| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... |
OMIM:601344 |
| Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... |
OMIM:613628 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture... |
OMIM:184255 |
| Gurrieri Syndrome |
|
Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver... |
OMIM:601187 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga |
OMIM:601370 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
|
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Mic... |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flatten... |
ORPHA:93356 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me... |
OMIM:609324 |
| Fibrodysplasia Ossificans Progressiva |
|
Short 1st metacarpal, Broad femoral neck, Small cervical vertebral bodies, Progressive cervical v... |
OMIM:135100 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... |
ORPHA:93352 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... |
OMIM:222600 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb s... |
ORPHA:2347 |
| Richieri Costa-Da Silva Syndrome |
|
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... |
ORPHA:3101 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Opsismodysplasia |
|
Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas... |
ORPHA:2746 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Avascular Necrosis Of Femoral Head, Primary, 2 |
|
Platyspondyly, Avascular necrosis of the capital femoral epiphysis |
OMIM:617383 |
| Dysosteosclerosis |
|
Platyspondyly, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Abnormal metap... |
ORPHA:1782 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis, Camptodactyly of finger |
ORPHA:3180 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver... |
OMIM:609223 |
| Dysosteosclerosis |
|
Platyspondyly, Short diaphyses, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, ... |
OMIM:224300 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Hypoplastic vertebral bodi... |
ORPHA:2916 |
| Infantile Liver Failure Syndrome 3 |
|
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... |
OMIM:618641 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Fibula... |
ORPHA:3144 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, Coarse metaphy... |
ORPHA:2635 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... |
OMIM:619598 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Opsismodysplasia |
|
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... |
OMIM:258480 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... |
ORPHA:1802 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Bea... |
ORPHA:40 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... |
ORPHA:93315 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Hypoplast... |
ORPHA:3027 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... |
OMIM:112350 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ... |
ORPHA:2163 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... |
ORPHA:93307 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes equinovarus, Short neck, Aplasia/Hypoplasia... |
OMIM:108720 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies,... |
OMIM:230600 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Irregularity ... |
ORPHA:85172 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... |
OMIM:101800 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:628 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Short thumb, Rad... |
OMIM:201250 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small ep... |
OMIM:608728 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Hypoplastic cervical vertebrae, Small epiphyses, Lumbar scoliosis, Adducted thumb, Short long bon... |
OMIM:620269 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial i... |
ORPHA:79345 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... |
OMIM:271650 |
| Atelosteogenesis Type Iii |
|
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Short tubular bones of the h... |
ORPHA:56305 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... |
OMIM:184252 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... |
OMIM:184250 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, Acetabular dysplasi... |
ORPHA:79255 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial i... |
OMIM:607326 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... |
OMIM:615222 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Micrognathia, Genu valgum, Short neck, Broad phalanx, Bilateral t... |
ORPHA:56304 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
| Fibrochondrogenesis 1 |
|
Platyspondyly, Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones... |
OMIM:228520 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... |
OMIM:228930 |
| Brachydactyly, Type B1 |
|
Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Cutaneou... |
OMIM:113000 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Small cervical vertebral bodies, Cervical spinal canal stenosis, Twelfth r... |
ORPHA:397715 |
| Gm1-Gangliosidosis, Type I |
|
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis |
OMIM:230500 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Broad thumb, Broad hallux |
OMIM:272200 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... |
OMIM:184100 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibular synostosis, A... |
OMIM:200700 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral defor... |
OMIM:264180 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... |
OMIM:619638 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodies, Short ne... |
OMIM:252940 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu... |
OMIM:223800 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... |
OMIM:308050 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora... |
ORPHA:93284 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Platyspondyly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasi... |
OMIM:226980 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ... |
OMIM:600785 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finge... |
OMIM:618853 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... |
OMIM:186500 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral dimple |
OMIM:182940 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Pointed p... |
OMIM:253000 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... |
OMIM:300232 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Micromelia, Radial bowing, Flared metaphysis, Dumbbell-shaped humerus, Micrognathi... |
OMIM:211350 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Femoral b... |
OMIM:100800 |
| Larsen Syndrome |
|
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Hip dislocation, Accessory carp... |
OMIM:150250 |
| Osteogenesis Imperfecta, Type Xiv |
|
Femoral bowing, Scoliosis |
OMIM:615066 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Platyspondyly, Hypoplastic ilia, Flared metaphysis, Femoral bow... |
OMIM:187600 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Rhizomelia, Metaphyseal irregularity, Metaphyseal cupping, Flared metaphysis, Shor... |
OMIM:608940 |
| Kniest Dysplasia |
|
Platyspondyly, Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid p... |
ORPHA:485 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis... |
OMIM:134780 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Talipes equinovarus, Neonat... |
ORPHA:35173 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... |
ORPHA:85165 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Camptodactyly of finger, Cervical vertebral dysplasia, Short humerus, Kyphoscol... |
ORPHA:3455 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... |
OMIM:620076 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Femoral bowing, Scoliosis |
OMIM:126550 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ... |
OMIM:105650 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... |
OMIM:602080 |
| Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Hypoplastic 5th ... |
ORPHA:955 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of the capi... |
OMIM:253010 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, T... |
OMIM:307800 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lum... |
OMIM:183900 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Proximal femoral epiphysiolysis, Overlapping toe, Small epiphyses, Femoral bowing,... |
OMIM:616723 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Vertebral com... |
OMIM:617952 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Missing ribs, Hemivertebrae, Vertebral fusion, Vertebral hypoplasia |
OMIM:206900 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Radial bowing, Foot oligodactyly, A... |
ORPHA:2879 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, 11 pairs of ribs, Micrognathia, Femoral bowing... |
ORPHA:140 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Micrognathia, Long fingers, Bilatera... |
OMIM:619512 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Delayed epiphyseal ossification, Congenital hip dislocation, Metaphyseal irregularity, Hypoplasia... |
OMIM:616007 |
| Mesomelia-Synostoses Syndrome |
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Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognath... |
OMIM:600383 |
| Spondylocarpotarsal Synostosis Syndrome |
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Epiphyseal dysplasia, Block vertebrae, Hypoplasia of the odontoid process, Abnormal pelvic girdle... |
OMIM:272460 |
| Geroderma Osteodysplasticum |
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Platyspondyly, Hyperextensibility of the finger joints, Femoral bowing, Biconcave vertebral bodie... |
OMIM:231070 |
| White-Sutton Syndrome |
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Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Short neck, Brachydactyly |
OMIM:616364 |
| Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh... |
OMIM:271665 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy... |
OMIM:615503 |
| Cartilage-Hair Hypoplasia |
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Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... |
OMIM:250250 |
| Osteogenesis Imperfecta, Type Viii |
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Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Femoral... |
OMIM:610915 |
| Achondrogenesis, Type Ia |
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Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic sacrum, Severe limb shortening, Mi... |
OMIM:200600 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... |
ORPHA:508533 |
| Sirenomelia |
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Absence of the sacrum, Sirenomelia, Aplasia/Hypoplasia of the radius |
ORPHA:3169 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly,... |
OMIM:305400 |
| Codas Syndrome |
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Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... |
OMIM:600373 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
| Iniencephaly |
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Rhizomelia, Absent vertebra, Talipes equinovarus, Hyperlordosis, Mandibular aplasia, Rocker botto... |
ORPHA:63259 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Anterior wedgin... |
OMIM:253200 |
| Mucolipidosis Ii Alpha/Beta |
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Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Currarino Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma |
ORPHA:1552 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Hypoplasia of the femoral head, S... |
OMIM:607014 |
| Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
| Marshall-Smith Syndrome |
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Atlantoaxial dislocation, Short distal phalanx of finger, Microretrognathia, Hypoplasia of the od... |
OMIM:602535 |
| Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Genu valgum, Partial duplication of thumb phalanx, Hemivertebrae, ... |
OMIM:164210 |
