Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones |
ORPHA:53697 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
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 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Tall stature |
OMIM:618406 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osseous Heteroplasia, Progressive |
|
Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures |
ORPHA:57782 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... |
ORPHA:2635 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... |
OMIM:215045 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Slender build, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... |
ORPHA:1782 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... |
OMIM:618392 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... |
OMIM:176920 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatroph... |
ORPHA:163649 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... |
ORPHA:79445 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Monosomy 5P |
|
Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m... |
ORPHA:281 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... |
ORPHA:93160 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures |
ORPHA:329475 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... |
ORPHA:1078 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Osteoporosis, Obesity, Brachydactyly |
OMIM:612463 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... |
ORPHA:1426 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... |
ORPHA:3210 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... |
ORPHA:2780 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification |
ORPHA:85179 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Short foot, ... |
ORPHA:3409 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Abnormality of bone mineral density |
ORPHA:3156 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... |
OMIM:265800 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Abnorm... |
OMIM:127000 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Knee flexion contractur... |
OMIM:313420 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Overweight, Generalized osteosclerosis,... |
ORPHA:763 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets |
OMIM:611590 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Osteoporosis, Increased body weight |
OMIM:615954 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis, Increased body weight |
OMIM:615830 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptodactyly of fin... |
ORPHA:90652 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Obesi... |
ORPHA:79444 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Obesity, Flattened epiphysis,... |
OMIM:618363 |
Achondrogenesis |
|
Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification |
ORPHA:932 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes... |
ORPHA:65759 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis... |
OMIM:230600 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous ossification, ... |
OMIM:103580 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Small for gestational ag... |
ORPHA:2909 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Metatarsus adductus, Osteopetrosis, Failure to thrive |
ORPHA:35107 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... |
ORPHA:221016 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity |
ORPHA:77296 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis, Sl... |
ORPHA:902 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... |
ORPHA:221008 |
Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Tapered finger, Large for gestational age, Large hands, Short 5th metacarpal |
OMIM:102150 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho... |
ORPHA:35687 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Decreased osteoclast cou... |
OMIM:259720 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f... |
ORPHA:2905 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossificat... |
OMIM:618395 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... |
ORPHA:79443 |
Cantu Syndrome |
|
Broad hallux, Short hallux, Large for gestational age, Coxa valga, Metaphyseal widening, Osteopor... |
OMIM:239850 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... |
OMIM:612731 |
Desmosterolosis |
|
Rhizomelia, Generalized osteosclerosis, Joint contracture of the hand, Bilateral talipes equinova... |
OMIM:602398 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis, Short palm |
OMIM:241410 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... |
OMIM:119600 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... |
ORPHA:2769 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Abnormal cortical bone morphology |
OMIM:614886 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Cone-shaped e... |
OMIM:614613 |
Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:213 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Failure to thrive, Rickets |
ORPHA:2088 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Osteoporosis, Obesity, Brachydactyly |
OMIM:612462 |
Momo Syndrome |
|
Large for gestational age, Obesity, Femoral bowing, Large hands, Overgrowth, Short sternum, Abnor... |
ORPHA:2563 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Osteoporosis, Obesity |
OMIM:615300 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Absent ossification of capital fe... |
ORPHA:226313 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... |
OMIM:259775 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Sanjad-Sakati Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis |
ORPHA:2323 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... |
ORPHA:370010 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... |
OMIM:269300 |
Schwartz-Jampel Syndrome |
|
Micromelia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally ossi... |
ORPHA:800 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Rickets |
ORPHA:79303 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Thin bony cortex, Recurrent fractures, Long fingers, Ost... |
OMIM:309583 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Obesity, Radioulnar synostosis, Short... |
ORPHA:171839 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Truncal obesity, Osteoporosis |
OMIM:219080 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Joint hypermobility |
OMIM:620065 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Truncal obesity, Osteoporosis |
OMIM:610475 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Decreased bo... |
OMIM:605822 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity, Genu valgu... |
ORPHA:91 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Hip dysplasia, Cranial hyperostosis |
ORPHA:457240 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... |
OMIM:619269 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility |
OMIM:619056 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... |
ORPHA:562 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Osteoporosis, Rickets |
OMIM:212750 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... |
OMIM:610442 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... |
ORPHA:589905 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Clubbing |
ORPHA:33364 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Truncal obesity, Osteoporosis |
OMIM:610489 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... |
ORPHA:18 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar... |
ORPHA:2671 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... |
ORPHA:1328 |
Luscan-Lumish Syndrome |
|
Overgrowth, Advanced ossification of carpal bones, Obesity |
OMIM:616831 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa... |
OMIM:201000 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... |
OMIM:618162 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Lambdoidal craniosyn... |
OMIM:615398 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Limited shoulder movem... |
OMIM:618821 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Osteoporosis, Obesity |
OMIM:219090 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... |
ORPHA:2636 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Increased body weight, Large for gestational age |
ORPHA:263455 |
Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures |
ORPHA:189427 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal sh... |
ORPHA:488434 |
Temple Syndrome |
|
Small for gestational age, Overweight, Flexion contracture, Small hand, Obesity, Short foot, Trun... |
OMIM:616222 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Obesity, Genu valgum, Short palm, Tall stature |
OMIM:300602 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Obesity, Short foot, Clinodactyly, Joint hypermobility |
ORPHA:254531 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Short palm, Increased bone mineral density, Rocker bottom foot, Limitatio... |
ORPHA:79474 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Obesity, Small hand, Short foot, Abdominal obesity, Hip dysplasia, Fail... |
ORPHA:398079 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:411629 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Failu... |
OMIM:613658 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... |
ORPHA:666 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Short phalanx of finger, Wrist fl... |
ORPHA:1826 |
Kallmann Syndrome |
|
Obesity, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Small hand, Short foot, Abd... |
ORPHA:398069 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Mulibrey Nanism |
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Thickened cortex of long bones |
OMIM:253250 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Osteoporosis, Increased body weight |
ORPHA:79240 |
Aspartylglucosaminuria |
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Joint stiffness, Arthritis, Anterior beaking of lumbar vertebrae, Scoliosis, Beaking of vertebral... |
ORPHA:93 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, ... |
OMIM:309000 |
19P13.12 Microdeletion Syndrome |
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Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Obesity, Short palm, Clinodact... |
ORPHA:254346 |
Achondroplasia |
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Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Prader-Willi Syndrome |
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Osteopenia, Syndactyly, Failure to thrive in infancy, Acromicria, Osteoporosis, Obesity, Small ha... |
OMIM:176270 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Osteoporosis, Increased body weight |
ORPHA:264580 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Craniosynostosis, Obesity, Camptodactyly of toe |
ORPHA:251038 |
Craniofaciofrontodigital Syndrome |
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Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Large hands, Finger joint hype... |
ORPHA:363705 |
Craniodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia |
ORPHA:405 |
Osteopetrosis With Renal Tubular Acidosis |
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Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Recurrent fractures, Craniosynostosis, Obesity |
ORPHA:251004 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... |
ORPHA:177904 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Osteopenia, Pathologic fracture, Obesity |
OMIM:614231 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... |
ORPHA:177901 |
Distal Triplication 15Q |
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Arachnodactyly, Craniosynostosis, Large for gestational age, Birth length greater than 97th perce... |
ORPHA:314588 |
Proximal 16P11.2 Microdeletion Syndrome |
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Hand polydactyly, Failure to thrive, Obesity, Craniosynostosis |
ORPHA:261197 |
Wilson Disease |
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Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility |
OMIM:277900 |
Cystinosis, Nephropathic |
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Failure to thrive in infancy, Metaphyseal widening, Rickets, Weight loss, Genu valgum, Hypophosph... |
OMIM:219800 |
Wilson Disease |
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Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive |
ORPHA:905 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Osteopenia, Craniosynostosis, Upper limb undergrowth, Obesity, Slender long bone, Joint hypermobi... |
ORPHA:369837 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Increased body mass index, Congenital hip dislocation, Increased body weight |
OMIM:614450 |
Williams Syndrome |
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Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Failure to thrive in inf... |
ORPHA:904 |
Hepatic Veno-Occlusive Disease |
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Increased body weight |
ORPHA:890 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Genu valgum, Joint hyperflex... |
ORPHA:534 |
Sotos Syndrome |
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Joint laxity, Long metacarpals, Increased body weight, Genu valgum, Long phalanx of finger, Large... |
OMIM:117550 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Myelofibrosis, Failure to thrive, Joint laxity, Large for gestational age |
OMIM:607721 |
Immunodeficiency 82 With Systemic Inflammation |
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Arthritis, Osteomyelitis, Osteomalacia, Weight loss |
OMIM:619381 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Osteoporosis, Increased body weight |
ORPHA:96253 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small prox... |
ORPHA:96334 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Short foot, Broad hallux, Increased body weight, 2-3 toe syndactyly |
OMIM:300860 |
Smith-Magenis Syndrome |
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Brachydactyly, Increased body weight, Short palm |
OMIM:182290 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Increased body weight |
ORPHA:276608 |
Stuve-Wiedemann Syndrome 1 |
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Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,... |
OMIM:601559 |
Generalized Arterial Calcification Of Infancy |
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Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc... |
ORPHA:51608 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... |
ORPHA:99226 |
Ulnar-Mammary Syndrome |
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Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Carpenter Syndrome 2 |
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Short digit, Craniosynostosis, Postaxial polydactyly, Preaxial polydactyly, Obesity, Coxa vara, K... |
OMIM:614976 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Overweight, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Abnormal epiphysi... |
ORPHA:226307 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Osteoporosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Insulinoma |
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Increased body weight |
ORPHA:97279 |
Blue Diaper Syndrome |
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Increased body weight |
ORPHA:94086 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreased body we... |
ORPHA:2298 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... |
ORPHA:97685 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |