| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 16 |
|
Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 24 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 7 |
|
Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia |
OMIM:619436 |
| Ciliary Dyskinesia, Primary, 23 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:615451 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia |
OMIM:618801 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:242670 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 13 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:613193 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Ciliary Dyskinesia, Primary, 3 |
|
Ciliary dyskinesia |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 26 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Immotile cilia |
OMIM:615500 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Kyphoscoliosis, Thick lower lip vermilion, Dental crowding, Scoliosis, Everted lower lip vermilion |
OMIM:300844 |
| Ciliary Dyskinesia, Primary, 18 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Immotile cilia |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 27 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 28 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:615505 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
| Ciliary Dyskinesia, Primary, 19 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Immotile cilia |
OMIM:614935 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Scoliosis, High palate, Kyphosis |
OMIM:611225 |
| Ciliary Dyskinesia, Primary, 11 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 10 |
|
Ciliary dyskinesia |
OMIM:612518 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting |
OMIM:155050 |
| Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose, Short philtrum, Mandibular prognathia, Scoliosis, Everted lower lip vermilion, Kyphos... |
ORPHA:2429 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Scoliosis, High palate, Kyphosis, Micrognathia, Long philtrum |
ORPHA:2598 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
| Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency |
OMIM:617091 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath... |
OMIM:601216 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Kyphosis |
OMIM:609384 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion |
ORPHA:1858 |
| Ciliary Dyskinesia, Primary, 22 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Immotile cilia |
OMIM:615444 |
| Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Wide nasal bridge |
OMIM:612913 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Scoliosis, Persistence of primary teeth, Hypopl... |
OMIM:265900 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Delayed eruption of teeth, Kyphosis, Dental malocclusion, Tongue atrophy |
OMIM:141300 |
| Brachyolmia Type 1, Hobaek Type |
|
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... |
OMIM:271530 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck |
OMIM:300718 |
| Ciliary Dyskinesia, Primary, 17 |
|
Ciliary dyskinesia |
OMIM:614679 |
| Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, High palate, Kyphosis, Micrognathia, Short neck, Wide nasal bridge |
OMIM:618393 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Beaking of vertebral bodies, Vertebral wedging, Trismus, Platyspondyly |
OMIM:616583 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
| Hall-Riggs Syndrome |
|
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... |
OMIM:234250 |
| Ciliary Dyskinesia, Primary, 25 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:615482 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Ciliary Dyskinesia, Primary, 14 |
|
Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:613807 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... |
ORPHA:49042 |
| Winchester Syndrome |
|
Gingival overgrowth, Kyphosis |
OMIM:277950 |
| Ciliary Dyskinesia, Primary, 2 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:606763 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Oligodontia, Scoliosis, Everted lower lip vermilion, Kyphosis, Anodontia |
ORPHA:276630 |
| Ciliary Dyskinesia, Primary, 30 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:616037 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
| Ciliary Dyskinesia, Primary, 9 |
|
Ciliary dyskinesia |
OMIM:612444 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced respiratory ciliary beating frequency |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Ciliary dyskinesia |
OMIM:620197 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 5 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:608647 |
| Brachyolmia Type 1, Toledo Type |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Intervertebral s... |
OMIM:271630 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Dental crowding, Scoliosis, Hyperlordosis, Kyphosis, Downturned corners of mouth, ... |
OMIM:615761 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Kyphoscoliosis, Mandibular prognathia, Hyperlordosis, High palate, Scoli... |
OMIM:618363 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Thoracolumbar kyphosis |
OMIM:236660 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type If |
|
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Mcdonough Syndrome |
|
Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Scoliosis, Kyphosis... |
ORPHA:2471 |
| Ciliary Dyskinesia, Primary, 12 |
|
Ciliary dyskinesia |
OMIM:612650 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
| Ck Syndrome |
|
