105650 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum, Atrophy/Degeneratio... |
OMIM:616277 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Pectus excavatum, Optic atrophy, Abnormal corpus callosum morpholog... |
ORPHA:2886 |
Prolidase Deficiency |
|
Micrognathia, Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal facial shape... |
ORPHA:742 |
Hurler Syndrome |
|
Short neck, Endocardial fibroelastosis, Microdontia, Short stature, Hypoplasia of the odontoid pr... |
OMIM:607014 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, Coarct... |
ORPHA:2008 |
Femoral-Facial Syndrome |
|
Limited elbow movement, Micrognathia, Hemivertebrae, Abnormal facial shape, Dysplastic sacrum, Sh... |
OMIM:134780 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Short statur... |
ORPHA:289157 |
Intellectual Disability-Strabismus Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Short neck, Microcephaly, P... |
ORPHA:363528 |
Esophageal Atresia |
|
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, Barrett eso... |
ORPHA:1199 |
X-Linked Hypophosphatemia |
|
Frontal bossing, Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral... |
ORPHA:89936 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Gas... |
OMIM:614961 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect, Narrow m... |
OMIM:245552 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Growth delay, Short stature |
ORPHA:1667 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Microcephaly, Pulmona... |
OMIM:300998 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Kyphosis, Sensorineural hearing impairment, Hip disl... |
ORPHA:464282 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Recurrent upper respiratory tr... |
ORPHA:3078 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Ever... |
OMIM:620075 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Micrognathia, Kyphosis, Sensorineu... |
ORPHA:521426 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi... |
ORPHA:2167 |
Aase-Smith Syndrome I |
|
Open mouth, Hydrocephalus, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Ventricular septal defect |
OMIM:616816 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Splenomegaly, Recurrent upper respiratory tract inf... |
OMIM:252930 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Microcephaly, Cerebral atrophy, Chiari type I malformation, Gastroesop... |
OMIM:617635 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Microlissencep... |
OMIM:210710 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, High palate, Thin ribs |
ORPHA:456328 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Leukemia, Poly... |
OMIM:602501 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Short stature, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormal... |
ORPHA:1052 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:620211 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Short stature, Scoliosis |
OMIM:618124 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:616481 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... |
OMIM:243150 |
Baralle-Macken Syndrome |
|
Kyphosis, Cataract, High, narrow palate |
OMIM:619255 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, M... |
OMIM:169400 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Short neck, Bell-shaped thorax, Disproportionate... |
ORPHA:1425 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Cleft palate |
OMIM:243440 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Intrauterine growth retardation, Iris coloboma, Hearing i... |
ORPHA:195 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Corneal opacity, Postnatal growth retardation, Hip dislocation, Protruding ear, D... |
OMIM:616603 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic scapulae, Long clavicles, Distal symphalangism, Postnatal growth retardation, Thin cl... |
OMIM:210720 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short stature, Hyperlordosis, Mitral valve prolapse, Pectus carinatum, Gastroesophageal reflux, H... |
OMIM:300986 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, ... |
OMIM:270400 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Short philtrum... |
OMIM:619143 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Poorly ossified vertebrae, ... |
OMIM:619135 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Abnormal shoulder morphology, Atrial septal ... |
OMIM:274000 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Larsen Syndrome |
|
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Short stature, Pectus excavatum, ... |
OMIM:150250 |
Juberg-Hayward Syndrome |
|
Severe short stature, Abnormality of the elbow, Abnormal rib morphology, Orofacial cleft, Radioul... |
ORPHA:2319 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pectus carinatum, P... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pectus carinatum, P... |
ORPHA:363958 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Down-sloping shoulders, Camptodactyly of finger, Short neck, Open bite, Kyphosis, ... |
ORPHA:85293 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thick upper lip vermilion |
OMIM:611087 |
Aspergillosis |
|
Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, H... |
ORPHA:1163 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Aortic root aneurysm, Scoliosis, A... |
OMIM:301039 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium, Triangular face |
ORPHA:2771 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Short stature, Microcephaly, Gastroesophageal reflux, Hypoplastic left hea... |
OMIM:619721 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterine growth r... |
ORPHA:60041 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub... |
ORPHA:457279 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Pe... |
OMIM:618161 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Short stature, Non-midline cleft lip, Cle... |
ORPHA:1770 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Hereditary Acrokeratotic Poikiloderma |
|
Turricephaly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnormalit... |
ORPHA:2907 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Dysphagia, Cardiomyopathy, High palate, ... |
OMIM:616866 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Cleft palate,... |
OMIM:612562 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short stature, Patent ductus arteriosus, Cleft ... |
ORPHA:2473 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hypertrophic cardiomyopathy, Scoliosis |
OMIM:618234 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... |
OMIM:613808 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Optic atrophy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:79279 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Aplastic clavicle... |
ORPHA:2658 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Pectus excavatum, Pylo... |
OMIM:147791 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyphoscoliosis, K... |
ORPHA:457359 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Abnormality of the vertebral colum... |
OMIM:276950 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Short neck, Micrognathia, Post... |
ORPHA:1655 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp... |
OMIM:300000 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Short neck, Atrial septal defect, Broad ribs, Agenesis of corpus callo... |
OMIM:229850 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Short stature, Accessory oral frenulum, Hypoplasia of teeth, Restrictive cardiomyopathy, Patent f... |
ORPHA:88630 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Biparietal narrowi... |
ORPHA:818 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Weaver Syndrome |
|
Mandibular prognathia, Round face, Flat occiput, Kyphosis, Retrognathia, Joint contracture of the... |
OMIM:277590 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Short stature,... |
OMIM:145420 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Thoracic scoliosis, Cerebellar vermis hypoplasia, Ventricular septal defect, Cl... |
ORPHA:1692 |
Al-Raqad Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Narrow mouth |
OMIM:616459 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... |
OMIM:613610 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Optic disc pallor, Hepatomegaly, Prolonged neonatal jaundice, Molar toot... |
OMIM:612291 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs, Hypoplasia o... |
OMIM:177170 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Mitral valve prolapse, High palate, Narrow mouth, Patent foramen ovale, Long phi... |
OMIM:615539 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Frontal bossing, Short stature, Micrognathia, Broad clavicles, Abnormality... |
OMIM:151050 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Corneal ulcerat... |
OMIM:153400 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Esophageal varix, Truncus arteriosus |
OMIM:616589 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, High ... |
OMIM:619542 |
Srd5A3-Cdg |
|
Cataract, Kyphosis, Abnormal sacrum morphology, Oligodontia, Abnormal facial shape, Hearing impai... |
ORPHA:324737 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Cleft palate, Hypoplastic... |
ORPHA:2347 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Patent ductus arteriosus, Rectal... |
ORPHA:79076 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel... |
OMIM:193500 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, M... |
OMIM:603467 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, C... |
OMIM:620024 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia... |
ORPHA:2092 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Narrow chest, Shor... |
OMIM:617746 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Abnormal rib morphology, Abnor... |
ORPHA:2519 |
Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Scoliosis, Abnormal facial shape |
ORPHA:79327 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Patent ductus ... |
ORPHA:1517 |
Fucosidosis |
|
Coarse facial features, Corneal opacity, Cardiomegaly, Abnormality of the dentition, Kyphosis, Br... |
ORPHA:349 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Turricephaly, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short n... |
OMIM:200600 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Short stature, Cleft palate, Orofacial cleft, Short philtrum, Holopro... |
ORPHA:280200 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Coarse facial features, Cardiomegaly, Pectus excavatum, Dolichocephaly, Thin ribs, Lumbar hemiver... |
ORPHA:2463 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... |
ORPHA:2328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Dental crowding, Micrognathia, Kyphosis, Plagiocephaly, High palate, Thick vermi... |
OMIM:619005 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Cerebral atrophy, Anemia, Gastroesophageal reflux, ... |
OMIM:230900 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Microcephaly, Patent ductus arte... |
ORPHA:452 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Cataract, Pectus excava... |
ORPHA:3042 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Abnormal calcification of t... |
OMIM:271665 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Short neck, Secondary ... |
OMIM:620073 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Thick ... |
OMIM:618027 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Atrial septal defect, Intrau... |
OMIM:620327 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Microcephaly, Patent duc... |
ORPHA:2637 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Dysphagi... |
OMIM:207950 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, Widely spaced... |
ORPHA:309282 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
11 pairs of ribs, Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Short neck, Hyd... |
OMIM:245600 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Dental crowding, Cryptorchidism, Pierre-Robin sequence, Cleft palate, ... |
OMIM:617201 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Cleft palate, Growth delay, Thick vermilion... |
ORPHA:447980 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... |
OMIM:244400 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Open mouth, Tented upper lip vermilion, Wide mouth |
ORPHA:500533 |
Thoracolaryngopelvic Dysplasia |
|
Laryngeal stenosis, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral en... |
OMIM:187760 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Patent foramen ovale, Smooth philtrum, Long philtrum |
OMIM:618821 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Protruding ear, High palate, Atrial septal defect, Abnormal dental pulp ... |
ORPHA:363700 |
Kbg Syndrome |
|
Vertebral fusion, Round face, Tented upper lip vermilion, Posteriorly rotated ears, Short stature... |
OMIM:148050 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu... |
OMIM:600460 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Wide m... |
OMIM:617450 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary ... |
OMIM:614866 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Microcephaly, Postnatal growth retardation, Patent duc... |
ORPHA:1465 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Splenomegaly |
OMIM:617767 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Optic ... |
ORPHA:99742 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:99014 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Short stature, Wide mouth, Long philtrum, Atrial septal defect,... |
ORPHA:1292 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... |
OMIM:620183 |
Semilobar Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... |
ORPHA:220386 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis, Hearing impairment |
OMIM:610743 |
Alobar Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... |
ORPHA:93924 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral seg... |
ORPHA:1836 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase ... |
OMIM:608779 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Smooth tongue, Pursed lips, ... |
OMIM:601559 |
Dominant Beta-Thalassemia |
|
Frontal bossing, Malar prominence, Abnormality of the dentition, Dilated cardiomyopathy, Genu val... |
ORPHA:231226 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Round face, Wide cranial sutures, Short stature, Rhizomelia, Protrusio ac... |
OMIM:610682 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Short stat... |
OMIM:300707 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera... |
ORPHA:261494 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left ... |
OMIM:619562 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P... |
ORPHA:93351 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibr... |
OMIM:610688 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Portal fibrosis, Anemia |
OMIM:619113 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ch... |
ORPHA:2331 |
Frontofacionasal Dysplasia |
|
Cataract, Cleft upper lip, Brachycephaly, Orofacial cleft, Microcornea, Bifid uvula, Midface retr... |
OMIM:229400 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Brachycephaly, Short philtrum, High palate, Microdontia, Atrial septal defect, Spi... |
OMIM:135900 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, ... |
OMIM:619179 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Round face, Spinal rigidity, Kyphosis, Hip dislocation, Protruding ear, Increased laxity of ankle... |
OMIM:254090 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se... |
OMIM:117550 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Short stature, Spina bif... |
ORPHA:84 |
Osteogenesis Imperfecta, Type Xv |
|
Schizencephaly, Short stature, Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar hypop... |
OMIM:615220 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Secundum atrial septal defect, Postnatal growth retardation, High palat... |
OMIM:620242 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Patent ductus arteriosu... |
OMIM:158170 |
Jaberi-Elahi Syndrome |
|
Cataract, Kyphosis, Pectus carinatum, Protruding ear, Scoliosis, Low-set ears, Triangular mouth |
OMIM:617988 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Abnormal form of the vertebral bodies, A... |
ORPHA:581 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Esophageal atresia, Deep philtrum, Cleft palate, Atrial... |
OMIM:610536 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pectus carinatum, Leukopenia, High palate, Hypoplasia of the thymu... |
OMIM:612541 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Sacral dimple, Flat occiput, Brachycephaly, Exencephaly |
ORPHA:2211 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Witteveen-Kolk Syndrome |
|
Narrow face, Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, Short philtrum, H... |
OMIM:613406 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta, Stillbirth, Short ribs, Narrow chest |
OMIM:215045 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
Zaki Syndrome |
|
Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Microcephal... |
OMIM:619648 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... |
OMIM:300967 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Patent ductus arteriosus, High palate, Atrial septal defect, Intrauterine growth r... |
OMIM:618005 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Scoliosis, Hypop... |
OMIM:609128 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Microcephaly, Hep... |
OMIM:208085 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Posteriorly rotated ears, Proboscis, Craniosynostosis, Postnatal ... |
OMIM:605627 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphosc... |
ORPHA:230851 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Sacral dimple, Short stature, Microcephaly, Splenomegaly, Patent ductus arterio... |
ORPHA:251066 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, Pineal cyst, Abnormal optic d... |
OMIM:617516 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Downturned corners o... |
ORPHA:96147 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Ventricular septal defect, Dental cr... |
ORPHA:79329 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Sacral dimple, Short stature, Abnormal cortical gyration, Paten... |
OMIM:300968 |
Proteus Syndrome |
|
Open mouth, Venous malformation |
OMIM:176920 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Proportionate short stature, Patent d... |
ORPHA:488618 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Cerebral white matter hypoplasia, High, narrow palate, Cleft palate, Chi... |
ORPHA:436003 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Dental crowding, Cleft upper lip, Postnatal growth retardation, Cleft ... |
OMIM:257920 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent... |
OMIM:610759 |
Ulbright-Hodes Syndrome |
|
Abnormal pinna morphology, Short neck, Micrognathia, Postnatal growth retardation, Narrow mouth, ... |
ORPHA:3404 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Absent brainstem auditory responses, Cardiomegaly, Optic atroph... |
ORPHA:79330 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Facial palsy, Fused cervical ver... |
OMIM:607323 |
White-Sutton Syndrome |
|
Short stature, Optic nerve hypoplasia, Short neck, Microcephaly, Patent ductus arteriosus, Cleft ... |
OMIM:616364 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum |
OMIM:614898 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Growth dela... |
OMIM:619121 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Postnatal growth retardation, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
Alzahrani-Kuwahara Syndrome |
|
Frontal bossing, Cataract, Posteriorly rotated ears, Ventricular septal defect, Coronary sinus en... |
OMIM:619268 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Abnormal lung lobation, High palate, Gastroesophageal reflux, Atrial septa... |
OMIM:607872 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Partial agenesis of the c... |
OMIM:619480 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, High palate, Hypoplasia of the zygo... |
ORPHA:989 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Wi... |
OMIM:614207 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Hypoplasia of the corpus callosum |
OMIM:617761 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Postnatal growth retardation, P... |
OMIM:605130 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Conductive... |
OMIM:218600 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Narrow chest, Atrial septal defect, Conduct... |
OMIM:304120 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Cleft palate, Anterior... |
OMIM:309801 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Abnormal brainstem morphology, Abnormal basal ganglia morpho... |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydr... |
OMIM:619512 |
Dysosteosclerosis |
|
Cerebral calcification, Ventricular septal defect, Short stature, Optic atrophy, Hypoplastic vert... |
ORPHA:1782 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Umbilical hernia, Patent foramen o... |
OMIM:616028 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:616730 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... |
ORPHA:217093 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondy... |
OMIM:113500 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor |
OMIM:617121 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bodies, Sho... |
OMIM:244450 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Postnatal growth retardation, Abnormal ear... |
ORPHA:96191 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Tented upper lip vermilion |
ORPHA:896 |
Noonan Syndrome 13 |
|
Mitral valve prolapse, Wide mouth, High palate, Widely spaced teeth, Gastroesophageal reflux, Lon... |
OMIM:619087 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Short stature, Complete atrioventricular canal defect, ... |
OMIM:617063 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Microcephaly, Simplif... |
OMIM:616777 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... |
OMIM:614034 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Growth delay, Prominent occiput, Microtia, Hypoplasia of the zy... |
OMIM:618500 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Butterfly vertebral arch, Hepatic failu... |
OMIM:118450 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, High palate, Atrial septal def... |
OMIM:268300 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... |
OMIM:610978 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Microcephaly, High, narrow palate, Patent ductus arteri... |
OMIM:616368 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, ... |
OMIM:617895 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... |
OMIM:614833 |
Isolated Exencephaly |
|
Low-set ears, Abnormal calvaria morphology, Abnormal facial skeleton morphology, Hypoplasia of th... |
ORPHA:563612 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Widely spaced teeth, Abnormal facial shape, Iris coloboma, Short stature, Cleft s... |
ORPHA:268261 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Short stature, Patent ductus arteriosus, Gastroesophageal reflux, Widely spaced teeth, Narrow mou... |
ORPHA:261279 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ventricular septal defect, Microcephaly, Pectus excavatum, Kyphosis, Patent du... |
ORPHA:464311 |
Noonan Syndrome 5 |
|
Short stature, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hyper... |
OMIM:611553 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Ventricular septal defect, Growth delay, Hypothalamic hamartoma, Thin c... |
OMIM:619908 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
Keutel Syndrome |
|
Recurrent respiratory infections, Short stature, Ventricular septal defect, Pulmonary artery sten... |
ORPHA:85202 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di... |
ORPHA:85194 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphan... |
