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Gene: Pax1 MGI:97485

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

paired box 1

Synonyms:

Pax-1, wavy tail, hbs, wt, hunchback

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 Pax1 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 Pax1 (2 diseases)
Human diseases predicted to be associated with Pax1 (1482 diseases)

The table below shows human diseases associated to Pax1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Otofaciocervical Syndrome 2, With T-Cell Deficiency		Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Otofaciocervical Syndrome		Abnormal clavicle morphology, Scapular winging, Down-sloping shoulders	ORPHA:2792

The table below shows human diseases predicted to be associated to Pax1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Protrusio acetabuli, Biconcave verte...	OMIM:613982
Scoliosis, Isolated, Susceptibility To, 1	Scoliosis	OMIM:181800
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Abnormality of lower limb joint, Camptodactyly of finger, Scoliosis	ORPHA:85164
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Epilepsy-Microcephaly-Skeletal Dysplasia Syndrome	Scoliosis	ORPHA:1948
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face	Scoliosis	OMIM:601352
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Posterior Column Ataxia	Scoliosis	OMIM:176250
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f...	OMIM:609324
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla...	OMIM:616583
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Vertebral compression fract...	OMIM:620232
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Morquio Syndrome C	Platyspondyly	OMIM:252300
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body...	OMIM:184255
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vertebral endplates...	OMIM:618395
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Wo...	OMIM:610968
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Pseudodiastrophic Dysplasia	Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis	ORPHA:85174
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Short neck, Genu varum, Platyspondyly, Short ribs, Scoliosis, Vertebral com...	OMIM:602557
Tibial Torsion, Bilateral Medial	Scoliosis	OMIM:188800
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension, Genu varum	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Geroderma Osteodysplastica	Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Platyspon...	ORPHA:2078
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc...	ORPHA:93352
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Scoliosis	OMIM:213000
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis...	ORPHA:2619
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Intellectual Developmental Disorder, Autosomal Dominant 33	Scoliosis	OMIM:616311
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Scoliosis	ORPHA:2802
Osteogenesis Imperfecta, Type Xviii	Wormian bones, Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs	OMIM:617952
Hypertrichosis, Congenital Generalized	Scoliosis	OMIM:307150
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow...	OMIM:156530
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Cole-Carpenter Syndrome 1	Coronal craniosynostosis, Scoliosis, Wormian bones, Vertebral compression fracture, Orbital crani...	OMIM:112240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology...	ORPHA:3268
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Myasthenic Syndrome, Congenital, 13	Scoliosis	OMIM:614750
Mycetoma	Back pain, Abnormality of the knee, Vertebral compression fracture, Abnormal form of the vertebra...	ORPHA:2583
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Hip dislocation, Knee dislocation, Hip dysplasia, Hammertoe, Scoliosis	ORPHA:370943
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract...	OMIM:610967
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Beaded ribs, Platyspondyly, Wormian bones, Vertebral compression fracture	OMIM:616229
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Congenital Amegakaryocytic Thrombocytopenia	Scoliosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3319
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Na...	OMIM:602484
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Cervical Rib	Cervical ribs	OMIM:117900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ...	ORPHA:2522
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Geroderma Osteodysplasticum	Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic...	OMIM:231070
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:259450
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly	OMIM:184840
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ...	ORPHA:370010
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Short neck	ORPHA:2015
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Fg Syndrome 4	Scoliosis	OMIM:300422
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow...	OMIM:602271
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased...	OMIM:259440
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Platyspon...	OMIM:265900
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De...	OMIM:602111
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit...	OMIM:619598
Hereditary Neuropathy With Liability To Pressure Palsies	Scoliosis	ORPHA:640
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Scoliosis	OMIM:608673
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me...	ORPHA:93351
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S...	OMIM:122600
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Vertebral compression fracture	OMIM:602080
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Kuskokwim Syndrome	Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella	ORPHA:1149
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Osteogenesis Imperfecta, Type Xvii	Vertebral compression fracture, Hip dislocation, Platyspondyly, Kyphoscoliosis	OMIM:616507
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ...	OMIM:256050
Buschke-Ollendorff Syndrome	Scoliosis	OMIM:166700
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes...	OMIM:601344
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of...	ORPHA:429
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal vertebral morphology	OMIM:618709
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis	ORPHA:530983
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Split Cord Malformation Type I	Scoliosis	ORPHA:1671
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Osteogenesis Imperfecta, Type Viii	Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Wormian bones, Vertebral compression fracture	OMIM:610915
Diaphanospondylodysostosis	Short neck, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno...	ORPHA:66637
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Patellar dislocation, Osteochondrosis, Abnormal vertebral morphology,...	ORPHA:96183
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr...	OMIM:118100
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Thin ribs, Genu valgum, Platyspondyly, Scoliosis, Bro...	OMIM:613848
Osteogenesis Imperfecta, Type Xx	Wormian bones, Vertebral compression fracture, Kyphoscoliosis	OMIM:618644
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Robin Sequence-Oligodactyly Syndrome	Abnormal form of the vertebral bodies	ORPHA:3104
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Anterior rib cupping, Short neck, Advanced ossification of carpal bones, ...	OMIM:269250
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly, Abnormal hip...	ORPHA:294975
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting	OMIM:155050
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy...	OMIM:601438
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Large joint dislocations, Genu valgum, Irregular vertebral endplates,...	OMIM:603546
Gaucher Disease, Type I	Vertebral compression fracture	OMIM:230800
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:1354
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Absence Deformity Of Leg-Cataract Syndrome	Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Scoliosis, Lower limb un...	ORPHA:2310
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Vertebral fusion	OMIM:618845
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly...	ORPHA:166024
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals	OMIM:277950
Fibrochondrogenesis 2	Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pla...	OMIM:614524
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me...	ORPHA:93346
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral...	OMIM:619345
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ...	OMIM:610313
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wormian bones, Broad ribs, Vertebral arch anomaly	ORPHA:85184
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:2790
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis	ORPHA:1345
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyperflexi...	ORPHA:250984
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Arthrogryposis, Impaired Intellectual Development, And Seizures	Camptodactyly of finger, Hip dislocation, Knee dislocation, Scoliosis, Arthrogryposis multiplex c...	OMIM:615553
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis	ORPHA:71267
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia...	ORPHA:508533
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e...	OMIM:234250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene...	ORPHA:93360
Spondylometaphyseal Dysplasia, Pagnamenta Type	Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sho...	OMIM:619638
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of th...	ORPHA:319195
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, Kyphoscoliosi...	OMIM:259600
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Narrow pelvis bone, Irregular vertebral ...	OMIM:187760
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper...	ORPHA:63446
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od...	OMIM:264180
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ...	ORPHA:916
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Osteosclerotic Metaphyseal Dysplasia	Sclerotic vertebral endplates	OMIM:615198
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor...	ORPHA:2900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture, Osteoarthritis	ORPHA:77259
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Squared iliac b...	OMIM:618000
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger, Scoliosis	ORPHA:376
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Coxa vara,...	ORPHA:1824
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,...	ORPHA:296
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:611225
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol...	OMIM:619131
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Proximal placement of thumb, Short neck, Abnormal rib morphology, Platy...	ORPHA:93267
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Biconvex vertebral bodies, Genu recurvatum, Metaphyseal widening...	OMIM:184260
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Joint stiffness, Limitation of join...	ORPHA:1801
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars...	OMIM:615222
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morphology, Abnormal ve...	ORPHA:90653
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Odontochondrodysplasia	Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, Platyspondyl...	ORPHA:166272
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo...	ORPHA:1837
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe...	ORPHA:2631
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Becker Nevus Syndrome	Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Retinitis Pigmentosa 71	Scoliosis	OMIM:616394
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Vertebral compression fracture, Kyphoscoliosis, Scoliosis, Short neck	OMIM:309583
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephalocel...	OMIM:108720
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert...	OMIM:244600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa...	OMIM:215150
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Scoliosis	OMIM:246000
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap...	ORPHA:85166
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis	OMIM:300434
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Hypoplasia of...	ORPHA:239
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split foot, Split hand, Scoliosis, Tapered finger	OMIM:220600
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Congenital bilateral hip dislocation	ORPHA:85288
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Narrow vertebral interpedicular distance, Scoliosis, Short neck	OMIM:620073
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coronal cleft vertebrae, Genu varum	ORPHA:1952
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Thoracic kyphosis, Delayed ossi...	OMIM:271510
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Flaring of rib c...	OMIM:612852
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic ilia, Short toe, Lim...	OMIM:607095
Kniest Dysplasia	Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Short neck, Tracheomalacia, Delayed ...	OMIM:156550
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Kyphoscoliosis, Genu valgum	OMIM:255710
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A...	OMIM:253000
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Wide cranial sutures, Protrusio acetabuli, Scoliosis, Wormian bones, Vert...	OMIM:610682
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing...	OMIM:612350
Achondroplasia	Lumbar hyperlordosis, Lumbar kyphosis in infancy, Short ribs, Spinal stenosis with reduced interp...	OMIM:100800
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Abnormality of th...	ORPHA:163649
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Hajdu-Cheney Syndrome	Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Genu valgum, Crowded carpal bones, Cerv...	OMIM:102500
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Del...	ORPHA:582
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Genu valgum, Hip dysplasia, Posterior s...	OMIM:619698
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Hemihyperplasia, Isolated	Scoliosis	OMIM:235000
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of...	ORPHA:83468
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Platyspondyly, Shortening of all phalanges of fingers, Shortening of all metacarpals	OMIM:601356
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B...	ORPHA:313892
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala...	ORPHA:1826
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Joint stiffness, Ulnar deviation of ...	ORPHA:1147
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Alagille Syndrome	Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp...	ORPHA:52
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu...	ORPHA:163966
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Cox...	ORPHA:1240
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypop...	ORPHA:93315
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl...	OMIM:617159
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture,...	ORPHA:263463
Camptodactyly Syndrome, Guadalajara Type 2	Cuboid-shaped vertebral bodies, Hip dislocation, Camptodactyly of finger, Patellar hypoplasia	ORPHA:1326
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly	ORPHA:1445
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent thumb, Short neck, Short thumb, Hyp...	OMIM:609053
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma...	ORPHA:64754
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp...	OMIM:151210
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,...	OMIM:618853
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m...	ORPHA:2319
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Spondyloocular Syndrome	Vertebral compression fracture, Platyspondyly	OMIM:605822
Monosomy 5P	Microretrognathia, Finger syndactyly, Short neck, Small hand, Scoliosis	ORPHA:281
Multiple Myeloma	Vertebral compression fracture	ORPHA:29073
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses, Platys...	OMIM:612813
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Broad-based gait, S...	OMIM:616716
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia	OMIM:620007
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Short neck, Abnormality of the humerus, Kyphosis, Preaxia...	ORPHA:3098
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h...	OMIM:618958
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Osteogenesis Imperfecta	Multiple rib fractures, Cervical kyphosis, Protrusio acetabuli, Kyphosis, Osteoarthritis, Vertebr...	ORPHA:666
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi...	OMIM:301014
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C...	ORPHA:2332
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver...	OMIM:212780
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process, Scoliosis, N...	OMIM:250250
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t...	OMIM:615155
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Delayed epiphyseal ossification, Fragmented epiphyses, Fibul...	ORPHA:166016
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies...	ORPHA:2831
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft ver...	OMIM:620076
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253010
Shashi-Pena Syndrome	Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2...	OMIM:617190
Myhre Syndrome	Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Broad ribs	OMIM:139210
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Short neck, Tombstone...	OMIM:108721
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Faci...	OMIM:607323
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal...	OMIM:144750
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Porphyria, Congenital Erythropoietic	Vertebral compression fracture, Joint contracture of the hand	OMIM:263700
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Short neck, Craniosynost...	OMIM:178110
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Carious teeth, Hip dislocation,...	OMIM:203550
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdo...	OMIM:616294
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis	OMIM:612913
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b...	ORPHA:85167
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints	OMIM:182940
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pseudoarthrosis, Short ribs, Scoliosis, Missing ribs	OMIM:618155
Masa Syndrome	Kyphosis, Adducted thumb, Hyperlordosis	OMIM:303350
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preaxial polydactyly, 2-3 toe s...	OMIM:617866
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Kbg Syndrome	Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Thoracic kyphosis, Cervical ribs	OMIM:148050
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hemivertebrae, Vertebral wedging, Scoliosis, Brachydactyly	ORPHA:377
Nephronophthisis 20	Scoliosis	OMIM:617271
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la...	OMIM:615777
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va...	OMIM:617425
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Hip dysp...	ORPHA:2655
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthrit...	OMIM:108300
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,...	OMIM:239850
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Dysosteosclerosis	Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert...	ORPHA:1782
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi...	OMIM:611717
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Hypoplastic scapulae, Scoliosis, Femoral retroversion	ORPHA:79107
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of...	ORPHA:1486
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen...	OMIM:142900
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Scoliosis, Abnormality...	ORPHA:1825
