| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... |
OMIM:608644 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:616481 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Rhin... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rhinitis, Respirator... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 10 |
|
Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 19 |
|
Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defective ciliary clea... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Abnormal ciliary mo... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
| Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Immotile cilia, Rhin... |
OMIM:615444 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia, Chronic sinusitis |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency, Respiratory insu... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:612650 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Dental crowding, Kyphoscoliosis, Thick lower lip vermilion, Everted lower lip vermilion, Scoliosis |
OMIM:300844 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Cough, Ciliary dysk... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, High palate, Scoliosis |
OMIM:611225 |
| Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short nose |
OMIM:155050 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Short philtrum, Everted lo... |
ORPHA:2429 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose |
ORPHA:2598 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Cleft palate, Wide nasal bridge, Kyphoscoliosis |
OMIM:612913 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Thin upper lip vermilion |
OMIM:609384 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis |
ORPHA:1858 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Short neck, Kyphosis, Wide nasal bridge, High palate, Retrognathia |
OMIM:618393 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis |
OMIM:112350 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Hall-Riggs Syndrome |
|
Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,... |
OMIM:234250 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies |
OMIM:616583 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Winchester Syndrome |
|
Kyphosis, Gingival overgrowth |
OMIM:277950 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... |
OMIM:615761 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Hyperlordosis, Micrognathia, Carious te... |
OMIM:618363 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Kyphosis, Dental malocclusion, Short philtrum, Sc... |
ORPHA:2471 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
| Ck Syndrome |
|
Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,... |
OMIM:300831 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Wide nasal b... |
ORPHA:137834 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis |
OMIM:244400 |
| Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis, Abnormality of the dentition |
ORPHA:1548 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Thick lower lip vermilion, Wide nasal bridge, Gingival overgrowth, High palate, Bifid u... |
OMIM:618658 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis |
ORPHA:505652 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Wide nasal bridge, Orofacial cleft, Incomplete cleft of th... |
ORPHA:77300 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Open bite, Kyphosis, Carious teeth, Vertebral segmentation defect, Scoliosis, Abnor... |
ORPHA:2617 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Micrognathia, Kyphosis, Deep philtrum, Wide nasal bridge, Wide mouth, Short philtrum, Thick vermi... |
OMIM:615834 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Wide nasal bridge, Thoracolumbar scoliosis |
OMIM:313420 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis |
OMIM:300676 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental maloccl... |
ORPHA:61 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent median palatal r... |
OMIM:300602 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Short neck, Kyphosis, High palate, Scoliosis, Retrognathia |
OMIM:611890 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:300861 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis... |
ORPHA:2916 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Persistence of primary t... |
OMIM:265800 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Hypomelanosis Of Ito |
|
Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis |
OMIM:300337 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Malar prominence, Micrognathia, Kyphosis, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short n... |
ORPHA:2983 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Kyphosis, Scoliosis |
ORPHA:1883 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Micrognathia, Kyphosis, Short neck, Malar prominence, ... |
ORPHA:2522 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Kyphosis, Thick lower lip vermilion, Widely spaced teeth, Scoliosis |
