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Gene: Dll3 MGI:1096877

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

delta like canonical Notch ligand 3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Dll3 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.

Human diseases associated with Dll3 (2 diseases)
Human diseases predicted to be associated with Dll3 (1295 diseases)

The table below shows human diseases associated to Dll3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spondylocostal Dysostosis 1, Autosomal Recessive		Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,...	OMIM:277300
Autosomal Recessive Spondylocostal Dysostosis		Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyly of finger, Umbilica...	ORPHA:2311

The table below shows human diseases predicted to be associated to Dll3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fascial Dystrophy, Congenital	Lower-limb joint contracture, Abnormal thorax morphology, Limitation of joint mobility	OMIM:228020
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Cervical Rib	Cervical ribs	OMIM:117900
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,...	OMIM:277300
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis	ORPHA:85193
Mycetoma	Abnormal form of the vertebral bodies, Paraplegia, Abnormal thorax morphology, Osteoporosis, Vert...	ORPHA:2583
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Sprengel Deformity	Rib segmentation abnormalities, Spina bifida occulta, Sprengel anomaly, Hemivertebrae, Neck muscl...	OMIM:184400
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme...	ORPHA:66637
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Abnormal form of the vertebral bodies, Biconcave vertebral bodie...	ORPHA:2078
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Narrow chest, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip ...	OMIM:602484
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Biconcave vertebral bodies, Thin bony cortex, Generalized osteoporosis, Vertebral comp...	OMIM:617952
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol...	ORPHA:2345
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B...	ORPHA:40
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Thoracic hypoplasi...	ORPHA:93352
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Brachyolmia, Maroteaux Type	Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis	ORPHA:93302
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida oc...	ORPHA:64755
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures...	OMIM:616229
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Biconcave vertebral bodies, Kyphoscoliosis, Vertebral compression ...	OMIM:610968
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis	ORPHA:93304
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Narrow chest, Osteopenia, Thoracic hypoplasia, Broad ribs, Thoracic sco...	OMIM:613848
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc...	ORPHA:3268
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Tetraparesis, Sclerosis of skull base, Osteosclerosis of...	OMIM:602080
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Hip contracture, K...	OMIM:615290
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert...	OMIM:609223
Nemaline Myopathy 5C, Autosomal Dominant	Nemaline bodies, Pectus carinatum, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower lim...	OMIM:620389
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyly of finger, Umbilica...	ORPHA:2311
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Reduced bone mineral density, Cervical spinal canal stenosis	OMIM:620232
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Delayed skeletal maturation, Coxa valga, Hypoplasia of the...	OMIM:617396
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduced bone mineral density, Ver...	OMIM:112240
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, De...	OMIM:600561
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph...	ORPHA:267
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral ...	OMIM:271530
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Myosclerosis, Autosomal Recessive	Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles...	OMIM:255600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Ventriculomegaly, Skeletal muscle atrophy, Ky...	OMIM:606612
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Osteopenia, Barrel-shaped chest, Decreased skull ossification, Decrease...	OMIM:610915
Basal Cell Nevus Syndrome 1	Short 4th metacarpal, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morp...	OMIM:109400
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Abnormal pelvic girdle bone morphology, Preaxi...	ORPHA:1988
Acrocapitofemoral Dysplasia	Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog...	ORPHA:63446
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies	ORPHA:1802
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Abnormality ...	ORPHA:363454
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Cerebrofaciothoracic Dysplasia	Narrow chest, Ventriculomegaly, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel a...	ORPHA:1394
Greenberg Dysplasia	Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica...	ORPHA:1426
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Limb muscle weakness, Muscle fiber splitting, Cal...	OMIM:256030
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Biconcave vertebral bodies, Kyphoscoliosis, Beaking of vertebral bodie...	OMIM:231070
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Joint stiffness, Lumbar hy...	OMIM:618167
Osteogenesis Imperfecta, Type Vi	Vertebral compression fracture, Beaking of vertebral bodies, Biconcave vertebral bodies	OMIM:613982
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g...	OMIM:167320
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Delayed skeletal maturation, Reduced bone mineral density, Abnorma...	ORPHA:2501
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Oligomenorrhea, Osteoporosis, Vertebral compression fracture, Kyphosis	OMIM:219090
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu...	OMIM:619042
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Muscular dystrophy, Thoracic scoliosis, Limited shoulder movement, Hyperlordosis, Scapular wingin...	ORPHA:62
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s...	OMIM:606842
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu...	OMIM:618469
Rigid Spine Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop...	ORPHA:97244
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Vertebral fusion, Sacral dimple, Short thorax	OMIM:618845
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca...	ORPHA:280333
Aicardi Syndrome	Optic atrophy, Block vertebrae, Dilated third ventricle, Lateral ventricle dilatation, Optic disc...	OMIM:304050
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr...	ORPHA:99642
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Arachnodac...	ORPHA:377
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:617974
Congenital Myopathy 16	Lumbar hyperlordosis, Scapular winging, Flexion contracture, Scoliosis, EMG: myopathic abnormalit...	OMIM:618524
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes...	ORPHA:1801
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ...	OMIM:607088
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging	OMIM:617719
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis,...	OMIM:160500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Thoracic hypoplasia, Short femoral neck, Knee dislocation, Small epiphyses, Genu valgum, Hip cont...	OMIM:618363
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae	OMIM:214300
Congenital Muscular Dystrophy Due To Lmna Mutation	Narrow chest, Limitation of joint mobility, Skeletal muscle atrophy, Myopathy, Joint hypermobilit...	ORPHA:157973
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Kyphoscoliosis, Osteoporosis, Vertebral compression fracture, Reduced bone mineral...	OMIM:616507
Hereditary Neuropathy With Liability To Pressure Palsies	Scoliosis, Vocal cord paralysis	ORPHA:640
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Pyle Disease	Platyspondyly, Abnormal thorax morphology, Thin bony cortex, Scoliosis, Reduced bone mineral density	OMIM:265900
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Pectus carinatum, Kyphoscoliosis, Short neck, Thin bony cortex, Osteoporosis, Pectus excavatum, V...	OMIM:309583
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Genu recurvatum, Shoulder girdle muscle weakness, Lumbar hype...	OMIM:610687
Thoracomelic Dysplasia	Narrow chest, Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow f...	OMIM:178110
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology	ORPHA:163665
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly	OMIM:617383
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Beaking of vertebral bodies, Schmorl's node, Irregular vertebral endplates	OMIM:604864
Galactosialidosis	Abnormal vertebral morphology, Abnormality of the vertebral column	ORPHA:351
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Osteoporotic tarsals, Costochondral joint sclerosis, Enlargement...	OMIM:609052
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula...	ORPHA:206546
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A...	OMIM:118100
Osteogenesis Imperfecta, Type Xx	Asymmetry of the thorax, Narrow chest, Vertebral compression fracture, Kyphoscoliosis	OMIM:618644
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle...	OMIM:617405
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Joint contracture, Scoliosis, ...	OMIM:611225
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, V...	ORPHA:313892
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Delayed skeletal maturation, Increased ve...	OMIM:273750
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Reduced sperm motility, S...	OMIM:602271
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Kyphosis, Clinodactyly,...	OMIM:181405
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Secondary amenorrhea, Irregular vertebral endplates	OMIM:612847
Atelosteogenesis, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ...	OMIM:256050
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Ara...	OMIM:265000
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Aicardi Syndrome	Optic atrophy, Block vertebrae, Ventriculomegaly, Small hand, Optic disc coloboma, Butterfly vert...	ORPHA:50
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ...	OMIM:271520
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h...	OMIM:307500
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Kyphosis, Myopathy, Scapular winging, Flexion con...	OMIM:616471
Spinal Cord Injury	Vertebral compression fracture, Weakness due to upper motor neuron dysfunction, Spasticity	ORPHA:90058
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Adducted thumb, Hyperlordosis, Kyphosis	OMIM:303350
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Gnathodiaphyseal Dysplasia	Osteopenia, Scoliosis, Thickened cortex of long bones	ORPHA:53697
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Narrow chest, Scoliosis, Kyphosi...	ORPHA:171436
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Beaking of vertebral bodies, Vertebral wedging, Kyphoscoliosis	OMIM:616583
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ...	OMIM:259440
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop...	ORPHA:435387
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosi...	OMIM:255710
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ...	OMIM:607155
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Proximal amyotrophy, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:617404
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Kyphosis, Hyperlordosis, Scapular winging, Flexion co...	OMIM:255200
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving...	OMIM:259600
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, Weakness of facial musculature, 2-3 ...	OMIM:610313
Spondyloocular Syndrome	Platyspondyly, Pectus carinatum, Osteopenia, Shield chest, Thin bony cortex, Vertebral compressio...	OMIM:605822
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Biconcave vertebral bodies, Kyphoscoliosis, Barrel-shaped chest, Sever...	OMIM:259770
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Abnorma...	ORPHA:429
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs...	OMIM:608728
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Scoliosis, Type 1 muscle fiber predominance, Limb muscle weakness, Hyperlordosis...	OMIM:161800
Myopathy, Myofibrillar, 7	Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f...	OMIM:617114
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Kyphosis, Foot dorsiflexor weakness, Optic disc pallor, Scoliosis, Lower limb amyo...	OMIM:617087
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri...	ORPHA:1354
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Lumbar hyperlordosis, Type 1 muscle fiber predominance, Rag...	ORPHA:353327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:98855
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, ...	OMIM:611209
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Overlapping toe, Joint hypermobility, Rib fusion, Postaxial hand polydactyly, Short...	OMIM:213980
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends	ORPHA:168555
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi...	OMIM:312150
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip bone morphology, Hyperlordos...	ORPHA:577
Isolated Glycerol Kinase Deficiency	Osteoporosis, Scoliosis, Hyperlordosis, Myopathy	ORPHA:408
Morquio Syndrome C	Platyspondyly	OMIM:252300
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Ventriculomegaly, Congenital diaphragmatic hernia, Reduced social ...	ORPHA:261197