Retrognathia, Dental crowding, Scoliosis, Hyperlordosis, High palate, Kyphosis, Micrognathia, Mal... |
OMIM:300831 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Bifid uvula, Everted lower lip vermilion, Kyphosis |
OMIM:617768 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Short philtrum, Delayed eruption of teeth, Premature loss of teeth, ... |
ORPHA:137834 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Cleft palate |
ORPHA:85317 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Cdkl5-Deficiency Disorder |
|
Scoliosis, Everted lower lip vermilion, Kyphosis, Thick vermilion border, Deep philtrum |
ORPHA:505652 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, Gingival overgrowth, High palate, Kyphosis, Bifid uvula, Wide nasal br... |
OMIM:618658 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Abnormality of the dentition, Kyphosis |
ORPHA:1548 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Narrow mouth, Kyphosis |
OMIM:620007 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Orofacial cleft, Kyphosis, Incomplete cleft of the upper lip, Micrognathia, Wide nasal bridge, De... |
ORPHA:77300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal palate morphology, Scoliosis, Open bite, Vertebral segmentation defect, Kyphosis, Cariou... |
ORPHA:2617 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Scoliosis, High palate, Kyphosis, Hypoplasia of the maxilla |
OMIM:300676 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Scoliosis, Dentinogenesis imperfecta, Kyphosis |
OMIM:259440 |
| Ciliary Dyskinesia, Primary, 15 |
|
Ciliary dyskinesia |
OMIM:613808 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Malar flattening, Irregular vertebral endplat... |
OMIM:184100 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short philtrum, Scoliosis, Narrow mouth, Kyphosis, Micrognathia, Wide mouth, Thick vermilion bord... |
OMIM:615834 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Thoracolumbar scoliosis, Wide nasal bridge, Kyphosis |
OMIM:313420 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Scoliosis, Prominent median palatal raphe, Exaggerated median tongue f... |
OMIM:300602 |
| Alpha-Mannosidosis |
|
Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Gingival overgrowth, Open bite, Ma... |
ORPHA:61 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Scoliosis, Mandibular prognathia, Kyphosis |
OMIM:300861 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, Scoliosis, High palate, Kyphosis, Micrognathia, Short neck |
OMIM:611890 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Mandibular prognathia, ... |
ORPHA:2916 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Zimmermann-Laband Syndrome 2 |
|
Gingival overgrowth, Kyphosis, Thick vermilion border, Short neck, Macroglossia, Deep philtrum |
OMIM:616455 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Mandi... |
OMIM:253000 |
| Pycnodysostosis |
|
Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Scoliosis, Persistence o... |
OMIM:265800 |
| Ciliary Dyskinesia, Primary, 1 |
|
Ciliary dyskinesia, Immotile cilia |
OMIM:244400 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Hypomelanosis Of Ito |
|
Scoliosis, Irregularly spaced teeth, Thick lower lip vermilion, Kyphosis |
OMIM:300337 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... |
ORPHA:199306 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Scoliosis, Kyphosis |
ORPHA:1883 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, High palate, Kyphosis |
ORPHA:178148 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Abnormal dental morphology, Micrognathia, Shor... |
ORPHA:2522 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Short philtrum, Scoliosis, Narrow mouth, Kyphosis, Micrognathia, Wide nasal bridge |
ORPHA:352490 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Thin vermilion border, Short nose, Spina bifida occulta, Short philtrum, Kyphosis, Downturned cor... |
ORPHA:2983 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Scoliosis, Kyphosis |
OMIM:619797 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Thin vermilion border, Spinal rigidity, Abnormal intervertebral disk morphology, Short philtrum, ... |
ORPHA:2062 |
| Ullrich Congenital Muscular Dystrophy |
|
Abnormal palate morphology, Spinal rigidity, Scoliosis, Kyphosis, Micrognathia, Short neck |
ORPHA:75840 |
| Crisponi Syndrome |
|
Scoliosis, Narrow mouth, High palate, Kyphosis, Micrognathia, Long philtrum |
ORPHA:1545 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis |
OMIM:301900 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Scoliosis, Kyphosis |
ORPHA:816 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... |
ORPHA:2635 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Kyphosis, Micrognathia, Abnormality of the cervical spine, Malar prominence |
ORPHA:48431 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Abnormality of the d... |
ORPHA:582 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow palate, Retrognathia, Short nose, Short philtrum, Hypodontia, Scoliosis, Thoracic kyphosis... |
OMIM:620250 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Non-midline cleft of the upper lip, Scoliosis, Kyphosis, Downturn... |
ORPHA:236 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Microdontia, Kyphosis, Bifid uvula, Tongue nodules, Bifid tongue |
OMIM:258850 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Dysostosis, Stanescu Type |
|
Abnormal palate morphology, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Abnormal... |
ORPHA:1798 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Short nose, Mandibular prognathia, Scoliosis, Everted lower lip vermilion, Kyphosis, Tented upper... |