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis, Tapered finger	ORPHA:276630
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Hall-Riggs Syndrome	Joint stiffness, Delayed skeletal maturation, Platyspondyly, Abnormal epiphysis morphology, Scoli...	ORPHA:2107
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Clinodactyly	OMIM:615984
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Cutis Laxa, Autosomal Dominant 2	Scoliosis	OMIM:614434
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis	OMIM:616756
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs...	OMIM:613686
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Zimmermann-Laband Syndrome 3	Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs...	OMIM:618658
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening	OMIM:183700
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Hip di...	OMIM:619451
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu...	OMIM:130060
Shox-Related Short Stature	Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lowe...	ORPHA:314795
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Arachnodactyly, Scoliosis	ORPHA:1548
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Vertebral clefting, Increased susceptibility to fractures, ...	OMIM:241500
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism...	ORPHA:710
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form...	ORPHA:2021
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the ve...	OMIM:166600
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro...	OMIM:600325
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Verheij Syndrome	Joint laxity, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Short 5th finger, Sco...	OMIM:615583
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ...	ORPHA:2840
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po...	OMIM:252100
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul...	OMIM:143095
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ...	OMIM:617926
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis	OMIM:617796
Gm1-Gangliosidosis, Type Ii	Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, L...	OMIM:230600
Pde4D Haploinsufficiency Syndrome	Irregular vertebral endplates, Caudal interpedicular narrowing	ORPHA:439822
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Acrodysostosis 1 With Or Without Hormone Resistance	Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosis, Narrow vertebral interpedicular d...	OMIM:101800
Hurler-Scheie Syndrome	Abnormal vertebral morphology, Spinal canal stenosis	ORPHA:93476
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Cr...	OMIM:602471
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Large hands, Talipes equino...	ORPHA:3447
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Fetal Akinesia Deformation Sequence 4	Kyphosis, Rocker bottom foot, Camptodactyly, Short neck	OMIM:618393
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
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
Atelosteogenesis Type I	Joint dislocation, Short femur, Abnormal ossification involving the femoral head and neck, Abnorm...	ORPHA:1190
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin...	ORPHA:93307
Cdkl5-Deficiency Disorder	Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis	ORPHA:505652
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, Knee...	ORPHA:75840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Hip dysplasia, Scoliosis	OMIM:615290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio...	ORPHA:1323
Maxillonasal Dysplasia	Patchy distortion of vertebrae, Vertebral clefting, Scoliosis	ORPHA:1248
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Larsen Syndrome	Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo...	ORPHA:503
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand...	ORPHA:958
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Scoliosis	OMIM:619091
Isolated Growth Hormone Deficiency, Type Ii	Scoliosis	OMIM:173100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss...	OMIM:607155
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho...	ORPHA:2050
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Synostosis of carpal bones	ORPHA:3238
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, Flared iliac wi...	OMIM:252605
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi...	ORPHA:1860
Jung Syndrome	Abnormal form of the vertebral bodies	ORPHA:2321
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp...	ORPHA:392
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ...	OMIM:618150
Thanatophoric Dysplasia Type 2	Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnormal metaphysi...	ORPHA:93274
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste...	ORPHA:324964
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb...	ORPHA:628
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum,...	ORPHA:93160
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Increased interve...	OMIM:607944
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa...	OMIM:272460
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp...	ORPHA:93317
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,...	OMIM:211350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int...	ORPHA:508498
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Shwachman-Diamond Syndrome	Abnormal joint morphology, Vertebral compression fracture	ORPHA:811
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t...	ORPHA:3152
Ruvalcaba Syndrome	Short metacarpal, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Short foot, Sc...	OMIM:180870
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly	ORPHA:3004
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg...	ORPHA:2756
17Q12 Microduplication Syndrome	Abnormal vertebral morphology	ORPHA:261272
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Vacterl Association With Hydrocephalus	Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:276950
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Dermotrichic Syndrome	Abnormal vertebral morphology	ORPHA:99688
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis	ORPHA:1875
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Flexion contracture, Epiphyseal stippling, Coronal cleft v...	OMIM:222765
Spondylo-Ocular Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck	ORPHA:85194
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi...	OMIM:101200
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum	OMIM:258850
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi...	ORPHA:87
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Talipes equinova...	OMIM:614815
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Thoracic kyphosis, Clinodactyly, Retrognathia	OMIM:619092
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th...	OMIM:253220
Opsismodysplasia	Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg...	OMIM:607131
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Bowing of the legs, Hip joint hypermobility, Kyphosis, Short...	ORPHA:15
Osteoglosphonic Dysplasia	Craniosynostosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2645
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Scoliosis, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:2180
Cleidocranial Dysplasia	Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased skull ossificatio...	ORPHA:1452
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Scoliosi...	OMIM:615761
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:250620
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Micrognathia	ORPHA:1514
Aarskog-Scott Syndrome	Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Small hand, Short foot, ...	ORPHA:915
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Scoliosis	OMIM:611890
Caudal Duplication	Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation defect	ORPHA:1756
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, Micrognathia, Supernumerary tooth, Small hand, Abnormal form of th...	ORPHA:1787
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck...	OMIM:242900
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Clinodactyly, Scoliosis, Short neck	ORPHA:178148
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Ck Syndrome	Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis	OMIM:300831
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth ...	ORPHA:2839
Sandhoff Disease	Kyphosis	ORPHA:796
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Decre...	OMIM:617137
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Tripha...	ORPHA:2994
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,...	ORPHA:2311
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ...	OMIM:157800
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Bowing of the l...	OMIM:200600
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Short fir...	OMIM:613684
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Scoliosis	OMIM:615284
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Biliary hyperplasia, Contracture of th...	ORPHA:83617
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs	ORPHA:2759
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Scoliosis	OMIM:618124
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept...	OMIM:166200
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Mucolipidosis Ii Alpha/Beta	Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Craniosynostosis, Hypoplasia of the odontoi...	OMIM:252500
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered fi...	OMIM:619721
Omodysplasia 2	Short humerus, Cryptorchidism, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hu...	OMIM:164745
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ...	OMIM:618476
Cushing Disease	Vertebral compression fracture	ORPHA:96253
Lopes-Maciel-Rodan Syndrome	Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis	OMIM:617435
Moebius Syndrome	Syndactyly, Brachydactyly, Short neck, Micrognathia, Split hand, Abnormal pelvic girdle bone morp...	OMIM:157900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Scoliosis, Flexion contracture of finger, Adducted thumb	OMIM:618484
