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Gene: Cxxc5 MGI:1914643

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CXXC finger 5

Synonyms:

4930415K17Rik

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 Cxxc5 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 Cxxc5 (0 diseases)
Human diseases predicted to be associated with Cxxc5 (698 diseases)

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

The table below shows human diseases predicted to be associated to Cxxc5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical...	ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Microcephaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture, Scoliosis	OMIM:166700
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Kyphosis,...	ORPHA:2635
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Pyle Disease	Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Reduced bone mineral den...	OMIM:265900
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Symphalangism affecting th...	ORPHA:628
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Microcephaly, Abnormality of the elbow, Abnormal rib morphology, Pectus carina...	ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Lower limb asymmetry, Cranial hyperostosis, Scoliosis	OMIM:612918
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Macrocephaly	ORPHA:1513
Lethal Recessive Chondrodysplasia	Micromelia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow metaphyses, L...	ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Chondrodysplasia, Blomstrand Type	Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica...	OMIM:215045
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Grant Syndrome	Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyper...	ORPHA:2097
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Wide anterior fontanel, Abnor...	ORPHA:163649
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Microcephaly, Long fingers, Red...	OMIM:619489
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Macrocephaly	ORPHA:178377
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ...	ORPHA:1525
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Sc...	OMIM:112350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum...	OMIM:613330
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Ck Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig...	OMIM:300831
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Rib fusion, Verteb...	OMIM:609813
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ...	ORPHA:210110
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the el...	ORPHA:1486
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Upper limb asymmetry, Hype...	ORPHA:2485
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare...	OMIM:224300
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morph...	ORPHA:2484
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, S...	OMIM:618392
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short metacarp...	OMIM:607326
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Micromelia, Microcephaly, Pectus excava...	ORPHA:1798
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Clino...	OMIM:184250
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus...	OMIM:259440
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited hip movement...	OMIM:258315
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Jo...	ORPHA:1803
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Thin ribs, Femoral...	OMIM:617952
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Monosomy 5P	Finger syndactyly, Recurrent fractures, Microcephaly, Small hand, Joint hyperflexibility, Abnorma...	ORPHA:281
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Hyperlordosis, High iliac wing, Asymmetry of the thorax, Osteopet...	ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Micromelia, Delayed epiphyseal ossification, Flared metaphysi...	OMIM:602557
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal vertebral mor...	ORPHA:93352
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Ovoid vertebral bodies, La...	OMIM:269250
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest...	OMIM:613848
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Clapo Syndrome	Hemihypertrophy of lower limb, Macrodactyly, Pectus excavatum, Hemihypertrophy of upper limb, Nar...	ORPHA:168984
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormality of the lower ...	ORPHA:3035
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru...	ORPHA:2958
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Thin clavicles, Small hand, Thi...	ORPHA:93324
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ...	ORPHA:93298
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Capitate-hamate fusion, Enlargemen...	OMIM:271650
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ...	OMIM:123000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Thin ribs, Kne...	OMIM:618395
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long...	OMIM:151210
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Kyphoscoliosis, Abnormal foot morphology, Elbow flexion cont...	OMIM:184252
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Osteopetrosis, Macrocephaly, Clinodactyly ...	OMIM:617306
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Hyperlordosis, Kyphosis, Short thorax, Abnormal rib morphol...	ORPHA:582
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio...	ORPHA:1426
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Proteus Syndrome	Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger...	ORPHA:744
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu...	OMIM:616229
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short ...	ORPHA:93299
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Reduced bone mineral density, Long fibula, Biparietal narrowing, Abnormal metap...	ORPHA:935
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ...	ORPHA:2741
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur...	OMIM:610915
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi...	ORPHA:157965
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys...	OMIM:269300
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Scoliosis	OMIM:615066
Bent Bone Dysplasia Syndrome 2	Osteopenia, Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar...	OMIM:620076
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short met...	ORPHA:93307
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ...	OMIM:265800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio...	OMIM:271665
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, ...	OMIM:608154
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ...	ORPHA:436
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Hemihyperplasia-Multiple Lipomatosis Syndrome	2-4 toe syndactyly, Foot polydactyly, Macrodactyly, Scoliosis	ORPHA:276280
