Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
ORPHA:57782 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia |
ORPHA:53697 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis |
OMIM:256720 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia |
OMIM:615066 |
12q14 microdeletion syndrome |
|
Proportionate short stature, Osteopoikilosis |
DECIPHER:76 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Osteoporosis, Reduced bone mineral density, Delayed skeletal maturation, Recurrent... |
ORPHA:2410 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Severe short stature, Rhizomelia, Osteopenia |
OMIM:301014 |
Hypophosphatasia, Adult |
|
Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomalacia, Recurrent frac... |
OMIM:146300 |
Familial Expansile Osteolysis |
|
Bone pain, Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Osteochondrosis, Arthritis, Joint stiffness, Foot pain, Avascular necrosi... |
ORPHA:564003 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615270 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Monosomy 5P |
|
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Recurrent fr... |
ORPHA:281 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Osteoporosis, Short stature, Joint laxity |
OMIM:248010 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Bone pain |
ORPHA:329475 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature |
OMIM:608278 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Mild short stature, Increased susceptibility to fractures, Osteopenia, Premature osteoarthritis, ... |
OMIM:130060 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly |
OMIM:264010 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Postnatal growth retardation, Delayed skeletal maturation, Recurrent fractures, Joint... |
ORPHA:2324 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Short stature, Splenomegaly |
ORPHA:2204 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Short stature, Increased susceptibility to fractures,... |
OMIM:259450 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Osteogenesis Imperfecta, Type V |
|
Limited pronation/supination of forearm, Short stature, Osteopenia, Joint hypermobility, Recurren... |
OMIM:610967 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Disproportionate sho... |
OMIM:259410 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis, Bone pain |
ORPHA:85193 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Bone cyst, Osteopenia, Pathologic fracture |
OMIM:618193 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Increased susceptibility to fractures, Osteoporosis, Osteopenia |
OMIM:612287 |
Bruck Syndrome 2 |
|
Short stature, Increased susceptibility to fractures, Knee flexion contracture, Osteopenia, Flexi... |
OMIM:609220 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Postnatal growth retardation, Pathologic fracture |
OMIM:179800 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Disproportionate short-limb short stature, Multiple prenatal fr... |
OMIM:259440 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Recurrent fractures, Anemia, Osteopenia |
OMIM:618107 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteopetrosis, Autosomal Recessive 4 |
|
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Short stature, Rickets |
OMIM:146350 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Increased susceptibility to fractures, Osteoporosis, Osteopenia |
OMIM:612286 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteoporosis, Severe short stature, Osteopenia |
OMIM:126550 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Short stature, Limited elbow extension, Hyperostosis |
OMIM:604922 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Rickets, Osteomalacia, Bone pain, Hypophosphatemic rickets |
OMIM:193100 |
Juvenile Paget Disease |
|
Short stature, Osteoporosis, Coarse metaphyseal trabecularization, Cranial hyperostosis, Recurren... |
ORPHA:2801 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis |
ORPHA:970 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Short stature, Delayed epiphyseal ossification, Abnormal... |
ORPHA:79106 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Albers-Schönberg Osteopetrosis |
|
Bone pain, Short stature, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibula... |
ORPHA:53 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Gorham-Stout Disease |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... |
ORPHA:73 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Increased susceptibility to fractures, Reduced bone mineral density, Bowing of lim... |
OMIM:166220 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Bruck Syndrome |
|
Short stature, Osteoporosis, Arthrogryposis multiplex congenita, Joint stiffness, Recurrent fract... |
ORPHA:2771 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures |
OMIM:147060 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Short stature, Splenomegaly |
ORPHA:417 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Joint laxity |
ORPHA:2788 |
Lichtenstein Syndrome |
|
Increased susceptibility to fractures, Osteoporosis, Neutropenia |
OMIM:246550 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Postnatal growth retardation, Short stature, Osteopenia |
OMIM:619489 |
Buschke-Ollendorff Syndrome |
|
Short stature, Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structur... |
ORPHA:1306 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... |
OMIM:600081 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Intrauterine growth retardation, Disproportionate short-limb sh... |
ORPHA:2772 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Severe short stature, Ca... |
ORPHA:2635 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Kn... |
OMIM:600785 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Growth delay, Short stature, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Bon... |
ORPHA:157215 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones |
OMIM:114000 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... |
ORPHA:2114 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 2 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... |
OMIM:259710 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Short stature, Rickets, Delayed epiphyseal ossification, Recurrent fractures, O... |
OMIM:300554 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis |
ORPHA:1525 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Joint hypermobility, Recurrent fractures, Short stature, Reduced bone mineral density |
OMIM:619115 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Short stature, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabeculariza... |
ORPHA:93160 |
Glycerol Kinase Deficiency |
|
Osteoporosis, Growth delay, Short stature, Pathologic fracture |
OMIM:307030 |
Osteosarcoma |
|
Osteolysis, Pathologic fracture |
ORPHA:668 |
Osteogenesis Imperfecta, Type Iii |
|
Decreased calvarial ossification, Neonatal short-limb short stature, Disproportionate short-limb ... |
OMIM:259420 |
Osteogenesis Imperfecta, Type Xi |
|
Increased susceptibility to fractures, Joint laxity, Short stature, Osteopenia |
OMIM:610968 |
Adamantinoma |
|
Bone pain, Pathologic fracture |
ORPHA:55881 |
Cole-Carpenter Syndrome 1 |
|
Short stature, Osteopenia, Orbital craniosynostosis, Coronal craniosynostosis, Recurrent fractures |
OMIM:112240 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Short stature, Rickets, Increased susceptibility to fractures, Delayed epiphyse... |
ORPHA:289157 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Increased susceptibility to fractures, Bone pain, Osteolysis |
OMIM:602080 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Solitary Bone Cyst |
|
Unicameral bone cyst, Bone pain, Pathologic fracture |
ORPHA:83468 |
Dysosteosclerosis |
|
Short stature, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mi... |
ORPHA:1782 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Severe short stature, Abnormal enchondral ossification |
ORPHA:93299 |
Maffucci Syndrome |
|
Growth delay, Short stature, Recurrent fractures, Bone pain, Osteolysis |
ORPHA:163634 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Mycetoma |
|
Bone cyst, Osteoporosis, Abnormal bone structure, Osteomyelitis, Painless fractures due to injury... |
ORPHA:2583 |
Osteogenesis Imperfecta, Type Xxi |
|
Joint hypermobility, Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature |
OMIM:619131 |
Infantile Systemic Hyalinosis |
|
Growth delay, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Severe short statu... |
ORPHA:2176 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Increased susceptibility to fractures, Pathologic fracture, Calvarial hyperostosis... |
ORPHA:52430 |
Variant Abeta2M Amyloidosis |
|
Wrist pain, Multiple bony cystic lesions, Knee pain, Pathologic fracture |
ORPHA:314652 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Bo... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity |
OMIM:617952 |
Grant Syndrome |
|
Decreased skull ossification, Short stature, Abnormal cortical bone morphology, Joint hyperflexib... |
ORPHA:2097 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Severe short stature, Camptodact... |
OMIM:231070 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Rickets |
OMIM:613388 |
Gaucher Disease Type 1 |
|
Growth delay, Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, D... |
ORPHA:77259 |
Majeed Syndrome |
|
Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Co... |
ORPHA:77297 |
Osteogenesis Imperfecta, Type Xv |
|
Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures, Short stature |
OMIM:615220 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Osteoporosis, Reduced bone mineral density, Delayed skeletal maturation, Recurrent... |
ORPHA:2235 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Short stature, Rickets |
OMIM:615605 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Anemia, Short stature |
ORPHA:436 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Bone cyst, Pathologic fracture |
OMIM:221770 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Calvarial hyperostosis, Facial hyperostosis |
OMIM:176920 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Short stature, Osteoporosis, Camptodactyly of finger, Recurrent fract... |
ORPHA:3409 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Rickets, Iron deficiency anemia, Osteomalacia, Bone pain |
ORPHA:89937 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... |
OMIM:264700 |
Osteogenesis Imperfecta, Type I |
|
Joint hypermobility, Increased susceptibility to fractures, Recurrent fractures, Osteopenia |
OMIM:166200 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple ... |
ORPHA:83451 |
Dent Disease 1 |
|
Thin bony cortex, Short stature, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurren... |
OMIM:300009 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis |
OMIM:167250 |
Ck Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Short stature, Osteoporosis, Increased bone mineral density, Recurrent fractures |
OMIM:239000 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... |
OMIM:112250 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Craniosynostosis, Reduced bone mineral density, Accelerate... |
ORPHA:561 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... |
OMIM:259700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... |
OMIM:277440 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Multiple prenatal fractures, Flexion contracture, Osteopenia |
OMIM:271225 |
Geroderma Osteodysplastica |
|
Growth delay, Osteoporosis, Severe short stature, Abnormal bone ossification, Recurrent fractures... |
ORPHA:2078 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis, Bone pain |
OMIM:616833 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Accelerated skeletal maturation, Joint stiffness, Recurrent fractures, Osteoar... |
ORPHA:1822 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Splenom... |
ORPHA:231222 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, H... |
OMIM:611590 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Thin bony cortex, Delayed skeletal maturation |
OMIM:619638 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Rickets |
OMIM:602722 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Pathologic fracture,... |
ORPHA:98850 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Increased susceptibility to fractures, Craniosynostosis, Unossi... |
OMIM:241500 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, Osteoporos... |
OMIM:612199 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... |
ORPHA:371428 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Short stature, Increased susceptibility to fractures, Limited elbow extension, Elbow flexion cont... |
ORPHA:93359 |
Mccune-Albright Syndrome |
|
Polyostotic fibrous dysplasia, Craniofacial hyperostosis, Pathologic fracture |
OMIM:174800 |
Osteogenesis Imperfecta, Type Vi |
|
Increased susceptibility to fractures, Joint laxity |
OMIM:613982 |
Gaucher Disease Type 3 |
|
Growth delay, Increased susceptibility to fractures, Anemia, Splenomegaly, Delayed puberty, Incre... |
ORPHA:77261 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Increased susceptibility to fractures, Osteomyelitis leading to... |
OMIM:256810 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Disproportionate short-limb short stature, Multiple prenatal fractures, Abse... |
OMIM:166210 |
Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Pathologic fracture, Bone pain, Fibrous dysplasia of the b... |
ORPHA:352540 |
Grange Syndrome |
|
Increased susceptibility to fractures |
ORPHA:79094 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Intrauterine growth retardation, Osteopenia, Pathologic fracture, Postnatal growth retardation, E... |