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Myopathic Ehlers-Danlos Syndrome	Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Ankle flex...	ORPHA:536516
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Limb muscle weakness, Abnor...	ORPHA:217260
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:85317
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty...	OMIM:175700
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, De...	OMIM:609128
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Kyphosis, Abnormality of the...	ORPHA:1005
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnormal diaphysis mor...	ORPHA:3409
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl...	ORPHA:137834
Cousin Syndrome	Hypoplastic scapulae, Hypoplastic ischia, Short neck, 4-5 toe syndactyly, Humeroradial synostosis...	OMIM:260660
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs	OMIM:615633
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split...	OMIM:200980
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:239800
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Clark-Baraitser syndrome	Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm	OMIM:300602
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormal pelvis bone ...	ORPHA:166119
Pycnodysostosis	Persistent open anterior fontanelle, Wormian bones, Increased bone mineral density, Aplastic clav...	OMIM:265800
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Knee disloca...	OMIM:245600
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly	OMIM:616368
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, ...	ORPHA:79255
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o...	OMIM:109400
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Abnormal form of the vertebral bodies	ORPHA:93262
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scolios...	OMIM:619269
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Elbow disl...	OMIM:150250
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,...	ORPHA:3121
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic clavicle, Ac...	ORPHA:50945
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn...	ORPHA:536467
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Abnormality of the cervical spine, Camptodactyly of finger, Scoliosis	ORPHA:48431
Scarf Syndrome	Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Joint hyperflexibility, Shor...	ORPHA:3134
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joi...	ORPHA:536471
Atelosteogenesis Type Iii	Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality...	ORPHA:56305
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Malar flattening, 2-3 finger syndactyly, Dental malocclusion, ...	OMIM:269500
Alpha-Mannosidosis	Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplasia, Scoliosis, Hypoplastic ...	ORPHA:61
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast...	OMIM:119600
Phaver Syndrome	Camptodactyly of finger, Abnormal rib morphology, Abnormal form of the vertebral bodies, Radiouln...	ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul...	OMIM:610442
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly	OMIM:181405
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
3M Syndrome	Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Hyperlordosis, Short neck...	ORPHA:2616
Gm1 Gangliosidosis	Ataxia, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Unsteady...	ORPHA:354
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Anter...	OMIM:102700
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen...	OMIM:308050
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma...	ORPHA:1830
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax...	ORPHA:93357
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Brachydactyly, Hyperlordosis	ORPHA:3085
Codas Syndrome	Coronal cleft vertebrae, Congenital hip dislocation, Scoliosis, Abnormal form of the vertebral bo...	ORPHA:1458
Mosaic Trisomy 14	Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short...	OMIM:613458
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co...	OMIM:309350
Singleton-Merten Syndrome 2	Osteopenia, Joint subluxation, Scoliosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Kyphosis, Hip dislocation, Scoliosis, ...	OMIM:618291
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermobility	OMIM:602196
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val...	OMIM:304150
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Kyphosis, Abno...	ORPHA:261318
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Abnormal vertebr...	ORPHA:3224
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Fibrous syn...	ORPHA:1300
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,...	OMIM:305400
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:613576
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto...	ORPHA:90652
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Short neck	ORPHA:251046
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Vertebral segmentation defect, Hip dysplasia, Polydactyly, Scoliosis	ORPHA:531151
Osteoglophonic Dysplasia	Osteopenia, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, Increased vertebral height, Scoliosis, Camptodactyly, Camptodactyly of toe, Broad...	OMIM:610474
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:2617
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb,...	ORPHA:435638
Ritscher-Schinzel Syndrome 1	Syndactyly, Micrognathia, Hemivertebrae, Missing ribs	OMIM:220210
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert...	OMIM:314390
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Arthrogryposis, Distal, Type 5	Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Congenital finger fl...	OMIM:108145
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C...	ORPHA:251014
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P...	OMIM:114290
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se...	ORPHA:96169
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scol...	OMIM:300280
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
4Q21 Microdeletion Syndrome	Toe syndactyly, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Alagille Syndrome 1	Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch	OMIM:118450
Distal Deletion 13Q	Abnormal form of the vertebral bodies	ORPHA:1590
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Genu valgum, Short neck	ORPHA:2983
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Kyphosis, Scoliosis	OMIM:615834
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia	OMIM:226700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Achondrogenesis Type 1B	Short thorax, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:93298
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin...	ORPHA:2437
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Abnormal metaphy...	ORPHA:583
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Abnormal form of the ve...	ORPHA:1305
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn...	OMIM:236500
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis	OMIM:609008
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth ho...	ORPHA:1855
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl...	OMIM:614701
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ...	ORPHA:1834
Scarf Syndrome	Short neck, Abnormal form of the vertebral bodies, Short sternum, Lambdoidal craniosynostosis, Co...	OMIM:312830
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,...	OMIM:600920
Orofaciodigital Syndrome Type 3	Postaxial foot polydactyly, Thoracic kyphosis, Postaxial hand polydactyly, Short sternum	ORPHA:2752
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli...	ORPHA:284984
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Kyphosis, Abnormal fo...	ORPHA:3219
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Femoral-Facial Syndrome	Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S...	ORPHA:1988
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Scoliosis, Camptodactyly, C...	OMIM:615547
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Short lower limbs, Kyphoscoliosis	ORPHA:96190
Crisponi Syndrome	Kyphosis, Camptodactyly of finger, Scoliosis	ORPHA:1545
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Ataxia, Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi...	OMIM:619762
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Joint contracture of the hand, Joint contracture of the 5th finger, Scoliosis	ORPHA:352490
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Hyperlordosis, Shor...	ORPHA:1798
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian morphology, Abnormalit...	ORPHA:95699
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Hip contracture, Prominent metopic ridge, Short neck, Elbow dislocation, Hip di...	OMIM:210710
Eem Syndrome	Carious teeth, Finger syndactyly, Ectrodactyly	ORPHA:1897
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally...	ORPHA:800
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Myhre Syndrome	Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morpho...	ORPHA:2588
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Scoliosis, Genu valgum	OMIM:611560
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Small hand, Hypoplasia of the...	ORPHA:1786
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Marinesco-Sjogren Syndrome	Short metacarpal, Coxa valga, Kyphosis, Short metatarsal, Scoliosis, Cubitus valgus	OMIM:248800
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl...	OMIM:263750
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Bo...	ORPHA:3042
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck	ORPHA:3191
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Long palm, Camptodactyly of finger, T...	ORPHA:2215
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Cryptorchidism, Meningocele, Scler...	OMIM:130720
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Tracheomalacia, Small hand, Fibular hypopl...	ORPHA:444077
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly	OMIM:616482
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Punctate vertebral calcifications,...	OMIM:302960
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Cortical thickening of long bone diaphyses, Hypoplastic i...	ORPHA:309282
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Ataxia, Liver abscess, Eosinophilia, Pancreatic c...	ORPHA:284
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Deviation...	OMIM:616362
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r...	ORPHA:50
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, S...	ORPHA:2115
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Cryptorchidism, Hypoplasia of the radius, Tal...	OMIM:607143
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:614409
Cushing Syndrome Due To Ectopic Acth Secretion	Vertebral compression fracture	ORPHA:99889
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Wide anterior fontanel	OMIM:618272
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ...	OMIM:169400
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Short r...	OMIM:615503
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, S...	OMIM:272440
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Small prox...	ORPHA:96334
3Mc Syndrome 2	Torticollis, Diastasis recti, Craniosynostosis, Limited elbow movement, Partial abdominal muscle ...	OMIM:265050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Atypical Rett Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	ORPHA:3095
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Broad hallux, Hand polydactyly, Broad thumb	OMIM:239710
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Hip dislocation, Genu valgum, Scoliosis, Ge...	ORPHA:171436
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Increased bone mineral density, Rocker bottom fo...	ORPHA:79474
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hip dislocation, Hip dysplasi...	OMIM:610443
Grant Syndrome	Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest	ORPHA:2097
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Polydactyly, Upper li...	ORPHA:231140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Decrea...	OMIM:213980
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Lateral Meningocele Syndrome	Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodi...	ORPHA:2789
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, Hy...	OMIM:614800
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,...	OMIM:180860
Ullrich Congenital Muscular Dystrophy 1	Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis, Increased laxi...	OMIM:254090
Achondrogenesis Type 1A	Multiple rib fractures, Short thorax, Narrow chest, Short neck	ORPHA:93299
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Kyphosis, Small hand, Short foot, Brachydactyly	OMIM:300354
Wieacker-Wolff Syndrome	Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Scoliosis, Cam...	OMIM:314580
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ...	ORPHA:178303
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Absent radius, Preaxial han...	ORPHA:233
Mosaic Trisomy 1	Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Single transverse palmar...	ORPHA:1692
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hemivertebrae, Scoliosis, Cubitus valgus	OMIM:104350
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j...	OMIM:227330
Radio-Renal Syndrome	Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:3015
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Cryptorchidism...	OMIM:134780
Silver-Russell Syndrome 3	Syndactyly, Small hand, Antecubital pterygium, Clinodactyly of the 5th finger, Retrognathia	OMIM:616489
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of...	OMIM:151050
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Short neck	OMIM:608776
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly	ORPHA:261222
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Short neck, Met...	OMIM:123450
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Hypoplasia...	ORPHA:193
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morphology, Small ...	ORPHA:94065
Oculodentodigital Dysplasia	Mandibular prognathia, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, ...	ORPHA:2710
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Micrognathia, Scoliosis	OMIM:616038
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat...	ORPHA:373
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Fucosidosis	Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa valga, Anterior beakin...	OMIM:230000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
3C Syndrome	Finger syndactyly, Missing ribs, Short neck, Kyphosis, Micrognathia, Hemivertebrae, Hand polydact...	ORPHA:7
Nephronophthisis 15	Polydactyly	OMIM:614845
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Kyphosis, Scoliosis	OMIM:609541
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Kyphosis...	ORPHA:85293
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:613011
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer...	OMIM:304050
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ...	OMIM:303600
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Sialidosis Type 2	Kyphosis	ORPHA:87876
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl...	OMIM:257850
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio...	OMIM:603116
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Rocker bottom foot, Short neck, Kyphosis, Hip dislocation, Scoliosis	OMIM:301041
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Single transverse palmar crease, Ankle flexion contract...	ORPHA:435938
Meckel Syndrome, Type 10	Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po...	OMIM:614175
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro...	OMIM:619879
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Sc...	ORPHA:404440
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Short neck	OMIM:613885
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly, Delayed eruption of teeth	OMIM:619736
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia...	ORPHA:3253
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxial instability, Punctate ...	ORPHA:79345
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, A...	ORPHA:568
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi...	ORPHA:1394
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Overlapping toe, Ulnar dev...	OMIM:605039
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep pal...	ORPHA:254346
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta...	OMIM:619951
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly, Short toe, Anencephaly, Short...	OMIM:269860
Cooper-Jabs Syndrome	Abnormal rib morphology, Scoliosis, Missing ribs	ORPHA:1488
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing...	OMIM:211380
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Short neck, Camptodactyly, Clinodactyly	ORPHA:369891
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion,...	OMIM:194190
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum...	OMIM:612921
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly	OMIM:602501
Momo Syndrome	Delayed skeletal maturation, Short sternum, Short neck	OMIM:157980
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Melnick-Needles Syndrome	Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Anisospondyly	ORPHA:2484
Stickler Syndrome	Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation...	ORPHA:828
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ...	OMIM:618443
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Symphalangism of the thumb, Cli...	ORPHA:1439
Faciocardiomelic Syndrome	Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Slender long bone, Polydactyly...	OMIM:612731
Prune Belly Syndrome	Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis	ORPHA:2970
Flynn-Aird Syndrome	Kyphosis, Scoliosis	ORPHA:2047
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Pycnodysostosis	Brachydactyly, Persistent open anterior fontanelle, Wormian bones, Hyperlordosis, Kyphosis, Small...	ORPHA:763
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoar...	OMIM:613795
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi...	ORPHA:397590
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly	ORPHA:1997
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc...	OMIM:258315
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Stippled calcifi...	ORPHA:51608
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kypho...	ORPHA:464738
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera...	ORPHA:1507
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Joubert Syndrome 33	Syndactyly	OMIM:617767
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Opitz-Kaveggia Syndrome	Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, D...	OMIM:305450
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Scoliosis, Overlapping fingers	OMIM:618316
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly	OMIM:619185
Hurler Syndrome	Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ...	OMIM:607014
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Dental malocclusion, Scoliosis, Me...	OMIM:616894
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Rib fusion, Antecubi...	ORPHA:2990
Genitopalatocardiac Syndrome	Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly	ORPHA:2075
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Elbow dislocation, Cryptorchidism, Patellar dislocation, Short palm, S...	ORPHA:93328
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm, Retrognathia	ORPHA:73246
Mucopolysaccharidosis, Type Iiic	Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis	OMIM:252930
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Thrombocytopenia, Splenomegaly, Parathyroid hypoplasia, Hy...	OMIM:188400
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v...	OMIM:309000
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly	OMIM:618087
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophili...	ORPHA:443811
Marden-Walker Syndrome	Arachnodactyly, Short neck, Kyphosis, Wide anterior fontanel, Radioulnar synostosis, Scoliosis, C...	OMIM:248700
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Joint laxity, Short neck, Crypto...	OMIM:616145
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Weaver Syndrome	Short fourth metatarsal, Toe clinodactyly, Overlapping toe, Coxa valga, Wide distal femoral metap...	OMIM:277590
Rett Syndrome	Short foot, Kyphosis, Scoliosis	OMIM:312750
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs	OMIM:122860
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli...	ORPHA:3378
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly	ORPHA:88628
Infantile-Onset X-Linked Spinal Muscular Atrophy	Cupped ribs, Short ribs, Kyphoscoliosis	ORPHA:1145
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies	OMIM:230500
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Kinsship Syndrome	Mandibular prognathia, Sacral dimple, Single transverse palmar crease, Short neck, Coxa valga, Mi...	OMIM:619297
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs	OMIM:200610
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Cryptorchidism, Humeroradial synostosis, Ovoid thora...	ORPHA:3404
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing...	OMIM:617061
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Short neck, Micrognathia, Short palm, Clinodactyly, Brac...	OMIM:217980
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis	ORPHA:98855
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skeletal maturation, Arthriti...	ORPHA:93
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Abnormal rib morphology, Hyperlordosis	ORPHA:3068
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Elbow flexion contracture, Scoli...	ORPHA:98863
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Scoliosis	ORPHA:2169
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae	OMIM:252920
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Hurler-Scheie Syndrome	Kyphosis, Contracture of the distal interphalangeal joint of the fingers, Camptodactyly of finger...	OMIM:607015
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Renpenning Syndrome	Pectus excavatum, Sprengel anomaly, Abnormal rib morphology	ORPHA:3242
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Joint dislocation, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ...	ORPHA:536532
Coffin-Lowry Syndrome	Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Kyphosis, Ab...	ORPHA:192
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short...	ORPHA:1001
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Joubert Syndrome 23	Polydactyly	OMIM:616490
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of proximal radius, Hand...	ORPHA:2886
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Knee contracture, Scoliosis, Cong...	OMIM:620351
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, ...	ORPHA:508542
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:261144
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Craniosynostosis, Tapered finger, Micrognathia, Lon...	OMIM:611174
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared...	OMIM:616300
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Megalocornea-Intellectual Disability Syndrome	Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum	ORPHA:2479
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Frank-Ter Haar Syndrome	Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Delayed crani...	OMIM:249420
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fin...	OMIM:300960
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
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis	OMIM:217100
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc...	OMIM:618493
Aspartylglucosaminuria	Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis	OMIM:208400
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, T...	OMIM:620025
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ...	OMIM:263650
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Postaxial polydac...	ORPHA:397715
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis	ORPHA:98853
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Hypophosphatasia	Abnormal rib morphology, Narrow chest	ORPHA:436
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Microgn...	ORPHA:96182
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly	OMIM:619123
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, K...	ORPHA:2658
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Abno...	ORPHA:2092
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ...	ORPHA:217346
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Finger syndactyly, Scoliosis, Genu varum	ORPHA:1969
Vacterl With Hydrocephalus	Absence of the sacrum, Hemivertebrae, Abnormal form of the vertebral bodies, Hip dislocation	ORPHA:3412
Prader-Willi Syndrome	Syndactyly, Carious teeth, Kyphosis, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot...	OMIM:176270
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Palmar pits, Kyphosis, Abnormal rib morphology, Abnormalit...	ORPHA:77301
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st...	ORPHA:476126
Cerebrocostomandibular Syndrome	Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl...	OMIM:117650
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1120
Joubert Syndrome 16	Polydactyly	OMIM:614465
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand cle...	OMIM:617822
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe syndactyly, Mic...	OMIM:614099
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology	ORPHA:2772
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe...	OMIM:609465
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy...	OMIM:269150
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:1318
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Short neck, Elbow dislocat...	ORPHA:3107
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Fg Syndrome Type 1	Finger syndactyly, Sacral dimple, Limited elbow extension and supination, Broad toe, Single trans...	ORPHA:93932
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl...	ORPHA:2754
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Prominent metopic ridge, Overlapping toe, Single transverse palmar cre...	OMIM:619148
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Aplastic clavicle, Kyphosis, Wide anterior fontanel, Coronal craniosynostosis,...	ORPHA:85199
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Joubert Syndrome 27	Polydactyly	OMIM:617120
X Small Rings	Toe syndactyly, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous...	ORPHA:96201
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Short neck, Micrognathia, Camptodactyly, Absent palmar crease	OMIM:614230
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Short neck	ORPHA:110
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Camptodactyly of finger, Spl...	ORPHA:2008
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Short neck, Micrognathia, Abnormal metacarpal morphol...	ORPHA:284160
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Cerebrofacioarticular Syndrome	Syndactyly, Micrognathia, Hypoplasia of the maxilla, Talipes equinovarus, Camptodactyly, Caudal a...	ORPHA:314679
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:617602
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Scoliosis, Radial deviation ...	OMIM:301040
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Au-Kline Syndrome	Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd...	OMIM:616580
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Emanuel Syndrome	Kyphosis, Sacral dimple, Congenital hip dislocation, Scoliosis	OMIM:609029
16Q24.3 Microdeletion Syndrome	Kyphosis, Hip dysplasia, Proximal placement of thumb, Scoliosis	ORPHA:261250
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Kyphosis, Scoliosis, Camptodactyly	ORPHA:314588
Triploidy	Finger syndactyly, Micrognathia, Short neck	ORPHA:3376
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Short neck, Micrognathia, Preaxial polydactyly, Hypoplastic p...	OMIM:617925
Noonan Syndrome 14	Short neck, Kyphosis, Cubitus valgus, Clinodactyly, Limited elbow extension	OMIM:619745
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Scoliosis	ORPHA:88644
Blepharocheilodontic Syndrome 1	Clinodactyly, Cutaneous syndactyly	OMIM:119580
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs	ORPHA:3301
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the upper limb, Scoliosis, Short ...	ORPHA:1556
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Genu recurvatum, Scoliosis	ORPHA:364028
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Joint swelling, Clinoda...	ORPHA:96123
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly	ORPHA:60040
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus...	ORPHA:261349
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Craniofacial asymmetry, Short femoral n...	ORPHA:1708
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag...	ORPHA:175
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Sacral dimple, Single transverse palmar crease, Micrognathia, Deep pal...	OMIM:247200
Mosaic Trisomy 8	Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis	ORPHA:96061
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs	ORPHA:73230
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc...	ORPHA:534
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, 2-3 toe syndactyly, Scoliosis	OMIM:616449
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of the epiglottis...	OMIM:617088
Pyknoachondrogenesis	Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont...	ORPHA:3003
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Mandibular prognathia, Broad palm	OMIM:618505
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:464
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta...	OMIM:611209
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Marshall-Smith Syndrome	Hallux valgus, Thoracic scoliosis, Wormian bones, Kyphoscoliosis, Bullet-shaped middle phalanges ...	OMIM:602535
Craniorachischisis	Bifid sternum	ORPHA:63260