ORPHA:261144 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:615290 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Dentinogenesis Imperfecta 1 |
|
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, High, narrow palate, Kyphosis |
ORPHA:2181 |
| Bruck Syndrome 1 |
|
Vertebral wedging, Scoliosis, Abnormality of the dentition, Kyphosis, Platyspondyly |
OMIM:259450 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Scoliosis, High, narrow palate, Kyphosis |
OMIM:618124 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Cleft palate, Smooth philtrum,... |
ORPHA:261190 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal form of the vertebral bodies, High palate, Kyphosis, Micrognathia, Cleft palate, Short neck |
ORPHA:3098 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
| Harrod Syndrome |
|
Long nose, Scoliosis, Narrow mouth, High palate, Kyphosis, Dental malocclusion |
ORPHA:2115 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Kyphosis |
OMIM:619040 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... |
OMIM:313400 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Malar flattening, Kyphosis |
OMIM:130060 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Kyphosis |
OMIM:230650 |
| Brachyolmia Type 3 |
|
Platyspondyly, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
| Pycnodysostosis |
|
Spondylolysis, Spondylolisthesis, Obtuse angle of mandible, Scoliosis, Hyperlordosis, High palate... |
ORPHA:763 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... |
ORPHA:2050 |
| Wieacker-Wolff Syndrome |
|
Retrognathia, Broad alveolar ridges, Scoliosis, Hyperlordosis, High palate, Kyphosis, Micrognathi... |
OMIM:314580 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, High palate, Kyphosis |
OMIM:255200 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| 4Q21 Microdeletion Syndrome |
|
Thin vermilion border, Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Downtur... |
ORPHA:238750 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis |
OMIM:618234 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Kyphosis, Microdontia, Micrognathia, Short neck |
ORPHA:3191 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Carious teeth, Scoliosis |
OMIM:126550 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Kyphosis |
OMIM:619255 |
| Stickler Syndrome, Type I |
|
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Microgna... |
OMIM:108300 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, Short nose, Short philtrum, Dental crowding, Oligodontia, Scoliosis, High palate, K... |
OMIM:617061 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Sacral dimple, Kyphosis |
OMIM:618272 |
| Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Mandibular prognathia, Scoliosis, Kyphosis, Enamel hypoplasia, A... |
ORPHA:90322 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Scoliosis, Kyphosis, Abnormal oral frenulum morphology, Downturned corners of mouth, Bifid uvula,... |
ORPHA:404440 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Widely spaced teeth, Mandibular prognathia, Hyperlordosis, Scoliosis, Kyphosis, C... |
OMIM:253010 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Scoliosis, Kyphosis, Microdontia, Diastema |
OMIM:619718 |
| Ruvalcaba Syndrome |
|
Thin vermilion border, Short nose, Abnormal vertebral epiphysis morphology, Dental crowding, Scol... |
ORPHA:3121 |
| Craniolenticulosutural Dysplasia |
|
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, High palate... |
ORPHA:50814 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Macroglossia, Kyphosis |
OMIM:151800 |
| Ruvalcaba Syndrome |
|
Dental crowding, Scoliosis, Kyphosis |
OMIM:180870 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
| Familial Osteodysplasia, Anderson Type |
|
Long nose, Abnormal zygomatic bone morphology, Tooth malposition, Abnormal form of the vertebral ... |
ORPHA:2769 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Kyphosis, Short neck, Atlantoaxial instability, Pierre-Robin sequence, Bifid uvula, Cl... |
OMIM:183900 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Retrognathia, Scoliosis, Everted lower lip vermilion, Kyphosis, Thick vermilion b... |
OMIM:300280 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft of the upper lip, Scoliosis, Kyphosis, Downturned corners of mouth, Cleft palat... |
ORPHA:2075 |
| Flynn-Aird Syndrome |
|
Carious teeth, Scoliosis, Kyphosis |
ORPHA:2047 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:618484 |
| Metatropic Dysplasia |
|
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Anisospondyly, ... |
OMIM:156530 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, High, narrow palate, Scoliosis, Hyperlordosis, Kyphosis, Micrognathia |
ORPHA:536516 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Short philtrum, Mandibular prognathia, Scoliosis, Short upper lip, Kyphosis, Thick... |
ORPHA:364028 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Macroglossia, Vertebral fusion |
OMIM:606612 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Macroglossia, Vertebral fusion |
OMIM:607155 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplastic facial bo... |
OMIM:607326 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Orofacial cleft, Scoliosis, Macroglossia, Kyphosis |
ORPHA:79107 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Kyphosis, Biconcave vertebral bodies, Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Thin vermilion border, Long nose, Short nose, Dental crowding, Scoliosis, High palate, Kyphosis, ... |
OMIM:617602 |
| Craniometadiaphyseal Dysplasia |
|