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Decreased compound muscle action potential amplitude, Myopathy, Joint hyp...	OMIM:618323
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ovoid vertebral bodies, ...	OMIM:253010
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Short neck, Abnormal fe...	OMIM:255800
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m...	OMIM:603034
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp...	ORPHA:98863
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Popliteal pterygium, Skeletal muscle atrophy, Limitation of joint mobility, A...	ORPHA:2990
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,...	ORPHA:2616
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Second Metatarsal-Metacarpal Syndrome	Platyspondyly	OMIM:269630
Kbg Syndrome	Persistent open anterior fontanelle, Cervical ribs, Delayed skeletal maturation, Finger clinodact...	ORPHA:2332
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Scoliosis	OMIM:605285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Ventriculomegaly, Left ventricular hypertrophy, Hyperlordosis, Macroglossia, ...	OMIM:613156
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Scoliosis, Joint dislocation, Clinodactyly of the 2nd finger, Monkey wrench fem...	OMIM:618870
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Pectus excavatum, Enlarged jo...	ORPHA:156728
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi...	OMIM:253290
Verheij Syndrome	Short 5th finger, Branchial cyst, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, V...	OMIM:615583
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Short neck, Flattened epiphysis, Adva...	OMIM:251450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H...	OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Joint stiffness, Lumbar hyperlordosis, Limb-girdle muscle weakness, Hypoglyco...	OMIM:609308
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Abnormal sacrum morphology, Scoliosis, Fused cervical vertebrae	ORPHA:1436
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Sprengel anoma...	ORPHA:98853
Familial Anetoderma	Abnormal tibia morphology, Lumbar hyperlordosis, Generalized joint hypermobility	ORPHA:228277
Dna2-Related Mitochondrial Dna Deletion Syndrome	Hyperlordosis, Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Sclerosis of skull base, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r...	ORPHA:2522
Absence Deformity Of Leg-Cataract Syndrome	Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, ...	ORPHA:2310
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Abnormal thumb m...	ORPHA:2511
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti...	ORPHA:1310
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal cortical bone morphology, Hyperlordosis, Reduced bone mineral densi...	ORPHA:970
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Barrel...	OMIM:184100
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, 11 pairs of ribs, Neonatal death, Short neck, Camptodactyly, Rocker bott...	OMIM:618393
Gaucher Disease Type 1	Osteopenia, Parkinsonism, Osteoporosis, Vertebral compression fracture, Osteolysis	ORPHA:77259
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax	ORPHA:93283
Mesomelic Dysplasia, Kantaputra Type	Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta...	ORPHA:1836
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Limitation of joint ...	ORPHA:3068
Gaucher Disease, Type I	Vertebral compression fracture	OMIM:230800
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Clinod...	ORPHA:915
Lethal Congenital Contracture Syndrome Type 1	Short neck, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Abnormal ri...	ORPHA:1486
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Clinodactyly of the 5th finger, Joint hypermobility, Brachydactyly, Genu va...	OMIM:619451
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Aplasia/hypoplasia of the femur, Lo...	ORPHA:2839
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae	OMIM:156510
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, Kyphosi...	OMIM:183900
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy, Scoliosis, Hemivertebrae	OMIM:614688
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cort...	OMIM:144750
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Bethlem Muscular Dystrophy	Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl...	ORPHA:610
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu...	OMIM:620285
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me...	OMIM:613330
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp...	ORPHA:582
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vert...	ORPHA:1445
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Optic...	OMIM:169550
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased interverteb...	OMIM:618961
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Abnormal clavicle morphology, Cran...	ORPHA:3416
Familial Congenital Mirror Movements	Cerebral palsy, Clumsiness, Hypogonadotropic hypogonadism, Poor fine motor coordination, Fused ce...	ORPHA:238722
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Irregularity of vertebral bodies	OMIM:609324
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Diaphyseal undertub...	ORPHA:175
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalize...	OMIM:184095
Osteogenesis Imperfecta, Type Vii	Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures, Pectus excava...	OMIM:610682
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis, Hip dislocation	OMIM:616756
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir...	OMIM:187760
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Thoracic hypoplasia, Cervical spinal canal steno...	ORPHA:15
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypogonadism, Decreased fertility, Short neck, Hemivertebr...	ORPHA:2234
Smith-Mccort Dysplasia 2	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Broad femoral neck, Genu val...	OMIM:615222
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Lumbar hyper...	OMIM:619542
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Tall lumbar vertebral bodies, Biconcave vertebral bodies, Kyphos...	OMIM:102500
Osteogenesis Imperfecta	Thin ribs, Tetraparesis, Enlarged vertebral pedicles, Decreased skull ossification, Ataxia, Pectu...	ORPHA:666
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Thin...	ORPHA:79106
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp...	OMIM:602196
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Scoliosis, Decreased muscle mass, Camptodactyly of finger, Lumbar hyp...	OMIM:114300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col...	ORPHA:52430
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ...	ORPHA:628
Wieacker-Wolff Syndrome	Narrow chest, Distal amyotrophy, Hip dislocation, Scoliosis, Kyphosis, Short neck, Hyperlordosis,...	OMIM:314580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Muscular dystrophy, Lumbar hyperlordosis, Limb-girdle muscle weakness,...	OMIM:613818
Christian Syndrome	Thoracic hemivertebrae, Scoliosis, Prominent metopic ridge, Fused cervical vertebrae	OMIM:309620
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Azoospermia, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Increased variability in muscle fiber diameter, Hip dislocation, Slender finger,...	ORPHA:75840
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Spina bifida occulta a...	OMIM:102510
Lamb-Shaffer Syndrome	Optic atrophy, Thoracic kyphosis, Hip dysplasia, Scoliosis, Abnormal social behavior, Fused cervi...	ORPHA:530983
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi...	ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Hyperlordosis	OMIM:614198
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos...	OMIM:176920
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Pectus excavatum, Kyphosis	OMIM:609384
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Usmani-Riazuddin Syndrome, Autosomal Dominant	Pectus carinatum, Short finger, Lumbar hyperlordosis, 2-3 toe syndactyly, Clinodactyly of the 5th...	OMIM:619467
Lateral Meningocele Syndrome	Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joi...	OMIM:130720
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Ck Syndrome	Kyphosis, Abnormal cortical bone morphology, Scoliosis, Hyperlordosis	OMIM:300831
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck, Short foot, Hypoplast...	OMIM:607095
Wildervanck Syndrome	Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae	ORPHA:3456
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Ankle clonus	OMIM:617054
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, S...	ORPHA:3218
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Lumbar hyperlordosis, Typ...	OMIM:255310
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thin bony cortex, Thoracic kyphosis	OMIM:619638
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Short 4th metacarpal, Limb undergrowth, Short 2nd ...	OMIM:118651
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Kyphosis, Facial myokymia, Hip dysplasia	OMIM:620007
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Delayed skeletal maturation, Slender...	OMIM:612921
Mucolipidosis Iii Gamma	Pectus carinatum, Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short nec...	OMIM:252605
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne...	ORPHA:93267
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Ventriculomegaly, Upper limb hypertonia, Joint hypermobility, Kyphosis	ORPHA:319199
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Bell-shaped thorax, Shor...	ORPHA:178148
1P36 Deletion Syndrome	Optic atrophy, Ventriculomegaly, Camptodactyly of finger, Delayed cranial suture closure, 11 pair...	ORPHA:1606
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o...	ORPHA:2632
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Biconcave vertebral bodies	OMIM:610967
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Slur...	OMIM:230650
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Severe platyspondyly, Torticollis	OMIM:620639
Three M Syndrome 3	Slender long bone, Increased vertebral height, Joint hypermobility, Short neck, Prominent calcane...	OMIM:614205
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology	ORPHA:280195
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture	OMIM:613723
Bruck Syndrome 1	Platyspondyly, Pectus carinatum, Vertebral wedging, Osteoporosis, Scoliosis, Kyphosis	OMIM:259450
Atelosteogenesis, Type I	Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal de...	OMIM:108720
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Distal lower limb amyotrophy, S...	ORPHA:101075
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Radioulnar synost...	OMIM:134780
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,...	ORPHA:90652
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d...	ORPHA:90650
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne...	ORPHA:94068
Osteopathia Striata-Cranial Sclerosis Syndrome	Asymmetry of the thorax, High iliac wing, Coarse metaphyseal trabecularization, Delayed cranial s...	ORPHA:2780
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia	ORPHA:2619
Cap Myopathy	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Lumbar hyperlordosis,...	ORPHA:171881
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Short thumb, Broad hallux, Premature osteoarthritis, Lumbar hyperlordosis, Os...	OMIM:165800
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Skeletal muscle hyp...	ORPHA:370959
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Multiple Myeloma	Osteopenia, Vertebral compression fracture	ORPHA:29073
Hall-Riggs Syndrome	Platyspondyly, Osteoporosis, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Kyphoscoliosis, Vertebral segmentation defect, Scoliosis	ORPHA:85198
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Nail-Patella Syndrome	Patellar aplasia, Disproportionate prominence of the femoral medial condyle, Patellar dislocation...	OMIM:161200
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Congeni...	ORPHA:2916
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Distal amyotrophy, Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Delayed skeletal maturation, Increased vertebral height, Down-slop...	OMIM:616817
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra...	OMIM:264180
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Osteoporosis, Pectus excavatum, Scoliosis	OMIM:619131
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Decreased muscle mass, Patellar hypoplasia, Hyperextensibility of the finger joints, L...	ORPHA:3041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Pectus excavatum, Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myopathy, Hyperlordosis	ORPHA:369840
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Dela...	OMIM:618392
Porphyria, Congenital Erythropoietic	Osteopenia, Vertebral compression fracture, Osteolysis	OMIM:263700
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu...	OMIM:226980
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Myopathy, Hyperlordosis, Pelvic girdle muscle weakness, Generali...	OMIM:615156
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib...	OMIM:206900
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Sh...	ORPHA:1507
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Brachydactyly, Sh...	OMIM:146000
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology	ORPHA:1513
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos...	ORPHA:71277
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Kbg Syndrome	Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n...	OMIM:148050
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Congeni...	ORPHA:1120
Weismann-Netter Syndrome	Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa...	OMIM:277950
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Optic disc pallor, Short foot, Short 5th finger, Optic disc colobom...	OMIM:607872