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha...	OMIM:216340
Orofaciodigital Syndrome V	Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Scoliosis	OMIM:174300
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Kyphosis	OMIM:616914
Cockayne Syndrome Type 2	Kyphosis, Scoliosis	ORPHA:90322
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Kagami-Ogata Syndrome	Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs	OMIM:608149
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Scoliosis	OMIM:211530
Choanal Atresia	Chronic sinusitis, Polydactyly, Craniosynostosis	ORPHA:137914
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, Postaxial hand polydactyly, P...	OMIM:613610
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly...	ORPHA:521426
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, ...	ORPHA:2273
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Proximal femoral epiphysiolysis, Scoliosis, Hyperlordosis	OMIM:162300
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Aspergillosis	Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Hip dysplasia, Prominent coccyx...	OMIM:300966
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Popliteal Pterygium Syndrome	Fibrous syngnathia, Popliteal pterygium, Cutaneous finger syndactyly, Talipes equinovarus, Interc...	OMIM:119500
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing,...	OMIM:180849
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios...	ORPHA:93473
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Prominent crus of helix,...	OMIM:619194
Acrocallosal Syndrome	Mandibular prognathia, Finger syndactyly, Microretrognathia, Toe syndactyly, Duplication of thumb...	OMIM:200990
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Small pituita...	OMIM:619479
Mucopolysaccharidosis, Type Ii	Kyphosis, Split hand, Short neck	OMIM:309900
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Abnor...	ORPHA:3472
Loeys-Dietz Syndrome 2	Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosyno...	OMIM:610168
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Short neck, Short toe, Hip...	ORPHA:2308
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Rapp-Hodgkin Syndrome	Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Palmoplantar ...	OMIM:129400
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp...	OMIM:264090
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, Wide anterior fontanel, 2-3...	ORPHA:401973
Congenital Myopathy 22B, Severe Fetal	Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Spinal rigidity, Short neck, ...	OMIM:620369
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Myelomeningocele, S...	OMIM:306955
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Kyphosis, Scoliosis	OMIM:619718
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Long fingers, Kyphosis, Rocker bottom foot, Postaxial polydactyly	OMIM:617527
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb, D...	ORPHA:2211
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Short neck, Craniosynostosis...	OMIM:614976
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Abnormal vertebral morphology, Scoliosis	ORPHA:261197
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Preaxial h...	ORPHA:2750
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Polydactyly, Micrognathia	ORPHA:314655
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Micrognathia, Clinodactyly of the...	ORPHA:1587
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Kenny-Caffey Syndrome, Type 1	Thin clavicles, Long clavicles, Thin ribs	OMIM:244460
3Mc Syndrome 3	Clinodactyly, Radioulnar synostosis, Sacral dimple, Preaxial polydactyly	OMIM:248340
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ...	ORPHA:264200
Micro Syndrome	Kyphosis, Scoliosis	ORPHA:2510
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Syndactyly, Scapular winging, Short metacarpal, Single transverse palmar c...	OMIM:150230
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy...	ORPHA:3261
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl...	ORPHA:955
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli...	ORPHA:280
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, Acc...	OMIM:268300
Lethal Congenital Contracture Syndrome 10	Broad ribs, Thoracic scoliosis, Narrow chest, Short neck	OMIM:617022
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Overlapping fingers, Knee flexion contracture	OMIM:619708
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ...	OMIM:253200
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Khan-Khan-Katsanis Syndrome	Sacral dimple, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micrognathia, S...	OMIM:618460
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs	OMIM:614857
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Short neck, Postaxial polydactyly, Preaxial polydactyly, Short ribs	OMIM:616546
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Clinodact...	ORPHA:457284
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ...	ORPHA:3455
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Arachnodactyly, Scoliosis, Hyperlordosis	OMIM:617011
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Kyphosis, Polydactyly, Scoliosis, Acromesomelia, C...	ORPHA:464306
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly...	OMIM:620029
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Thin ribs	ORPHA:93324
Atelis Syndrome 2	Clinodactyly, Kyphosis, Sacral dimple	OMIM:620185
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:398069
Fontaine Progeroid Syndrome	Syndactyly, Craniosynostosis, Delayed skeletal maturation, Platyspondyly, Absent distal phalanges...	OMIM:612289
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Increased femoral anteversion, Scoliosis	OMIM:619005
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Natal tooth, Camptodactyly of finger, Postaxial polydactyly...	OMIM:249000
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Abnormal form of the vert...	ORPHA:2461
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Carious teeth, Supernumerary tooth, Short 2nd toe, Polydactyly, Ra...	OMIM:311200
Mgat2-Cdg	Kyphosis, Scoliosis, Brachydactyly	ORPHA:79329
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Short neck, Proximal placement of thumb,...	OMIM:261540
Classic Homocystinuria	Kyphosis, Arachnodactyly, Scoliosis, Genu valgum	ORPHA:394
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, C1-C2 vertebral abnormality...	OMIM:182212
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Broad hallux, Hyperlordosis, Tapered finger, Carious teeth, Small hand, Genu valgum, ...	OMIM:615873
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk...	ORPHA:2907
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Hip...	ORPHA:576
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sacral dimple, Single transverse palmar crease, Micrognath...	OMIM:223370
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Parotitis, Camptodactyly of finger,...	OMIM:256040
Tetrasomy 9P	Joint dislocation, Absent gallbladder, Sacral dimple, Hypoplastic scapulae, Myositis, Short neck,...	ORPHA:3310
Mucopolysaccharidosis, Type Iiid	Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, H...	OMIM:252940
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co...	ORPHA:464311
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
Craniometadiaphyseal Dysplasia	Broad ribs, Scoliosis	OMIM:269300
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Alstrom Syndrome	Kyphosis, Scoliosis	OMIM:203800
Trisomy 1Q	Short thorax, Abnormal rib morphology	ORPHA:261344
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Supernumerary to...	ORPHA:268261
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Meier-Gorlin Syndrome 1	Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus car...	OMIM:224690
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Skeletal muscle atrophy, Short femur, Unsteady gait, Flexion contracture, Ragged-r...	ORPHA:17
Antley-Bixler Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:83
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Micrognathia, Hip dysplasia, Scoliosis, Clinodactyly of the 5th...	OMIM:616975
Pallister-Hall Syndrome	Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly a...	ORPHA:672
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254519
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ...	ORPHA:79500
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ...	ORPHA:2232
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, S...	OMIM:312870
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat...	ORPHA:84
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Microgn...	OMIM:256520
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi...	ORPHA:249
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert...	ORPHA:263508
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial...	ORPHA:2753
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Pectus excavatum, Lumbar hemivertebrae, Thin ribs	ORPHA:2463
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Natal tooth, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Natal tooth, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ...	ORPHA:353277
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs	OMIM:618265
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Thin ribs	ORPHA:171430
Weill-Marchesani Syndrome 1	Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis	OMIM:277600
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Kyphosis	ORPHA:1393
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Abn...	ORPHA:2908
Bloom Syndrome	Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodactyly of the 5th fing...	OMIM:210900
Hyperparathyroidism, Transient Neonatal	Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib	OMIM:618188
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Metopic synostosis	ORPHA:457359
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Kyphoscoliosis, Kyphosis, Slender toe, Camptodactyly	ORPHA:3063
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Scoliosis, Micrognathia	OMIM:301022