OMIM:235255 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Growth delay, High palate, Widely spaced t... |
OMIM:619762 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:98855 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatic steatosis, Hepatomegaly, Ventricular septal d... |
OMIM:619418 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hemi... |
ORPHA:3412 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Hypoplastic right heart, Kyphoscoliosis, Hip dislocation, Retrognathia, Protruding ear,... |
OMIM:617403 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Intestinal malrotation, Recurren... |
ORPHA:79324 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase, Microcephaly |
OMIM:615160 |
Beta-Thalassemia Major |
|
Frontal bossing, Malar prominence, Abnormality of the dentition, Dilated cardiomyopathy, Genu val... |
ORPHA:231214 |
Roberts Syndrome |
|
Cataract, Craniosynostosis, Short neck, External ear malformation, Micrognathia, Postnatal growth... |
ORPHA:3103 |
Orofaciodigital Syndrome Type 1 |
|
Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Mi... |
ORPHA:2750 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Frontal bossing, Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, ... |
OMIM:618019 |
Alg9-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Villous atrophy, Ventricular septal defect, Rhizomelia, Short n... |
ORPHA:79328 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Cleft palate, Gastroesophag... |
OMIM:617164 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter... |
OMIM:100300 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... |
ORPHA:98863 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Patent ductus arteriosus, Cleft palate, Thin vermilion border, High palate, Gastro... |
OMIM:614080 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Hepatic fibrosis, Agenesis of corpus callosum,... |
OMIM:311200 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pectus carinatum, Atrial septal defect, Abnormal vertebral morphology, Agenesis of pineal gland, ... |
ORPHA:536471 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Absent septum pellucidum, Short neck, Microcephaly, Microvesicular hepatic steatosi... |
OMIM:300868 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, S... |
OMIM:602782 |
Cockayne Syndrome Type 3 |
|
Cataract, Mild postnatal growth retardation, Carious teeth, Kyphosis, Microcornea, Cardiomyopathy... |
ORPHA:90324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Craniofacial osteosclerosis, Pect... |
OMIM:618476 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Frontal bossing, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial ... |
ORPHA:1328 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... |
ORPHA:1900 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Brachycephaly, High palate, Short... |
OMIM:619244 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:98853 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Hepatomegaly, Cerebral calcification, Microcephaly, Intrahepa... |
ORPHA:46059 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... |
ORPHA:217085 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Narrow chest, Conductive hearing impairment, Patent foramen ovale, Prom... |
ORPHA:576 |
Leptin Receptor Deficiency |
|
Short stature, Decreased response to growth hormone stimulation test, Recurrent upper respiratory... |
OMIM:614963 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... |
ORPHA:2671 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Meningocele, Hypoplasia of the olfactory bulb, Retr... |
ORPHA:1827 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Corneal opacity, Missing ribs, External ear malformation, Calvarial s... |
ORPHA:1647 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Short philtru... |
ORPHA:798 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Short stature, Prominent crus of helix, Situs inversus totalis, Narrow mou... |
ORPHA:1449 |
Hypophosphatasia |
|
Short stature, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly, Patent duct... |
OMIM:618454 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Pectus excavatum, Hydrocephalus, Hypopla... |
ORPHA:457284 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Dilated cardiomyopathy, Left ventricular noncompaction, Secondar... |
OMIM:619167 |
Costello Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Short stature, Short neck, Pyloric stenosis, Hydr... |
OMIM:218040 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Hepatomegaly, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short stat... |
OMIM:252940 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short stature, Elevated c... |
OMIM:614921 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Pectus excavatum, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, High ... |
OMIM:618162 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... |
OMIM:619575 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Abnormality of the d... |
ORPHA:3071 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis |
OMIM:606612 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia, Short stature, Micro... |
ORPHA:464306 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Cryptorchidism, Growth delay, Thi... |
ORPHA:3255 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Thin ribs, Platyspondyly, Intrauterin... |
OMIM:300863 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Pneumonia, Facial palsy, Respiratory tract infection, ... |
ORPHA:79138 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... |
ORPHA:231160 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Short stature, Persistence of primary teeth, Micrognathia, Pectus excavatum, ... |
ORPHA:2785 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, High pal... |
ORPHA:2720 |
Lymphatic Malformation 6 |
|
Short stature, Pectus excavatum, Splenomegaly, Pleural effusion, Varicose veins, Gastroesophageal... |
OMIM:616843 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Scoliosis |
OMIM:618484 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Short stature, Abnormal midbrain morphology, Decreased response to... |
ORPHA:293987 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent p... |
OMIM:613177 |
Peters Plus Syndrome |
|
Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Microcornea, Widely spaced tee... |
ORPHA:709 |
Trisomy 8Q |
|
Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... |
ORPHA:1752 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Short neck, Pectus exc... |
ORPHA:373 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Short stature, Short neck, Secundum atrial septal defect, Microceph... |
OMIM:615802 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:617435 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Secundum atrial septal defect, Wide mouth, Growth delay, Median... |
OMIM:619758 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Proportionate short stature, Microcepha... |
OMIM:613457 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus,... |
OMIM:612289 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Gonadotropin deficiency, Holoprosencephaly, Atrial septal ... |
ORPHA:672 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small pituitary gland, Narrow ... |
OMIM:619479 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Hig... |
OMIM:208150 |
Kleefstra Syndrome 1 |
|
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, C... |
OMIM:610253 |
Yunis-Varon Syndrome |
|
Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea,... |
OMIM:216340 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity |
OMIM:615084 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Mitral valve calcification, Short stature, Micrognathia, Pectus excavatum, Postn... |
OMIM:619127 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... |
ORPHA:529808 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Short stature, Kyphoscoliosis, Delayed clo... |
ORPHA:2834 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Pectus excavatum, Pat... |