OMIM:612394 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Increased susceptibility to fractures, Osteoporosis, Pathologic fracture, Joint hy... |
OMIM:259770 |
Osteogenesis Imperfecta, Type Viii |
|
Disproportionate short-limb short stature, Multiple prenatal fractures, Type 1 collagen overmodif... |
OMIM:610915 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Short stature, Rickets |
OMIM:134600 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Osteopenia, Short stature, Rickets |
OMIM:211600 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Weismann-Netter Syndrome |
|
Anemia, Abnormal cortical bone morphology, Severe short stature |
ORPHA:3344 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... |
ORPHA:98849 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... |
OMIM:224300 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Intermediate Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture |
ORPHA:171433 |
Al-Gazali Syndrome |
|
Recurrent fractures, Wrist flexion contracture, Proximal radio-ulnar synostosis, Osteopenia |
OMIM:609465 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Bone pain, Short stature, Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Short stature, Osteopenia, Recurrent fractures, Hypophosphatemic rickets |
OMIM:163200 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Calvar... |
ORPHA:93324 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Craniosynostosis, Osteomyelitis, Osteopenia, Recurrent fractures, Joint hyperflexib... |
ORPHA:2314 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Multiple prenatal fractures, Osteopenia, Decreased skull ossific... |
OMIM:616897 |
Pycnodysostosis |
|
Intrauterine growth retardation, Generalized osteosclerosis, Increased susceptibility to fracture... |
ORPHA:763 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint hypermobility, Recurrent fractures, Short stature |
OMIM:619120 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Knee flexion contracture, Osteopenia, Severe short stature, Pathologic fracture |
OMIM:156400 |
Distal Renal Tubular Acidosis |
|
Growth delay, Short stature, Rickets, Increased susceptibility to fractures, Reduced bone mineral... |
ORPHA:18 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Short stature, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure... |
ORPHA:249 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Growth delay, Short stature, Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphol... |
ORPHA:289176 |
Sapho Syndrome |
|
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... |
ORPHA:793 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Intrauterine growth retardation, Vertebral fusion, Flexion... |
OMIM:312150 |
Porphyria, Congenital Erythropoietic |
|
Short stature, Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thro... |
OMIM:263700 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Bone pain |
ORPHA:319487 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture |
OMIM:616867 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Intrauterine growth retardation, Vertebral fusion, Flexion... |
OMIM:253290 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Limb pain, Short stature, Iron deficiency anemia, Increased susceptibility to f... |
ORPHA:93315 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Osteopenia, Severe sh... |
ORPHA:1901 |
Mastocytosis |
|
Acute leukemia, Chronic leukemia, Osteoporosis, Mastocytosis, Splenomegaly, Recurrent fractures |
ORPHA:98292 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Bone pain, Hypophosphatemic rickets |
OMIM:307800 |
Stüve-Wiedemann Syndrome |
|
Intrauterine growth retardation, Short stature, Thickened cortex of long bones, Osteoporosis, Abn... |
ORPHA:3206 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Rickets |
OMIM:616026 |
Dermatitis Herpetiformis |
|
Recurrent fractures, Microcytic anemia, Bone pain |
ORPHA:1656 |
Dent Disease |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... |
ORPHA:1652 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Wide anterior fontanel, Abnormal cortical bone morphology, Short stature |
OMIM:614886 |
Arthrogryposis, Distal, Type 2A |
|
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Joint contracture of t... |
OMIM:193700 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Increased susceptibility to fractures, Abnormal cortical bone morphology |
ORPHA:2769 |
Rothmund-Thomson Syndrome |
|
Neutropenia, Short stature, Leukemia, Increased susceptibility to fractures, Anemia, Osteopenia, ... |
ORPHA:2909 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Intrauterine growth retardation, Increased susceptibility to fractures, Joint hypermobility, Wide... |
ORPHA:357058 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Anemia, Reduced bone mi... |
OMIM:619377 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Episodic hemolytic anemia, Craniosynostosis, Recurrent fractures, Delayed puberty |
ORPHA:251004 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Osteoporosis, Joint hyperflexibility, Camptodactyly |
ORPHA:90354 |
Mccune-Albright Syndrome |
|
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... |
ORPHA:562 |
Melnick-Needles Syndrome |
|
Short stature, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic defects o... |
ORPHA:2484 |
Nestor-Guillermo Progeria Syndrome |
|
Growth delay, Short stature, Osteoporosis, Osteolytic defects of the distal phalanges of the hand... |
OMIM:614008 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Increased susceptibility to fractures, Generalized joint laxity, Postnatal growth retardation, Os... |
ORPHA:251028 |
Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short stature, Thickened cortex of long bones, Osteoporosis, Knee fle... |
OMIM:601559 |
Pachydermoperiostosis |
|
Osteoporosis, Anemia, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Splenomegaly, ... |
ORPHA:2796 |
Greenberg Dysplasia |
|
Costal cartilage calcification, Absent or minimally ossified vertebral bodies, Abnormal foot bone... |
OMIM:215140 |
Cutis Laxa, Autosomal Dominant 3 |
|
Postnatal growth retardation, Intrauterine growth retardation, Osteopenia |
OMIM:616603 |
Antley-Bixler Syndrome |
|
Elbow ankylosis, Craniosynostosis, Camptodactyly of finger, Joint stiffness, Recurrent fractures |
ORPHA:83 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Osteogenesis Imperfecta, Type Xvi |
|
Joint hypermobility, Rhizomelia, Osteopenia |
OMIM:616229 |
Gaucher Disease |
|
Pancytopenia, Short stature, Anemia, Arthrogryposis multiplex congenita, Abnormal bone structure,... |
ORPHA:355 |
Gaucher Disease, Type I |
|
Anemia, Splenomegaly, Pathologic fracture, Hypersplenism, Pancytopenia, Thrombocytopenia, Avascul... |
OMIM:230800 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Limb pain, Pathologic fracture |
ORPHA:36386 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Short stature, Osteoporosis, Recurrent fractures, Hyperextensibility of the fin... |
OMIM:309583 |
Rin2 Syndrome |
|
Joint hypermobility, Increased susceptibility to fractures |
ORPHA:217335 |
H Syndrome |
|
Short stature, Hepatosplenomegaly, Microcytic anemia, Delayed skeletal maturation, Camptodactyly,... |
ORPHA:168569 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Osteoporosis, Growth delay |
ORPHA:189439 |
Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Short stature, Rhizomelia, Multiple prenatal fractures, Osteope... |
OMIM:610682 |
Kallmann Syndrome |
|
Recurrent fractures, Delayed puberty, Delayed skeletal maturation, Reduced bone mineral density |
ORPHA:478 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Osteoporosis |
ORPHA:189427 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Increased susceptibility to fractures, Osteomalacia, Bone pain, Hypophosphatemic ri... |
ORPHA:3337 |
Familial Dysautonomia |
|
Growth delay, Recurrent fractures, Avascular necrosis, Osteolysis |
ORPHA:1764 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures |
ORPHA:216866 |
Campomelic Dysplasia |
|
Tracheobronchomalacia, Short stature, Recurrent fractures, Tracheomalacia, Poorly ossified cervic... |
ORPHA:140 |
Wilson Disease |
|
Anemia, Arthritis, Splenomegaly, Pathologic fracture, Thrombocytopenia, Bone pain |
ORPHA:905 |
Multiple Myeloma |
|
Anemia, Splenomegaly, Osteopenia, Pathologic fracture, Bone pain |
ORPHA:29073 |
Lysinuric Protein Intolerance |
|
Leukopenia, Short stature, Osteoporosis, Anemia, Splenomegaly, Delayed skeletal maturation, Throm... |
OMIM:222700 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Osteopenia, Postnatal growth retardation, Coronal craniosynostosis, Lambdoidal cra... |
OMIM:616294 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Bone pain, Pathologic fracture |
OMIM:259900 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short stature, Rhizomelia, Osteoporosis, Craniosynostosis, Generalized osteoporosis, Osteopenia, ... |
OMIM:245600 |
Cystinosis |
|
Delayed puberty, Short stature, Rickets |
ORPHA:213 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Rickets |
OMIM:607765 |
Rothmund-Thomson Syndrome Type 2 |
|
Neutropenia, Growth delay, Short stature, Leukemia, Anemia, Finger symphalangism, Abnormal trabec... |
ORPHA:221016 |
X-Linked Hypophosphatemia |
|
Growth delay, Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arth... |
ORPHA:89936 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Rickets, Iron deficiency anemia, Osteoporosis, Osteomalacia |
ORPHA:309031 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Recurrent fractures, Osteomyelitis |
ORPHA:453510 |
Cleidocranial Dysplasia |
|
Short stature, Osteoporosis, Decreased skull ossification, Recurrent fractures, Spina bifida occulta |
ORPHA:1452 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology |
OMIM:612301 |
Prader-Willi Syndrome |
|
Increased susceptibility to fractures, Osteoporosis, Short stature, Osteopenia |
ORPHA:739 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Growth delay, Short stature, Abnormal myeloid leukocyte morphology, Increase... |
ORPHA:79259 |
Hajdu-Cheney Syndrome |
|
Short stature, Foot acroosteolysis, Osteoporosis, Pathologic fracture, Osteopenia, Osteolytic def... |
OMIM:102500 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Short stature, Intrauterine growth retardation, Joint hyperflexibility |
ORPHA:2050 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Osteopetrosis, Craniosynostosis, Anemia, Splenomegaly, Reduced bone mineral density... |
ORPHA:667 |
Wilson Disease |
|
Hemolytic anemia, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis |
OMIM:277900 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Short stature, Rickets, Iron deficiency anemia, Osteoporosis, ... |
OMIM:212750 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Radioulnar synostosis, Short stature, Craniosynostosis, Osteopenia, Flexion contracture, Accelera... |
OMIM:130070 |
Osteogenesis Imperfecta |
|
Bone pain, Intrauterine growth retardation, Growth delay, Short stature, Fractures of the long bo... |
ORPHA:666 |
Severe Congenital Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture |
ORPHA:171430 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Sclerosis of finger phalanx, Limb joint contracture, Increased susceptibility to fractures, Achil... |
ORPHA:404454 |
Brittle Cornea Syndrome 2 |
|
Joint hypermobility, Recurrent fractures |
OMIM:614170 |
Lathosterolosis |
|
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Growth delay, Acanthocytosis... |
OMIM:607330 |
Mucolipidosis Ii Alpha/Beta |
|
Severe postnatal growth retardation, Splenomegaly, Osteopenia, Pathologic fracture |
OMIM:252500 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture |
OMIM:614231 |
Grange Syndrome |
|
Recurrent fractures, Increased susceptibility to fractures |
OMIM:602531 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Radioulnar synostosis, Short stature, Increased susceptibility to fractures, Generalized joint la... |
ORPHA:536471 |
Fanconi-Bickel Syndrome |
|
Growth delay, Osteopenia, Rickets |
ORPHA:2088 |
Cleidocranial Dysplasia |
|
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... |
OMIM:119600 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia, Pathologic fracture |
OMIM:112200 |
Hajdu-Cheney Syndrome |
|
Short stature, Osteoporosis, Coarse metaphyseal trabecularization, Osteopenia, Decreased skull os... |
ORPHA:955 |
Fanconi-Bickel Syndrome |
|
Osteomalacia |
OMIM:227810 |
Craniopharyngioma |
|
Growth delay, Increased susceptibility to fractures, Proportionate short stature, Postnatal growt... |
ORPHA:54595 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Short stature, Osteoporosis, Splenomegaly, Osteopenia, Pathologic fracture, Hypersplenism, Autoim... |
ORPHA:77293 |
Mucopolysaccharidosis Type 3 |
|
Increased susceptibility to fractures, Avascular necrosis of the capital femoral epiphysis, Reduc... |
ORPHA:581 |
Dyskeratosis Congenita |
|
Intrauterine growth retardation, Short stature, Osteoporosis, Anemia, Splenomegaly, Coarse metaph... |
ORPHA:1775 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Recurrent fractures |
OMIM:606056 |
Hypophosphatemic Rickets |
|
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... |
ORPHA:437 |
Osteoglophonic Dysplasia |
|
Increased susceptibility to fractures, Craniosynostosis, Rhizomelia |
OMIM:166250 |
Menkes Disease |
|
Tarsal synostosis, Intrauterine growth retardation, Osteoporosis, Osteomyelitis, Recurrent fractu... |
ORPHA:565 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Severe short stature, Increase... |
ORPHA:2658 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Craniosynostosis, Osteoporosis, Osteopenia, Joint hypermobility, Postnatal growth retardation, Mu... |
ORPHA:536467 |
Classic Homocystinuria |
|
Joint stiffness, Recurrent fractures, Osteoporosis |
ORPHA:394 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Short ... |
ORPHA:93325 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Tracheomalacia, Proportionate short stature, Reduced bone mineral density |
ORPHA:2108 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures, Bone pain |
ORPHA:416 |
Osteogenesis Imperfecta, Type Xx |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Multiple prenatal fra... |
OMIM:618644 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Bone pain |
OMIM:600740 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Short stature, Osteopetrosis, Anemia, Pancytopenia, Thrombocytopenia, Recurrent fract... |
ORPHA:2785 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Rickets, Joint contracture of the hand, Pathologic fracture, Joint hypermobility, ... |
OMIM:309000 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteo... |
ORPHA:2671 |
Kenny-Caffey Syndrome, Type 2 |
|
Short stature, Thickened cortex of long bones, Anemia, Severe short stature, Increased bone miner... |
OMIM:127000 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture |
OMIM:616866 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Proportionate short stature, Thin bony cortex, Short stature |
OMIM:277600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Osteoporosis, Pathologic fracture, Severe short... |
OMIM:271640 |
Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Growth delay, Short stature, Leukemia, Anemia, Finger symphalangism, Abnormal trabec... |
ORPHA:221008 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Osteoporosis, Short stature, Camptodactyly |
ORPHA:3063 |
Faciocardiomelic Syndrome |
|
Dysharmonic bone age, Thin bony cortex, Osteopenia |
OMIM:612731 |
Cerebrotendinous Xanthomatosis |
|
Increased susceptibility to fractures, Osteoporosis, Osteopenia |
ORPHA:909 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Anemia, Splenomegaly |
OMIM:239200 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Intrauterine growth retardation, Short stature, Rickets, Growth delay, Anemia, ... |
OMIM:613658 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures |
ORPHA:457059 |
Lysinuric Protein Intolerance |
|
Leukopenia, Osteoporosis, Anemia, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Delayed sk... |
ORPHA:470 |
Oculodentodigital Dysplasia |
|
Cranial hyperostosis, Hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger |
ORPHA:2710 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Flexion contracture of toe, Short stature, Proportionate short stature, Delayed... |
OMIM:608328 |
Keppen-Lubinsky Syndrome |
|
Increased susceptibility to fractures, Postnatal growth retardation, Flexion contracture |
ORPHA:435628 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Rickets |
ORPHA:411629 |
Frank-Ter Haar Syndrome |
|
Growth delay, Osteoporosis, Osteopenia, Wide anterior fontanel, Cortical irregularity, Camptodactyly |
OMIM:249420 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Anemia, Arthritis, Recurrent fractures, Joint stiffness, Thrombocytopenia, Osteoma... |
ORPHA:534 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Cystinosis, Nephropathic |
|
Growth delay, Short stature, Rickets, Splenomegaly, Delayed skeletal maturation, Delayed puberty,... |
OMIM:219800 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Intrauterine growth retardation, Pathologic fracture |
ORPHA:90349 |
Occipital Horn Syndrome |
|
Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Osteopenia, Synostosi... |
ORPHA:198 |
Aspartylglucosaminuria |
|
Abnormal cortical bone morphology, Arthritis, Splenomegaly, Delayed skeletal maturation, Joint st... |
ORPHA:93 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Intrauterine growth retardation, Rickets, Osteoporosis, Osteopenia, Severe short stature, Delayed... |
ORPHA:2636 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Neurofibromatosis Type 1 |
|
Short stature, Leukemia, Chronic myelogenous leukemia, Joint stiffness, Recurrent fractures, Dela... |
ORPHA:636 |
Aspartylglucosaminuria |
|
Neutropenia, Short stature, Vacuolated lymphocytes, Pathologic fracture, Delayed skeletal maturat... |
OMIM:208400 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Arthritis, Splenomegaly, Osteom... |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Osteomalacia, Hypophosphatemic rickets, Fused cervica... |
ORPHA:51608 |
Mowat-Wilson Syndrome |
|
Growth delay, Asplenia, Short stature, Delayed skeletal maturation, Flexion contracture, Recurren... |
ORPHA:2152 |