OMIM:619797 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Kyphosis, Wide nasal bridge, Short philtrum, Scoliosis, Narrow mouth, Retrognathia |
ORPHA:352490 |
| Ciliary Dyskinesia, Primary, 20 |
|
Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory insufficiency due to defective... |
OMIM:615067 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Micrognathia, Kyphosis, Short neck, Scoliosis, Abnormal palate morphology |
ORPHA:75840 |
| Crisponi Syndrome |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum |
ORPHA:1545 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ... |
ORPHA:2062 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Cleft p... |
ORPHA:2635 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wi... |
OMIM:620250 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, High palate, Scoliosis, Short neck |
ORPHA:178148 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont... |
OMIM:253000 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip verm... |
ORPHA:261144 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... |
ORPHA:582 |
| Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Short neck, Kyphosis, Abnormality of the tongue, Abnormal form of the vertebral bod... |
ORPHA:3098 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Short neck... |
ORPHA:1798 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Scoliosis |
OMIM:618124 |
| 15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... |
ORPHA:261190 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Harrod Syndrome |
|
Long nose, Kyphosis, Dental malocclusion, High palate, Scoliosis, Narrow mouth |
ORPHA:2115 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, High, narrow palate, Scoliosis |
ORPHA:2181 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Kyphosis |
OMIM:619040 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Malar flattening, Scoliosis |
OMIM:130060 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Short neck, High palate, Broad alveolar ridges, Scoliosis,... |
OMIM:314580 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Hyperlordosis, Micrognathia, Kyphosi... |
ORPHA:763 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Short neck, Kyphosis, Scoliosis, Microdontia |
ORPHA:3191 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Abnormality of the dentition, Kyphosis, Downturned corners of mouth, Thin vermilion b... |
ORPHA:238750 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Platyspondyly, Scoliosis |
OMIM:126550 |
| Baralle-Macken Syndrome |
|
Kyphosis, High, narrow palate |
OMIM:619255 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Kyphosis, Abnormal fo... |
ORPHA:2050 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Micrognathia |
OMIM:618272 |
| Stickler Syndrome, Type I |
|
Micrognathia, Kyphosis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Platysp... |
OMIM:108300 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Kyphosis, Wide nasal bridge, Oligodontia... |
OMIM:617061 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Micrognathia, Kyphosis, Deep philtrum, Wide nasal bridge, Cleft palate,... |
ORPHA:404440 |
| Ruvalcaba Syndrome |
|
Dental crowding, Kyphosis, Thin vermilion border, Scoliosis, Narrow mouth, Abnormal vertebral epi... |
ORPHA:3121 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Long nose, Kyphosis, Carious teeth... |
ORPHA:2769 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Widely spaced primary teeth, ... |
ORPHA:90322 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Microdontia |
OMIM:619718 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Downturned corner... |
ORPHA:2075 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
| Ruvalcaba Syndrome |
|
Kyphosis, Dental crowding, Scoliosis |
OMIM:180870 |
| Flynn-Aird Syndrome |
|
Carious teeth, Kyphosis, Scoliosis |
ORPHA:2047 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Kyphosis, Thick vermilion border, Everted lower lip vermilion, Scoliosis, Retrogn... |
OMIM:300280 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Wide mouth, Long philtrum, Short nose |
OMIM:608776 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
| Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o... |
OMIM:253010 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis |
ORPHA:536516 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Kyphosis, Narrow palate, Short upper lip, Thick vermilion border, Short ph... |
ORPHA:364028 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Hypoplastic f... |
OMIM:607326 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Kyphosis, Carious teeth, Downturned corners of mouth, Thin vermilion ... |
OMIM:617602 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis |
OMIM:606612 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Orofacial cleft, Scoliosis |
ORPHA:79107 |
| Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Kyphosis, Scoliosis, Biconcave vertebral bodies, Dentinogenesis imperfecta |
OMIM:259420 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, High palate, Short philtrum |
OMIM:615433 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi... |