OMIM:609942 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Short neck, Brachycephaly, Downturned corners of mou... |
OMIM:264090 |
Marinesco-Sjogren Syndrome |
|
Short stature, Kyphosis, Developmental cataract, Scoliosis, Cubitus valgus |
OMIM:248800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Microcephaly, Recurre... |
ORPHA:209905 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Pectus excavatum, High, narrow palate, Patent ductus arteriosus, Abnormal lun... |
ORPHA:369837 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, ... |
OMIM:615633 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Hartsfield Syndrome |
|
Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft palate, Grow... |
OMIM:615465 |
Kabuki Syndrome 1 |
|
High palate, Atrial septal defect, Recurrent aspiration pneumonia, Abnormal vertebral morphology,... |
OMIM:147920 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... |
ORPHA:98755 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Gastroesophageal reflux, Atrial septal defect, Recurrent... |
ORPHA:280633 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... |
OMIM:617300 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short neck, Microvesicular he... |
OMIM:300855 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, ... |
ORPHA:2481 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Growth delay |
OMIM:615272 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short... |
OMIM:620076 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Ventricular septal defect, Prot... |
OMIM:214100 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Partial anomalous pulmonary... |
OMIM:301044 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Frontal bossing, Coarse facial features, Abnormality of the den... |
ORPHA:963 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Hepatic steatosis, ... |
ORPHA:1606 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Inc... |
ORPHA:268810 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pne... |
OMIM:607143 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Ventricular septal defect, Short stature, Short neck, Micr... |
OMIM:178110 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Dysphagia, Facial diplegia, Thoracic kyphosis, Gastroesop... |
ORPHA:70 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal cerebral vascular morphology, Microcephaly, Cleft palate, Holoprosencephaly, Abnormality... |
ORPHA:2165 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Frontal bossing, Coarse facial features, Abnormality of the den... |
ORPHA:314769 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platelet ... |
OMIM:222470 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Microcephaly, Cleft palate, High palate, Cerebellar hypoplasia, Scolios... |
OMIM:616038 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly... |
ORPHA:667 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow palate, Dyspha... |
OMIM:619312 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Macroglossia, Scoliosis |
OMIM:607155 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Develop... |
ORPHA:93325 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
Alstrom Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Dilated cardiomyopathy, Gingivitis, Hypero... |
OMIM:203800 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Kyphoscoliosis, Cupped ribs, Degeneration of anterior hor... |
ORPHA:1145 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Celiac disease, Dysplastic corpus callosum, Rib ... |
ORPHA:544488 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Short stature, Microce... |
OMIM:619869 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Micrognathia, Postnatal growth retardation, Contracture of the distal interphalan... |
ORPHA:83617 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Cerebellar vermis hypoplasia, Short stature, Mic... |
OMIM:616975 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, High pal... |
ORPHA:124 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
Sirenomelia |
|
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia |
ORPHA:3169 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Op... |
OMIM:620025 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Myocarditis, Disproportionate short stature, Abnormal rib morphology... |
ORPHA:93317 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Pectus excavatum, Splenomegaly, Patent duc... |
OMIM:618268 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation... |
ORPHA:177907 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate... |
OMIM:619103 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Thin vermilion border, Smooth philtrum |
OMIM:618109 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Craniosynostosis, Kyphosis, Co... |
OMIM:618050 |
Vici Syndrome |
|
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,... |
OMIM:242840 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Peripheral axonal neuropathy, Hype... |
ORPHA:2822 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Short stature, Reduced cerebral white matter volume, High, narr... |
OMIM:618076 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Cholelithiasis, Pericardial effusion, Normochromic anemia... |
OMIM:618775 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportiona... |
OMIM:616482 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Wide mouth, Growth d... |
ORPHA:217346 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Hyperlordosis, Thoracic platy... |
ORPHA:457395 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,... |
ORPHA:1051 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Pulmonic stenosis, Umbilical her... |
OMIM:618914 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Short stature, Microcephaly, Submucous cleft hard palate, Cerebral atrophy, A... |
OMIM:618891 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Abnormality ... |
ORPHA:3003 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Short stature, Dolichocephaly, Carious teeth, Kyphosis, Genu valgum, Do... |
OMIM:176270 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Partial agenesis of the corpus callosum, Aplas... |
OMIM:222448 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Shor... |
OMIM:618460 |
Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Malabsorption, Microcephaly, Pyloric sten... |
ORPHA:912 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... |
ORPHA:881 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular ca... |
OMIM:620066 |
C Syndrome |
|
Fused sternal ossification centers, Hepatomegaly, Ventricular septal defect, Short stature, Micro... |
OMIM:211750 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Patent ductus arteriosus, Undulate ribs, Splenic cyst, Thin ribs, St... |
OMIM:618188 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Abnormal mitral va... |
ORPHA:1969 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Dental crowding, Short stature, Abnormality of the dentition, Gingival... |
ORPHA:769 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity |
ORPHA:352447 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Cryptorchidism, Short stature, Abnormal stomach morphology |
ORPHA:281090 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary... |
ORPHA:54595 |
Aspartylglucosaminuria |
|
Coarse facial features, Cataract, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick low... |
OMIM:208400 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Knee flexion contracture, Dolichocephaly, Absent uvula |
OMIM:619708 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Kyphoscoliosis, High, narrow palate, Pa... |
ORPHA:466791 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, Gastr... |
OMIM:619229 |
Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Turricephaly, Spina bifida, Short neck, Microcephaly, Hydrocephalus, Brachycephaly... |
OMIM:613776 |
Atypical Rett Syndrome |
|
Growth delay, Kyphosis, Scoliosis |