Cooper-Jabs Syndrome	Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den...	ORPHA:1488
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermobility, Long toe, Long fingers	ORPHA:251383
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr...	OMIM:618395
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat...	OMIM:269250
Fibrochondrogenesis 2	Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs	OMIM:614524
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Joint hypermobility, Arachnodactyly, Hydrocephalus, Adducted thumb, Shoulder di...	ORPHA:2181
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Short metacarpal,...	OMIM:150250
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Skeletal muscle atrophy, Facial diplegia, Neonatal death, Short neck, Hip dys...	OMIM:611890
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Tho...	OMIM:616549
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Delayed skelet...	ORPHA:280
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Reduced bone mineral density, Thin bony cortex	OMIM:619795
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,...	ORPHA:166002
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Myopathy, Neonatal death, Flexion contracture, Kyphosis	OMIM:618237
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae	OMIM:619122
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ...	ORPHA:3027
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Koolen-De Vries Syndrome	Hip dislocation, Ventriculomegaly, Overfriendliness, Vertebral segmentation defect, Joint hypermo...	ORPHA:96169
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb...	OMIM:601216
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Craniofacial hyperostosis, Short thorax, Abnormal cortical bone morp...	ORPHA:2484
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly	OMIM:271600
Sialidosis Type 2	Pectus carinatum, Skeletal muscle atrophy, Umbilical hernia, Short thorax, Osteoporosis, Flexion ...	ORPHA:87876
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Abnormal pelvic girdle...	OMIM:250250
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Delayed skeletal maturation, Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1548
Cushing Disease	Amenorrhea, Oligomenorrhea, Abnormal libido, Osteoporosis, Vertebral compression fracture, Second...	ORPHA:96253
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Advanced tarsal ossification, Short ribs, Generalize...	OMIM:215045
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:101078
Rhizomelic Dysplasia, Patterson-Lowry Type	Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed humeral heads, ...	ORPHA:2831
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal cortical bone morphology, Decreased skul...	ORPHA:2097
Brachyolmia Type 3	Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis	OMIM:113500
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Joint hypermobili...	ORPHA:2475
Nail-Patella Syndrome	Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal interphalangeal joint...	ORPHA:2614
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly	OMIM:184840
Holt-Oram Syndrome	Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A...	ORPHA:392
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Umbilical hernia, Joint hypermobility, Wormian bones, Shor...	ORPHA:2789
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Upper li...	ORPHA:370010
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal, Hemiatrophy, Abnormal morphol...	ORPHA:1350
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Shwachman-Diamond Syndrome	Osteopenia, Vertebral compression fracture, Deformed rib cage	ORPHA:811
Dysostosis, Stanescu Type	Kyphosis, Abnormal epiphysis morphology, Persistent open anterior fontanelle, Massively thickened...	ORPHA:1798
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ...	OMIM:615155
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Ventriculomegaly, Skeletal muscle atrophy, Kyphosis, Lateral ventricl...	OMIM:618291
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolys...	OMIM:612852
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Knee dislocation, Umbilical hernia, Thoracic scoliosis, Generali...	OMIM:618000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Abnormality of peripheral nerve conduction, Abnormality of the cervical spine, ...	ORPHA:48431
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bowing of the long bones, Short neck, ...	ORPHA:800
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Scoliosis, Osteoporosis	OMIM:126550
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida	OMIM:193500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Platyspondyly, Narrow chest, Ventriculomegaly, Hypoplastic ilia...	OMIM:187601
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, 11 pairs of ribs, Thin ribs, Decreased skull ossification	OMIM:300863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Optic disc coloboma, Camptodactyly of finger, Ab...	ORPHA:568
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Ventriculomegaly, Limitation of joint mobility, Encephalocele, Joint...	ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Short foot, Scoliosis, Kyphosis	OMIM:300434
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Short tibia, Radial bowing, Short thumb, Dista...	OMIM:201250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook	OMIM:615633
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ...	ORPHA:2114
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Delayed skeletal maturation, Brachydactyly, Hyperlordosis, Kyphosis	ORPHA:3085
Oculoskeletodental Syndrome	Short 5th finger, Clinodactyly, Delayed skeletal maturation, Hypoplasia of the capital femoral ep...	ORPHA:557003
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ...	OMIM:618658
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b...	OMIM:151210
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ...	OMIM:218600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Pectus carinatum, Platyspondyly, Spasticity, Spastic tetraplegia, Crani...	OMIM:618476
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Hydrocephalus, Hemivertebrae...	ORPHA:2180
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Scoliosis, K...	OMIM:254090
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilated third ventricle, Lateral ventricle dilatation, Rib fusion, Clinodactyly of t...	ORPHA:544488
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Decreased muscle mass, Hypermobility of distal interphalangeal joints...	OMIM:615065
Koolen-De Vries Syndrome	Slender finger, Ventriculomegaly, Kyphosis, Prominent fingertip pads, Spondylolisthesis, Joint hy...	OMIM:610443
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Meso...	OMIM:146510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, Barrel-shape...	OMIM:612813
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Abnormality of the cervical spine, Patchy reduction of bone mi...	ORPHA:73
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Narrow chest, Delayed patellar ossification, Short neck, Abnormal b...	ORPHA:163649
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce...	ORPHA:268882
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ...	ORPHA:1826
Achondrogenesis Type 1B	Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax	ORPHA:93298
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Sho...	OMIM:228520
Cataract-Intellectual Disability-Hypogonadism Syndrome	Ulnar deviation of finger, Scoliosis, Hyperlordosis, Abnormal distal phalanx morphology of finger	ORPHA:1387
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Lethal Recessive Chondrodysplasia	Limb undergrowth, Micrognathia, Micromelia, Flared elbow metaphyses	ORPHA:1423
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Ap...	ORPHA:3320
Jansen-De Vries Syndrome	Small hand, Brachydactyly, Hyperlordosis, Short foot, Central diaphragmatic hernia	OMIM:617450
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Joint stiffness, Abnormal...	ORPHA:1323
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Cohen Syndrome	Optic atrophy, Lumbar hyperlordosis, Genu valgum, Thoracic scoliosis, Joint hypermobility, Cubitu...	OMIM:216550
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Abnormally ossified vertebrae, Cervical instability...	ORPHA:93346
Trichorhinophalangeal Syndrome Type 1	Pectus carinatum, Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger,...	ORPHA:77258
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Clinodac...	OMIM:190350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Bruck Syndrome	Platyspondyly, Osteoporosis, Scoliosis, Kyphosis	ORPHA:2771
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Absent...	OMIM:166210
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Lumbar hyperlordosis, Limited elbow extension, Achilles tendon contra...	OMIM:619719
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia	ORPHA:157965
Bruck Syndrome 2	Platyspondyly, Pectus carinatum, Osteopenia	OMIM:609220
Mulchandani-Bhoj-Conlin Syndrome	2-3 toe syndactyly, Scoliosis, Hyperlordosis, Clinodactyly	OMIM:617352
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies,...	OMIM:230600
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Inappropriate laughter, Hallux valgus, Scoliosis, Kyphosis	ORPHA:505652
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Abnormal optic disc morphology, Short neck,...	ORPHA:508498
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte...	ORPHA:1782
Pycnodysostosis	Small hand, Delayed cranial suture closure, Hypoplastic iliac wing, Short foot, Coronal craniosyn...	ORPHA:763
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Delayed pubic bone ossification, Ovoid vertebral bodies, Abnormality of the verteb...	ORPHA:1856
Mosaic Trisomy 14	Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger	ORPHA:1703
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Diaphyseal scler...	OMIM:122860
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology	ORPHA:1345
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Rhabdomyolysis...	ORPHA:254854
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri...	OMIM:253220
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve...	OMIM:135100
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Zttk Syndrome	Optic atrophy, Ventriculomegaly, Small hand, Cervical ribs, Joint hypermobility, Rib fusion, Hemi...	OMIM:617140
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Ventriculomegaly, Joint stiffness, Joint ...	ORPHA:2655
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Upper limb hypertonia, Joint hypermobility, Kyphosis, Lower limb hypertonia	OMIM:614898
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Pectus carinatum, Congenital hip dislocation, Ventriculomegaly, Dislocation of the femoral head, ...	OMIM:619797
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad ribs, Thin bony cortex, Increased bone mineral density, Vertebral arch anomaly	ORPHA:85184
Dysosteosclerosis	Platyspondyly, Osteopenia, Narrow chest, Facial paralysis, Sclerosis of hand bone, Broad ribs, Sc...	OMIM:224300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Generalized limb muscle atrophy, Ragged-red muscle fibers, Joint hypermobility, Hyperlordosis, Sc...	OMIM:600462
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L...	OMIM:203500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Limitation of joint mobility, Hyperlordosis	ORPHA:1192
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte...	OMIM:143095
Ollier Disease	Platyspondyly, Osteolysis	ORPHA:296
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Radioulnar synostosis, Short hallux, Hip dislocation, Delayed skeletal mat...	OMIM:194190
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Lateral ventricle dilatation, Clinodactyly, Prominent fingertip pad...	ORPHA:96148
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Osteoporosis	ORPHA:319195
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, C...	ORPHA:3082
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Lumbar hyperlordosis...	OMIM:602471
Martsolf Syndrome 1	Pectus carinatum, Ventriculomegaly, Broad femoral neck, Tracheomalacia, Short toe, Talipes valgus...	OMIM:212720
Odontochondrodysplasia 1	Platyspondyly, Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Osteoporosis, Coronal c...	OMIM:184260
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Hypoplasia of the radius, Metatars...	ORPHA:2249
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Duane-Radial Ray Syndrome	Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent radius, Pectoralis hypoplasia...	OMIM:607323
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Thoracic hypopla...	OMIM:187600
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Lumbar hyperlordosis...	OMIM:601152
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Recurrent fractures, Abnormal metaphysis morphology, Joint...	ORPHA:2050
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis, Skeletal muscle hypertrophy	ORPHA:99014
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab...	OMIM:600081
Myotonia Permanens	Limitation of joint mobility, Hyperlordosis, Skeletal muscle hypertrophy, Generalized muscle hype...	ORPHA:99735
Robinow Syndrome	Short distal phalanx of finger, Umbilical hernia, Kyphoscoliosis, Missing ribs, Rib fusion, Bifid...	ORPHA:97360
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Sclerotic vertebral endplates, Decreased cervical spine mobility, Kyphoscoliosis, ...	OMIM:208230
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short n...	ORPHA:93299
Gm1 Gangliosidosis	Platyspondyly, Optic atrophy, Coarse metaphyseal trabecularization, Abnormal form of the vertebra...	ORPHA:354
Cog1-Cdg	Posterior rib gap, Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Ky...	ORPHA:263508
Osteopetrosis, Autosomal Dominant 1	Abnormality of the vertebral column, Thickened cortex of long bones, Generalized osteosclerosis, ...	OMIM:607634
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Ventriculomegaly, Kyphosis, Rocker bottom foot, Hip contracture, Weakness of facial...	OMIM:301041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand tremor, Frequent falls, Postural tremor, Babinski sign, Vocal cord paralysis, Scoliosis, Poo...	ORPHA:99947
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis	OMIM:128100
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Calf muscle hypertrophy, Hy...	OMIM:310200
Frank-Ter Haar Syndrome	Genu recurvatum, Kyphosis, Camptodactyly of finger, Umbilical hernia, Joint stiffness, Beaking of...	ORPHA:137834
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter o...	ORPHA:3101
3Mc Syndrome	Caudal appendage, Umbilical hernia, Diastasis recti, Spina bifida occulta, Radioulnar synostosis,...	ORPHA:293843
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl...	OMIM:215140
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Delayed skeletal matura...	OMIM:602111
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumbar hyperlordosis, My...	OMIM:615980
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Pect...	OMIM:616294
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ...	ORPHA:1452
Osteogenesis Imperfecta, Type Iii	Thin ribs, Wide anterior fontanel, Kyphosis, Slender long bone, Bowing of limbs due to multiple f...	OMIM:259420
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic...	OMIM:157800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Sclerotic vertebral endplate...	ORPHA:289176
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Prominent fingertip pads, Joint hypermobility, Arachnodactyly, Hyperlordosis, S...	OMIM:300986
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abnormal thumb morphology, Abn...	ORPHA:2639
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Shor...	ORPHA:373
Ruvalcaba Syndrome	Narrow chest, Small hand, Limited elbow extension, Short phalanx of finger, Short metacarpal, Sho...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Broad thumb, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermobility, Short neck, Brachyda...	ORPHA:171866
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Limitation of joint mobility, Abnormal form of the vertebral bodi...	ORPHA:3098
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Trache...	OMIM:234100
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Spondylo-Ocular Syndrome	Platyspondyly, Short neck, Osteoporosis, Abnormal intervertebral disk morphology, Thoracic kyphosis	ORPHA:85194
Cantu Syndrome	Platyspondyly, Narrow chest, Cuboid-shaped vertebral bodies, Short neck, Osteoporosis, Ovoid vert...	OMIM:239850
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Pectus carinatum, Skeletal muscle atrophy, Increased bone mineral density, Umbilic...	OMIM:614856
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu...	ORPHA:3130
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Autosomal Recessive Stickler Syndrome	Platyspondyly, Irregular vertebral endplates	ORPHA:250984
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scolio...	ORPHA:3454
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Arachnodactyly, Hemiver...	ORPHA:2759
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Fibrochondrogenesis	Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Osteochondrosis Of The Metatarsal Bone	Thickened cortex of bones, Sclerosis of foot bone	ORPHA:564003
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Micrognathia, Irregular epiphyses of the metacarpals, Limb undergrowth, B...	OMIM:614078
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Umbilical hernia, Joint contracture of the...	ORPHA:352490
Mosaic Trisomy 20	Narrow chest, Spinal canal stenosis, Down-sloping shoulders, Vertebral segmentation defect, Limit...	ORPHA:1724
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,...	ORPHA:171430
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Congenital diaphra...	ORPHA:1834
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly	OMIM:619598
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Sacral dimple, Pectus excavatum, Kyphosis, Wide anterior fontanel	OMIM:618272
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Intellectual Developmental Disorder, Autosomal Dominant 52	Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul...	OMIM:617796
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic platyspondyly, Biconcave vertebral bodies, Intervertebral space narrowing, Thoracic scol...	ORPHA:166011
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Kyphosis, Finger...	ORPHA:958
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal metap...	ORPHA:2631
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Fucosidosis	Anterior beaking of thoracic vertebrae, Cervical platyspondyly, Lumbar hyperlordosis, Barrel-shap...	OMIM:230000
Myhre Syndrome	Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Generalized mus...	OMIM:139210
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Nievergelt Syndrome	Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ...	OMIM:163400
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb...	ORPHA:3219
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Hypophosphatemic...	OMIM:241530
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma...	ORPHA:2633
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Hyperlordosis, Brachydact...	ORPHA:710
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Sandal gap, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Clinodactyly, Delayed skeletal maturation, Slender long bone, Lumbar hyperlordosis, Increased ver...	OMIM:613385
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dens...	OMIM:252900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Narrow chest, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Neonatal death,...	OMIM:616482
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Abnormal for...	ORPHA:3258
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Umbilical hernia, Clinodactyly of the 5th finger, Scoliosis, ...	OMIM:615834
Sialidosis Type 1	Pectus carinatum, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Delayed skeleta...	ORPHA:812
Odontochondrodysplasia	Platyspondyly, Narrow chest, Scoliosis	ORPHA:166272
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Hereditary Geniospasm	Abnormal social behavior, Abnormality of mentalis muscle	ORPHA:53372
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Short thorax, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Mcdonough Syndrome	Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis	ORPHA:2471
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Ventriculomegaly, Short distal phalanx of finger, Abno...	ORPHA:73230
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Miss...	ORPHA:2769
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver...	OMIM:619227
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Ventriculomegaly, Thoracic hypoplasia, Flared metaphysis, Decreased fi...	OMIM:616897
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hyperlordosis, Polya...	ORPHA:2848
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Kyphosis, Joint hypermobility, Wormian bones, Hallux valgus, Hyperlordosis, Sc...	OMIM:617821
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana...	ORPHA:79345
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Overfriendliness, Arachnodactyly, Abnormal social behavior, Pectus carinatum...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Overfriendliness, Arachnodactyly, Abnormal social behavior, Pectus carinatum...	ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Narrow chest, Pectus excavatum, Scoliosis, Kyphosis	OMIM:300676
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology	ORPHA:90653
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Proximal amyotr...	OMIM:615084
Multiple Endocrine Neoplasia, Type Iib	Proximal femoral epiphysiolysis, Myopathy, Joint hypermobility, Aganglionic megacolon, Hyperlordo...	OMIM:162300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Shashi-Pena Syndrome	Ventriculomegaly, Cervical C2/C3 vertebral fusion, Mild fetal ventriculomegaly, Short metacarpal,...	OMIM:617190
Acrocephalopolydactyly	Limb undergrowth, Brachydactyly	ORPHA:221054
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Ventriculomegaly, Limb hypertonia, Kyphosis	ORPHA:500180
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Progressive ventriculomegaly, Ventriculomegaly, Absent thumb, Lateral ventricle di...	ORPHA:500150
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Metaphyseal irregularity, Rheumatoid arthritis, Short iliac bones, Sclerosis of sk...	OMIM:607944
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Genu valgum, Thoracolumbar scoliosis, Hyperlordosis...	OMIM:618443
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Rachitic rosary, Short ribs, Decreased calvarial ossi...	OMIM:241500
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s...	OMIM:200600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Narrow chest, Dysplastic sacrum, Bell-shaped thorax, Short ribs,...	OMIM:613320
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Muscular dystrophy, Kyphosis, Joint hypermobility	ORPHA:1875
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Congenital hip dislocation, Shoulder gi...	ORPHA:2020
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Broad phalanx, Bilateral talipes equin...	ORPHA:56304
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Vertebral wedging, Thoracic hypoplasia, Short ribs, Missing ribs, Decreased calvar...	OMIM:617866
Braddock-Carey Syndrome 1	Camptodactyly, Small hand, Hyperlordosis, Clinodactyly	OMIM:619980
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Lateral ventricle dilatation, Clinodactyly, Hypoplast...	OMIM:277590
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abno...	ORPHA:1328
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Ventriculomegaly, Joint stiffness, Femoral bowing,...	ORPHA:1860
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Delayed skeletal ...	ORPHA:1517
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Toe syndactyly, 2-3 toe syndactyly, Limb undergrowth, Adducted thumb, Clinodactyly of the 5th fin...	OMIM:616809
Lethal Kniest-Like Dysplasia	Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c...	ORPHA:2347
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Optic disc coloboma, Aplasi...	ORPHA:959
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad...	OMIM:609625
Ruvalcaba Syndrome	Pectus carinatum, Narrow chest, Small hand, Synostosis of carpal bones, Cone-shaped epiphysis, Ab...	ORPHA:3121
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Laron Syndrome	Limb undergrowth	OMIM:262500
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Scoliosis, Kyphosis, Abnormal autonomic nervous system physiology	OMIM:610743
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava...	ORPHA:2970
Cushing Syndrome Due To Ectopic Acth Secretion	Amenorrhea, Oligomenorrhea, Abnormal libido, Osteoporosis, Vertebral compression fracture, Second...	ORPHA:99889
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Clinodactyly of the 5th finger, Down-sloping shoulders, Hyperextens...	OMIM:227330
Microcephalic Primordial Dwarfism, Toriello Type	Ventriculomegaly, Abnormal epiphysis morphology, Delayed skeletal maturation, Brachydactyly, Abno...	ORPHA:2643
Alpha-Mannosidosis	Synostosis of joints, Delayed skeletal maturation, Bowing of the long bones, Short neck, Arthriti...	ORPHA:61
Sandhoff Disease	Kyphosis	ORPHA:796
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Umbilical hernia, Long hallux, Lumbar hyperlordosis, Joint hypermobility, Bilater...	OMIM:619234
Atelosteogenesis Type I	Platyspondyly, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, ...	ORPHA:1190
Saethre-Chotzen Syndrome	Optic atrophy, Broad thumb, Abnormal form of the vertebral bodies, Finger syndactyly, Delayed cra...	ORPHA:794
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydactyly, Short me...	OMIM:617102
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology	ORPHA:2772
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Cornelia De Lange Syndrome 6	Pectus carinatum, Short 1st metacarpal, Delayed skeletal maturation, Down-sloping shoulders, Arac...	OMIM:620568
Garg-Mishra Progeroid Syndrome	Platyspondyly, Narrow chest, Thin ribs, Ovoid vertebral bodies	OMIM:620601
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Hurler Syndrome	Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ...	ORPHA:93473
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lipid droplets, Hyperlordosis...	ORPHA:26791
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Kyphoscoliosis, Irregular vertebral endplates	OMIM:612350
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab...	OMIM:264700
Variegate Porphyria	Paralysis	OMIM:176200
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Short neck, Macroglossia, Abnorma...	ORPHA:583
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Intercostal musc...	ORPHA:258
Atypical Rett Syndrome	Small hand, Inappropriate laughter, Reduced social reciprocity, Abnormal autonomic nervous system...	ORPHA:3095
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Ventriculomegaly, Short distal phalanx of the thumb, ...	ORPHA:221139
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Thin ribs	OMIM:615368
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Trisomy 13	Optic atrophy, Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib m...	ORPHA:3378
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Joint stiffness, Irregular femoral epiphysi...	OMIM:108300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop...	ORPHA:163966
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis, Myopathy	OMIM:618234
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ...	ORPHA:1858
Monosomy 9Q22.3	Ventriculomegaly, Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Join...	ORPHA:77301
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Osteopenia, Butterfly vertebrae, Short ribs, Decreased calvarial ossifi...	OMIM:620076
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Delayed skeletal maturation, Spinal canal stenosis, Elbow flexion co...	OMIM:608328
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Missing ribs, Hydrocephalus, Abnormal rib morphology, Septo-optic dysplasia, Abnor...	ORPHA:3301
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Colpocephaly, Short neck...	OMIM:609053
Mesomelic Dysplasia, Savarirayan Type	Hypoplasia of proximal radius, Fibular aplasia, Metatarsus valgus, Flared radial metaphysis, Bowi...	ORPHA:85170
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Limited elbow movement, Camptodactyly ...	OMIM:300280
Iniencephaly	Absent vertebra, Spinal dysraphism, Myelomeningocele, Encephalocele, Congenital diaphragmatic her...	ORPHA:63259
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, C...	OMIM:248800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Distal amyotrophy, Ankle clonus, Optic disc pallor, Flexion contracture, Scoliosis...	OMIM:609541
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Optic disc coloboma, Femoral...	OMIM:608940
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Myelomeningocele, Congenital diaphragmatic hernia, Abnormal thumb morph...	ORPHA:94065
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Arachnodactyly, Dislocated radial head, Pe...	OMIM:182212
3Q29 Microdeletion Syndrome	Pectus carinatum, Pectus excavatum, Six lumbar vertebrae	ORPHA:65286
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Dense...	OMIM:252930
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia...	OMIM:271640
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure	ORPHA:83451
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Postaxia...	OMIM:603387
Postaxial Acrofacial Dysostosis	Pectus excavatum, Supernumerary vertebrae	OMIM:263750
Renpenning Syndrome	Skeletal muscle atrophy, Joint stiffness, Clinodactyly of the 5th finger, Abnormal thumb morpholo...	ORPHA:3242
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Short neck, Lumbar kyphoscoliosis, Pectus excavat...	OMIM:156550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Broad ribs, Genu valgum, Limited elbow extension, Broad long bone diaphyses, Hy...	OMIM:301066
Duane Retraction Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Aplasi...	ORPHA:233
Sifrim-Hitz-Weiss Syndrome	Ventriculomegaly, Short clavicles, Wormian bones, Tapered finger, Flat acetabular roof, Short fem...	OMIM:617159
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Hypophosphatasia	Craniosynostosis, Narrow chest, Recurrent fractures, Abnormal rib morphology	ORPHA:436
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio...	ORPHA:52
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Brachydactyly, Micromelia, Camptodactyly of finger	ORPHA:2928
Mucopolysaccharidosis, Type Iiib	Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria	OMIM:252920
Frontorhiny	Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Enc...	ORPHA:391474
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Ventriculomegaly, Limitation of joint mobility, Lumbar hyperlordosis, Re...	ORPHA:457359
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis...	OMIM:242900
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Small hand, Sandal gap, Distal lower limb amyotrophy, Joint hypermobility, Brac...	OMIM:300354
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu...	ORPHA:93329
Distal 22Q11.2 Microdeletion Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San...	ORPHA:261330
3C Syndrome	Optic atrophy, Ventriculomegaly, Finger syndactyly, Abnormal hip bone morphology, Missing ribs, S...	ORPHA:7
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Anauxetic Dysplasia 3	Platyspondyly, Narrow chest, Beaking of vertebral bodies, Pectus excavatum, Thoracolumbar kyphosc...	OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 73	Axillary pterygium, Toe clinodactyly, Narrow chest, Delayed skeletal maturation, Lumbar hyperlord...	OMIM:620450
Coffin-Lowry Syndrome	Optic atrophy, Pectus carinatum, Ventriculomegaly, Skeletal muscle atrophy, Abnormal form of the ...	ORPHA:192
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Mesomelia-Synostoses Syndrome	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Mic...	ORPHA:2496
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Ventriculomegaly, Kyphosis, Tracheomalacia, 11 pa...	ORPHA:140
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos...	OMIM:112350
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial hand polydactyly	ORPHA:2491
Joubert Syndrome 37	Joint hypermobility, Lumbar hyperlordosis, Postaxial polydactyly, Prominent metopic ridge	OMIM:619185
Stickler Syndrome, Type Iv	Platyspondyly, Scoliosis, Intervertebral space narrowing	OMIM:614134
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility	OMIM:617333
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Narrow chest, Hypoplastic scapulae, Short thorax	ORPHA:85166
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab...	OMIM:277440
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, C...	ORPHA:2215
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Umbilical her...	OMIM:305450
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:85317
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Pelger-Huet Anomaly	Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Foot dorsif...	OMIM:169400
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Abnormal sternum morphology, Decreased mus...	OMIM:248700
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Spinal rigidity, Hypoplasia of the musculature, Tapered toe, Shoulder flexion contract...	OMIM:620369
Sclerosteosis 1	Broad clavicles, Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Broa...	OMIM:269500
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Radial club hand	OMIM:276950
Spastic Paraplegia 46, Autosomal Recessive	Lower limb muscle weakness, Limb muscle weakness, Ankle clonus, Scoliosis, Kyphosis	OMIM:614409
Alexander Disease	Osteopenia, Short neck, Hyperlordosis, Abnormal autonomic nervous system physiology, Hydrocephalu...	ORPHA:58
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes...	OMIM:609128
Fg Syndrome Type 1	Ventriculomegaly, Finger syndactyly, Abnormal sternum morphology, Umbilical hernia, Clinodactyly ...	ORPHA:93932
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakn...	ORPHA:352447
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo...	ORPHA:85167
Fliedner-Zweier Syndrome	Joint hypermobility, Hallux valgus, Pectus excavatum, Meningocele, Scoliosis, Kyphosis	OMIM:620511
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Delayed epiphyseal ossification, Thoracic hypoplasia, Cuboid-shaped vertebral bodi...	OMIM:611717
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Hemifacial Atrophy, Progressive	Kyphosis, Horner syndrome	OMIM:141300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Pectus excavatum, Cervical instability, De...	OMIM:617425
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Short toe, Oligodactyly, Foot oligodactyly, Fibul...	ORPHA:93323
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Camptodactyly of finger, Patellar aplasia, Vertebral ...	ORPHA:96061
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Pectus carinatum, Joint stiffness, Lumbar hyperlordosis, Barrel-shaped chest, Shor...	ORPHA:505248
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Clinodactyly, Brachydactyly, ...	OMIM:615547
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti...	OMIM:601559
Hurler Syndrome	Hypoplasia of the odontoid process, Umbilical hernia, Joint stiffness, Biconcave vertebral bodies...	OMIM:607014
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Rickets, Osteomalacia, Cortical irregularity, Fibrous dysplasia of ...	ORPHA:249
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Platyspondyly, Pectus carinatum, Osteopenia, Increased vertebral h...	OMIM:620662
Hsd10 Disease	Optic atrophy, Ventriculomegaly, Abnormal social behavior	ORPHA:391417
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Parkinsonism	OMIM:105500
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger,...	ORPHA:261318
4Q21 Microdeletion Syndrome	Ventriculomegaly, Small hand, Toe syndactyly, Short neck, Short foot, Scoliosis, Kyphosis, Short ...	ORPHA:238750
ERI1-related disease	Platyspondyly, Pectus carinatum, Narrow chest, Osteopenia, Increased vertebral height, Pectus exc...	OMIM:608739
Lopes-Maciel-Rodan Syndrome	Small hand, Ankle clonus, Short foot, Scoliosis, Kyphosis	OMIM:617435
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Craniometadiaphyseal Dysplasia	Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum...	OMIM:269300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ...	ORPHA:95699
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Small hand, Lateral ventricle dilatation, Prominent fingertip pads, Sandal gap,...	OMIM:615873
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Ventriculomegaly, Short distal phalanx of finger, Finger syndactyly, ...	ORPHA:1647
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Micrognathia, Abnormal femur morphology, Abnormal metacarpal morphology, Limb ...	ORPHA:3429
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Scoliosis, Kyphosis	ORPHA:1545
Familial Expansile Osteolysis	Osteolysis, Thin bony cortex	OMIM:174810
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Short thumb, Brachydactyly, Cuboidal metacarpal, Tarsal synostosis, Short metacarp...	ORPHA:968
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Lumbar hemiverte...	ORPHA:2463
Czech Dysplasia	Platyspondyly, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis, Irregular vertebral ...	OMIM:609162
Clark-Baraitser syndrome	Genu recurvatum, Genu valgum, Joint hypermobility, Scoliosis, Kyphosis, Short palm, Tapered finger	OMIM:300602
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Image Syndrome	Micromelia, Metaphyseal dysplasia	ORPHA:85173
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rachitic rosary, Rickets, Osteomalacia, Sparse bone trabeculae, ...	ORPHA:289157
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Osteopenia, Small hand, Broad femoral neck, Delayed skeletal matu...	ORPHA:488434
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, P...	ORPHA:1439
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis	OMIM:300857
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Ventriculomegaly, Delayed skeletal maturation, Delayed cranial suture closure, E...	OMIM:151050
Apert Syndrome	Optic atrophy, Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Cervical C5/C6 v...	ORPHA:87
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Paraspinal muscle hypertrophy	ORPHA:3198
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Short neck, Thoracolumbar scoliosis, Craniosynostosis, Scoliosis	OMIM:616723
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bone...	OMIM:615349
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis	OMIM:151800
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Overlapping...	OMIM:617022
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the...	OMIM:609008
Opsismodysplasia	Hypoplastic ischia, Narrow chest, Hypoplasia of the odontoid process, Metaphyseal cupping, Poster...	OMIM:258480
Sjögren-Larsson Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:816
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Kyphoscoliosis, Long fingers, Long clavicles, Fle...	OMIM:608149
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu...	ORPHA:89936
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal thumb morphology, Aplasia/Hypoplasia of the...	ORPHA:1597
Zimmermann-Laband Syndrome 2	Macroglossia, Short neck, Kyphosis	OMIM:616455
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Gm1-Gangliosidosis, Type I	Joint stiffness, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis...	OMIM:230500
Alpha-Mannosidosis, Infantile Form	Genu valgum, Myopathy, Short neck, Bilateral coxa valga, Optic disc pallor, Hypoplastic inferior ...	ORPHA:309282
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Optic atrophy, Ventriculomegaly, Sandal gap, Enlarged thorax, Camptodactyly of ...	ORPHA:261349
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Spasticity, Beaking of vertebral bodies T12-L3, Spatulate ribs, ...	ORPHA:79255
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Narrow chest, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Brachydactyly, Clinodactyly of the 5th finger, Short foot, Abnormal social behavior	ORPHA:444002
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ank...	ORPHA:83
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Lumbar hyperlordosis, Axial mus...	OMIM:184850
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Proximal placement of thumb, Kyphosis	OMIM:615433
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Small hand, Broad thumb, Slender finger, Broad hallux, Lumbar hyperlordosis, Abnormal...	ORPHA:251028
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Short neck, Abnormal metacarpal mor...	ORPHA:251014
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:177
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita, Decreased calvarial ossification	OMIM:618265
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
Infantile Liver Failure Syndrome 3	Platyspondyly, Beaking of vertebral bodies, Hypoplastic vertebral bodies	OMIM:618641
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis recti, Joint hy...	ORPHA:254528
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Sclerosis of...	ORPHA:3003
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Decreased muscle mass, Elbow contracture, Finger clinoda...	OMIM:617137
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Narrow chest, Broad clavicles, Persistent open anterior fontanel...	OMIM:304150
Jaberi-Elahi Syndrome	Optic atrophy, Pectus carinatum, Joint stiffness, Joint hypermobility, Scoliosis, Kyphosis, Dandy...	OMIM:617988
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Acrodysostosis	Cone-shaped metacarpal epiphyses, Short toe, Micromelia, Abnormal diaphysis morphology, Abnormal ...	ORPHA:950
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Abnormal femo...	ORPHA:1830
Turnpenny-Fry Syndrome	Pectus carinatum, Narrow chest, Small hand, Clinodactyly, Delayed skeletal maturation, Lumbar hyp...	OMIM:618371
X-Linked Adrenoleukodystrophy	Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis,...	ORPHA:43
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventriculomegaly, Butterfly vertebrae, Diastasis recti, Neonatal death, Posterior rib fusion, Rig...	OMIM:265380
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca...	OMIM:119600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s...	OMIM:613091
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:1318
Hypertrichosis Cubiti	Rhizomelia, Micromelia	ORPHA:2220
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalaci...	OMIM:300373
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Large pla...	ORPHA:254519
Mucopolysaccharidosis, Type Ii	Umbilical hernia, Tracheobronchomalacia, Short neck, Papilledema, Hydrocephalus, Split hand, Macr...	OMIM:309900
Classical-Like Ehlers-Danlos Syndrome Type 2	Elbow dislocation, Arachnodactyly, Hip dislocation, Osteopenia, Joint dislocation, Knee dislocati...	ORPHA:536532
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Pectus carinatum, Ventriculomegaly, Postaxial foot polydactyly, Contractures of th...	ORPHA:521426
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat...	ORPHA:93357
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b...	OMIM:250220
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology	ORPHA:166277
Mucopolysaccharidosis Type 3	Optic atrophy, Ventriculomegaly, Abnormal clavicle morphology, Abnormal form of the vertebral bod...	ORPHA:581
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Joint hy...	ORPHA:85293
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Reduced bone mineral density, Scoliosis, Kyphosis	OMIM:166220
Hurler-Scheie Syndrome	Camptodactyly of finger, Umbilical hernia, Joint stiffness, Contracture of the distal interphalan...	OMIM:607015
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Thoracic hypoplasia, Radial bowing, Flared metaphysi...	OMIM:211350
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Scapular winging, ...	OMIM:617061
48,Xxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Down-sloping shoulders, Joint hypermobility, Ra...	ORPHA:96263
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Delayed skeletal...	ORPHA:93317
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Facial palsy, Scoliosis, Kyphosis	OMIM:617143
Oculodentodigital Dysplasia	Spasticity, Spastic paraparesis, Abnormal clavicle morphology, Abnormal form of the vertebral bod...	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Short-Rib Thoracic Dysplasia 12	Narrow chest, Hypoplastic scapulae, Short toe, Thoracic dysplasia, Short finger, Bowing of the ar...	OMIM:269860
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, ...	OMIM:260400
Flynn-Aird Syndrome	Joint stiffness, Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:2047
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Truncal ataxia, Kn...	OMIM:211530
Trisomy 1Q	Ventriculomegaly, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, Preaxial hand...	ORPHA:261344
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Pectus carinatum, Ventriculomegaly, Contractures of the large joints, Postaxial po...	OMIM:617527
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Abnormal shoulder morphology, Joint hypermobility, Arachn...	ORPHA:2115
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bullet-shaped middle phalanges of t...	OMIM:602535
Pachydermoperiostosis	Cerebral palsy, Abnormal cortical bone morphology, Osteoporosis, Scoliosis, Osteolysis	ORPHA:2796
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis, Hip dislocation	ORPHA:464282
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal thumb ...	ORPHA:1842
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Micrognathia, Cli...	OMIM:620663
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1883
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Scoliosis, Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:93316
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Joint hypermobility, Arachnodactyly, Hyperlordosis, Communicating hydrocephalus...	OMIM:617011
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Tracheomalacia, Myelomeningocele, Bell-shaped thorax, Spina b...	ORPHA:1393
Hall-Riggs Syndrome	Platyspondyly, Scoliosis	ORPHA:2107
Saul-Wilson Syndrome	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Pectus excavatum, Irregular ...	OMIM:618150
Faciocardiomelic Syndrome	Osteopenia, Narrow chest, Thin bony cortex, Cuboid-shaped vertebral bodies	OMIM:612731
Beta-Mercaptolactate Cysteine Disulfiduria	Arachnodactyly, Micromelia, Genu valgum, Sandal gap	ORPHA:1035
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Decreased sku...	ORPHA:93324
Noonan Syndrome 14	Pectus carinatum, Lateral ventricle dilatation, Clinodactyly, Limited elbow extension, Cubitus va...	OMIM:619745
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Hyperlordosis	ORPHA:3253
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Ventriculomegaly, Arthrogryposis multiplex congenita, Finger syndactyly, Sandal...	ORPHA:254346
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Hip contracture, Myopathy, Posteri...	ORPHA:3042
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Ar...	OMIM:600920
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Narrow chest, Fractured rib, Ventriculomegaly, Metaphyseal spurs, Umbilica...	OMIM:618188
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Broad clavicles, Narrow chest, Aplastic clavicle, Short ribs, Short thorax, Increa...	ORPHA:50945
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Joint hypermobility, 3-4 finger cutane...	OMIM:619951
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis	OMIM:258850
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Short ribs, Postaxial hand ...	OMIM:241800
Sillence Syndrome	Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Scoliosis, Back pain	ORPHA:3168
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth	OMIM:152800
Distal Triplication 15Q	Abnormal sternum morphology, Arachnodactyly, Hydrocephalus, Camptodactyly, Craniosynostosis, Flex...	ORPHA:314588
Fetal Akinesia Deformation Sequence 1	Thin ribs, Congenital contracture, Thoracic hypoplasia, Decreased muscle mass, Camptodactyly of f...	OMIM:208150
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, A...	ORPHA:198
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Ulnar deviation of thumb, ...	OMIM:142900
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Kyphosis, Finger syndactyly, Short middle phalanx of finger, Joint st...	ORPHA:1005
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Large placenta, Diastasis recti, Coat hanger sign of ribs	ORPHA:254534
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae, Comm...	ORPHA:1780
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Atlantoaxial dislocation, Pectus carinatum, Osteopenia, Congenital kyphoscoliosis,...	ORPHA:536467
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Aspergillosis	Osteomyelitis, Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib m...	ORPHA:1163
Emanuel Syndrome	Congenital hip dislocation, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Joi...	OMIM:609029
Srd5A3-Cdg	Optic atrophy, Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Postaxial polyd...	OMIM:617895
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed skeletal maturation, Delaye...	OMIM:601812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Scoliosis, Hyperlordosis, Hip dysplasia	OMIM:615356
Cohen Syndrome	Optic atrophy, Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Clinodac...	ORPHA:193
Renal Tubular Acidosis Iii	Periodic paralysis, Rickets, Osteomalacia	OMIM:267200
Alg1-Cdg	Scoliosis, Limitation of joint mobility, Kyphosis	ORPHA:79327
Nestor-Guillermo Progeria Syndrome	Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W...	OMIM:614008
Spondyloenchondrodysplasia	Platyspondyly, Pectus carinatum, Ventriculomegaly, Hypoplastic ilia, Short distal phalanx of fing...	ORPHA:1855
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Short neck, Torti...	OMIM:609945
Intellectual Developmental Disorder, Autosomal Dominant 29	Sandal gap, Broad hallux, Lumbar hyperlordosis, Cutaneous finger syndactyly, Hyperlordosis, Hip d...	OMIM:616078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Skeletal muscle atrophy, Kyphosis, Finger syndactyly, Pectus excavatum, ...	ORPHA:1969
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Fibular hypoplasia, Absent...	OMIM:605274
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Cranial hyperostosis, Facial hyperostosis, Hypogonadism, Abnormal cortical bon...	ORPHA:2658
Mucolipidosis Type Ii	Narrow chest, Limitation of joint mobility, Kyphosis, Limited wrist movement, Decreased movement ...	ORPHA:576
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Short neck, Brachydactyly, Hypoplasia of the radius, Abnor...	ORPHA:3015
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Platyspondyly, Pectus carinatum, Narrow chest, Osteopenia, Generalized osteoporosis, 11 pairs of ...	OMIM:245600
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact...	OMIM:619143
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Synostosis of carpal bones, Kyphosis	ORPHA:3191
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ...	OMIM:211750
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal s...	OMIM:252940
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib...	ORPHA:1300
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, Neonatal death, Joint hypermobility	OMIM:300219
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Limb undergrowth, Tibial bowing	ORPHA:453510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow chest, Unicoronal synostosis, Short tibia, Preaxial polydactyly, Bell-shaped thorax, Hypop...	OMIM:616300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Abnormal sensory nerve conduction velocity, Flexion contracture of finger, Camptod...	ORPHA:88628
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Lateral ventricle dilata...	OMIM:263520
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Joint hypermobility,...	OMIM:617602
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Optic nerve hypoplasia	OMIM:614833
Williams Syndrome	Synostosis of joints, Genu valgum, Myopathy, Overfriendliness, Radioulnar synostosis, Patellar di...	ORPHA:904
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossificati...	OMIM:244460
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Myoclonus, Spasticity, Scoliosis, Vocal cord paralysis	ORPHA:500144
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow chest, Arachnodactyly, Hydrocephalus, Scapular winging, Long fingers, Pectus excavatum, Cr...	OMIM:616914
Bcard Syndrome	Platyspondyly, Osteopenia, Scoliosis	OMIM:612394
Chromosome 16P13.3 Duplication Syndrome	Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Facial hypotonia, Proximal p...	OMIM:613458
Congenital Myopathy 15	Osteopenia, Vocal cord paralysis	OMIM:620161
Frank-Ter Haar Syndrome	Broad clavicles, Osteopenia, Flared metaphysis, Delayed cranial suture closure, Anterior concavit...	OMIM:249420
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Hajdu-Cheney Syndrome	Decreased skull ossification, Bowing of the long bones, Short neck, Patellar dislocation, Pectus ...	ORPHA:955
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Aganglionic megacolon, Kyphosis	ORPHA:261222
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short neck, Neural tube defect, Sacr...	ORPHA:798
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Increased bone mineral density, Barrel-shaped chest, Lateral femoral bowing...	OMIM:239000
Lowry-Wood Syndrome	Platyspondyly	ORPHA:1824
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Snakebite Envenomation	Respiratory paralysis, Paralysis, Pseudobulbar paralysis	ORPHA:449285
Mend Syndrome	Wide anterior fontanel, Abnormal auditory evoked potentials, Kyphosis, Broad hallux, Overlapping ...	ORPHA:401973
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Myelomeningocele, Hydrocephal...	OMIM:306955
Myhre Syndrome	Platyspondyly, Abnormal epiphysis morphology, Joint stiffness, Abnormal pubic bone morphology, Br...	ORPHA:2588
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad ribs, Sclerosis of skull base, Increased intervertebral space, Thin bony cortex	OMIM:619727
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Pectus carinatum, Skel...	ORPHA:2461
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Deviation of the 2nd finger, Dilated third ventricle, Lateral ventricle dilatat...	ORPHA:464738
Pelizaeus-Merzbacher Disease	Optic atrophy, Joint stiffness, Scoliosis, Kyphosis	ORPHA:702
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Small hand, Hydrocephalus, Hip dysplasia, Flexion cont...	ORPHA:500055
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Contracture of the proximal interpha...	ORPHA:2232
Achondrogenesis, Type Ib	Micromelia, Short ribs	OMIM:600972
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Joint hypermobility, Facial hypotonia, Abnormality of muscle size, Scoliosis, Ky...	ORPHA:364028
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex	OMIM:300009
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Brachydactyly, Postaxial hand polydactyly, Scolio...	ORPHA:2075
Achondrogenesis Type 2	Micromelia, Delayed proximal femoral epiphyseal ossification, Short ribs	ORPHA:93296
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Osteoporosis, Scoliosis	OMIM:203700
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:230800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Elbow flexion contracture, Genu valgum, Hip contracture, Finger joint hypermobilit...	OMIM:618493
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis	ORPHA:37553
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal sternum morphology,...	OMIM:192350
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs...	OMIM:603116
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Ventriculomegaly, 2-3 toe syndactyly, Scoliosis, Kyphosis	OMIM:616449
Achondrogenesis	Micrognathia, Micromelia	ORPHA:932
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Left ventricular hypertrophy, Glycogen accumulation in muscle fiber l...	ORPHA:365
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Joint stif...	ORPHA:2062
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Block vertebrae, Occipital encephalocele, Cervical ribs, Genu v...	OMIM:164210
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Abnormal cortical bone morphology, Beaking of ve...	ORPHA:93
Gm2-Gangliosidosis, Ab Variant	Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet...	OMIM:272750
Cranio-Osteoarthropathy	Abnormal cortical bone morphology	ORPHA:1525
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Trisomy 9P	Short neck, Brachydactyly, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Smith-Lemli-Opitz Syndrome	Optic atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the radius, Kyphosis, Abnormal form of the...	ORPHA:818
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal hip bone morphology, Scoliosis, Hyperlordosis	ORPHA:3353
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,...	ORPHA:370930
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Proximal placement of thumb, Colpocephaly, Hip dysplasia, Scoliosis, Kyphosis, ...	ORPHA:261250
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Osteoporosis, Scoliosis, Kyphosis, Joint contracture	OMIM:615381
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting	OMIM:615709
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Scoliosis	OMIM:619269
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Congenital diaphragmatic hernia, 2-3 finger syndactyly, Broad toe, Short greater sci...	OMIM:312870
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita...	ORPHA:63260
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Progressive fle...	ORPHA:522077
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Hip contracture, Thoracolumbar scoliosis, Hyperextensibility of the...	OMIM:619503
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad...	OMIM:600002
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth	ORPHA:79243
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Unilateral radial aplasia, Clinodactyly of the 5th finger, Partial absence of thumb, 2-...	ORPHA:476126
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Pectus carinatum, Kyphosis, Joint stiffness, Genu valgum, Arachnodactyly, Osteopor...	ORPHA:394
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Joint hypermobility, Kyphoscoliosis, Aganglionic megacolon, Proximal amyotro...	ORPHA:653
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Hypoplastic iliac w...	OMIM:225500
Dpm1-Cdg	Sandal gap, Long hallux, Micrognathia, Limb undergrowth, Camptodactyly	ORPHA:79322
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Clubbing of fingers, Micrognathia, Short ribs, Talipes equinovarus, Limb undergrowth,...	ORPHA:1865
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Radial deviation of finger, Umbilical hernia, Kyphoscoliosis, Hemivertebrae, Macrog...	OMIM:301040
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge...	ORPHA:83617
Chops Syndrome	Cervical C2/C3 vertebral fusion, Optic atrophy, Brachydactyly, Tracheomalacia	OMIM:616368
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Ventriculomegaly, Prominent protruding coccyx, Joint hypermobility, Short neck, Promi...	OMIM:300966
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Ventriculomegaly, Lumbar hyperlordosis, Hip dysplasia, Clinodactyly of the 5th fin...	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Short ribs, Decrea...	OMIM:617925
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Scoliosis, Periodic hypokalemic paresis, Scapular winging	OMIM:170390
Rift Valley Fever	Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain	ORPHA:319251
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia, Ulnar bowing	ORPHA:1765
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Scoliosis, Kyphosis	ORPHA:88644
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Platyspondyly, Pectus carinatum, Osteopenia, Congenital kyphoscoli...	ORPHA:536471
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Hip dislocation, Delayed skeletal maturation	OMIM:608776
Shprintzen Omphalocele Syndrome	Narrow chest, Scoliosis, Kyphosis, Lumbar hyperlordosis	OMIM:182210
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Joint hypermobility, Short neck, Limb hypertonia, Hyperlordosis, Long f...	OMIM:619950
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:261144
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Optic atrophy, Limitation of joint mobility, Camptodactyly of fing...	ORPHA:217085
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed skeletal matur...	ORPHA:85199
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
Pagod Syndrome	Optic atrophy, Abnormal clavicle morphology, Encephalocele, Spina bifida, Abnormal rib morphology...	ORPHA:991
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia,...	ORPHA:2396
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Ventriculomegaly, Short toe, Abnormality of the cervical spine, Flexio...	ORPHA:464311
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu...	ORPHA:420794
Trisomy 18	Deviation of finger, Delayed skeletal maturation, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:3380
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Kyphoscoliosis, Vocal cord paralysis, Scoliosis, Poor fine motor coordination	ORPHA:99956
Rett Syndrome	Short foot, Scoliosis, Skeletal muscle atrophy, Kyphosis	OMIM:312750
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Ventriculomegaly, Increased density of long bones, Short 1st meta...	OMIM:269150
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Optic atrophy, Limitation of joint mobility, Camptodactyly of fing...	ORPHA:217093
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Rhizomelia, Short thumb, Camptodactyly of finger, Bowing of th...	OMIM:166250
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Micromelia, Micrognathia, Short ribs, Bowing of the long bones, Adducted thumb, Metaphyseal widen...	OMIM:224400
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Platyspondyly, Thin ribs, Kyphoscoliosis, Osteoporosis	OMIM:225400
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Toe syndactyly, Clinodactyly of the 5th finger, Multiple joint contractures, Po...	ORPHA:464306
Monosomy 9P	Limitation of joint mobility, Abnormality of the vertebral column, Abnormality of the tarsal bone...	ORPHA:261112
Branchiooculofacial Syndrome	Short thumb, Fusion of middle ear ossicles, Elbow flexion contracture, Preaxial hand polydactyly,...	OMIM:113620
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis,...	ORPHA:297
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Genu valgum, Joint hypermobility, Kyphoscoliosis, Hyperlordosis, Hydro...	ORPHA:363700
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Brachydactyly	ORPHA:1784
Cockayne Syndrome Type 2	Flexion contracture, Scoliosis, Limb hypertonia, Kyphosis	ORPHA:90322
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:228371
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Delayed skeletal maturation	OMIM:614857
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Charge Syndrome	Optic atrophy, Bifid femur, Umbilical hernia, Abnormal tibia morphology, Clinodactyly of the 5th ...	ORPHA:138
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal cortical bone morphology, Thickened cortex of long bones, Osteoporosis, Scol...	ORPHA:3206
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Reduced bone mineral density, Infertility	ORPHA:2909
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Kyphosis	OMIM:619909
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Vocal cord paralysis	ORPHA:221098
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Mesomelia	ORPHA:1908
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Spastic paraplegia, Azoospermia, Limb ataxia, Paralysis, Oculomotor aprax...	ORPHA:2072
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis, Decreased muscle mass	ORPHA:349
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Clinodactyly of the 2nd finger, Clinodactyly of the 4th finger, Joint hypermobility, ...	ORPHA:73223
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae	OMIM:166200
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Metatarsus valgus, Joint hypermobility, Genu varum, Scoliosis, Kyphosis, Tapered finger	ORPHA:2479
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia, Skeletal muscle atrophy, Kyphosis	OMIM:219080
Glioblastoma	Paralysis	ORPHA:360
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Premature ovarian insufficiency, Hypogonadism	ORPHA:221008
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Sprengel anomaly...	OMIM:618223
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Broad distal phalanx of finger, Elbow flexion contracture, Hypoplasia of the capital femoral epip...	OMIM:619194
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Abnormal sternum morphology	OMIM:177850
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Abnormality of the tarsal bones, Genu valgum...	ORPHA:321
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276244
Prader-Willi Syndrome	Osteopenia, Ventriculomegaly, Small hand, Clinodactyly, Decreased muscle mass, Radial deviation o...	OMIM:176270
Micro Syndrome	Optic atrophy, Joint stiffness, Scoliosis, Kyphosis	ORPHA:2510
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Glutamine Deficiency, Congenital	Camptodactyly, Micromelia	OMIM:610015
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Cowden Syndrome 5	Pectus excavatum, Scoliosis, Kyphosis	OMIM:615108
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Dislocation of the femoral head, Micrognathia, Fibular aplasia,...	OMIM:260660
Geleophysic Dysplasia 1	Platyspondyly, Pectus excavatum, Osteopenia, Ovoid vertebral bodies	OMIM:231050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Ventriculomegaly, Delayed skeletal maturation, Lumbar kyphosis, ...	OMIM:303600
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hip dislocation, Ventriculomegaly, Abnormal epiphysis morphology, Osteomalacia, Um...	ORPHA:534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Thoracic hypoplasia, Pr...	OMIM:229850
Amyotrophic Lateral Sclerosis	Babinski sign, Spasticity, Paralysis, Fasciculations	ORPHA:803
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Kyphosis	OMIM:619244
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Short neck, Ataxia, Advanced ossification of carpal bones, Posterior scalloping of...	OMIM:610442
Stickler Syndrome	Genu valgum, Arachnodactyly, Hip dislocation, Protrusio acetabuli, Pectus carinatum, Joint disloc...	ORPHA:828
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly, Hyd...	OMIM:602361
Marfan Syndrome	Pectus carinatum, Osteopenia, Skeletal muscle atrophy, Reduced bone mineral density, Spondylolist...	ORPHA:558
Robin Sequence With Cleft Mandible And Limb Anomalies	Short 5th finger, Microretrognathia, Radial deviation of the hand, Short tibia, Short thumb, Meso...	OMIM:268305
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Wrinkly Skin Syndrome	Osteopenia, Hypoplasia of the musculature, Congenital hip dislocation, Slender long bone, Delayed...	OMIM:278250
Cowden Syndrome 6	Pectus excavatum, Scoliosis, Kyphosis	OMIM:615109
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Kyphosis, Decreased muscle mass, Kyphoscoliosis, Arachnodactyly, Slender toe, L...	ORPHA:3063
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Osteopenia, Female hypogonadism, Male hypogonadism, Periodic hypokalemic ...	ORPHA:91347
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Horizontal inferior border of scapula, Anterior rib cupping	OMIM:102700
Pseudo-Torch Syndrome 2	Thin ribs, Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex	ORPHA:1652
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Ventriculomegaly, Small hand, Hip dysplasia, Osteoporosis, Flexion contracture, Short...	ORPHA:398069
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Fibular...	ORPHA:444077
Schisis Association	Micromelia	ORPHA:63862
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Talipes equinovarus, Micrognathia, Micromelia	OMIM:224410
Microcephalic Primordial Dwarfism, Dauber Type	Clinodactyly of the 5th finger, Limb undergrowth, Short middle phalanx of the 5th finger, Abnorma...	ORPHA:319675
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Tibial bowing, Postax...	OMIM:612651
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Prader-Willi Syndrome Due To Translocation	Small hand, Lateral ventricle dilatation, Clinodactyly, Overlapping toe, Clinodactyly of the 4th ...	ORPHA:177907
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Optic nerve compression, Abnormal metaphysis morphol...	ORPHA:667
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus...	OMIM:211380
Triosephosphate Isomerase Deficiency	Optic disc pallor, Skeletal muscle atrophy, Kyphosis, Myopathy	OMIM:615512
Mgat2-Cdg	Osteopenia, Brachydactyly, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:79329
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Brachydactyly, Syndactyly	OMIM:614800
Microphthalmia, Syndromic 1	Joint contracture of the hand, Narrow chest, Clinodactyly, Optic disc coloboma, Prominent fingert...	OMIM:309800
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume...	ORPHA:3404
Cowden Syndrome 1	Pectus excavatum, Scoliosis, Kyphosis	OMIM:158350
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Restrictive Dermopathy	Thin ribs, Osteopenia, Camptodactyly of finger, Small placenta, Increased anterioposterior diamet...	ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 57	Joint hypermobility, Brachydactyly, Absent fourth finger distal interphalangeal crease, Contractu...	OMIM:618050
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Overlapping fingers, Kyphosis, Knee flexion contracture	OMIM:619708
Schneckenbecken Dysplasia	Hypoplastic scapulae, Micromelia, Short ribs, Fibular hypoplasia, Hypoplastic vertebral bodies, D...	ORPHA:3144
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Thin bony cortex, Pectus excavatum, Scoliosis, Reduced bone mineral density	OMIM:613658
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations	ORPHA:682
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Poliomyelitis	Hyperkinetic movements, Paralysis, Paraparesis, Fasciculations	ORPHA:2912
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis, Reduced social reciprocity	OMIM:613454
Hydrolethalus	Micrognathia, Micromelia, Postaxial hand polydactyly	ORPHA:2189
Microlissencephaly-Micromelia Syndrome	Adducted thumb, 11 pairs of ribs, Micromelia	ORPHA:50810
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly, Kyphosis	OMIM:619123
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteoporosis, Osteopenia, Kyphosis	OMIM:610475
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Short neck, Brachydactyly, Camptodactyly, Short phalanx of finger, Sco...	OMIM:616894
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short phalanx of finger, Limb undergrowth, Micrognathia, Short toe	OMIM:225410
Inhalational Botulism	Paralysis	ORPHA:254504
Coffin-Siris Syndrome 1	Prominent fingertip pads, Delayed skeletal maturation, Umbilical hernia, Sandal gap, Clinodactyly...	OMIM:135900
Cockayne Syndrome A	Optic atrophy, Ventriculomegaly, Abnormal auditory evoked potentials, Limitation of joint mobilit...	OMIM:216400
Chondrodysplasia-Difference Of Sex Development Syndrome	Micromelia, Short phalanx of finger, Short metacarpal	ORPHA:1422
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Turner Syndrome Due To Structural X Chromosome Anomalies	Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Short toe, D...	ORPHA:99413
Mosaic Monosomy X	Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Short toe, D...	ORPHA:99228
Monosomy X	Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Short toe, D...	ORPHA:99226
Turner Syndrome	Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Short toe, D...	ORPHA:881
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Dextrocardia	Congenital hip dislocation, Hydrocephalus, Abnormal rib morphology	ORPHA:1666
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Foot dorsiflexor weakness, Ankle clonus, Kyphosis, Lower limb hypertonia	ORPHA:171629
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Delayed skeletal maturation,...	ORPHA:2554
Marshall Syndrome	Platyspondyly	OMIM:154780
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Osteopenia, Flexion contracture, Kyphosis	OMIM:212065
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia	ORPHA:221016
Cranioectodermal Dysplasia 2	Narrow chest, Clinodactyly, Horizontal ribs, Short ribs, Joint hypermobility, Polydactyly, Left v...	OMIM:613610
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Metaphyseal irregu...	OMIM:618162
Chromosome Xq26.3 Duplication Syndrome	Accelerated skeletal maturation, Kyphosis	OMIM:300942
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Periodic hypokalemic paresis, Cranial hyperostosis	OMIM:259730
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spasticity, Spondylolisthesis, Beaking of vertebral bodies, Scolios...	OMIM:208400
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Micrognathia, Ulnar bowing, Talipe...	OMIM:263650
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Broad finger	ORPHA:488632
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Sacroiliac arthritis, Oligoarthritis, Enthesitis, Back pain	OMIM:106300
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab...	ORPHA:2907
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Primrose Syndrome	Generalized osteoporosis, Short distal phalanx of finger, Narrow chest, Distal amyotrophy, Skelet...	OMIM:259050
Mend Syndrome	Broad hallux, Sacral dimple, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyl...	OMIM:300960
Geleophysic Dysplasia 3	Limb undergrowth, Short foot, Brachydactyly	OMIM:617809
Developmental And Epileptic Encephalopathy 89	Talipes equinovarus, Microretrognathia, Limb undergrowth	OMIM:619124
Proteus Syndrome	Asymmetry of the thorax, Macrodactyly, Rib exostoses, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:744
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Square pelvis b...	OMIM:133540
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Ventriculomegaly, Rickets, Wrist swelling, Kyphosis...	OMIM:309000
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia	ORPHA:79102
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence...	ORPHA:2052
Distal Renal Tubular Acidosis	Paralysis, Reduced bone mineral density, Rickets, Osteomalacia	ORPHA:18
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
Infantile Systemic Hyalinosis	Micromelia, Brachydactyly, Short palm, Camptodactyly of finger	ORPHA:2176
Coccidioidomycosis	Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Abnormal long bone morphology, Ab...	ORPHA:228123
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia, Kyphosis	OMIM:610489
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Osteoporosis, Scoliosis, Kyphosis	OMIM:619718
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Charge Syndrome	Bifid femur, Short thumb, Hand monodactyly, Umbilical hernia, Absent radius, Down-sloping shoulde...	OMIM:214800
Alagille Syndrome 1	Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ...	OMIM:118450
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Short clavicles,...	OMIM:617088
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventriculomegaly, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal toe morphology, Polydacty...	ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Brachydactyly, Coxa vara, Clinodactyly of the 5th finger, Abnormal metaphysis morphology	ORPHA:2637
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Jo...	OMIM:619127
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Hypoplastic ilia, Narrow chest, Short femur, Clinodactyly, Slender long bone, Short hu...	OMIM:264090
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Hypoplastic radial head, Micrognathia, 2-3 toe syndactyly, Short ster...	OMIM:122470
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Short thumb, Micromelia, Preaxial polydactyly, 11 pairs of ribs, Micrognathi...	OMIM:210710
Mosaic Trisomy 9	Micromelia, Finger clinodactyly, Camptodactyly of finger, Micrognathia, Talipes equinovarus, Rock...	ORPHA:99776
Intellectual Developmental Disorder, X-Linked 112	Madelung deformity, Kyphoscoliosis, Joint hypermobility, Scoliosis, Kyphosis	OMIM:301111
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Abnormality of peripheral nerve conduction, Optic disc pallor, Flexion c...	ORPHA:90324
Cowden Syndrome	Brachydactyly, Pectus excavatum, Macroglossia, Scoliosis, Kyphosis	ORPHA:201
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Scoliosis, Kyphosis, Increased femoral anteversion	OMIM:619005
Sotos Syndrome	Abnormal vertebral morphology, Ankle flexion contracture, Ventriculomegaly, Umbilical hernia, Hip...	ORPHA:821
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth	OMIM:618005
Atelis Syndrome 2	Clinodactyly, Kyphosis, Sacral dimple	OMIM:620185
Desmosterolosis	Micrognathia, Micromelia, Metatarsus adductus	ORPHA:35107
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul...	OMIM:300967
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Osteomyelitis, Genu valgum, Tapered distal phalanges of finger, Reduced social ...	OMIM:619475
Cockayne Syndrome	Optic atrophy, Congenital contracture, Skeletal muscle atrophy, Contractures of the large joints,...	ORPHA:191
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ...	ORPHA:2908
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Anterior concavity of thoracic vertebrae, Dec...	OMIM:216340
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormal social behavior	ORPHA:309256
Ramon Syndrome	Juvenile rheumatoid arthritis, Optic disc pallor, Scoliosis, Kyphosis	OMIM:266270
Neurofibromatosis Type 1	Osteopenia, Kyphosis, Slender long bone, Joint stiffness, Genu valgum, Abnormal hip bone morpholo...	ORPHA:636
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormal social behavior	ORPHA:309263
Kinsship Syndrome	Micrognathia, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial head, Mesomelia	OMIM:619297
African Trypanosomiasis	Involuntary movements, Fasciculations, Abnormal central motor function, Abnormality of the menstr...	ORPHA:3385
Neu-Laxova Syndrome 1	Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radial deviation of finger, Microgna...	OMIM:256520
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Brachydactyly	OMIM:259775
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly	OMIM:616546
Viss Syndrome	Pectus carinatum, Hip dislocation, Rocker bottom foot, Kyphosis, Umbilical hernia, Recurrent join...	OMIM:619472
Slc39A8-Cdg	Cutaneous syndactyly of toes, Limb undergrowth	ORPHA:468699
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Micromelia, Abnormal distal phala...	ORPHA:2636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Delayed skelet...	ORPHA:2273
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Optic ...	ORPHA:309271
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ...	OMIM:180700
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Cranial nerve compression, Osteopetrosis, Prominent floating ribs, Pectus excavatu...	ORPHA:2785
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Synostosis of carpal bones, Micromelia, Genu valgum, Hand polydac...	ORPHA:289
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein, Abnormal social behavior	ORPHA:1020
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Lumbar scoliosis, Short neck, Abnormal bone ossification, Shield chest, Irregular ...	ORPHA:99646
Neu-Laxova Syndrome	Micrognathia, Micromelia, Large hands	ORPHA:2671
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Limb undergrowth	ORPHA:99843
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Short neck, Abnormal social behavior	ORPHA:1675
Alstrom Syndrome	Scoliosis, Accelerated skeletal maturation, Kyphosis, Polydactyly	OMIM:203800
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Mesomelia	OMIM:613457
Acromegaly	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:963
Somatomammotropinoma	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:314769
Fontaine Progeroid Syndrome	Platyspondyly, Coronal craniosynostosis, Scoliosis, Craniosynostosis	OMIM:612289
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral...	ORPHA:3107
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
17Q11 Microdeletion Syndrome	Osteopenia, Abnormality of the vertebral column, Osteolysis, Beaking of vertebral bodies T12-L3, ...	ORPHA:97685
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Acrocephalopolydactylous Dysplasia	Micromelia, Postaxial hand polydactyly	OMIM:200995
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Microretrognathia, Postaxial foot polydactyly, Short thumb, Short t...	OMIM:270400
Tyrosinemia, Type I	Hypophosphatemic rickets, Periodic paralysis	OMIM:276700
Gitelman Syndrome	Paralysis	ORPHA:358
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
8Q24.3 Microdeletion Syndrome	Short 5th finger, Microretrognathia, Micromelia, Finger clinodactyly, Long toe, Short hallux, Lon...	ORPHA:508488
Childhood Absence Epilepsy	Abnormal social behavior	ORPHA:64280
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Oligodactyly, Micrognathia, Abnorma...	ORPHA:199
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo...	ORPHA:1308
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Brachydactyly, Clinodactyly of t...	ORPHA:709
Pineoblastoma	Paralysis	ORPHA:251909
Pmm2-Cdg	Platyspondyly, Osteopenia, Abnormality of coordination, Kyphoscoliosis, Hypogonadotropic hypogona...	ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Micrognathia, Short ribs, Postaxial hand polydactyly, Shor...	ORPHA:93271
Tuberous Sclerosis Complex	Abnormal social behavior, Noncommunicating hydrocephalus	ORPHA:805
Niemann-Pick Disease Type C	Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal social behavior	ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior	ORPHA:314647
Alström Syndrome	Short toe, Short finger, Thoracic scoliosis, Lumbar scoliosis, Accelerated skeletal maturation, O...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dll3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dll3.

No publications found that use IMPC mice or data for Dll3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dll3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Dll3^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dll3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dll3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dll3^{tm46419(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dll3^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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