ORPHA:2789 |
| Desbuquois Dysplasia 1 |
|
Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Narrow mouth, M... |
OMIM:251450 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Kyphosis, High... |
ORPHA:96169 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Kyphosis, Thick lower lip vermilion, Gingival overgrowth, Abnormal for... |
ORPHA:3219 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis |
OMIM:607155 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Kyphosis, Scoliosis, Open mouth, Retrognathia |
OMIM:615547 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Kyphosis, Scoliosis, Narrow mouth |
OMIM:615381 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
| Diastrophic Dysplasia |
|
Micrognathia, Kyphosis, Abnormal form of the vertebral bodies, Cleft palate, Scoliosis, Hypoplast... |
ORPHA:628 |
| 3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increase... |
ORPHA:2616 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Kyphosis, Abnormal palate morphology |
ORPHA:3082 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyph... |
OMIM:618443 |
| Sialidosis Type 1 |
|
Kyphosis, Thick lower lip vermilion, Wide nasal bridge, Abnormal form of the vertebral bodies, Sc... |
ORPHA:812 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:609008 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Short neck, Kyphosis, Cleft palate, Downturned corners of mouth, Scoliosis, Lo... |
OMIM:301041 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Downturned corners of mouth, Kyphosis, Scoliosis |
ORPHA:464282 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
| Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Abnormality of the philtrum, Micrognathia, Short neck |
ORPHA:3409 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Megalocornea-Intellectual Disability Syndrome |
|
Micrognathia, Kyphosis, Wide nasal bridge, High palate, Short philtrum, Scoliosis, Everted lower ... |
ORPHA:2479 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, High palate, Scoliosis |
ORPHA:171436 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Kyphosis, Thick lower lip vermilion, Wide mouth, Macroglossia |
OMIM:300354 |
| 15Q24 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Abnormal palate morphology, Sc... |
ORPHA:94065 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Micrognathia, Kyphosis, Cleft lip, Dental malocclusion, Wide nasal bri... |
OMIM:616894 |
| Trisomy 20P |
|
Short neck, Micrognathia, Kyphosis, Abnormality of the dentition, Abnormal form of the vertebral ... |
ORPHA:261318 |
| Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Kyphosis, High, narrow p... |
OMIM:119600 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Short neck, Micrognathia, Kyphosis, Hemivertebrae, Orofacial cl... |
ORPHA:958 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Kyphoscoliosis, Protruding tongue, Absent fr... |
OMIM:301040 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, Wide nasal bridge, ... |
OMIM:620351 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Abnormality of the dentition, Kyphosis, Eruption failure, High pal... |
ORPHA:476126 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
| Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Kypho... |
OMIM:609029 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Kyphosis, Platyspondyly, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Micrognathia, Kyphosis, Scoliosis, Spina bifida occulta |
OMIM:618291 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Arthrogryposis, Distal, Type 5 |
|
Kyphosis, High palate, Scoliosis |
OMIM:108145 |
| 3C Syndrome |
|
Short neck, Micrognathia, Kyphosis, High, narrow palate, Hemivertebrae, Wide nasal bridge, Orofac... |
ORPHA:7 |
| Micro Syndrome |
|
Micrognathia, Kyphosis, Wide nasal bridge, High palate, Short philtrum, Scoliosis, Short nose |
ORPHA:2510 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
| Basilar Impression, Primary |
|
Craniofacial asymmetry, Kyphoscoliosis, Short neck |
OMIM:109500 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Oligodontia |
ORPHA:324737 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip vermilion, Macroglossia |
ORPHA:583 |
| Pelger-Huet Anomaly |
|
Kyphosis, Abnormality of the dentition, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Kyphosis, High, narrow palate, Cleft palate, Scol... |
ORPHA:3378 |
| Marden-Walker Syndrome |
|
Micrognathia, Short neck, Kyphosis, High, narrow palate, Cleft palate, High palate, Scoliosis, Na... |
OMIM:248700 |
| Sialidosis Type 2 |
|
Kyphosis |
ORPHA:87876 |
| Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:615108 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft palate, High palate,... |
OMIM:130720 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Kyphosis, Narrow mouth, Abnormal mandible morphology, Cleft palate, Down... |
ORPHA:2215 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Abnormality of the dentitio... |
ORPHA:568 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Short philtrum,... |
OMIM:616449 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... |
ORPHA:1724 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Narrow mouth |
ORPHA:261222 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, Kyphosis,... |
ORPHA:193 |
| Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:615109 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long... |
OMIM:619244 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis |
ORPHA:1005 |
| 16Q24.3 Microdeletion Syndrome |
|
Micrognathia, Kyphosis, Wide mouth, Thick vermilion border, High palate, Scoliosis, Long philtrum... |
ORPHA:261250 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, High palate, Scoliosis, Spinal rigidity |
OMIM:254090 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Micrognathia, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scoliosis, Beaking of ve... |
OMIM:230500 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
| Hurler-Scheie Syndrome |
|
Kyphosis, Thick vermilion border, Scoliosis, Micrognathia |
OMIM:607015 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Cleft palate, Thin vermilion border, Hypodontia, Scoliosis, Long philtrum |
ORPHA:254346 |
| Jaberi-Elahi Syndrome |
|
Kyphosis, Short nose, Triangular mouth, Scoliosis |
OMIM:617988 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Retrognathia |
OMIM:617190 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Kyphosis, Cleft pala... |
ORPHA:85199 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis |
OMIM:619909 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98863 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, Open bite, Kyphosis, Thick lower lip vermilion, Wide mouth, High palate, Short philtr... |
ORPHA:85293 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Micrognathia, Kyphosis, Deep philtrum, Short philtrum, Scoliosis |
OMIM:619951 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Kyphosis, High palate, Short philtrum, Malar flattening |
OMIM:609944 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Narrow mouth... |
ORPHA:77301 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
| Rett Syndrome |
|
Kyphosis, Scoliosis, Abnormality of the dentition |
OMIM:312750 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyph... |
OMIM:223800 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Hyperlordosis, Kyphosis, Gingival overgrowth, Abnormal form of the vertebr... |
ORPHA:354 |
| Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Wide nasal bridge, Gingival overgrowth,... |
OMIM:607014 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98853 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Scoliosis |
OMIM:248800 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Downturned corners of mouth, Kyphosis, Thin upper lip vermilion, Scoliosis |
OMIM:619557 |
| 2P15P16.1 Microdeletion Syndrome |
|
Kyphosis, Wide nasal bridge, High palate, Everted lower lip vermilion, Scoliosis, Narrow mouth, R... |
ORPHA:261349 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Cleft upper... |
ORPHA:828 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth |
OMIM:300942 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis |
OMIM:266270 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Wide nasal bridge, Thin vermilion border, Scoliosis |
OMIM:182210 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, High palate, High, narrow palate, Scoliosis |
OMIM:177850 |
| Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:158350 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Kyphosis, Dental malocclusion, Cleft palate, D... |
OMIM:265000 |
| Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Abnormality of the dentition |
ORPHA:349 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta |
OMIM:610915 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Short nose, Smoot... |
OMIM:617527 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Micrognathia, Kyphosis, High palate, Thick vermilion border, Scoliosis, Short nose |
OMIM:619005 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Short neck, Kyphosis, Thick lower lip vermilion, Macroglossia, Widely ... |
OMIM:309900 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cleft lip, Cleft palate, Micrognathia |
OMIM:619123 |
| Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent frontal sinuses, Open bite, Abnorm... |
ORPHA:955 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Cleft upper lip, Kyphosis, Cleft palate, Narrow palate, High pal... |
OMIM:610443 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Short nose, Smoot... |
ORPHA:521426 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Malar... |
OMIM:271700 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Craniofacial osteosclerosis, Plat... |
OMIM:618476 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Kyphosis, Thick vermilion border, Scoliosis |
OMIM:618493 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Short neck, Kyphosis, Deep philtrum, Thin lower lip vermilion, Submucou... |
OMIM:619194 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Open mouth, Camptocormia |
ORPHA:97349 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Thoracic scoliosis, Prominence of the premaxilla, Irregular dentitio... |
OMIM:602535 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis |
OMIM:211530 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Kyphosis, High, narro... |
ORPHA:464738 |
| Schwartz-Jampel Syndrome |
|
Pursed lips, Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity,... |
ORPHA:800 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, Ver... |
ORPHA:251014 |
| Distal Triplication 15Q |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Retrognathia |
ORPHA:314588 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Micrognathia, Kyphosis, Tooth malp... |
ORPHA:536532 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Micrognathia, Short neck, Kyphosis, Cleft palate, Scoliosis |
ORPHA:140 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
| Noonan Syndrome 14 |
|
Short neck, Kyphosis, High, narrow palate, Wide mouth, Thick vermilion border, Long philtrum |
OMIM:619745 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, High, narrow palate, Thick lower lip vermilion, High palate, Scoliosis |
OMIM:162300 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,... |
OMIM:249420 |
| Atelis Syndrome 2 |
|
Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Downturned corners of... |
OMIM:620185 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Short neck, Kyphosis, High, narrow pa... |
OMIM:300966 |
| Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormality of the philtrum, Cleft upper lip, Micrognathia, Kyphosis, Wide nasal b... |
ORPHA:280 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Kyphosis, Platyspondyly, Dental malocclusion |
ORPHA:1855 |
| Alstrom Syndrome |
|
Kyphosis, Abnormality of the dentition, Scoliosis, Gingivitis |
OMIM:203800 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cleft lip, Hemivertebrae, Narrow palate, Cleft palate, Scoliosis |
OMIM:618223 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Kyphosis, Thick lower lip vermilion, Dental malocclusion, Narrow palate, L... |
OMIM:303600 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening |
OMIM:617011 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Short neck, Micrognathia, Kyphosis... |
ORPHA:818 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular ... |
OMIM:143095 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Kyphoscoliosis, Kyphosis, Thick lower lip vermilion, Clef... |
ORPHA:3063 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Short hard palate, Scoliosis |
ORPHA:1969 |
| Zttk Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Submucous cleft hard palate, H... |
OMIM:617140 |
| Cdags Syndrome |
|
Kyphosis, Malar flattening, Cleft palate |
OMIM:603116 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, Kyphosis, High, narrow palate, Submucou... |
ORPHA:2658 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Retrognathia, High palate, High, narrow palate |
OMIM:616914 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Kyphoscoliosis, High, narrow palate, Kyphosis, Wide mouth, Short philtrum, Widel... |
OMIM:300967 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Cleft palate, Cleft upper lip, Micrognathia |
OMIM:153400 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Kyphosis, High palate, Scoliosis, Narrow mouth |
OMIM:618050 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Thin upper lip vermilion, Scoliosis |
OMIM:613454 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Gingival bleeding |
ORPHA:77259 |
| Cerebrocostomandibular Syndrome |
|
Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Short hard palate |
ORPHA:1393 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Premature loss of teeth |
OMIM:239000 |
| Weaver Syndrome |
|
Mandibular prognathia, Kyphosis, Scoliosis, Long philtrum, Retrognathia |
OMIM:277590 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
| Marden-Walker Syndrome |
|
Micrognathia, Kyphosis, Submucous cleft hard palate, Abnormal form of the vertebral bodies, Cleft... |
ORPHA:2461 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Carious teeth, Kyphosis, Wide nasal bridge, High pa... |
OMIM:278250 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial osteosclerosis, A... |
ORPHA:1328 |
| Mgat2-Cdg |
|
Kyphosis, Open mouth, Dental crowding, Scoliosis |
ORPHA:79329 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Cervical kyphosis, Abnormal dental enamel... |
ORPHA:666 |
| Prader-Willi Syndrome |
|
Thin upper lip vermilion, Carious teeth, Kyphosis, Downturned corners of mouth, Scoliosis |
OMIM:176270 |
| Alexander Disease |
|
Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis |
ORPHA:58 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Absent uvula, Micrognathia |
OMIM:619708 |
| Aspartylglucosaminuria |
|
Kyphosis, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mouth, Macroglossia, Platy... |
OMIM:208400 |
| Classic Homocystinuria |
|
Kyphosis, High palate, Dental crowding, Scoliosis |
ORPHA:394 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:500055 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Dental maloccl... |