Dental crowding, Mandibular prognathia, Scoliosis, High palate, Microdontia, Carious teeth, Natal... |
OMIM:269300 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Dentinogenesis imperfecta, Kyphosis |
OMIM:166220 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Spinal rigidity, Cervical instability, Scoliosis, Glossoptosis, Abnormally ossified vertebrae, Ky... |
ORPHA:94068 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, High palate, Short philtrum |
OMIM:615433 |
| Fountain Syndrome |
|
Abnormal palate morphology, Thick lower lip vermilion, Craniofacial hyperostosis, Abnormal form o... |
ORPHA:3219 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Dental cro... |
ORPHA:2789 |
| Desbuquois Dysplasia 1 |
|
Short nose, Platyspondyly, Scoliosis, Hyperlordosis, Narrow mouth, Kyphosis, Malar flattening, Mi... |
OMIM:251450 |
| Schaaf-Yang Syndrome |
|
Retrognathia, Abnormality of the philtrum, Mandibular prognathia, Scoliosis, Kyphosis, Open mouth |
OMIM:615547 |
| Koolen-De Vries Syndrome |
|
Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Scoliosis, Vertebral segme... |
ORPHA:96169 |
| 3M Syndrome |
|
Increased vertebral height, Delayed eruption of teeth, Abnormal dental enamel morphology, Scolios... |
ORPHA:2616 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Scoliosis, Narrow mouth, Kyphosis, Micrognathia |
OMIM:615381 |
| Bruck Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis |
ORPHA:2771 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short philtrum, Hypodontia, Scoliosis, Hyperlordosis, High palate, Narrow mouth, Kyphosis, Thorac... |
OMIM:618443 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Mandibular prognathia, Kyphosis |
OMIM:609008 |
| Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Micrognathia, Cleft palate, Hypoplast... |
ORPHA:628 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Scoliosis, Downturned corners of mouth, Kyphosis |
ORPHA:464282 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal palate morphology, Mandibular prognathia, Kyphosis, Micrognathia, Short neck |
ORPHA:3082 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
| Sialidosis Type 1 |
|
Thick lower lip vermilion, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Wide nasal... |
ORPHA:812 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Scoliosis, Kyphosis, Downturned corners of mouth, Cleft palate, Microretrognathia, Long philtrum,... |
OMIM:301041 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... |
ORPHA:192 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy |
OMIM:615084 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Urban-Rogers-Meyer Syndrome |
|
Short neck, Abnormality of the philtrum, Micrognathia, Kyphosis |
ORPHA:3409 |
| Typical Nemaline Myopathy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, High palate, Kyphosis, Micrognathia, Short neck |
ORPHA:171436 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Thick lower lip vermilion, Mandibular prognathia, Kyphosis, Wide mouth, Macroglossia |
OMIM:300354 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:614409 |
| Trisomy 20P |
|
Abnormal palate morphology, Thin vermilion border, Short nose, Short philtrum, Abnormal form of t... |
ORPHA:261318 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short nose, Sacral dimple, Triangular mouth, Dental malocclusion, Gingival overgrowth, Scoliosis,... |
OMIM:616894 |
| 15Q24 Microdeletion Syndrome |
|
Abnormal palate morphology, Thick lower lip vermilion, Scoliosis, Narrow mouth, Abnormality of th... |
ORPHA:94065 |
| Megalocornea-Intellectual Disability Syndrome |
|
Short philtrum, Scoliosis, High palate, Everted lower lip vermilion, Kyphosis, Micrognathia, Open... |
ORPHA:2479 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance |
OMIM:615067 |
| Congenital Myopathy 22A, Classic |
|
Spinal rigidity, Dental crowding, Scoliosis, High palate, Kyphosis, Micrognathia, Open mouth, Tho... |
OMIM:620351 |
| Acro-Renal-Mandibular Syndrome |
|
Orofacial cleft, Butterfly vertebrae, Short philtrum, Scoliosis, Hemivertebrae, High palate, Kyph... |
ORPHA:958 |
| Cleidocranial Dysplasia 1 |
|
Narrow palate, Supernumerary tooth, High, narrow palate, Spondylolysis, Spondylolisthesis, Absent... |
OMIM:119600 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Short nose, Thick lower lip vermilion, Absent frontal sinuses, Mandibular prognat... |
OMIM:301040 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis |
ORPHA:3085 |
| Arthrogryposis, Distal, Type 5 |
|
Scoliosis, High palate, Kyphosis |
OMIM:108145 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Kyphosis, Dentinogenesis imperfecta, Microretrognathia, Platyspondyly |
OMIM:616294 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Emanuel Syndrome |
|
Sacral dimple, Broad jaw, Dental crowding, Scoliosis, High palate, Kyphosis, Micrognathia, Recurr... |
OMIM:609029 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... |
ORPHA:93314 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Micrognathia |
OMIM:618291 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short nose, Dental crowding, Eruption failure, Scoliosis, High palate, Abnormality of the dentiti... |
ORPHA:476126 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy |
ORPHA:352447 |
| Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Alg1-Cdg |
|
Scoliosis, Kyphosis |
ORPHA:79327 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Kyphosis, Wide mouth, Long philtrum, Short neck |
OMIM:608776 |
| Becker Nevus Syndrome |
|
Scoliosis, Kyphosis, Spina bifida occulta |
ORPHA:64755 |
| Micro Syndrome |
|