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of...	ORPHA:2633
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnormal form of...	ORPHA:83468
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin...	ORPHA:90652
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly	OMIM:613089
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis...	ORPHA:2801
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib...	ORPHA:73230
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Thoracic platyspondyly, Metaphyseal widening, Squared iliac bones, Short long bone...	OMIM:618961
Macrodactyly	Macrodactyly	OMIM:155500
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Vertebral w...	OMIM:610967
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Pycnodysostosis	Joint laxity, Abnormal clavicle morphology, Increased bone mineral density, Rhizomelia, Lower lim...	ORPHA:763
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Proteus Syndrome	Kyphoscoliosis, Mandibular hyperostosis, Hypertrophy of skin of soles, Macrocephaly, Calvarial hy...	OMIM:176920
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Microcephaly, Abnormal rib morphology, Joint hyperflexibility, D...	ORPHA:2772
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplastic iliac wing, Increase...	OMIM:119600
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Diaphanospondylodysostosis	Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ossified ver...	ORPHA:66637
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Juberg-Hayward Syndrome	Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, ...	ORPHA:2319
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Microcephaly, Kyphosis, Short metatarsal, Small hand, Short foot, N...	OMIM:180870
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures	OMIM:611490
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Multiple prenatal...	OMIM:616897
Hypophosphatasia, Childhood	Craniosynostosis, Rachitic rosary, Bowing of the legs	OMIM:241510
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Cuboid...	ORPHA:1517
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Deep plantar creases, Large hands, Deep p...	ORPHA:963
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:1452
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Deep plantar creases, Large hands, Deep p...	ORPHA:314769
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,...	OMIM:244460
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253000
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Atelosteogenesis Type Iii	Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality...	ORPHA:56305
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral...	OMIM:615222
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Irregular vertebral e...	OMIM:271700
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Femoral-Facial Syndrome	Short femur, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morphology, Radiouln...	ORPHA:1988
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Kenny-Caffey Syndrome, Type 2	Macrocephaly, Increased bone mineral density, Thickened cortex of long bones, Abnormality of the ...	OMIM:127000
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia, Short meta...	OMIM:108720
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca...	ORPHA:2911
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Joint stiffness, Epiphyseal d...	OMIM:253010
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Delayed epiphyseal ossi...	OMIM:156550
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Short thorax, Abnormality of bone mineral density, ...	ORPHA:932
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Microcephaly	ORPHA:2512
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Increased head circu...	OMIM:612301
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Microcephaly, Hyperlordosis, Limitation of joint mobility, Abnormal ri...	ORPHA:3068
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of bone mineral density	ORPHA:3156
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Increased head circumference, Barrel-shaped...	ORPHA:94068
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Microcephaly, Increased skull ossification, Abnor...	ORPHA:1422
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp...	ORPHA:324964
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ...	OMIM:618265
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing,...	ORPHA:93315
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Increased bone mineral densit...	ORPHA:800
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Microcephaly, Flared metaphysis, Advanced ossification of carpal bones, Flat acetab...	OMIM:610442
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Macrocephaly	ORPHA:1506
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal...	OMIM:616294
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d...	OMIM:249700
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli...	OMIM:230600
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis, Microcephaly	ORPHA:94063
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Macrocephaly	OMIM:615085
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Antley-Bixler Syndrome	Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ...	ORPHA:83
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum...	ORPHA:175
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad skull, Broad palm, Scoliosis, Broa...	OMIM:277600
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Metaphyseal widening, Flexion contracture, Broad palm, Coxa...	OMIM:300232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Irre...	OMIM:271640
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Microcephaly, Pectus excava...	OMIM:259775
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Wide anterior fontanel, Fibul...	OMIM:201170
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee...	OMIM:609945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short femur, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Faciocardiomelic Syndrome	Osteopenia, Microcephaly, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow ...	OMIM:612731
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
3M Syndrome	Congenital hip dislocation, Micromelia, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font...	OMIM:620099
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly	ORPHA:2435
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Sh...	OMIM:190350
Mucolipidosis Iii Gamma	Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis...	OMIM:252605
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Microcephaly, Metatarsus adductus, Osteopetr...	ORPHA:35107
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Joint stiffness, Elbow dislocation, Metatarsus adductus, Coxa va...	ORPHA:2557
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Short...	ORPHA:79444
Adams-Oliver Syndrome 3	Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ...	OMIM:614814
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Kyphosis, Pos...	ORPHA:3082
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, T...	ORPHA:2463
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Microcephaly, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal r...	ORPHA:2522
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Microcephaly, Cranial hyperostosis, Flared metaphysis, Decreased ...	OMIM:259720
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hi...	OMIM:618853
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme...	OMIM:610682
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Macrocephaly, Diaphyseal dysplasia, Scle...	OMIM:619727
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca...	OMIM:618150
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short tibia, Short...	ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Recurrent fractures, Single transverse palmar...	OMIM:309583
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossifica...	ORPHA:485
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,...	ORPHA:94089
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Abnormal thorax morphology, ...	ORPHA:902
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ...	OMIM:605822
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Microcephaly, Small hand, Short foot, Short palm	OMIM:241410
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Brachydactyly	OMIM:602361
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Xylt1-Cdg	Joint laxity, Relative macrocephaly, Pes planus, Coxa valga, Microcephaly, Flared metaphysis, Sho...	ORPHA:370930
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tar...	OMIM:276820
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Wide anterior fontanel, Ulnar bowing, Shortening o...	OMIM:619135
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort...	ORPHA:488434
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Vertebral segmentation defect, R...	OMIM:611209
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibial bowing, Short t...	OMIM:601559
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate ribs, Thin ribs, Femora...	OMIM:618188
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon...	OMIM:260400
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Microcephaly, Kyphosi...	ORPHA:2311
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Abnormality of the lower limb, Bell-shaped th...	ORPHA:313855
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Ky...	ORPHA:958
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo...	OMIM:182212
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo...	ORPHA:666
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S...	ORPHA:79443
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narrow foot, Knee ...	OMIM:600920
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced...	ORPHA:667
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho...	ORPHA:2050
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, S...	OMIM:227270
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ...	OMIM:616507
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pedal edema, Pa...	ORPHA:77259
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Relative macrocephaly, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bo...	OMIM:616300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short h...	ORPHA:2710
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm...	OMIM:109400
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Abnormal shoulder morphology, Scoliosis, Cervical C2/C3 vertebral fusion...	ORPHA:2345
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma...	ORPHA:35687
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin...	OMIM:103580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Latera...	OMIM:617895
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Tracheomalacia, Pectus excavatum, Craniofacial osteosclerosis, Osteopathia striat...	OMIM:300373
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Desmosterolosis	Relative macrocephaly, Rhizomelia, Microcephaly, Generalized osteosclerosis, Bilateral talipes eq...	OMIM:602398
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Broad skull, Elbow fle...	OMIM:608328
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac...	ORPHA:1652
Omodysplasia 2	Short humerus, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/extension, Hypo...	OMIM:164745
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Met...	OMIM:259770
Bent Bone Dysplasia Syndrome 1	Bent long bone, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial ossification, Sho...	OMIM:614592
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P...	OMIM:224690
Sanjad-Sakati Syndrome	Short foot, Small hand, Patchy osteosclerosis, Microcephaly	ORPHA:2323
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N...	OMIM:304120
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Mosaic Trisomy 14	Camptodactyly of finger, Lower limb asymmetry, Abnormal rib morphology, Narrow chest, Bilateral s...	ORPHA:1703
Kinsship Syndrome	Osteopenia, Pes planus, Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocatio...	OMIM:619297
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Elbow dis...	OMIM:108721
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Microcephaly, Abnormal rib morpholo...	ORPHA:3242
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Microcephaly, Short metatarsal, Small ha...	OMIM:614813
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2-3 toe syndactyly...	OMIM:618162
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa...	OMIM:617102
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Palmoplantar hy...	OMIM:601812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Wide anterior fontanel, Preaxial polydactyly, Hypop...	OMIM:617925
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s...	OMIM:308050
Autosomal Dominant Spondylocostal Dysostosis	Microcephaly, Missing ribs, Hyperlordosis, Short thorax, Abnormal rib morphology, Vertebral segme...	ORPHA:1797
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology,...	OMIM:274000
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum...	OMIM:304150
Shox-Related Short Stature	Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under...	ORPHA:314795
Three M Syndrome 2	Relative macrocephaly, Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short thorax, Thin ...	OMIM:612921
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T...	ORPHA:163966
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Enlarged thor...	ORPHA:584
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split...	OMIM:200980
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Single transverse palmar crease, Osteopetrosis	OMIM:618541