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Mala...	ORPHA:69085
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Micrognathia, Postaxial hand polydactyly, Supernume...	OMIM:615948
Ellis-Van Creveld Syndrome	Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum	OMIM:225500
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing...	ORPHA:1974
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
X-Linked Hypophosphatemia	Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Vertebral hyp...	ORPHA:89936
Craniofacial Microsomia 1	Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,...	OMIM:164210
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Abnormal den...	ORPHA:744
Hallermann-Streiff Syndrome	Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased number of ste...	OMIM:234100
Wrinkly Skin Syndrome	Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphosis, Wide anterior f...	OMIM:278250
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Myotubular Myopathy With Abnormal Genital Development	Thin ribs	OMIM:300219
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Short neck	ORPHA:488434
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs	ORPHA:254528
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Pa...	ORPHA:1071
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Scoliosis	ORPHA:137605
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos...	ORPHA:363958
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Fraser Syndrome 3	Short toe, Micrognathia, Cutaneous syndactyly	OMIM:617667
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Autosomal Dominant Centronuclear Myopathy	Thin ribs	ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Nestor-Guillermo Progeria Syndrome	Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Thin ribs	OMIM:614008
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu...	OMIM:149730
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Kyphoscoliosis, Micrognathia	OMIM:618820
Congenital Disorder Of Glycosylation, Type Ia	Kyphosis	OMIM:212065
Zttk Syndrome	Craniosynostosis, Kyphosis, Hemivertebrae, Small hand, Short foot, Scoliosis	OMIM:617140
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder...	ORPHA:1521
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Marfan Syndrome	Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Kyphosis, Scol...	ORPHA:558
Congenital Sialidosis Type 2	Polydactyly	ORPHA:93400
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral ...	ORPHA:581
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis	ORPHA:171629
Degcags Syndrome	Syndactyly, Sacral dimple, Toe syndactyly, Craniosynostosis, Micrognathia, Short thumb, Preaxial ...	OMIM:619488
Coffin-Siris Syndrome 1	Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the distal ph...	OMIM:135900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs	OMIM:208500
Coffin-Siris Syndrome 12	Micrognathia, Hip subluxation, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial ...	OMIM:619325
Premature Aging Syndrome, Penttinen Type	Cervical ribs, Scoliosis, Thin ribs	OMIM:601812
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalanx of the thu...	OMIM:300967
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Rib fusion	ORPHA:544488
Cockayne Syndrome A	Hip contracture, Kyphosis, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypo...	OMIM:216400
Stuve-Wiedemann Syndrome 1	Thin ribs, Ovoid vertebral bodies, Scoliosis, Short neck	OMIM:601559
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, Co...	ORPHA:963
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, Co...	ORPHA:314769
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99413
Mosaic Monosomy X	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99226
Turner Syndrome	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:881
Xylt1-Cdg	Broad ribs, Short clavicles	ORPHA:370930
Osteopathia Striata With Cranial Sclerosis	Pectus excavatum, Straight clavicles, Scoliosis, Thoracolumbar kyphosis, Broad ribs, Spina bifida...	OMIM:300373
Monosomy 9P	Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck	ORPHA:261112
Neurofibromatosis Type 1	Kyphosis, Genu valgum, Slender long bone, Abnormal hip bone morphology, Scoliosis, Genu varum	ORPHA:636
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Supernum...	ORPHA:2136
Hartsfield Syndrome	Syndactyly, Hypoplasia of the frontal bone, Ectrodactyly, Craniosynostosis	OMIM:615465
Cockayne Syndrome B	Kyphosis, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic pelvis, H...	OMIM:133540
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Fraser Syndrome 2	Cutaneous syndactyly, Short neck	OMIM:617666
Cowden Syndrome	Kyphosis, Scoliosis, Brachydactyly	ORPHA:201
1P36 Deletion Syndrome	Camptodactyly of finger, Kyphosis, Spinal canal stenosis, Short foot, Hip dysplasia, Foot polydac...	ORPHA:1606
Rabson-Mendenhall Syndrome	Mandibular prognathia, Advanced eruption of teeth, Polydactyly	ORPHA:769
Gracile Bone Dysplasia	Thin ribs	OMIM:602361
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Down-sloping s...	OMIM:309800
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Polydactyly	OMIM:619869
Weill-Marchesani Syndrome 2	Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis	OMIM:608328
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Cl...	OMIM:181270
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Ataxia, Kyphoscoliosis, Elevated circulati...	ORPHA:79318
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Dental malocclusion, Vertebral segmentation defect, Wide pubic...	ORPHA:2052
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Pilonidal sinus, Short neck, Broad clavicles, Congenital pseudoarthrosis of ...	OMIM:276820
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinodacty...	OMIM:620330
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Metatarsus adductus, Kyphosis, Genu va...	OMIM:259050
Trisomy 18	Abnormal rib morphology	ORPHA:3380
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Hyperlordosis	OMIM:301066
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Kyphosis, Abnormal curvature of the vertebral column, Genu valgum, Scoliosis, Tapered ...	OMIM:619475
17Q11 Microdeletion Syndrome	Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Abnormality of the vertebral column, Beaking ...	ORPHA:97685
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Advanced eruption of teeth, Brachyd...	ORPHA:1519
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology, Decreased cervical spine mobility	ORPHA:95494
Williams Syndrome	Hallux valgus, Sacral dimple, Down-sloping shoulders, Hyperlordosis, Kyphosis, Abnormal form of t...	ORPHA:904
Cockayne Syndrome Type 3	Kyphosis, Scoliosis	ORPHA:90324
Eiken Syndrome	Broad ribs	OMIM:600002
Okamoto Syndrome	Prominent metopic ridge, Hip dysplasia, Polydactyly, Scoliosis	ORPHA:2729
Cockayne Syndrome	Kyphosis, Abnormal epiphysis morphology, Scoliosis	ORPHA:191
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short umbilical cord, Tapered finger	OMIM:618367
Fryns Syndrome	Broad ribs, Thin ribs, Thoracic hypoplasia, Short neck	OMIM:229850
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Abnormal clavicle morphology, Kyphoscoliosis, Short neck, Abnormal thora...	ORPHA:798
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, M...	ORPHA:261537
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Pectus excavatum, Undulate ribs, Short clavicles, Short neck	OMIM:609945
Charge Syndrome	Abnormal rib morphology, Hemivertebrae, Scoliosis	ORPHA:138
Ear-Patella-Short Stature Syndrome	Abnormal rib morphology, Aplastic clavicle	ORPHA:2554
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis	ORPHA:217085
Branchiooculofacial Syndrome	Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly...	OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, M...	ORPHA:261552
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis	ORPHA:217093
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Coccidioidomycosis	Broad ribs, Abnormality of the vertebral column	ORPHA:228123
Viss Syndrome	Long toe, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Kyphosis, Hip dislocat...	OMIM:619472
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase...	ORPHA:1662
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Mandibular progna...	ORPHA:2152
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Autosomal Recessive Malignant Osteopetrosis	Abnormal rib morphology, Narrow chest	ORPHA:667
Sotos Syndrome	Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostosis, Kyphosis, ...	ORPHA:821
Fetal Akinesia Deformation Sequence 1	Thin ribs, Thoracic hypoplasia, Short neck	OMIM:208150
Mandibuloacral Dysplasia Progeroid Syndrome	Pectus excavatum, Supernumerary ribs, Thin ribs	OMIM:619127
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion, Hemivertebrae, Cervical ribs	ORPHA:500150
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures	OMIM:612301
Otofaciocervical Syndrome	Abnormal clavicle morphology, Scapular winging, Down-sloping shoulders	ORPHA:2792
Charge Syndrome	Abnormal rib morphology, Hemivertebrae, Down-sloping shoulders, Scoliosis	OMIM:214800
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Prominent floating ribs	ORPHA:2785
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Rib fusion, Scoliosis, Bifid ribs	OMIM:607872
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Knee dislocation, Polydactyly, Broad t...	OMIM:619534
Townes-Brocks Syndrome	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:857
Alström Syndrome	Thoracic scoliosis, Kyphosis, Short toe, Lumbar scoliosis, Short finger	ORPHA:64

Histopathology

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

There is no histopathology data for Pax1

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 Pax1.

No publications found that use IMPC mice or data for Pax1.

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
Pax1^{tm176521(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pax1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pax1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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