Short nose, Short philtrum, Scoliosis, High palate, Kyphosis, Micrognathia, Wide nasal bridge |
ORPHA:2510 |
| 3C Syndrome |
|
Orofacial cleft, High, narrow palate, Short nose, Scoliosis, Hemivertebrae, Kyphosis, Micrognathi... |
ORPHA:7 |
| Basilar Impression, Primary |
|
Craniofacial asymmetry, Short neck, Kyphoscoliosis |
OMIM:109500 |
| Pelger-Huet Anomaly |
|
Gingival overgrowth, Kyphosis, Abnormality of the dentition, Median cleft palate |
OMIM:169400 |
| Trisomy 13 |
|
High, narrow palate, Scoliosis, Abnormality of the dentition, Kyphosis, Cleft palate, Malar flatt... |
ORPHA:3378 |
| Sialidosis Type 2 |
|
Kyphosis |
ORPHA:87876 |
| Mucopolysaccharidosis Type 6 |
|
Thick lower lip vermilion, Kyphosis, Sinusitis, Ovoid vertebral bodies, Short neck, Macroglossia |
ORPHA:583 |
| Marden-Walker Syndrome |
|
High, narrow palate, Scoliosis, Narrow mouth, High palate, Kyphosis, Micrognathia, Cleft palate, ... |
OMIM:248700 |
| Cowden Syndrome 5 |
|
Scoliosis, Narrow mouth, High palate, Furrowed tongue, Kyphosis, Hypoplasia of the maxilla, Micro... |
OMIM:615108 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Scoliosis, High palate, Kyphosis, Biconcave vertebral bodies, Micrognathia, Clef... |
OMIM:130720 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Advanced eruption of teeth, Broad alveolar ridges, Scoliosis, Exaggerated cupid's bow, Narrow mou... |
ORPHA:2215 |
| Microphthalmia, Lenz Type |
|
Orofacial cleft, Delayed eruption of teeth, Scoliosis, Hyperlordosis, Abnormality of the dentitio... |
ORPHA:568 |
| Autosomal Recessive Robinow Syndrome |
|
Kyphosis, Wide mouth, Long philtrum, Sacral dimple, Short philtrum, Scoliosis, Exaggerated cupid'... |
ORPHA:1507 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Short philtrum, Scoliosis, High palate, Furrowed tongue, Everted lower lip vermilio... |
OMIM:616449 |
| Mucolipidosis Iii Gamma |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:252605 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Kyphosis |
OMIM:609541 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Gingival overgrowth, Scoliosis, Abnormality of the dentition... |
ORPHA:193 |
| Mosaic Trisomy 20 |
|
Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... |
ORPHA:1724 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Narrow mouth, Kyphosis |
ORPHA:261222 |
| Cowden Syndrome 6 |
|
Scoliosis, Narrow mouth, High palate, Furrowed tongue, Kyphosis, Hypoplasia of the maxilla, Micro... |
OMIM:615109 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Kyphosis |
ORPHA:1005 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Short philtrum, High palate, Kyphosis, Tented upper lip vermilion, Long philtrum, Thin upper lip ... |
OMIM:619244 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Scoliosis, High palate, Kyphosis, Spinal rigidity |
OMIM:254090 |
| 16Q24.3 Microdeletion Syndrome |
|
Solitary median maxillary central incisor, Scoliosis, High palate, Kyphosis, Micrognathia, Wide m... |
ORPHA:261250 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Scoliosis, Gingival overgrowth, Kyphosis, Hypoplastic vertebral bodi... |
OMIM:230500 |
| 19P13.12 Microdeletion Syndrome |
|
Thin vermilion border, Hypodontia, Scoliosis, Kyphosis, Cleft palate, Long philtrum, Short neck |
ORPHA:254346 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Microretrognathia |
OMIM:619909 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long nose, Short nose, Thoracolumbar kyphosis, Sacral dimple, Cervical spinal canal stenosis, Cer... |
ORPHA:508533 |
| Arthrogryposis, Distal, Type 4 |
|
Lumbar scoliosis, Scoliosis, Kyphosis |
OMIM:609128 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology |
ORPHA:2655 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Short philtrum, Scoliosis, Kyphosis, Micrognathia, Deep philtrum |
OMIM:619951 |
| Hurler-Scheie Syndrome |
|
Scoliosis, Micrognathia, Thick vermilion border, Kyphosis |
OMIM:607015 |
| Shashi-Pena Syndrome |
|
Retrognathia, Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Thin upper lip vermilion |
OMIM:617190 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Short philtrum, High palate, Kyphosis, Micrognathia, Malar flattening |
OMIM:609944 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, M... |
OMIM:603546 |
| Atypical Rett Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3095 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology, Kyphosis, Abnormal dental morpholo... |
ORPHA:85199 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:181405 |
| Mucopolysaccharidosis, Type Vii |
|
Widely spaced teeth, Anterior beaking of lumbar vertebrae, Platyspondyly, Gingival overgrowth, Sc... |
OMIM:253220 |
| Jaberi-Elahi Syndrome |
|
Short nose, Scoliosis, Kyphosis, Triangular mouth |
OMIM:617988 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Thick lower lip vermilion, Short philtrum, Scoliosis, Open bite, High palate, Kyphosis, Wide mout... |
ORPHA:85293 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T... |
ORPHA:93360 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Short neck |
ORPHA:98863 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:128100 |
| Rett Syndrome |
|
Scoliosis, Abnormality of the dentition, Kyphosis |
OMIM:312750 |
| Srd5A3-Cdg |
|
Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain |
ORPHA:98855 |
| Monosomy 9Q22.3 |
|
Orofacial cleft, Short nose, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, Abnor... |
ORPHA:77301 |
| Fliedner-Zweier Syndrome |
|
Long philtrum, Scoliosis, High palate, Kyphosis |
OMIM:620511 |
| Achondroplasia |
|
Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h... |
ORPHA:15 |
| Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Scoliosis, Mandibular prognathia, Thoracic kyphosis, Kyphosis, Hypop... |
OMIM:223800 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Abnormal form of the vertebral bodies, Gingival overgrowth, Mandibular prognathia,... |
ORPHA:354 |
| Hurler Syndrome |
|
Gingival overgrowth, Kyphosis, Microdontia, Biconcave vertebral bodies, Short neck, Hypoplasia of... |
OMIM:607014 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia... |
OMIM:177170 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Scoliosis, Downturned corners of mouth, Thin upper lip vermilion, Kyphosis |
OMIM:619557 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Retrognathia, Long nose, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Broad philtrum, Sh... |
OMIM:620450 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:617821 |
| Stickler Syndrome |
|
Spondylolisthesis, Abnormal form of the vertebral bodies, Glossoptosis, Kyphosis, Tooth agenesis,... |
ORPHA:828 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Kyphosis |
ORPHA:93274 |
| Mucopolysaccharidosis, Type Ii |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Kyphosis, Short neck, ... |
OMIM:309900 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Kyphosis |
OMIM:617143 |
| Marinesco-Sjogren Syndrome |
|
Scoliosis, Kyphosis |
OMIM:248800 |
| Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain |
ORPHA:98853 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Abnormality of the dentition, Kyphosis |
ORPHA:349 |
| 2P15P16.1 Microdeletion Syndrome |
|
Retrognathia, Scoliosis, Narrow mouth, High palate, Everted lower lip vermilion, Kyphosis, Smooth... |
ORPHA:261349 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, High, narrow palate, High palate, Kyphosis |
OMIM:177850 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Widely spaced teeth, Kyphosis |
OMIM:300942 |
| Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Scoliosis, Kyphosis |
OMIM:266270 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cleft lip, Cleft palate, Micrognathia |
OMIM:619123 |
| Koolen-De Vries Syndrome |
|
Narrow palate, Widely spaced teeth, Sacral dimple, Spondylolisthesis, Scoliosis, High palate, Eve... |
OMIM:610443 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Anterior clefting of vertebral bodies, Fused cervical vertebrae, Triangular mouth, Scoliosis, Hig... |
OMIM:265000 |
| Cowden Syndrome 1 |
|
Scoliosis, Narrow mouth, High palate, Furrowed tongue, Kyphosis, Hypoplasia of the maxilla, Micro... |
OMIM:158350 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis, Open mouth |
ORPHA:97349 |
| Hajdu-Cheney Syndrome |
|
Thin vermilion border, Periodontitis, Absent frontal sinuses, Scoliosis, Open bite, Narrow mouth,... |
ORPHA:955 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Short nose, Dental crowding, Scoliosis, High palate, Kyphosis, Micrognathia, Thick vermilion border |
OMIM:619005 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, High palate, Kyphosis, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Lon... |
OMIM:617527 |
| Osteogenesis Imperfecta, Type Viii |
|
Vertebral compression fracture, Scoliosis, Kyphosis, Dentinogenesis imperfecta, Platyspondyly |
OMIM:610915 |
| Shprintzen Omphalocele Syndrome |
|
Thin vermilion border, Scoliosis, Kyphosis, Wide nasal bridge, Lumbar hyperlordosis |
OMIM:182210 |
| Mucolipidosis Iii Alpha/Beta |
|
Scoliosis, Mandibular prognathia, Spondylolisthesis, Kyphosis |
OMIM:252600 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Short nose, High palate, Kyphosis, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Lon... |
ORPHA:521426 |
| Spondyloperipheral Dysplasia |
|
Kyphosis, Ovoid vertebral bodies, Malar flattening, Irregular vertebral endplates, Platyspondyly,... |
OMIM:271700 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Retrognathia, Kyphoscoliosis, Short nose, Atlantoaxial dislocation, Short ... |
OMIM:602535 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Retrognathia, Thin lower lip vermilion, Scoliosis, Microdontia, Kyphosis, Deep philtrum, Wide mou... |
OMIM:619194 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High, narrow palate, Short philtrum, Mandibular prognathia, Exaggerated cupid's bow... |
ORPHA:464738 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Scoliosis, Mandibular prognathia, Thick vermilion border, Kyphosis |
OMIM:618493 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Tented upper lip vermilion, Platyspondyly, Craniofacial osteo... |
OMIM:618476 |
| 2Q31.1 Microdeletion Syndrome |
|
Thin vermilion border, Scoliosis, Vertebral segmentation defect, Everted lower lip vermilion, Kyp... |
ORPHA:251014 |
| Schwartz-Jampel Syndrome |
|
Supernumerary tooth, Spinal rigidity, Platyspondyly, Scoliosis, Hyperlordosis, Narrow mouth, Ever... |
ORPHA:800 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Narrow palate, Kyphoscoliosis, Sacral dimple, Periodontitis, Tooth malposition, Premature loss of... |
ORPHA:536532 |
| Pelizaeus-Merzbacher Disease |
|
Scoliosis, Kyphosis |
ORPHA:702 |
| Distal Triplication 15Q |
|
Retrognathia, Scoliosis, High palate, Kyphosis, Micrognathia |
ORPHA:314588 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Scoliosis, Kyphosis, Micrognathia, Cleft palate, Short neck |
ORPHA:140 |
| Noonan Syndrome 14 |
|
High, narrow palate, Kyphosis, Wide mouth, Thick vermilion border, Long philtrum, Short neck |
OMIM:619745 |
| Cono-Spondylar Dysplasia |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:420794 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Thick lower lip vermilion, Scoliosis, Hyperlordosis, High palate, Kyphosis |
