Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum, Radioulnar synostosis |
ORPHA:3268 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Dystonia 31 |
|
Leg dystonia, Craniofacial dystonia, Writer's cramp, Generalized dystonia, Arm dystonia, Abnormal... |
OMIM:619565 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of f... |
ORPHA:2635 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... |
ORPHA:1801 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Kyphosis, Oromandibular dystonia, Multiple joint contractures, Blepharospasm, Scolio... |
OMIM:128100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome... |
OMIM:614857 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Intention tremor, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypers... |
OMIM:610539 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial o... |
OMIM:259440 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Joint stiffness, Premature graying of hair, Pectus excavatum... |
ORPHA:1979 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morpholog... |
ORPHA:93160 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Short ribs, ... |
OMIM:156530 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... |
ORPHA:2180 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... |
OMIM:611209 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Mosaic Trisomy 14 |
|
Narrow chest, Failure to thrive, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... |
OMIM:600081 |
Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Hypermelanotic macule, Lipoatrophy, Scoliosis, Spina bifi... |
ORPHA:64755 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, O... |
ORPHA:93267 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... |
ORPHA:2522 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Scol... |
OMIM:187760 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies, Abnormal rib... |
ORPHA:2234 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma |
OMIM:107550 |
Axial Spondylometaphyseal Dysplasia |
|
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... |
ORPHA:168549 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Femoral hernia, Short thorax, Umbilical hernia... |
ORPHA:93298 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Inguinal hernia, Short... |
OMIM:271520 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Scoliosis, ... |
ORPHA:2169 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Increased susceptibility to fractures, Abnormal posturing |
OMIM:304700 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Inguinal hernia, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs,... |
OMIM:619122 |
Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Hypercalcemia, Anem... |
ORPHA:436 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Failure to thrive, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification... |
OMIM:241530 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... |
OMIM:264700 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Congenital diaphragmatic hernia, Inguinal he... |
ORPHA:2311 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Choreoathetosis, Vertebral fusion |
OMIM:221950 |
Salt And Pepper Developmental Regression Syndrome |
|
Failure to thrive, Choreoathetosis, Abnormality of skin pigmentation, Hypermelanotic macule |
OMIM:609056 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Thin ribs, Small for gestational age, Platyspondyly, Bell-shaped thorax, Tho... |
OMIM:166210 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic ... |
OMIM:611590 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptoda... |
ORPHA:628 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Opisthotonus, Pigmentary retinopathy, Increased susceptibility to fractures, Weight loss, Abnorma... |
ORPHA:216866 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Femoral hernia, Short thor... |
ORPHA:93299 |
Infantile Systemic Hyalinosis |
|
Failure to thrive, Joint stiffness, Recurrent fractures, Steatorrhea, Osteopenia, Camptodactyly o... |
ORPHA:2176 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hyp... |
ORPHA:289157 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... |
ORPHA:1486 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Platyspondyly, Short neck, Scolios... |
ORPHA:582 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... |
ORPHA:93351 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophilia, ... |
OMIM:612852 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Hypophosphatemia, Increased circula... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... |
OMIM:616229 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Decreased cervical spine mobility, Anemia, Abnormal posturing |
ORPHA:71272 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofaci... |
OMIM:122860 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
Shwachman-Diamond Syndrome |
|
Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Pancytopenia, Leukemia, Increased me... |
ORPHA:811 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Blue irides, Supernumerary vertebrae, Partial albinism, White eyebrow, White ey... |
OMIM:193500 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnorma... |
ORPHA:2097 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia, Abnormality of the spleen, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Hiatus hernia, Inguinal hernia, Osteopenia, Scoliosis, Osteomalacia, Osteoporosi... |
ORPHA:1901 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Kyphoscoliosis, Short ribs, Mildly elevated creatine kinase, Elbow flexion contr... |
ORPHA:1145 |
Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Reduced bone mineral density, Camptodactyly of finger, Scoliosis... |
ORPHA:1488 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Inguinal hernia, Scoliosis, Radiouln... |
ORPHA:1988 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, White forelock, Joint hyperflexi... |
ORPHA:2475 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis,... |
OMIM:184250 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Prominent sternum, Inguinal hernia, Anterior beaking of lumbar vertebrae, Platyspondyly... |
OMIM:253000 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea |
OMIM:607748 |
Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... |
OMIM:277440 |
Diamond-Blackfan Anemia 7 |
|
Sprengel anomaly, Increased mean corpuscular volume, Osteopenia, Scoliosis, Osteoporosis, Macrocy... |
OMIM:612562 |
3Q29 Microdeletion Syndrome |
|
Failure to thrive, Pectus excavatum, Pectus carinatum, Six lumbar vertebrae, Abnormality of skin ... |
ORPHA:65286 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Camptodactyly of finger, Synostosis of carpal bones, Abnormal rib ... |
ORPHA:1836 |
Huntington Disease-Like 1 |
|
Weight loss, Abnormal shoulder morphology, Abnormal posturing |
ORPHA:157941 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... |
OMIM:615633 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... |
OMIM:151210 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... |
OMIM:609616 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Failure to thrive, Neutropenia, Small for gestational age, Persistence of hemoglobi... |
OMIM:260400 |
Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Scoliosis, Abnormal rib morphology, Anisospondyly, Osteolytic defe... |
ORPHA:2484 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Thin ribs, Short neck, Platyspondyly, Scoliosis, Joint laxity, Obe... |
OMIM:618395 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... |
OMIM:612561 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Multiple rib fractures, Short ribs, Small for gestational age, Osteopenia, P... |
OMIM:616897 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Decreased LDL cho... |
OMIM:618156 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Failure to thrive, Joint stiffness, Splenomegaly, Short neck, Broad ribs, Ovoid vertebr... |
ORPHA:583 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Failure to thrive, Atlantoaxial instability, Horizontal inferior bor... |
ORPHA:239 |
Schneckenbecken Dysplasia |
|
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... |
OMIM:269250 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Scoliosis, Small for gestational age |
OMIM:610883 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Inguinal hernia, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc... |
OMIM:252900 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone minera... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Thin bony cortex... |
OMIM:617952 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... |
ORPHA:2759 |
Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... |
ORPHA:474 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Decreased calvarial ossifica... |
OMIM:259420 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Increased subcutaneous tr... |
ORPHA:2457 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... |
ORPHA:2021 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm |
OMIM:615113 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Prominent sternum, Inguinal hernia, Platyspondyly, Scoliosis, Osteoporosis, Grayish ena... |
OMIM:253010 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Failure to thrive, Osteoporosis, Pigmentary retinopat... |
OMIM:560000 |
Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... |
OMIM:200600 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Lumbar hyperlordosis, Prominent sternum, Asymmetry of the thorax, Narrow vertebral ... |
OMIM:250250 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Abnormality of skin pigmentation, Atrophic scars, Anemia, Scarring alopecia of... |
ORPHA:79402 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea |
OMIM:266510 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... |
ORPHA:79345 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... |
ORPHA:392 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation |
OMIM:237450 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium c... |
OMIM:307800 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid... |
OMIM:252930 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of toe, Camptodactyly of finger, Abnormal bone structu... |
OMIM:300244 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Failure to thrive, Abnormality of retinal pigmentation, Abnormal bone ossification,... |
ORPHA:175 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia, Rickets |
OMIM:607765 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Inguinal hernia, Osteopenia,... |
OMIM:610915 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Flexion contracture, Osteopenia, Lipodystrophy, Abnormality of skin pigmentation,... |
ORPHA:75496 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Increased susceptibili... |
OMIM:146300 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
Free Sialic Acid Storage Disease |
|
Reduced bone mineral density, Splenomegaly, Athetosis, Iris hypopigmentation, Abnormality of skin... |
ORPHA:834 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Decreased HDL cholesterol concentration, Decreased LDL ch... |
OMIM:616834 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Rachitic ... |
ORPHA:157215 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... |
OMIM:224300 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Inguinal hernia, Generalized joint laxity, Os... |
OMIM:613848 |
Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Pectus excavatum, Cachexia, Abnormal rib morphology |
ORPHA:3242 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Pectus excavatum, Scoliosis, Abnormal rib morph... |
ORPHA:2970 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Rickets |
OMIM:602722 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynostosis, Osteo... |
OMIM:616294 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Hyperlor... |
ORPHA:2616 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Rickets |
OMIM:211600 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Short neck, Scoliosis, Abnormal f... |
ORPHA:1834 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Radioulnar synostosis, Abnormal rib morphology |
ORPHA:2319 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Failure to thrive, Flexion contracture, Steatorrhea, Intention tremor, Osteopenia, Trem... |
OMIM:212065 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... |
OMIM:230500 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Scoliosis, Joint laxity |
ORPHA:457260 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Narrow chest, Limitation of joint mobility, Hypopigmentation of th... |
ORPHA:96061 |
Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Prominent sternum, Barrel-shaped che... |
OMIM:223800 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Craniosynostosis, Scoliosis, Chor... |
ORPHA:261197 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Hernia of the abdominal wall, Short neck, Pectus carinatum, Abnormal rib morphology |
ORPHA:3082 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Spinal canal stenosis, Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, In... |
ORPHA:289176 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs |
OMIM:608940 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Thin ribs, Short ribs, Long clavicles, Thin clavicles, Platyspondy... |
OMIM:228520 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Pectus carinatum, Hyperlo... |
OMIM:612921 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... |
OMIM:602196 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Spotty hyperpigmentation, Joint stiffness, Lipoatrophy, Thin ribs, Flexion con... |
OMIM:614008 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Rickets |
ORPHA:89937 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis, Head titubation |
OMIM:614688 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs, Amelo... |
OMIM:610319 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib mor... |
ORPHA:2050 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... |
OMIM:607778 |
Blackfan-Diamond Anemia |
|
Sprengel anomaly, Increased mean corpuscular volume, Neutropenia, Small for gestational age, Pers... |
ORPHA:124 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Monostotic fibrous dysplasia, Hypophosphatemia, Fibrous dysplasia of the bon... |
ORPHA:562 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Short neck, Anterior rib cuppin... |
OMIM:300232 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... |
ORPHA:2876 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
Poland Syndrome |
|
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... |
ORPHA:2911 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis, Abnormal serum ... |
ORPHA:79303 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis |
OMIM:618265 |
Occipital Horn Syndrome |
|
Pectus excavatum, Hiatus hernia, Osteopenia, Platyspondyly, Down-sloping shoulders, Pectus carina... |
ORPHA:198 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Thin ribs, Long clavicles, Thin clavicles, Calvarial osteosclerosis... |
OMIM:244460 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Splenomegaly, Omphalocele, Abnormally ossified vertebrae |
ORPHA:3035 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Hypocalcemia, Steatorrhea, Osteoporosis, Macrocytic anemia, Enamel hypoplasia,... |
OMIM:212750 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Limitation of joint mobility, Craniofac... |
ORPHA:3068 |
Abetalipoproteinemia |
|
Failure to thrive, Kyphoscoliosis, Abnormality of retinal pigmentation, Abnormal circulating apol... |
ORPHA:14 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Broad ribs... |
OMIM:619698 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Loss of truncal subcu... |
ORPHA:2463 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Umb... |
ORPHA:800 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... |
ORPHA:93473 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Vici Syndrome |
|
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... |
OMIM:242840 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, ... |
OMIM:617022 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalac... |
OMIM:227810 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... |
ORPHA:2769 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Reduced bone mineral density, Multiple lipomas, Abnormality of skin... |
ORPHA:1414 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Pectus excavatum, Hypocalcemia, Inguinal hernia, Small for gest... |
OMIM:613658 |
Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... |
ORPHA:1394 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Limited elbow extension, Hyperosto... |
OMIM:604922 |
Multiple Pterygium Syndrome, X-Linked |
|
Flexion contracture, Thin ribs, Abnormal cervical curvature, Increased susceptibility to fracture... |
OMIM:312150 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Thin ribs, Small for gestational age, Elevated circulating creatine kinase c... |
OMIM:615368 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Thin ribs, Thin clavicles, Hypocalcemic... |
ORPHA:93324 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary vertebrae, Pectus excavatum, Radioulnar synostosis |
OMIM:263750 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Osteopenia, Thin ribs, Short ribs |
OMIM:618188 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs |
OMIM:200610 |
Cleidocranial Dysplasia |
|
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... |
ORPHA:1452 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Failure to thrive, Joint contracture of the hand, Camptodactyly of finger, Platyspondyl... |
OMIM:309000 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Hypophosphatemia, Rickets |
OMIM:613388 |
Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... |
ORPHA:3258 |
Trisomy 13 |
|
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology, Hernia |
ORPHA:3378 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis |
ORPHA:2760 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Vertebral arch anomaly, Broad ribs |
ORPHA:85184 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Congenital diaphra... |
ORPHA:958 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Carpal synostosis, Ankle flexion contracture, Craniosynostosis, ... |
OMIM:305620 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Cantú Syndrome |
|
Narrow chest, Platyspondyly, Short neck, Osteoporosis, Broad ribs, Cuboid-shaped vertebral bodies... |
ORPHA:1517 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:73230 |
Osteogenesis Imperfecta |
|
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Umbilical hernia, Abn... |
ORPHA:666 |
Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Thin ribs, Abnormal cervical curvature, Increased susceptibility to fracture... |
OMIM:253290 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Kyphosis, Thrombocytopenia, Scoliosis |
ORPHA:261250 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hand tremor, Splenomegaly, Chondr... |
OMIM:277900 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Inguinal hernia, Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abn... |
OMIM:308205 |
Alg12-Cdg |
|
Failure to thrive, Abnormal bone ossification, Abnormal adipose tissue morphology, Scoliosis, B l... |
ORPHA:79324 |
Cystinosis |
|
Failure to thrive, Hypophosphatemia, Rickets, Hypokalemia |
ORPHA:213 |
Alagille Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Abnormal form of the vertebral bodies, Spina bi... |
ORPHA:52 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches, Foot... |
ORPHA:220402 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Inguinal hernia, Splenomegaly, Be... |
OMIM:608149 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Beaking of vertebral bodies, Rib fusion, Pectus excavatum, Narrow chest, Bifid ... |
OMIM:213980 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Dystonia, Resting tremor, Abnormal posturing |
ORPHA:225147 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Generalized hyperpigmentation, Abnormality of skin pigmentation, Anemia |
ORPHA:2930 |
Oculocerebrorenal Syndrome Of Lowe |
|
Generalized hypopigmentation, Hypoammonemia, Platyspondyly, Umbilical hernia, Joint stiffness, Sc... |
ORPHA:534 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pectus excavatum, Minimal subcutaneous fat, Lateral clavicle hook, Thin ribs, Joint contracture o... |
OMIM:182212 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Rachitic rosary, Hypercalcemia, Rickets |
OMIM:612089 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... |
ORPHA:254534 |
Porphyria, Congenital Erythropoietic |
|
Corneal scarring, Joint contracture of the hand, Splenomegaly, Hypopigmentation of the skin, Oste... |
OMIM:263700 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:179800 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vert... |
ORPHA:90652 |
Hypophosphatemic Rickets |
|
Failure to thrive, Joint stiffness, Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalaci... |
ORPHA:437 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Abnormal rib morphology |
ORPHA:1120 |
Neu-Laxova Syndrome |
|
Flexion contracture, Opisthotonus, Osteopenia, Scoliosis, Osteomalacia, Osteoporosis, Arthrogrypo... |
ORPHA:2671 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Osteopenia, Hypertriglyceridemia, Rickets |
ORPHA:2088 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Osteomalacia, Rickets |
OMIM:267200 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... |
OMIM:250420 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Thin ribs |
OMIM:614833 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia |
OMIM:134600 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Inguinal hernia, Camptodactyly of finger, Scoliosis, Abnormal rib mor... |
ORPHA:2215 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Hiatus hernia, Platyspondyly, Broad cl... |
OMIM:304150 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, O... |
OMIM:300009 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Neutro... |
ORPHA:1163 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophil nuclei, Limited e... |
OMIM:618019 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... |
ORPHA:2990 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Increased serum beta-hexosaminidase, Short ribs, Scoliosis, Broad ribs |
OMIM:252600 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae |
ORPHA:2167 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook |
OMIM:617895 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Kyphosis, Rib fusion, Multiple joint contractures, Congenital diaphragmatic hernia, Anterior clef... |
OMIM:265000 |
Meier-Gorlin Syndrome 1 |
|
Failure to thrive, Abnormal rib cage morphology, Thin ribs, Short ribs, Absent glenoid fossa, Hem... |
OMIM:224690 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Steatorrhea, Osteomalacia, Osteoporosis, Iron deficiency anemia, Weight loss, Rickets |
ORPHA:309031 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Irregular vertebral endplates, Carpal synostosis, Kyphoscoliosis, Decreased body weight, Advanced... |
OMIM:271640 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Abnormality of retinal pigmentation, Hiatus hernia, ... |
ORPHA:50 |
Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Irregular ossification... |
OMIM:109400 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis |
OMIM:251230 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Thin ribs, Hypoplastic spleen, Decreased skull ossification, Asp... |
OMIM:602361 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia, Ovoid vertebral bodies, Bell-shaped thorax |
OMIM:244450 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Inguinal herni... |
OMIM:252940 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Reduced bone mineral density, Aplastic anemia, Enamel hypoplasia, Pancytopenia... |
OMIM:617052 |
Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... |
ORPHA:3003 |
Craniolenticulosutural Dysplasia |
|
Narrow chest, Scoliosis, Joint hyperflexibility, Hyperpigmentation of the skin, Abnormality of sk... |
ORPHA:50814 |
Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Broad ribs, Co... |
OMIM:245190 |
Mucopolysaccharidosis, Type Vi |
|
Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Flexion contracture, In... |
OMIM:253200 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Limitation of joint mobility, Inguinal hernia, Coat hanger sign of ribs, Short ne... |
ORPHA:254519 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Congenital diaphragmatic hernia, Hypopigmented skin patches, Missing ribs |
ORPHA:1647 |
Hennekam-Beemer Syndrome |
|
Failure to thrive, Irregular hyperpigmentation, Camptodactyly of finger, Scoliosis, Mastocytosis,... |
ORPHA:2135 |
Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Camptodact... |
ORPHA:83 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Abnormality of the vertebral column, Short neck, Abnormal rib morphol... |
ORPHA:77301 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Large for gestational age, Hypophosphatemia, Rickets, Hypouricemia |
OMIM:616026 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Retinal pi... |
OMIM:219800 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Broad clavicles, Facial palsy secondary to cranial hyperosto... |
OMIM:269500 |
Vacterl/Vater Association |
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Vertebral segmentation defect, Congenital diaphragmatic hernia, Abnormal rib morphology, Omphaloc... |
ORPHA:887 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Thin ribs, Increased connective tissue, Abnormal thorax morphology, Arthrogr... |
ORPHA:171430 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormal rib morphology |
ORPHA:1506 |
Cohen Syndrome |
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Kyphosis, Pectus excavatum, Abnormality of retinal pigmentation, Scoliosis, Joint hyperflexibilit... |
ORPHA:193 |
Craniofaciofrontodigital Syndrome |
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Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Joint hypermobility |
OMIM:114620 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Tetraamelia-Multiple Malformations Syndrome |
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Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... |
ORPHA:254528 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Sclerosis of skull base, Scoliosis, Broad ribs |
OMIM:269300 |
Cog1-Cdg |
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Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... |
ORPHA:263508 |
Short Rib-Polydactyly Syndrome |
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Narrow chest, Abnormal bone ossification, Short ribs, Reduced bone mineral density, Absent or min... |
ORPHA:1505 |
Stuve-Wiedemann Syndrome 1 |
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Thin ribs, Short neck, Scoliosis, Osteoporosis, Camptodactyly, Pathologic fracture, Flexion contr... |
OMIM:601559 |
Mucopolysaccharidosis Type 3 |
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Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Inguinal hernia, Reduced bone... |
ORPHA:581 |
Distal Renal Tubular Acidosis |
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Failure to thrive, Hypokalemia, Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Inc... |
ORPHA:18 |
Trisomy 1Q |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Abnormal rib morphology, Short thorax, ... |
ORPHA:261344 |
Alpha-Mannosidosis, Infantile Form |
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Thickened ribs, Joint stiffness, Pectus excavatum, Cortical thickening of long bone diaphyses, Cr... |
ORPHA:309282 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Platyspondyly, Thin ribs |
ORPHA:163966 |
Osteopathia Striata With Cranial Sclerosis |
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Failure to thrive, Sclerosis of skull base, Pectus excavatum, Joint contracture of the hand, Trac... |
OMIM:300373 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Osteomalacia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Focal Dermal Hypoplasia |
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Short clavicles, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Short ribs,... |
ORPHA:2092 |
Incontinentia Pigmenti |
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Irregular hyperpigmentation, Camptodactyly of finger, Eosinophilia, Scoliosis, Spina bifida occul... |
ORPHA:464 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Small for gestational age, Thrombocytopenia, Abnormality of skin pigmentation, Pancy... |
OMIM:227650 |
Hallermann-Streiff Syndrome |
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Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Small for gestational age, Tracheomala... |
OMIM:234100 |
Autosomal Recessive Malignant Osteopetrosis |
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Narrow chest, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosi... |
ORPHA:667 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Abnormality of the vert... |
ORPHA:280 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Lipoma, Hemivertebrae, Scoliosis, Mis... |
OMIM:304050 |
Van Den Ende-Gupta Syndrome |
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Short clavicles, Pectus excavatum, Lateral clavicle hook, Thin ribs, Short ribs, Joint contractur... |
OMIM:600920 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Failure to thrive, Kyphoscoliosis, Thoracic scoliosis, Delaye... |
OMIM:114290 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Narrow chest, Elbow ankylosis, Flexion contracture, Craniosynostosis, Decreased circulating corti... |
ORPHA:95699 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... |
ORPHA:96334 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Renal hypophosphate... |
ORPHA:1652 |
Acrorenal-Mandibular Syndrome |
|
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Thin ribs, He... |
OMIM:200980 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Joint stiffness, Nonketotic hyperglycinemia, Scoliosis |
ORPHA:1300 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Platyspondyly, Scoliosis, Hypotriglyceridemia, Ovoid vertebr... |
ORPHA:85167 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Kyphosis, Failure to thrive, Ivory epiphyses of the phalange... |
OMIM:133540 |
Schinzel-Giedion Midface Retraction Syndrome |
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Failure to thrive, Sclerosis of skull base, Short sternum, Opisthotonus, Long clavicles, Short ne... |
OMIM:269150 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Bone spicule pigmentation of the retina, Recurrent fractures, Rickets |
OMIM:268315 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hypopigmentation of the skin, Hepatosplenomegaly, Limited elbow extension, Hyperlordosis, Broad r... |
OMIM:301066 |
Autosomal Dominant Centronuclear Myopathy |
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Large for gestational age, Thin ribs, Mildly elevated creatine kinase |
ORPHA:169189 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Decreased body weight, Delayed ossification of carpal bones, Del... |
OMIM:600002 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Pigmentary retinopathy, Abnormal blood ion conc... |
ORPHA:411629 |
Mastocytosis |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Abnormality of skin pigmentation, ... |
ORPHA:98292 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... |
OMIM:610682 |
Myhre Syndrome |
|
Joint stiffness, Inguinal hernia, Platyspondyly, Abnormal rib morphology, Femoral hernia, Craniof... |
ORPHA:2588 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Inguinal hernia, Proximal symphalangism of hands, Hyperextensibility of the fi... |
OMIM:151050 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormally ossified vertebrae, Osteopenia, Short neck, Osteomalacia, Abnormal form of the vertebr... |
ORPHA:2636 |
Microphthalmia, Syndromic 3 |
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Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Proteus Syndrome |
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Craniosynostosis, Calvarial hyperostosis, Generalized hyperpigmentation, Abnormal subcutaneous fa... |
ORPHA:744 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Xylt1-Cdg |
|
Short clavicles, Joint laxity, Broad ribs, Truncal obesity |
ORPHA:370930 |
Kyphomelic Dysplasia |
|
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Thoracic hypopl... |
OMIM:211350 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Recurrent fractures, Pectus excavatum, Hypocalcemia, Prominent floating ribs, ... |
ORPHA:2785 |
Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Thin bony cortex, Broad ... |
OMIM:277600 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Inguinal hernia, Thin ribs, Osteopenia, Platyspondyly, Osteoporosis, Progressive ... |
OMIM:225400 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Kyphosis, Failure to thrive, Hip contracture, Ivory epiphyse... |
OMIM:216400 |
Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Inguinal hernia, Short ribs, Splenomegaly, Short neck, Hypoplastic scapulae, Horizo... |
OMIM:269860 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Rib fusion, Pectus excavatum, Inguinal hernia, Hypoplastic sacrum, Hemivertebrae, Short neck, Sco... |
OMIM:268310 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Spina bifida occulta, Abnormal rib morphology, Thickened cortex of long b... |
ORPHA:488434 |
Gaucher Disease |
|
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:355 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Incontinentia Pigmenti |
|
Kyphoscoliosis, Scarring, Leukocytosis, Hemivertebrae, Eosinophilia, Abnormality of skin pigmenta... |
OMIM:308300 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Joint hypermobility |
ORPHA:456328 |
Alkaptonuria |
|
Intervertebral disk calcification, Joint stiffness, Irregular hyperpigmentation, Reduced bone min... |
ORPHA:56 |
Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Hypocholesterolemia, Acute lymphoblastic leukemia, Sacral dimple |
OMIM:223370 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Platyspondyly, Pectus carinatum, Horizontal ribs... |
OMIM:263520 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3015 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Cachexia, Camptodactyly of ... |
ORPHA:3380 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Osteomalacia, Decreased plasma carnitine... |
ORPHA:3337 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Pectus excavatum, Short sternum, Congenital diaphragmatic hernia, ... |
OMIM:312870 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital diaphragmatic hernia, Inguinal hernia... |
ORPHA:373 |
Alagille Syndrome 1 |
|
Failure to thrive, Hemivertebrae, Pigmentary retinopathy, Abnormal rib morphology, Hypertriglycer... |
OMIM:118450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Platyspondyly, Narrow chest, Abnormal rib morphology |
ORPHA:93317 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Rib gap, Anomalous rib insertion to vertebrae, 11 pairs of ribs, ... |
OMIM:117650 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Rib fusion, Inguinal hernia, Sacral dimple |
ORPHA:544488 |
Kbg Syndrome |
|
Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Cervical ribs, Vertebral fusion |
OMIM:148050 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Abnormal rib morphology, Radioulnar synostosis |
OMIM:617604 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Osteopetrosis, Multiple rib fractures, Abnormal trabecular bone morphology, Anemia,... |
OMIM:612301 |
Weill-Marchesani Syndrome 2 |
|
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Thin bony cortex, Broad ... |
OMIM:608328 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Joint stiffness, Pectus excavatum, Flexion contracture, Thin ribs, Osteopenia, Elevated hemoglobi... |
OMIM:619127 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Inguinal hernia, Hemivertebrae, Scoliosis, Limit... |
OMIM:134780 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Thin ribs, Long clavicles, Inguinal hernia, Contracture of the distal interpha... |
ORPHA:83617 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Rickets |
OMIM:219900 |
Autosomal Recessive Robinow Syndrome |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Pectus excavatum, Inguinal hernia, Camptodac... |
ORPHA:1507 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... |
OMIM:250220 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Elevated circulating C-reactive protein con... |
OMIM:619381 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Hypermagnesemia, ... |
ORPHA:405 |
Myhre Syndrome |
|
Joint stiffness, Small for gestational age, Platyspondyly, Enlarged vertebral pedicles, Short nec... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short ribs, Scoliosis, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook |
OMIM:613091 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Abnormality of the vertebral column, Short neck, Scoliosis, Abno... |
ORPHA:261112 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Joint hypermobility |
OMIM:300219 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short ribs, Decreased calvarial ossification, Short neck, Long thorax, Horizontal r... |
OMIM:617925 |
Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Camptodactyly of finger, Joint hyperflexibility, Abnormal rib morpho... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Abnormality of skin pigmen... |
ORPHA:2908 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Bell-shaped thorax, Horizontal ribs, Omphalocele, Unicoronal synostosis |
OMIM:616300 |
Zttk Syndrome |
|
Kyphosis, Rib fusion, Failure to thrive, Flexion contracture, Craniosynostosis, Hemivertebrae, Sc... |
OMIM:617140 |
Schinzel-Giedion Syndrome |
|
Kyphoscoliosis, Abnormal clavicle morphology, Sclerosis of skull base, Inguinal hernia, Short nec... |
ORPHA:798 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Elevated 7-dehydrocholesterol, Congenital diaphragmatic hernia, Short neck, Scoliosis, ... |
ORPHA:818 |
Robinow Syndrome |
|
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Small for gestational age, Hemivertebrae, S... |
ORPHA:97360 |
Cranioectodermal Dysplasia 2 |
|
Narrow chest, Pectus excavatum, Hyperbilirubinemia, Inguinal hernia, Short ribs, Craniosynostosis... |
OMIM:613610 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Early ossification of capital femoral epiphyses, Conjugated hyperbiliru... |
OMIM:208500 |
Cardiospondylocarpofacial Syndrome |
|
Failure to thrive, Rib fusion, Carpal synostosis, Congenital diaphragmatic hernia, Scoliosis, Fus... |
OMIM:157800 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Spinal canal stenosis, Thickened ribs, Abnormality of retinal pigmentation, Flexion contracture, ... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Spinal canal stenosis, Thickened ribs, Abnormality of retinal pigmentation, Flexion contracture, ... |
ORPHA:217093 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormality of the spleen, Arth... |
ORPHA:228123 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Splenomegaly, Hypocholesterolemia, Sacral dimpl... |
OMIM:270400 |
Baller-Gerold Syndrome |
|
Rib fusion, Carpal synostosis, Coronal craniosynostosis, Scoliosis, Spina bifida occulta, Limited... |
OMIM:218600 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow ankylosis, Thin ribs, Small for gestational age, Camptodactyly of finger, Short neck, Arthr... |
OMIM:208150 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Thin ribs |
OMIM:617397 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Short ribs, Pectus carinatum, Horizontal ribs, Capitate-hamate fusion |
OMIM:225500 |
Fryns Syndrome |
|
Joint contracture of the hand, Thin ribs, Short neck, Aplasia of the left hemidiaphragm, Camptoda... |
OMIM:229850 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Craniosynostosis, Camptodactyly of finger, Aplastic clavicle, Abnormal rib mor... |
ORPHA:2554 |
Wiedemann-Rautenstrauch Syndrome |
|
Narrow chest, Failure to thrive, Reduced subcutaneous adipose tissue, Lipoatrophy, Thin ribs, Sma... |
OMIM:264090 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Rib fusion, Abnormal sternal ossification, Failure to thrive, Small for gestational age... |
OMIM:194190 |
1P36 Deletion Syndrome |
|
Spinal canal stenosis, Kyphosis, Bifid ribs, Rib fusion, Ocular albinism, Failure to thrive, Join... |
ORPHA:1606 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Thin bony cortex, Broad ribs |
OMIM:619727 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hemivertebrae, Barrel-shaped chest, Short neck, Decreased cal... |
OMIM:276820 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Short clavicles, Pectus excavatum, Inguinal hernia, Craniosynostosis, Undulate ribs,... |
OMIM:609945 |
Vater/Vacterl Association |
|
Failure to thrive, Abnormal sternum morphology, Scoliosis, Radioulnar synostosis, Abnormal rib mo... |
OMIM:192350 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
Renal Dysplasia-Limb Defects Syndrome |
|
Short neck, Short sternum, Thin ribs, Short ribs |
OMIM:266910 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Hemivertebrae, Rib fusion |
OMIM:146510 |
Dextrocardia |
|
Abnormal rib morphology, Abnormality of the spleen |
ORPHA:1666 |
Restrictive Dermopathy |
|
Multiple joint contractures, Thin ribs, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Camp... |
ORPHA:1662 |
Ulbright-Hodes Syndrome |
|
Short sternum, Thin ribs, Short ribs, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... |
ORPHA:3404 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... |
ORPHA:97214 |
Charge Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density |
ORPHA:138 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnorma... |
ORPHA:991 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |