Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... |
ORPHA:57196 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
Ollier Disease |
|
Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness |
ORPHA:296 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis |
ORPHA:100024 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... |
ORPHA:93160 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis... |
ORPHA:1657 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Osteolysis |
ORPHA:494 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... |
ORPHA:66627 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... |
ORPHA:137834 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Classic Hodgkin Lymphoma |
|
Osteolysis |
ORPHA:391 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Periostitis, Os... |
OMIM:612852 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand... |
ORPHA:90154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... |
ORPHA:90153 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Felty Syndrome |
|
Arthritis, Limitation of joint mobility, Osteolysis, Synovitis |
ORPHA:47612 |
Gamma-Heavy Chain Disease |
|
Osteolysis, Rheumatoid arthritis |
ORPHA:100026 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Aggressive Systemic Mastocytosis |
|
Pathologic fracture, Osteoporosis, Osteolysis |
ORPHA:98850 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
Papillon-Lefèvre Syndrome |
|
Arachnodactyly, Osteolysis |
ORPHA:678 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,... |
OMIM:617952 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Mixed Connective Tissue Disease |
|
Arthritis, Osteolysis, Joint stiffness |
ORPHA:809 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Ge... |
ORPHA:309282 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Short toe, Osteoporosis... |
ORPHA:955 |
H Syndrome |
|
Hallux valgus, Recurrent fractures, Osteolysis, Camptodactyly |
ORPHA:168569 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, Absent hand, De... |
ORPHA:464 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... |
OMIM:608612 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Pathologic fracture, Joint contracture of the hand, Osteolysis |
OMIM:263700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Joint stiffness, Coxa valga, Flexion contracture, Elbow flexi... |
OMIM:248370 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat... |
ORPHA:355 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing |
ORPHA:3042 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo... |
ORPHA:228123 |
Cryptococcosis |
|
Osteomyelitis, Osteolysis |
ORPHA:1546 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... |
OMIM:166220 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Osteolysis |
ORPHA:1052 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Osteoporosis, Osteolysis |
ORPHA:95159 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Reduced haptoglobin level, Osteoporosis, Osteolysis |
ORPHA:79277 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Thic... |
ORPHA:97685 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, Postaxial poly... |
ORPHA:221120 |
Zygomycosis |
|
Osteolysis |
ORPHA:73263 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... |
OMIM:600920 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility |
ORPHA:285 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... |
OMIM:276820 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... |
OMIM:304120 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus |
ORPHA:286 |