ORPHA:3095 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Pancreatic fibrosis, Lateral clavicle hook, Thoracic dy... |
OMIM:615503 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... |
ORPHA:391487 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Short stature, Gastroesophageal reflux, Pulmonary hypoplasia, Long phi... |
ORPHA:85201 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Port... |
OMIM:620005 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Bifid ... |
ORPHA:268249 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Pectus carinatum |
ORPHA:500180 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricula... |
OMIM:608670 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... |
OMIM:309000 |
Trichothiodystrophy |
|
Periventricular leukomalacia, Ventricular septal defect, Cerebral dysmyelination, Microcephaly, R... |
ORPHA:33364 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,... |
OMIM:609616 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Large basal gan... |
ORPHA:261537 |
Kindler Epidermolysis Bullosa |
|
Laryngeal stenosis, Turricephaly, Corneal opacity, Abnormal dental enamel morphology, Premature l... |
ORPHA:2908 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... |
OMIM:619476 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... |
OMIM:613404 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Short stature, Muscular ventricular septal defect, Hypoplastic aortic ... |
OMIM:157800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Coarse facial features, Long clavicles, Wormian bones, Short neck, Postn... |
OMIM:269150 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Short stature, Spina bifida, Pectus ex... |
OMIM:161200 |
Restrictive Dermopathy 1 |
|
Kyphoscoliosis, Thin clavicles, Patent ductus arteriosus, Submucous cleft hard palate, Hydropic p... |
OMIM:275210 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Meningocele, Short stature |
ORPHA:2031 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum |
OMIM:618665 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Ventricular septal defect, Corneal opacity, Probosci... |
ORPHA:141099 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Scoliosis, Low-set ears, Abnormal facial shape, Midface retrusion |
ORPHA:420794 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Abnormal vena cava morphology, Intraute... |
ORPHA:166035 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia, Growth delay, Short stature |
ORPHA:93947 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... |
OMIM:619488 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Large basal gan... |
ORPHA:261552 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening |
ORPHA:96190 |
Lathosterolosis |
|
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... |
OMIM:607330 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Deep philtrum, Pierre-Robin se... |
OMIM:617137 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormal lung morphology, Abnormality of the gastrointestinal tract |
ORPHA:33276 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Iris atrophy, Cataract, Ventricular septal defect, Short stature, Kyphoscoli... |
OMIM:259770 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Short stature, Kyphosis, Xerostomia, Gastroesophageal reflux, S... |
ORPHA:398069 |
Pseudoaminopterin Syndrome |
|
Short stature, Pectus excavatum, Asplenia, Hydrocephalus, Sacrococcygeal pilonidal abnormality, P... |
ORPHA:221120 |
Occipital Horn Syndrome |
|
Narrow face, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, Ca... |
OMIM:304150 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short stature, Kyphosis, Sensorineural hearing impairment, Premature loss of... |
OMIM:239000 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate... |
ORPHA:137675 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Short ... |
OMIM:122470 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis, Coarse facial features, Widely spaced teeth |
OMIM:300942 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Proteus Syndrome |
|
Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of the wrist, Long face... |
ORPHA:744 |
Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the scapulae, Cardiomegaly, High, narrow palate, Glossoptosis, Atrial septa... |
ORPHA:3472 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Short stature, Absent septum... |
ORPHA:438213 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Short stature |
OMIM:619115 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Brachycephaly, Narrow chest, Conductive hearing impairment, Abnormal facial ... |
ORPHA:95699 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... |
ORPHA:227990 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Short stature, Microcephaly, Aqueductal stenosi... |
OMIM:154400 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Scoliosis, Atrial septal defect, Primary microce... |
ORPHA:457351 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroceph... |
ORPHA:261337 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Short stature, Pectus e... |
OMIM:235730 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thin upper lip vermilion, Dental crowding, Short stature, Postnatal growth retardation, Thick low... |
ORPHA:261323 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Thoracic scoliosis, Short stature, Aplasia of t... |
OMIM:620186 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Secundum atrial septal defec... |
OMIM:609069 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Foix-Alajouanine Syndrome |
|
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... |
ORPHA:227982 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Megalencephaly, Lipomyelome... |
OMIM:601707 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Short stature, Scoliosis, Hearing impairment |
ORPHA:702 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation... |
OMIM:615873 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Abnormality of the dentition, Pierre-Robin sequence, Thick lo... |
OMIM:617557 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Microdontia, Patent ductus arteriosus, Hypodontia |
OMIM:602482 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Pectus excavatum, Secundum atrial septal defect, P... |
OMIM:142900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Optic atr... |
OMIM:612301 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scapular winging, Scoliosis, Hyperlordosis |
OMIM:181405 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Pneumothorax, Clef... |
OMIM:601776 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Pancreatic cysts, Abnormality of the pancreas, Abnor... |
ORPHA:1318 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect |
ORPHA:2256 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, ... |
OMIM:234050 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Cleft palate, Wide mouth, Oligodon... |
OMIM:272950 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, High, narrow palate, Mitral valve prolapse, Abnormal sternum morphology, High palate, S... |
OMIM:177850 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestina... |
ORPHA:2152 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... |
OMIM:617798 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Severe short stature, Ventricular septal defect, Patent ductus ... |
ORPHA:3047 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Neurofibroma, ... |
OMIM:162200 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Pontine Tegmental Cap Dysplasia |
|
Pontine tegmental cap, Facial palsy, Rib fusion, Hemivertebrae, Scoliosis, Dysphagia, Hypoplasia ... |
OMIM:614688 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P... |
ORPHA:2260 |
Spondyloocular Syndrome |
|
Duodenal ulcer, Short stature, Mitral valve prolapse, Shield chest, Pectus carinatum, Platyspondy... |
OMIM:605822 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Thin upper lip vermilion, Wide mouth |
OMIM:608688 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Meningocele, Disproportionate short stature, Tracheoesophageal fistula, Clef... |