OMIM:216400 |
| Marfan Syndrome |
|
Dental crowding, Micrognathia, Open bite, Kyphosis, High, narrow palate, Abnormal zygomatic bone ... |
ORPHA:558 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Micrognathia, Kyphosis, High palate, Smooth philtrum |
OMIM:300960 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Downturned corners of mouth, Kyphosis, Thin upper lip vermilion, Scoliosis |
ORPHA:398069 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, High palate, Malar flattening |
ORPHA:457359 |
| Mend Syndrome |
|
Sacral dimple, Asymmetry of the mouth, Micrognathia, Kyphosis, Cleft palate, High palate |
ORPHA:401973 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Cleft upper lip, Micrognathia, Kyphosis, Wide nasal bridge, Abno... |
OMIM:194190 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Dental maloccl... |
OMIM:133540 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Thin upper lip vermilion |
OMIM:212065 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Abnormal dental morphology, Hyperlordosis, Kyphosis, Wide nasal bridge, Everted lo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Abnormal dental morphology, Hyperlordosis, Kyphosis, Wide nasal bridge, Everted lo... |
ORPHA:363958 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Cleft soft palate, Kyphosis, Supernumerary tooth, Widely spaced teeth, Scoliosis, ... |
ORPHA:268261 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Thin upper lip vermilion, Kyphosis, High, narrow palate, Short uvula, Wide nasal bridg... |
OMIM:619475 |
| Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Abnormal ... |
ORPHA:191 |
| Acromegaly |
|
Mandibular prognathia, Broad jaw, Abnormality of the dentition, Kyphosis, Thick lower lip vermili... |
ORPHA:963 |
| Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Abnormality of the dentition, Kyphosis, Thick lower lip vermili... |
ORPHA:314769 |
| Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Conical tooth, Kyphosis, Thic... |
OMIM:135900 |
| Williams Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Microdontia, ... |
ORPHA:904 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Thin upper lip vermilion |
ORPHA:2232 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Kyphosis, Enamel hypoplasia, Scoliosis |
ORPHA:90324 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464311 |
| Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, High palate, Long philtrum |
OMIM:304150 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464306 |
| Cowden Syndrome |
|
Kyphosis, Furrowed tongue, Macroglossia, High palate, Scoliosis |
ORPHA:201 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
| Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2911 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An... |
OMIM:300106 |
| Occipital Horn Syndrome |
|
Kyphosis, High, narrow palate, Platyspondyly, Scoliosis, Long philtrum |
ORPHA:198 |
| Mucolipidosis Type Ii |
|
Kyphosis, Gingival overgrowth |
ORPHA:576 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Kyphosis, Thick lower lip vermilion, Wide nasal bridge, Downturned cor... |
OMIM:259050 |
| Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Platyspondyly, Enamel hypoplasia, Scoliosis |
OMIM:309000 |
| 1P36 Deletion Syndrome |
|
Kyphosis, Wide nasal bridge, Spinal canal stenosis, Scoliosis, Narrow mouth, Long philtrum |
ORPHA:1606 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Abnormality of the dentition, Kyphosis, High, narrow palate, Micrognathia, Aplasia/Hy... |
ORPHA:99413 |
| Turner Syndrome |
|
Short neck, Abnormality of the dentition, Kyphosis, High, narrow palate, Micrognathia, Aplasia/Hy... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Short neck, Abnormality of the dentition, Kyphosis, High, narrow palate, Micrognathia, Aplasia/Hy... |
ORPHA:99228 |
| Monosomy X |
|
Short neck, Abnormality of the dentition, Kyphosis, High, narrow palate, Micrognathia, Aplasia/Hy... |
ORPHA:99226 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal dental enamel morphology, Kyphosis, Cheilitis, Platyspondyly, Abnormality of the vertebr... |
ORPHA:2273 |
| Branchiooculofacial Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Cleft upper lip, Short neck, Lower lip pit, Cleft of chin,... |
OMIM:113620 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:744 |
| Viss Syndrome |
|
Microretrognathia, Cleft soft palate, Micrognathia, Kyphosis, High, narrow palate, Retrognathia, ... |
OMIM:619472 |
| 17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the sphenoid sinus, Abnormality of the vertebral column, Beaking of vert... |
ORPHA:97685 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:636 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Abnormality of the dentition, Kyphosis, No permanent dentition, Delayed ... |
ORPHA:821 |
| Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Premature loss of primary tee... |
OMIM:216340 |
| Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Kyphosis, Gingivitis, Tooth agenesis, Lumbar sco... |
ORPHA:64 |
