Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of ... |
ORPHA:3104 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis... |
OMIM:277950 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Hip... |
OMIM:616471 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form o... |
ORPHA:40 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Talipes equinovarus, Elevated circulating creatine kinase concentratio... |
OMIM:600175 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... |
ORPHA:1350 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Elevated circulating creat... |
OMIM:600969 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Radioulnar synostosis, Abnormality of the elbow, Finge... |
ORPHA:3268 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Hypoproteinemia |
ORPHA:1116 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly, Scoliosis, Decreased LDL choles... |
ORPHA:79320 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contr... |
ORPHA:75840 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Flexion contracture, Hypoproteinemia, Single transverse palmar cr... |
OMIM:608093 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Scoliosis, Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Elevated circulating creatine kinase ... |
OMIM:300718 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Progressive Pseudorheumatoid Dysplasia |
|
Coxa vara, Joint stiffness, Joint swelling, Kyphoscoliosis, Enlarged metacarpophalangeal joints, ... |
OMIM:208230 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Elevated circulating... |
ORPHA:85435 |
Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Flared iliac wing, Increased serum bet... |
OMIM:252605 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimenta... |
OMIM:249700 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... |
ORPHA:3266 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
Bruck Syndrome 1 |
|
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... |
OMIM:313420 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Talipes equinovarus, Elevated circulating creatine kinase concentratio... |
OMIM:615290 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperostosis, Hypoalbuminemia, Periostosis, Clubbing |
OMIM:614441 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Hypoalbuminemia |
ORPHA:79327 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Scoliosis, Tremor, Hypoalbuminemia, Hyperchol... |
OMIM:208920 |
Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density, Elevated circulating creatine kinase concentration... |
ORPHA:262 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Elevated circulating creatine kinase concentration, Sand... |
OMIM:619040 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing of fingers, Hypoalbuminemia, Hypoproteinemia, Clubbing |
OMIM:226300 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... |
ORPHA:429 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones |
OMIM:618392 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... |
OMIM:184252 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Wo... |
OMIM:619795 |
Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... |
ORPHA:971 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Acrodysostosis |
|
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-sha... |
ORPHA:950 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Flexion contracture... |
OMIM:618484 |
Autosomal Dominant Brachyolmia |
|
Abnormal metaphysis morphology, Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Tapered finger, Foot joint contracture, Talipes equinovarus, Flexion... |
ORPHA:536516 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... |
ORPHA:2771 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Hypopla... |
ORPHA:93359 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... |
OMIM:130060 |
Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Increased bone mine... |
ORPHA:628 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation |
OMIM:300434 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Elevated circulating creatine kinase... |
OMIM:614727 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... |
OMIM:230650 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Flexion contracture, Overlapping fingers, Congenital hip dislocati... |
OMIM:618291 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Short neck, Abnormality of the humerus, Brachydactyly, ... |
ORPHA:3098 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Short neck, Abnormal morphology of ulna |
ORPHA:2233 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Deviatio... |
OMIM:609128 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Congenital hip dislocation, Elevat... |
OMIM:300280 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoplasia of the femoral head, Hypoalbuminemia |
OMIM:209950 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... |
OMIM:259440 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... |
OMIM:618393 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Hypercholest... |
OMIM:616730 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Postaxial hand polydactyly, Hypocalcemia, Short neck, Hypoproteinemia |
OMIM:235255 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Short neck, Camptodactyly, Elevated circulating creatinine concentration, Hy... |
OMIM:608104 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation, Dystonia |
OMIM:616756 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Tombstone... |
OMIM:108721 |
Ruvalcaba Syndrome |
|
Kyphosis, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Scoliosis, Sh... |
OMIM:180870 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Brachydactyly, Ost... |
OMIM:234250 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... |
OMIM:142900 |
Widow'S Peak Syndrome |
|
Kyphosis, Recurrent patellar dislocation, Abnormality of the hand, High iliac wing, Arthralgia of... |
OMIM:314570 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Kyphosis, Mesomelic/rhizom... |
ORPHA:1354 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Flexion contracture, Osteopenia, Short humerus, Scoliosis, Rhizome... |
OMIM:222765 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... |
OMIM:612847 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Abno... |
ORPHA:321 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... |
OMIM:301900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... |
ORPHA:94068 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Talipes equinovarus, Congenital hip dislocation, Ele... |
ORPHA:597 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Ankle clonus, Scoliosis, Tremor, Short foot, Dystonia |
OMIM:617435 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... |
OMIM:619636 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Kyphosis, Talipes equinovarus, Spinal rigidity, Increased laxity of fingers, Flexion... |
OMIM:254090 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Back pain, Abnormality of the hand, Osteoporosis, Abnormal form of the ... |
ORPHA:2583 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Cub... |
OMIM:248800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Talipes equinovarus, Joint contracture of the hand, Small hand, Coronal craniosynostosis, Scolios... |
OMIM:235510 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hypoproteinemia |
OMIM:615895 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Talipes equinovarus, Hand clenching, Short neck, Scoliosis, Single transverse palmar cr... |
OMIM:611890 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... |
OMIM:602080 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... |
OMIM:255800 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Large elbow, Kyphosis, Constricted iliac wing,... |
OMIM:253000 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scolios... |
ORPHA:263463 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Br... |
OMIM:619638 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Short nec... |
ORPHA:3409 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Arachnodactyly, Bilateral single transverse palmar creases, Scoliosis |
ORPHA:1548 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Elbow flexion contracture, Proximal... |
OMIM:618138 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Hypocalcemia, Short neck, Hypoproteinemia |
ORPHA:1655 |
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 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... |
ORPHA:1858 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Femoral retroversion, Femoral bowing... |
OMIM:610915 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, Kyphosis, Long hallux, Flexion contracture, Absent distal phalanx... |
OMIM:618658 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Constricted iliac wing, Metaphyseal ... |
OMIM:253010 |
Masa Syndrome |
|
Kyphosis, Talipes equinovarus, Hyperlordosis, Adducted thumb |
OMIM:303350 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... |
OMIM:143095 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... |
ORPHA:1328 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... |
ORPHA:3454 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flared iliac wing, Flexion contracture, Metaphyseal widening, Short neck, Hypoalbuminemia, Acetab... |
OMIM:617303 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Achondroplasia |
|
Spinal canal stenosis, Bowing of the legs, Kyphosis, Lumbar hyperlordosis, Abnormal iliac wing mo... |
ORPHA:15 |
Holt-Oram Syndrome |
|
Joint stiffness, Kyphosis, Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Scol... |
ORPHA:392 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... |
ORPHA:582 |
Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal metacarpal ... |
ORPHA:2167 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, Abnormal cort... |
OMIM:300831 |
Alg12-Cdg |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossification, Overlapping fing... |
ORPHA:79324 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Kyphosis, Decreased calvarial ossification, Biconcave vertebr... |
OMIM:259420 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Shoulder ... |
OMIM:606612 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation, Talipes equi... |
ORPHA:56305 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Intention tremor, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the ... |
ORPHA:48431 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Frank-Ter Haar Syndrome |
|
Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Genu recurvatum, Beaking of vertebral ... |
ORPHA:137834 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... |
OMIM:614856 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypoplasia of the rad... |
ORPHA:1307 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Scoliosis, Arthritis, Osteo... |
ORPHA:324964 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... |
ORPHA:1427 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... |
OMIM:269250 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Osteoporosis |
OMIM:618234 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Platyspondyly, Micromelia, Hypoplasia of the... |
ORPHA:85166 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Distal upper limb amyotrophy, Kyphosis, Scoliosis |
ORPHA:101075 |
Clark-Baraitser syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Broad palm, Genu valgum, Joint laxity, Shor... |
OMIM:300602 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... |
OMIM:164745 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
2Q31.1 Microdeletion Syndrome |
|
Vertebral segmentation defect, Ectrodactyly, Kyphosis, Clinodactyly of the 5th finger, Abnormal m... |
ORPHA:251014 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Flexion contracture, Elevated circulating creatine kinase concentratio... |
ORPHA:171436 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Hydroxyprolinemia, Osteopenia, Sho... |
OMIM:239000 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... |
ORPHA:2491 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Single transverse palmar crease, Clinodacty... |
ORPHA:178148 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Avascular nec... |
OMIM:184100 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Alpha-Mannosidosis |
|
Kyphosis, Short neck, Scoliosis, Synostosis of joints, Arthritis, Hypoplastic inferior ilia, Bowi... |
ORPHA:61 |
Shashi-Pena Syndrome |
|
Kyphosis, Deep palmar crease, Scoliosis, Osteoporosis |
OMIM:617190 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodactyly, Proximal femora... |
OMIM:113500 |
Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Genu valgum, Generalized bone demineralization, Meta... |
ORPHA:3101 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Hallux valgus, Scoliosis, Broad proximal phalanges of the hand |
ORPHA:505652 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Decreased calvari... |
OMIM:617866 |
Sillence Syndrome |
|
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... |
ORPHA:3168 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli... |
OMIM:610968 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Broad palm, Genu valgum, Joint laxity, Shor... |
OMIM:300431 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... |
ORPHA:2911 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili... |
OMIM:169550 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Flexion contracture, Intention tremor, Osteopenia, Tremor, Hypocholesterolemia, Hypoalb... |
OMIM:212065 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... |
OMIM:183900 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... |
OMIM:211350 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Congenital hip dislocation,... |
ORPHA:2616 |
Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Osteoporosis, Hypoalbuminemia, Scoliosis |
OMIM:619487 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis, Massively thickened long bone cortices, Brachydactyly, Micromelia, Limb undergrowth |
OMIM:122900 |
Patterson Pseudoleprechaunism Syndrome |
|
Joint swelling, Kyphoscoliosis, Palmoplantar cutis laxa, Cervical platyspondyly, Ovoid thoracolum... |
OMIM:169170 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Reduced bone mineral density, Femoral bowing present at birth, str... |
OMIM:166220 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar keratoderma, Decreased ... |
OMIM:242150 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187601 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Abnormal form of the vert... |
ORPHA:1788 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Hypomelanosis Of Ito |
|
Kyphosis, Syndactyly, Scoliosis, Radial deviation of finger, Clinodactyly, Hand polydactyly |
OMIM:300337 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Multiple Myeloma |
|
Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine concentration,... |
ORPHA:29073 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Arachnodactyly, Kyphosis, Joint laxity |
OMIM:248760 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Talipes equinovarus, Joint subluxation, Hyperextensibility of the finger joints, Scolio... |
OMIM:617821 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxation, Delayed closure of the... |
OMIM:259600 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly |
OMIM:618476 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum |
ORPHA:2983 |
Ruvalcaba Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostos... |
ORPHA:3121 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... |
OMIM:186500 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Multinucleated giant chondrocytes in epip... |
OMIM:108720 |
Carpenter Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Po... |
ORPHA:65759 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Shoulder ... |
OMIM:607155 |
Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... |
ORPHA:1798 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Martsolf Syndrome 1 |
|
Short toe, Lumbar hyperlordosis, Talipes equinovarus, Thoracic scoliosis, Slender ulna, Finger jo... |
OMIM:212720 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Thanatophoric Dysplasia |
|
Joint stiffness, Kyphosis, Platyspondyly, Micromelia, Brachydactyly, Abnormal ilium morphology, A... |
ORPHA:2655 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hand tremor, Chondrocalcinosis, O... |
OMIM:277900 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Postaxial polydactyly, Broad distal phalanx of finger, Scoliosis, Hyperlordosis, Sandal... |
OMIM:615761 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Talipes equinovarus, Hyperbili... |
ORPHA:14 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility, Limb dystonia, Upper limb hypertonia |
ORPHA:319199 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Femoral retroversion, Micromelia, Scoliosis, Hypoplastic scapulae, Generalized dystonia |
ORPHA:79107 |
Czech Dysplasia |
|
Irregular vertebral endplates, Coxa vara, Short toe, Limitation of joint mobility, Flat capital f... |
OMIM:609162 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Abnormal circulating lipid concentration, Short neck, Synostosis of carpal bones, Scoli... |
ORPHA:3191 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Kyphosis, Scoliosis |
ORPHA:101078 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... |
ORPHA:2916 |
Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Arachnodactyly, Osteoa... |
OMIM:108300 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Kyphosis, Scapular muscle atrophy, Talipes equinovarus, Small hand, Scoliosis, Hyper... |
OMIM:181405 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia |
OMIM:619055 |
Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Hypoplasia of the ulna, ... |
OMIM:619135 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Decreased hip abduction, Lumbar hyperlordosis, Talipes equinovarus, Kyphoscolios... |
OMIM:114300 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Genu valgum, Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis |
OMIM:255710 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Talipes equinovarus, Flexion contracture, Short humerus, Delayed ossifica... |
OMIM:602471 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hip dislocation, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... |
OMIM:210720 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Ulnar deviation of finger, Bowing of the long bones, Patellar dislocation... |
OMIM:121050 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... |
ORPHA:2769 |
Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Cleidocranial Dysplasia |
|
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Recurrent fractures, Down-sloping sho... |
ORPHA:1452 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave vertebral bo... |
OMIM:610319 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... |
OMIM:619797 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Tremor, Hypo... |
ORPHA:167 |
Baralle-Macken Syndrome |
|
Kyphosis, Dystonia, Tapered finger |
OMIM:619255 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... |
ORPHA:1988 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Crumpled long bones, Wormian bones, Scoliosis, Abnormal form of th... |
ORPHA:2050 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigidity |
OMIM:615084 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Galloway-Mowat Syndrome 1 |
|
Talipes equinovarus, Slender finger, Joint contracture of the hand, Camptodactyly, Hypoalbuminemi... |
OMIM:251300 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... |
OMIM:602418 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... |
OMIM:231070 |
Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Brachydactyly, Scoliosis, Abnorm... |
ORPHA:3219 |
Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, Micromel... |
ORPHA:1860 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Osteomyelitis, Elevated circulating creatine kinase concentration, Abnormality of t... |
ORPHA:36234 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Small hand, Short neck, Micromelia, Scoliosis, Tremor, Short foot, Short palm, Toe synd... |
ORPHA:238750 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb, Radioulnar synosto... |
ORPHA:3258 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Dystonia, Juvenile-Onset |
|
Leg dystonia, Kyphoscoliosis, Oculogyric crisis, Hypoplastic scapulae, Generalized dystonia |
OMIM:607371 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... |
OMIM:194350 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Decreased palmar creases, Joint contracture of the hand, Scoliosis, Narrow palm, Joint ... |
ORPHA:352490 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Hemivertebrae, Short neck, R... |
ORPHA:958 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Split hand, Kyphosis, Scoliosis |
OMIM:618124 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Arachnodactyly, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger |
ORPHA:1883 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Flexion contracture |
ORPHA:367 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Lumbar hyperlordosis, Flexion contracture, Deep palmar crease, Short neck, Thora... |
ORPHA:505248 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Dystonia, Flexion contracture |
OMIM:618237 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Clubbing |
OMIM:174900 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Fibrochondrogenesis 1 |
|
Short palm, Widely patent coronal suture, Widely patent sagittal suture, Clinodactyly of the 5th ... |
OMIM:228520 |
Schaaf-Yang Syndrome |
|
Kyphosis, Flexion contracture, Small hand, Brachydactyly, Scoliosis, Tapered finger, Camptodactyl... |
OMIM:615547 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Xfe Progeroid Syndrome |
|
Scoliosis, Hypoalbuminemia |
OMIM:610965 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Osteopenia, Scoliosis, Genu varum, Tapered finger, Metatarsus valgus, Hypercholesterole... |
ORPHA:2479 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th f... |
OMIM:272460 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Bilateral single transverse palmar creases, Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Dystonia, Kyphosis, Joint hyperflexibility, Upper limb hypertonia |
OMIM:614898 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Sacral dimple, Elbow dislocation, Join... |
ORPHA:536532 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Talipes equinovarus, Congenital foot contractures, Palmar hyperkeratosis, Short neck, S... |
OMIM:314580 |
Mucopolysaccharidosis, Type Vii |
|
Proximal tapering of metacarpals, Joint stiffness, Kyphosis, Talipes equinovarus, Narrow greater ... |
OMIM:253220 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Kyphosis, Short humerus... |
ORPHA:420794 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Decreased palmar creases, Clinodactyly of the 5th finger, Scoliosis, Arthrogryposis mul... |
OMIM:615834 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormality of the vertebral column, Short humerus, Abnormal vertebral morphology, Hand polydacty... |
OMIM:314390 |
Mucolipidosis Ii Alpha/Beta |
|
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... |
OMIM:252500 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Abnormally ossified vertebr... |
ORPHA:1512 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Brachyd... |
ORPHA:1005 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Oromandibular dystonia, Kyphosis, Blepharospasm, Scolio... |
OMIM:128100 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Femoral bowing, Hypoplastic ilia, Fla... |
OMIM:187600 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Kyphosis, Short neck, Genu valgum, Ovoid vertebral bodies,... |
ORPHA:583 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Sac... |
OMIM:600920 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Hypophosphatemic rickets, Tibial bowing, Distal femoral bo... |
ORPHA:289176 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Marshall Syndrome |
|
Clinodactyly of the 5th finger, Radial bowing, Hypoplastic ilia, Clinodactyly of the 4th finger, ... |
OMIM:154780 |
Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... |
ORPHA:2876 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, Genu valgum, Hip sub... |
OMIM:271640 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis, Limitation of joint mobility |
ORPHA:1545 |
Mend Syndrome |
|
Overlapping toe, Kyphosis, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers |
OMIM:300960 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Ivic Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... |
ORPHA:2307 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... |
OMIM:263540 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Short neck, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Flat capital fe... |
OMIM:271510 |
Achondrogenesis, Type Ia |
|
Bowing of the legs, Short clavicles, Severe limb shortening, Talipes equinovarus, Hypoplastic sac... |
OMIM:200600 |
Sialidosis Type 2 |
|
Tremor, Kyphosis, Osteoporosis, Flexion contracture |
ORPHA:87876 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Abnormal circulating selenium concentration, Decreased serum iron, Decreased... |
ORPHA:89842 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
ORPHA:352447 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormian bones, Narrow iliac wing, ... |
OMIM:616294 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Pill-rolling tremor, Scoliosis, Tremor, Short foot, Dystonia |
ORPHA:3095 |
Pycnodysostosis |
|
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Scoliosis, Hyperlordosis, Joint la... |
ORPHA:763 |
Juvenile Polyposis Of Infancy |
|
Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Clubbing of fingers, Broad phalanx of the... |
ORPHA:79076 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Flexion contracture, Absent middle phalanx of 3rd finger, Abs... |
OMIM:308050 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr... |
ORPHA:186 |
Becker Nevus Syndrome |
|
Kyphosis, Micromelia, Scoliosis, Spina bifida occulta, Abnormality of tibia morphology, Upper lim... |
ORPHA:64755 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Opisthotonus... |
ORPHA:508533 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Brachydactyly, Micromelia, Joint hyperflexibility, Abnormal metaphysis m... |
ORPHA:93274 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short femur, Hypoplasia of the radius, Sh... |
OMIM:607143 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis, Dystonia |
ORPHA:464282 |
Osteoglophonic Dysplasia |
|
Broad metacarpals, Broad phalanx, Craniosynostosis, Short neck, Platyspondyly, Short phalanx of f... |
OMIM:166250 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Joint stiffness, Kyphosis, Spinal rigidity, Proximal radio-ulnar synostosis, Hemivertebrae, Abnor... |
ORPHA:2062 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Reduced bone mineral density, Osteopenia, Scoliosis, Thin bony cortex, Joint laxity... |
OMIM:613658 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormality of fibula morphology, Bo... |
ORPHA:3035 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Toe clinodactyly, Hyperlipidemia, Craniosynostosis, Dee... |
ORPHA:254346 |
Distal 16P11.2 Microdeletion Syndrome |
|