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas...	OMIM:218330
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Proximal placement of thumb, Short hallux, Hal...	OMIM:140000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Achilles tendon calcification, Calvarial osteosclerosis, Metacarpal periosteal thicke...	OMIM:617994
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612462
Brachytelephalangic Chondrodysplasia Punctata	Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv...	ORPHA:79345
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Metaphyseal...	OMIM:250250
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic ilia, Hypopla...	OMIM:169550
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T...	ORPHA:1120
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Microc...	ORPHA:33364
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Relative macrocephaly, Broad c...	OMIM:151050
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Kyphosis, Genu valgum, Broad ribs,...	ORPHA:583
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Syndactyly, ...	ORPHA:2839
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ...	ORPHA:85165
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Split hand, Flat acetabular roof,...	OMIM:252500
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Rib fusion,...	ORPHA:263508
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Flexion contracture, Talipes calcaneovalgus, Knee flexion contractur...	OMIM:265000
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ...	ORPHA:3301
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Microcephaly, Kyphosis, Flexion contracture, Short meta...	OMIM:248800
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn...	ORPHA:95699
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi...	ORPHA:221016
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl...	OMIM:619698
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest,...	ORPHA:96334
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph...	ORPHA:221008
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Camptodactyly of finger, Abn...	ORPHA:251014
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, ...	OMIM:258480
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor...	ORPHA:77258
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, M...	OMIM:615503
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness	OMIM:252920
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Pde4D Haploinsufficiency Syndrome	Joint laxity, Pes planus, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb...	ORPHA:439822
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly...	ORPHA:2588
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon...	OMIM:607944
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Macrocephaly, Abnormal vertebral morph...	ORPHA:261197
Aspartylglucosaminuria	Pes planus, Abnormal morphology of ulna, Joint stiffness, Pectus carinatum, Arthritis, Anterior b...	ORPHA:93
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Flaring of rib cage...	OMIM:612852
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb...	OMIM:252930
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Robinow Syndrome, Autosomal Recessive 1	Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx of hand, Dis...	OMIM:268310
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Pectus exc...	ORPHA:2215
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffne...	OMIM:253200
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology, Microcephaly	OMIM:614886
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Joint stiffness, Pectus excavatum, ...	OMIM:253220
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Thin ribs...	OMIM:614008
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Femoral bowing, Short long bone, Narrow ches...	OMIM:617022
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Abnormal ...	ORPHA:79474
Mosaic Trisomy 8	Camptodactyly of finger, Limitation of joint mobility, Abnormal rib morphology, Patellar aplasia,...	ORPHA:96061
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Abnormal tibia...	ORPHA:2879
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Cr...	ORPHA:309282
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Tall lumbar vertebral bodies, Osteoporosis, Foot acroos...	OMIM:102500
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f...	OMIM:312150
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,...	ORPHA:261344
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh...	OMIM:608149
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f...	OMIM:253290
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Pes planu...	OMIM:213980
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Broad palm, Macrocephaly, Shor...	OMIM:269860
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Joint stiffness, Pectus excavatum, Decreased fibular diameter, Flexion co...	OMIM:619127
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Lower limb asymmetry, Abnormal femur morphology, Upper limb asymmetry, A...	ORPHA:2063
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Microcephaly, Short metatarsal,...	OMIM:170390
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, S...	ORPHA:2519
Hallermann-Streiff Syndrome	Abnormality of the hand, Microcephaly, Pectus excavatum, Hyperlordosis, Metaphyseal widening, Thi...	OMIM:234100
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Supernumer...	OMIM:122600
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Scoliosis	ORPHA:1300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Microcephaly, Pa...	ORPHA:2554
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Narrow foo...	OMIM:600383
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Block vertebrae, Kyphoscoliosis, Rib fusion, Hemivertebrae, Vertebral segmentat...	OMIM:277300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi...	ORPHA:254528
Kbg Syndrome	Vertebral fusion, Syndactyly, Single transverse palmar crease, Microcephaly, Rib fusion, Vertebra...	OMIM:148050
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Microcepha...	ORPHA:280
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bo...	ORPHA:1834
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Microcephaly	ORPHA:276422
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Limitation of joint mobility, Abnormal rib...	ORPHA:93473
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t...	ORPHA:581
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Alagille Syndrome	Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:52
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short phalanx of fing...	OMIM:266920
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Aspergillosis	Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Eosinophilia	ORPHA:1163
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Microcephaly, Pectus excavatum, Abnormal foot morphol...	ORPHA:2990