OMIM:162300 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Broad alveolar ridges, Gingival overgrowth, High palate, Kyphosis, Micrognathia, ... |
OMIM:249420 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Kyphosis, Tongue atrophy |
OMIM:211530 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Sacroiliac arthritis, Kyphosis |
OMIM:106300 |
| Atelis Syndrome 2 |
|
Thick lower lip vermilion, Sacral dimple, High palate, Kyphosis, Downturned corners of mouth, Mic... |
OMIM:620185 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
High, narrow palate, Sacral dimple, Prominent protruding coccyx, Prominent coccyx, Scoliosis, Kyp... |
OMIM:300966 |
| Holt-Oram Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:392 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Sacral dimple, Short philtrum, Abnormal form of the vertebral bodi... |
ORPHA:280 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:88628 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology |
ORPHA:1860 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Dental malocclusion, Kyphosis, Delayed eruption of teeth |
ORPHA:1855 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesis, Long philtrum,... |
ORPHA:534 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Narrow palate, Scoliosis, Hemivertebrae, Kyphosis, Cleft palate, Short neck, Cleft lip |
OMIM:618223 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Kyphosis |
ORPHA:88644 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Short nose, Thick lower lip vermilion, Widely spaced teeth, Lumbar kyphosis, Mandi... |
OMIM:303600 |
| Smith-Lemli-Opitz Syndrome |
|
Supernumerary tooth, Advanced eruption of teeth, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:818 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Hyperlordosis, High palate, Scoliosis, Kyphosis, Malar flattening |
OMIM:617011 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Widely spaced teeth, Intervertebral space narrowing, Delayed eruption of teeth, S... |
OMIM:143095 |
| Cdags Syndrome |
|
Cleft palate, Malar flattening, Kyphosis |
OMIM:603116 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Thick lower lip vermilion, Short philtrum, Dental crowding, Mandibular prognathia... |
ORPHA:3063 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Scoliosis, Kyphosis |
ORPHA:1969 |
| Zttk Syndrome |
|
Thin vermilion border, Short nose, Short philtrum, Scoliosis, Hemivertebrae, High palate, Abnorma... |
OMIM:617140 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Scolio... |
OMIM:300967 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Abnormal dental enamel morphology, Mandibular prognathia, Scoliosis, Kyphosi... |
ORPHA:2658 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Vertebral compression fracture, Kyphosis |
OMIM:219090 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, High, narrow palate, High palate, Kyphosis |
OMIM:616914 |
| Rett Syndrome, Congenital Variant |
|
Scoliosis, Thin upper lip vermilion, Kyphosis |
OMIM:613454 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol... |
OMIM:618019 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Scoliosis, Narrow mouth, High palate, Kyphosis, Thin upper lip vermilion |
OMIM:618050 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Kyphosis |
OMIM:153400 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Lumbar hyperlordosis, Kyphosis |
OMIM:616482 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Weaver Syndrome |
|
Retrognathia, Mandibular prognathia, Scoliosis, Kyphosis, Long philtrum |
OMIM:277590 |
| Cerebrocostomandibular Syndrome |
|
Short hard palate, Glossoptosis, Kyphosis, Micrognathia, Cleft palate |
ORPHA:1393 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Premature loss of teeth, Kyphosis |
OMIM:239000 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ... |
OMIM:259770 |
| Marden-Walker Syndrome |
|
Retrognathia, Abnormal form of the vertebral bodies, Scoliosis, Narrow mouth, Kyphosis, Micrognat... |
ORPHA:2461 |
| Alkaptonuria |
|
Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion |
OMIM:203500 |
| Mgat2-Cdg |
|
Dental crowding, Scoliosis, Kyphosis, Open mouth |
ORPHA:79329 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Kyphosi... |
ORPHA:1328 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Scoliosis, High palate, Microdontia, Kyphosis, Carious teeth, Microret... |
OMIM:278250 |
| Osteogenesis Imperfecta |
|
Vertebral compression fracture, Delayed eruption of teeth, Abnormality of dental color, Abnormal ... |
ORPHA:666 |
| Alexander Disease |
|
Scoliosis, Hyperlordosis, High palate, Kyphosis, Short neck |
ORPHA:58 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Absent uvula |
OMIM:619708 |
| Prader-Willi Syndrome |
|
Scoliosis, Kyphosis, Carious teeth, Downturned corners of mouth, Thin upper lip vermilion |
OMIM:176270 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Kyphosis, Hypoplasia of teeth, Carious teeth, Enamel hypoplasia, Dental ma... |
OMIM:216400 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:500055 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal palate morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior... |
ORPHA:3042 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Dental crowding, Scoliosis, High palate, Kyphosis |
ORPHA:394 |
| Mend Syndrome |
|
Sacral dimple, High palate, Kyphosis, Micrognathia, Smooth philtrum, Microretrognathia |
OMIM:300960 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Thick lower lip vermilion, Spondylolysis, Spondylolisthesis, Scolios... |
OMIM:208400 |
| Mend Syndrome |
|
Sacral dimple, High palate, Kyphosis, Asymmetry of the mouth, Micrognathia, Cleft palate |
ORPHA:401973 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Scoliosis, Downturned corners of mouth, Thin upper lip vermilion, Kyphosis |
ORPHA:398069 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphoscoliosis, Mandibular prognathia, High palate, Kyphosis, Malar flattening, Lumbar hyperlordosis |
ORPHA:457359 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Kyphosis, Hypoplasia of teeth, Carious teeth, Dental malocclusion, Delayed... |
OMIM:133540 |
| Wolf-Hirschhorn Syndrome |
|
Orofacial cleft, Sacral dimple, Short philtrum, Abnormal form of the vertebral bodies, Hypodontia... |
OMIM:194190 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Kyphosis |
OMIM:212065 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:301111 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Evert... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Evert... |
ORPHA:363958 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Supernumerary tooth, Retrognathia, Widely spaced teeth, Short nose, Sacral dimple, Cleft soft pal... |
ORPHA:268261 |
| Cockayne Syndrome |
|
Scoliosis, Kyphosis, Abnormal dental morphology, Enamel hypoplasia, Carious teeth, Dental maloccl... |
ORPHA:191 |
| Marfan Syndrome |
|
Retrognathia, High, narrow palate, Abnormal zygomatic bone morphology, Spondylolisthesis, Dental ... |
ORPHA:558 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, High, narrow palate, Short uvula, Short philtrum, Scoliosis, High palate, Ankylogloss... |
OMIM:619475 |
| Acromegaly |
|
Thick lower lip vermilion, Widely spaced teeth, Broad jaw, Mandibular prognathia, Abnormality of ... |
ORPHA:963 |
| Somatomammotropinoma |
|
Thick lower lip vermilion, Widely spaced teeth, Broad jaw, Mandibular prognathia, Abnormality of ... |
ORPHA:314769 |
| Alstrom Syndrome |
|
Scoliosis, Gingivitis, Abnormality of the dentition, Kyphosis |
OMIM:203800 |
| Williams Syndrome |
|
Abnormal form of the vertebral bodies, Hyperlordosis, Everted lower lip vermilion, Microdontia, K... |
ORPHA:904 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Carious teeth, Scoliosis, Kyphosis |
ORPHA:90324 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Thin upper lip vermilion, Kyphosis |
ORPHA:2232 |
| Coffin-Siris Syndrome 1 |
|
Retrognathia, Thick lower lip vermilion, Sacral dimple, Short philtrum, Delayed eruption of teeth... |
OMIM:135900 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Scoliosis, Abnormality of the cervical spine, Kyphosis |
ORPHA:464311 |
| Occipital Horn Syndrome |
|
Long philtrum, Platyspondyly, High palate, Kyphosis |
OMIM:304150 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Scoliosis, Abnormality of the cervical spine, Kyphosis |
ORPHA:464306 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
| Cowden Syndrome |
|
Scoliosis, High palate, Furrowed tongue, Kyphosis, Macroglossia |
ORPHA:201 |
| Poland Syndrome |
|
Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyphosis, Short neck |
ORPHA:2911 |
| Mucolipidosis Type Ii |
|
Gingival overgrowth, Kyphosis |
ORPHA:576 |
| Occipital Horn Syndrome |
|
High, narrow palate, Platyspondyly, Scoliosis, Kyphosis, Long philtrum |
ORPHA:198 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Kyphosis, Anterior wedging of T12, Hypoplasia of the maxilla, Hypoplasia of the odontoid process,... |
OMIM:300106 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
| 1P36 Deletion Syndrome |
|
Scoliosis, Narrow mouth, Kyphosis, Spinal canal stenosis, Long philtrum, Wide nasal bridge |
ORPHA:1606 |
| Primrose Syndrome |
|
Thick lower lip vermilion, Increased size of the mandible, Narrow mouth, High palate, Kyphosis, H... |
OMIM:259050 |
| Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Enamel hypoplasia, Scoliosis, Kyphosis |
OMIM:309000 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Retrognathia, High, narrow palate, Scoliosis, High palate, Abnormality of the dentition, Kyphosis... |
ORPHA:99413 |
| Turner Syndrome |
|
Retrognathia, High, narrow palate, Scoliosis, High palate, Abnormality of the dentition, Kyphosis... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Retrognathia, High, narrow palate, Scoliosis, High palate, Abnormality of the dentition, Kyphosis... |
ORPHA:99228 |
| Monosomy X |
|
Retrognathia, High, narrow palate, Scoliosis, High palate, Abnormality of the dentition, Kyphosis... |
ORPHA:99226 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cheilitis, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal dental en... |
ORPHA:2273 |
| Branchiooculofacial Syndrome |
|
Hyperlordosis, Abnormality of the dentition, Kyphosis, Cleft of chin, Cleft upper lip, Micrognath... |
OMIM:113620 |
| Viss Syndrome |
|
Retrognathia, High, narrow palate, Butterfly vertebrae, Cleft soft palate, Scoliosis, High palate... |
OMIM:619472 |
| Proteus Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Kyphosis, To... |
ORPHA:744 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Abnormality of the dentition, Kyphosis, Hypodontia, Del... |
ORPHA:821 |
| 17Q11 Microdeletion Syndrome |
|
Abnormality of the sphenoid sinus, Beaking of vertebral bodies T12-L3, Abnormality of the vertebr... |
ORPHA:97685 |
| Neurofibromatosis Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:636 |
| Yunis-Varon Syndrome |
|
Thin vermilion border, Short philtrum, Broad alveolar ridges, High palate, Short upper lip, Kypho... |
OMIM:216340 |
| Alström Syndrome |
|
Abnormality of dental color, Gingivitis, Kyphosis, Tooth agenesis, Lumbar scoliosis, Recurrent si... |
ORPHA:64 |
