Gene Summary

Name:
translocating chain-associating membrane protein 2
Synonyms:
C330003D03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spine curvature Tram2tm1a(KOMP)Wtsi HOM Early adult 1.08×10-05
abnormal joint morphology Tram2tm1a(KOMP)Wtsi HOM Early adult 5.46×10-16
decreased bone mineral content Tram2tm1a(KOMP)Wtsi HOM Early adult 5.32×10-09
absent pinna reflex Tram2tm1a(KOMP)Wtsi HOM Early adult 2.99×10-18
abnormal radius morphology Tram2tm1a(KOMP)Wtsi HOM Early adult 3.56×10-08
abnormal scapula morphology Tram2tm1a(KOMP)Wtsi HOM Early adult 3.25×10-15
increased circulating amylase level Tram2tm1a(KOMP)Wtsi HOM Early adult 2.63×10-05
kyphosis Tram2tm1a(KOMP)Wtsi HOM Early adult 2.92×10-06
decreased bone mineral density Tram2tm1a(KOMP)Wtsi HOM Early adult 6.37×10-16
increased circulating alkaline phosphatase level Tram2tm1a(KOMP)Wtsi HOM Early adult 3.40×10-06
decreased circulating serum albumin level Tram2tm1a(KOMP)Wtsi HOM Early adult 1.96×10-05
increased grip strength Tram2tm1a(KOMP)Wtsi HOM Early adult 5.42×10-06
abnormal vertebral arch morphology Tram2tm1a(KOMP)Wtsi HOM   Early adult 2.10×10-07
decreased circulating total protein level Tram2tm1a(KOMP)Wtsi HOM   Early adult 2.46×10-05
abnormal ulna morphology Tram2tm1a(KOMP)Wtsi HOM Early adult 3.53×10-06
abnormal humerus morphology Tram2tm1a(KOMP)Wtsi HOM   Early adult 4.58×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 172 images

Human diseases caused by Tram2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tram2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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, Rodríguez 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