Radio-Renal Syndrome	Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal...	ORPHA:3015
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib morphology, Hypoplasia of ...	ORPHA:3404
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Microcephaly	ORPHA:280195
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Autosomal Recessive Robinow Syndrome	Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilateral single...	ORPHA:1507
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Vertebral clefting, Rib fusion, Hemivertebrae	OMIM:608681
Williams Syndrome	Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of...	ORPHA:904
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Hemi...	OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Talipes e...	OMIM:301066
Monosomy 9Q22.3	Pectus excavatum, Palmar pits, Kyphosis, Plantar pits, Abnormal rib morphology, Joint hyperflexib...	ORPHA:77301
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra...	OMIM:252940
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Overlapping toe, Microcephaly, Pectus excavatum, Hip dislocation, Absent Achilles r...	OMIM:618268
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Single tran...	OMIM:194190
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Microcephaly, Short t...	OMIM:139210
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of th...	ORPHA:2234
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Pectus excavatum, Sandal gap, Abnormal fibula morphology, Macrocephaly	ORPHA:1812
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal v...	OMIM:118100
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Aicardi Syndrome	Block vertebrae, Missing ribs, Microcephaly, Rib fusion, Small hand, Hip dysplasia, Supernumerary...	ORPHA:50
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Broad skull, Osteolysis, Abnormal long bone morphology, Arthritis, A...	ORPHA:228123
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Kyphoscoliosis, Wide anterior...	ORPHA:798
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the ...	ORPHA:887
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Pectus excavatum, Postaxial hand polydact...	OMIM:613610
Charge Syndrome	Talipes, Microcephaly, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid f...	ORPHA:138
Zttk Syndrome	Relative macrocephaly, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, H...	OMIM:617140
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of...	ORPHA:254519
Trisomy 18	Camptodactyly of finger, Microcephaly, Abnormality of the lower limb, Postaxial hand polydactyly,...	ORPHA:3380
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Monosomy 9P	Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Microcephaly, Pectus excavatum, Rickets, Reduced bone mineral density, ...	OMIM:613658
Oculocerebrorenal Syndrome Of Lowe	Recurrent fractures, Osteomalacia, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc...	ORPHA:534
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Microcephaly, Rib fusion, Hemivertebr...	OMIM:304050
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Microcephaly, Kyphosis, Postaxial han...	ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Microcephaly, C...	ORPHA:83617
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,...	ORPHA:2907
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures	ORPHA:2785
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Rib fusion, Macrocephaly, Clinodactyly of the 5th finger	ORPHA:544488
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Flexion contracture, Thin ribs	OMIM:614833
Cerebrofaciothoracic Dysplasia	Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, Macrocephaly,...	ORPHA:1394
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Cloacal Exstrophy	Abnormal tibia morphology, Absent foot, Hip dislocation, Abnormal fibula morphology, Hemivertebra...	ORPHA:93929
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Rocker ...	OMIM:208150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Microcephaly, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cerv...	ORPHA:444077
Autosomal Dominant Centronuclear Myopathy	Macrocephaly at birth, Proximal muscle weakness in upper limbs, Abnormality of the foot musculatu...	ORPHA:169189
Gm1-Gangliosidosis, Type I	Thickened ribs, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of ve...	OMIM:230500
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl...	ORPHA:2908
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs, Short ribs...	OMIM:271520
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Fus...	OMIM:157800
Dextrocardia	Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr...	ORPHA:217085
Lymphangiectasia, Intestinal	Prominent floating ribs, Pedal edema	OMIM:152800
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Th...	OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr...	ORPHA:217093
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent th...	ORPHA:500150
Pallister-Hall Syndrome	Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly affecting the 4th fi...	ORPHA:672
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Microcephaly, Lower limb asymmetry, K...	ORPHA:1606
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs	OMIM:614857
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Thin ribs	OMIM:615368
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypoplastic ilia, Long fingers, Flexion contracture, Thin r...	OMIM:264090
Microphthalmia, Syndromic 3	Vertebral fusion, Microcephaly, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butt...	OMIM:206900
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Flexion contracture, ...	OMIM:256040
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Microcephaly, Metatarsus adductus, Wide anterior fonta...	OMIM:607872
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Missing ribs, Small hand, Arthritis, T...	ORPHA:3310
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d...	OMIM:118450
Pseudo-Torch Syndrome 2	Microcephaly, Thin ribs	OMIM:617397
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Microcephaly, Ab...	OMIM:214800
Benign Schwannoma	Abnormal fibula morphology	ORPHA:252164
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Microcephaly	ORPHA:991

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 Cxxc5

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 Cxxc5.

No publications found that use IMPC mice or data for Cxxc5.

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
Cxxc5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cxxc5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cxxc5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cxxc5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cxxc5^{tm1a(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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