ORPHA:2879 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
ORPHA:488632 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Oval face, Narrow mouth |
ORPHA:261222 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Long philtrum |
OMIM:207410 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Protruding ear, Scoliosis, Midface retrusion |
OMIM:613454 |
Sillence Syndrome |
|
Back pain, Oval face, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morpholo... |
ORPHA:3168 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Microcephaly... |
OMIM:616268 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Pineal cys... |
OMIM:600268 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Short stature, Cerebellar vermis hypoplasia, Ventricular septal defect, Dandy-Walker malformation |
OMIM:616901 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Elevat... |
OMIM:619525 |
Monosomy 13Q34 |
|
Hepatic steatosis, Microcephaly, Hematochezia, Growth delay, Pulmonic stenosis, Common atrium, Ag... |
ORPHA:96168 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle... |
OMIM:613091 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Kyphosis, Sensorineural hearing impairment, Ankle clonus, Tongue fasciculations, ... |
OMIM:211530 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Bdv Syndrome |
|
Atrial septal defect, Delayed puberty |
OMIM:619326 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Brachycephaly, Plagiocephaly, Scoliosis, Abnormal facial shape, Hearing ... |
ORPHA:500055 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Growth delay, High palate, Ho... |
OMIM:613884 |
Distal Deletion 12Q |
|
Short stature, Kyphoscoliosis, Short neck, Microcephaly, Esophageal atresia, Patent ductus arteri... |
ORPHA:96149 |
Atypical Werner Syndrome |
|
Narrow face, Short stature, Micrognathia, Aortic valve calcification, Abnormal thorax morphology,... |
ORPHA:79474 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Cryptorchidism, Ectopic anus, Hypodon... |
ORPHA:3138 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, High palate, Aplasia/Hypoplasia of the... |
ORPHA:480880 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofac... |
ORPHA:1519 |
Classic Homocystinuria |
|
Cataract, Dental crowding, Ectopia lentis, Pectus excavatum, Kyphosis, Pectus carinatum, Genu val... |
ORPHA:394 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High p... |
OMIM:309800 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology, Dysgenesi... |
ORPHA:8 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Kyphosis, Osteoarthritis, Growth delay, Gingival bleeding, Delayed puberty,... |
ORPHA:77259 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Cerebral calcification, Ventricular septal defect, Optic atrophy, C... |
ORPHA:2710 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Frontal bossing, Severe short stature, Corneal opacity, Abnormal dental enamel morphology, Campto... |
ORPHA:2273 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior border of scapula, Myo... |
OMIM:250220 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cerebral white matter atrophy, Short stature, Short neck, Secundum atrial septal defect, Lymphang... |
ORPHA:99646 |
Rett Syndrome |
|
Kyphosis, Short stature, Scoliosis, Abnormality of the dentition |
OMIM:312750 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Disproportionate short-limb short stat... |
OMIM:166210 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Pulmonary fibrosis, Flaring o... |
OMIM:612852 |
Fibular Hemimelia |
|
Thrombocytopenia, Thoracoabdominal wall defect, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Occipital encephalocele, Optic disc pallor, Absent septum pellucidum, Microce... |
OMIM:267750 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Neonatal death, Long philtrum, Atrial septal defect, Patent foramen ova... |
OMIM:620244 |
Distal Deletion 6P |
|
Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atria... |
ORPHA:96125 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:444077 |
X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Growth delay, Aortic ... |
ORPHA:96201 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Cataract, Scoliosis |
ORPHA:88628 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Short stature, Cleft hard p... |
OMIM:300990 |
Severe Congenital Nemaline Myopathy |
|
Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Pulmonary hypoplasia, Dysph... |
ORPHA:171430 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Ventricular septal defect, Microcephaly, Dilatation of the ventricular cavity, Pul... |
ORPHA:459070 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Arterial s... |
ORPHA:565 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Microcephaly, Pectus excavatum, Secundum atrial septal defect, High, narrow... |
ORPHA:1439 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones |
OMIM:617821 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Short stature, ... |
OMIM:619841 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Venous insufficiency, Open bite, Hydrocephalus, Bronchogenic cyst |
ORPHA:2969 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Microtia, first degree, Short upper lip, Wide mouth, Hypoplasia of the zy... |
OMIM:200110 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Short stature, Abnormal pulmonary valve morphology, Patent ductus arterios... |
ORPHA:857 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick vermilion border, Gastro... |
OMIM:300896 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Cleft palate, C... |
ORPHA:363611 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Short stature, Short neck, Abnormal sternum morphology, High palate, P... |
OMIM:607721 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Short stature, Facial palsy, Microcephaly, Pectus excavatum, Celia... |
OMIM:619325 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Sotos Syndrome |
|
Narrow face, No permanent dentition, Atrial septal defect, Conductive hearing impairment, Abnorma... |
ORPHA:821 |
Cloacal Exstrophy |
|
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia |
ORPHA:93929 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Short stature, Pancreatic fibrosis, L... |
OMIM:208500 |
Omodysplasia 1 |
|
Ventricular septal defect, Rhizomelia, Short neck, Pulmonary artery stenosis, Disproportionate sh... |
OMIM:258315 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect, Microcephaly, Postnatal growth retardation, Short neck |
OMIM:610832 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Short stature, Microcephaly, Recurrent upper respiratory tract infections,... |
OMIM:308205 |
Lumbar Syndrome |
|
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida |
ORPHA:83628 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Gastroesophageal reflux, Patent foramen ovale |
ORPHA:542306 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:609541 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Protruding ear, Abnormal curvature of the ... |
OMIM:619475 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Growth delay, High palate, Gastroesophageal reflux, Intrauterine growt... |
OMIM:614653 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Reticuloc... |
OMIM:227645 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Pectus excavatum, Cervical C5/C6 vertebrae ... |
OMIM:613458 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrophy, ... |
OMIM:610505 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Short stature, Elev... |
OMIM:243800 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, High palate, Thin ribs |
OMIM:300219 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis |
OMIM:240300 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation, Spinal dysraphism |
OMIM:612918 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Hamartoma of tongue |
OMIM:617563 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... |
ORPHA:2729 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, Ab... |
OMIM:182210 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Pectus excavatum, Microcephaly, Undulate ribs, High palate, Total anomalous pulmonary... |
OMIM:609945 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period... |
ORPHA:286 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, High palate, Long ear, Broad ribs, Elbow ankylosis, ... |
OMIM:276820 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Pericarditis, Pericardial effusion, Kyphosis, Cardiomyopathy, Macrotia |
OMIM:212065 |
Genitopatellar Syndrome |
|
Anal stenosis, Ventricular septal defect, Microcephaly, Malrotation of small bowel, Anteriorly pl... |
OMIM:606170 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Hy... |
ORPHA:402075 |
Phakomatosis Pigmentokeratotica |
|
Scoliosis, Pheochromocytoma, Spina bifida |
ORPHA:2874 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Erythroid hypoplasia, Reticulocytope... |
OMIM:612528 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia... |
ORPHA:370997 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Short stature, Pylo... |
ORPHA:199 |
Postencephalitic Parkinsonism |
|
Kyphosis, Open mouth, Camptocormia |
ORPHA:97349 |
3Q29 Microdeletion Syndrome |
|
Macrocephaly, Microcephaly, Six lumbar vertebrae |
ORPHA:65286 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Short stature, Ventricular septal defect, Microcephaly, Optic atrophy, Ventric... |
OMIM:614947 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Microcephaly, Arteria lusoria, Anteriorly placed anus, High palate, Scoliosis, Hypoplasia of the ... |
OMIM:618653 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short stature, Short neck, Pectus excavatum, Secundum atria... |
OMIM:601321 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short stature, Optic neuropathy, Increased intervertebral space, Optic... |
OMIM:619727 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Pectus excavatum, Kyphosis, High, narrow palate, Thick lower lip vermilion, High p... |
OMIM:162300 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Gastroesophageal reflux, Hemiballismus, Scoliosis, Atrial septal defect |
ORPHA:522077 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Xylt1-Cdg |
|
Hepatomegaly, Short stature, Microcephaly, Cleft palate, Growth delay, Short clavicles, Broad ribs |
ORPHA:370930 |
Penile Agenesis |
|
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... |
ORPHA:49 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Bronchiectasis, Long philtrum, Emphysema, Peripheral pulmonary artery ... |
OMIM:123700 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Duplicated colon, Rectoperineal fistula, Abnormal hear... |
ORPHA:227 |
Cowden Syndrome |
|
Cataract, Short stature, Pectus excavatum, Kyphosis, Furrowed tongue, Macroglossia, High palate, ... |
ORPHA:201 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... |
ORPHA:97214 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insufficiency, Abnormali... |
ORPHA:285 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal... |
OMIM:107480 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Cleft palate, Hepatosplenomegaly, Broad ribs, Cholecystitis, Umbilic... |
OMIM:301066 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Flat occiput, Kyphosis, Growth delay, Delayed pub... |
ORPHA:2232 |
Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Peripheral axonal neuropathy, Thin ribs |
ORPHA:169189 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Intestinal malrotation, Myelomeningocele, Hydrocephalus,... |
OMIM:258040 |
Alexander Disease |
|
Large face, Frontal bossing, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis |
ORPHA:58 |
17Q11 Microdeletion Syndrome |
|
Short stature, Kyphosis, Abnormal heart morphology, Lisch nodules, Abnormality of the sphenoid si... |
ORPHA:97685 |
Occipital Horn Syndrome |
|
Down-sloping shoulders, Aplastic clavicle, Pectus excavatum, Kyphosis, High, narrow palate, Hip d... |
ORPHA:198 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Short stature, Narrow mouth |
OMIM:620072 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Round face |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Round face |
OMIM:610475 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse wh... |
ORPHA:1934 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Thick vermilion b... |
OMIM:617107 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal h... |
ORPHA:322 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Thick vermilion border, Short stature |
OMIM:250410 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Microcephaly, Optic atrophy, Chylothorax, Leukemia, Atrial septal defect, P... |
ORPHA:2526 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... |
OMIM:273395 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... |
ORPHA:83454 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Dispr... |
OMIM:607778 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... |
OMIM:250420 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Abnormality of the dentition, Oral-pharyngeal dysphagia, Eso... |
ORPHA:506358 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Capillary malformation of the lip, Venous malformation |
OMIM:613089 |
Pallister-Killian Syndrome |
|
Short neck, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Rhizomelia, Mesomelic/rhiz... |
OMIM:601803 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Subdural hemorrhage, Thin ribs |
OMIM:615368 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Short stature, Carious teeth, Patent ductus arteriosus, Downturned cor... |
OMIM:619522 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Ventricular septal defect |
ORPHA:2438 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Papilledema, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
Keutel Syndrome |
|
Cerebral calcification, Ventricular septal defect, Recurrent bronchitis, Costal cartilage calcifi... |
OMIM:245150 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Micr... |
OMIM:620330 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis |
ORPHA:85167 |
Neurofibromatosis Type 1 |
|
Cataract, Short stature, Corneal opacity, Kyphosis, Genu varum, Genu valgum, Lisch nodules, Scoli... |
ORPHA:636 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Round face |
OMIM:610489 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale, Colpocephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypo... |
ORPHA:477993 |
Clapo Syndrome |
|
Varicose veins, Capillary malformation of the lip, Venous malformation |
ORPHA:168984 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia |
OMIM:601374 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Growth delay, Patent foramen ovale |
OMIM:225250 |
Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Neoplasm of the gallbladder, Intussusception, Abnormal stomach morp... |
ORPHA:512 |
Norrie Disease |
|
Microcephaly, Venous insufficiency, Optic atrophy, Scoliosis, Delayed puberty, Aplasia/Hypoplasia... |
ORPHA:649 |
Neuroocular Syndrome |
|
Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Ankylogloss... |
OMIM:619539 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Dysphagia, Diffuse c... |
ORPHA:93256 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Kyphoscoliosis, Recurrent pneumonia, Thin ribs, Platyspondyly, Progr... |
OMIM:225400 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Hypoplastic scapulae, Ventricular septal defect, Ectopic posterior pituitary, Ante... |
OMIM:181450 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Short stature, Bicuspid aortic valve, Microcephaly, Secundum atrial septal defect, Postnatal grow... |
OMIM:613355 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Short stature, Cataract, Round face, Delayed men... |
ORPHA:64 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Astigmatism, Scoliosis |
OMIM:619482 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis |
ORPHA:171629 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |