Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Coxa vara, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... |
OMIM:609324 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu... |
OMIM:609325 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Joint stiffness, Generalized joint laxity,... |
OMIM:132400 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... |
OMIM:613073 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... |
OMIM:271530 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... |
ORPHA:1952 |
Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, Osteolysis, Bo... |
OMIM:602080 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... |
ORPHA:94068 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Femoral-Facial Syndrome |
|
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Flattened femoral head, Coxa vara, Hip contracture, Broad femoral neck, Short femoral neck, Arthr... |
ORPHA:99642 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Limitation of joint mobility, Talipes equinovarus, Short femur, Fem... |
OMIM:211350 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... |
OMIM:601668 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... |
OMIM:616897 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... |
ORPHA:1860 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Broad femoral neck, Flattened ep... |
ORPHA:157965 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Short femur |
OMIM:601357 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... |
OMIM:600081 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing |
OMIM:615066 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... |
OMIM:112350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short ribs, Short humeru... |
OMIM:607143 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notc... |
OMIM:602557 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:300554 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... |
ORPHA:93314 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Premature os... |
ORPHA:93284 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis |
ORPHA:1522 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Subperiosteal ... |
OMIM:264700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Absent knee epiphyses, Flexion contractu... |
OMIM:210710 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecular bone morphology |
ORPHA:83451 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Femoral bowing, Short ribs |
OMIM:618188 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Osteoporosis, Femoral bowing |
OMIM:126550 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Czech Dysplasia |
|
Coxa vara, Short toe, Limitation of joint mobility, Flat capital femoral epiphysis, Flexion contr... |
OMIM:609162 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Joint hypermobility, Short femur |
OMIM:617798 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Radial bowing, Short metacarpal, Femo... |
OMIM:610915 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... |
OMIM:259710 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Flared... |
OMIM:259700 |
Ollier Disease |
|
Joint stiffness, Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis |
ORPHA:296 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypopla... |
ORPHA:2839 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Broad distal phal... |
OMIM:300990 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Apla... |
OMIM:276820 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Polydactyly, Flexion contracture, Short femur |
ORPHA:17 |
Dent Disease |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... |
ORPHA:1652 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, Increased bone mineral density, Osteopetrosis, Micrognathia, High iliac wing, S... |
ORPHA:2780 |
Rothmund-Thomson Syndrome Type 1 |
|
Metaphyseal sclerosis, Osteopenia, Metaphyseal striations, Short phalanx of finger, Abnormal ulna... |
ORPHA:221008 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia |
OMIM:617306 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the... |
ORPHA:2769 |
Rothmund-Thomson Syndrome Type 2 |
|
Metaphyseal sclerosis, Osteopenia, Metaphyseal striations, Short phalanx of finger, Abnormal ulna... |
ORPHA:221016 |
Rothmund-Thomson Syndrome |
|
Reduced bone mineral density, Broad ulna, Osteopenia, Aplasia/Hypoplasia of the patella, Metaphys... |
ORPHA:2909 |
Wiedemann-Rautenstrauch Syndrome |
|
Talipes equinovarus, Flexion contracture, Short femur, Hypoplastic ilia, Micrognathia, Short hume... |
OMIM:264090 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis |
OMIM:259730 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology, Femur fracture |
OMIM:612301 |
Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Hypoplastic vertebral bodies, Joint hypermobility, Short femur, Osteopenia, H... |
ORPHA:3455 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromelia, Abnormal me... |
ORPHA:2636 |
8Q24.3 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Microretrognathia, Abnormal cricoid cartilage morphology, Short f... |
ORPHA:508488 |
Femoral-Facial Syndrome |
|
Short fifth metatarsal, Hypoplastic acetabulae, Talipes equinovarus, Short fourth metatarsal, Mic... |
OMIM:134780 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of finger, Limitation of joint mobility, Increased bone mineral density, Elbow ankylo... |
ORPHA:2658 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteolysis |
ORPHA:2396 |
Multiple Osteochondromas |
|
Arthritis, Limitation of knee mobility, Abnormal cartilage morphology, Limited hip movement, Limi... |
ORPHA:321 |