Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox C9
Synonyms:
Hox-3.2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Hoxc9 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hoxc9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Cervical Rib
Cervical ribs OMIM:117900
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... ORPHA:93304
Parastremmatic Dwarfism
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the elbow, Abnormal rib morphology, Pectus carin... ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate short-trunk short stature,... OMIM:609223
Spondylometaphyseal Dysplasia, Corner Fracture Type
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... OMIM:184255
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Disproportionate short-trunk short stature, Hemivertebrae, Rib fu... OMIM:608681
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... ORPHA:1354
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... OMIM:122600
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Short stature, Disproportionate short-trunk short stature, Platyspondyly... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Disproportio... ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondyloepiphyseal Dysplasia, Stanescu Type
Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, In... OMIM:616583
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disproportionate short-... OMIM:259440
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ... ORPHA:1797
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... OMIM:607326
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... OMIM:259450
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals OMIM:277950
Myotonia With Skeletal Abnormalities And Mental Retardation
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Pectu... OMIM:255710
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... OMIM:113500
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs, Disproportionate short-limb short stature OMIM:273740
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... OMIM:600384
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Enlarged joints, ... OMIM:313420
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral ne... OMIM:618392
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Short stature, Pectus carinatum OMIM:620007
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint dislocation, Hi... OMIM:618395
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Abnormal fibul... ORPHA:85198
Bethlem Myopathy 2
Kyphosis, Scapular winging, Hip dislocation, Scoliosis OMIM:616471
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis ORPHA:276630
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Kyphosis, Hip dislocation, Small hand, Short foot, Scoliosis OMIM:300434
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Congenital bilateral hip dislocation ORPHA:85288
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... OMIM:612847
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ... OMIM:252605
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short stature, Abnormal rib morphology, Short neck ORPHA:2578
Becker Nevus Syndrome
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis OMIM:604919
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... ORPHA:474
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Short stature, Diaphyseal thickening ORPHA:1513
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:611225
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... ORPHA:1858
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus excavatu... ORPHA:2522
Gm1-Gangliosidosis, Type Iii
Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of lumbar ... OMIM:230650
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... ORPHA:2319
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco... OMIM:184253
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Short stature, Scoliosis, Thin ribs OMIM:615220
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short stature, Kyphosis, Limited elbow extension, Short metatarsal,... OMIM:180870
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2234
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Thoracopelvic Dysostosis
Short stature, Short ribs OMIM:187770
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis, Pectus carinatum ORPHA:1548
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly OMIM:618393
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... OMIM:301900
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Masa Syndrome
Kyphosis, Adducted thumb, Short stature, Hyperlordosis OMIM:303350
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... ORPHA:3098
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality o... ORPHA:263463
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Coxa valga, Disproportionate short... OMIM:618363
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Lethal Congenital Contracture Syndrome Type 1
Short stature, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of th... ORPHA:1486
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... OMIM:130060
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Scoliosis OMIM:616756
Three M Syndrome 1
Joint dislocation, Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebra... OMIM:273750
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Knee flexion contra... OMIM:615290
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Femoral-Facial Syndrome
Short femur, Short stature, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa... ORPHA:1988
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Dumbbell-shaped l... OMIM:269250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Rhizomelia, Dumbbell-... OMIM:151210
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, ... ORPHA:582
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... ORPHA:2311
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos... ORPHA:3082
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Narrow greater sciatic notch, Abnorm... ORPHA:93316
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pel... ORPHA:2097
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Kyphosis, Abnormal rib morphology, ... ORPHA:2050
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut... OMIM:234250
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Thoracic hypoplasia, Bowing of the legs, Hip joi... ORPHA:15
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis ORPHA:505652
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Bruck Syndrome
Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Ptery... ORPHA:2771
Achondrogenesis Type 1B
Severe short stature, Short neck, Disproportionate short stature, Abnormal rib morphology, Short ... ORPHA:93298
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth... ORPHA:2643
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Disproportionate shor... OMIM:259420
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb ORPHA:2181
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Bell-shaped thorax, Scoliosis, Clinodactyly ORPHA:178148
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:3035
Cat-Eye Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Short stature, Hip dysplasia ORPHA:195
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs... OMIM:618658
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,... ORPHA:3121
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... ORPHA:94068
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... OMIM:619698
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor... OMIM:613320
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Kyphosis, Scoliosis ORPHA:3454
Melnick-Needles Syndrome
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... ORPHA:2484
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... ORPHA:2021
Cole-Carpenter Syndrome 2
Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, Pectus excavatum, Th... OMIM:616294
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Scoliosis ORPHA:79107
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... ORPHA:93324
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... ORPHA:163966
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Abnormality of the vertebral column, Short stature, Sprengel anomaly OMIM:601076
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... ORPHA:958
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia,... OMIM:607095
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, Knee... ORPHA:75840
Three M Syndrome 2
Scapular winging, Severe short stature, Lumbar hyperlordosis, Short stature, Hyperlordosis, Short... OMIM:612921
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Cervical ribs ORPHA:77300
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... OMIM:252600
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Short stature, B... OMIM:616229
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... ORPHA:1488
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Pectus exc... ORPHA:536516
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk ... ORPHA:583
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly OMIM:300337
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Platyspondyly, Hip dysplasia, Dispr... ORPHA:2655
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Hypophosphatasia
Bowing of the long bones, Short stature, Craniosynostosis, Abnormal rib morphology, Narrow chest,... ORPHA:436
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Short neck, Short thorax, Short foot, Narrow chest,... ORPHA:93299
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis ORPHA:1875
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Split hand, Short stature, Scoliosis OMIM:618124
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Pectus carinatum ORPHA:319199
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis OMIM:300676
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... OMIM:610915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... ORPHA:2916
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Scoliosis, Intrauterine growth retardation, Abn... ORPHA:48431
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnorma... ORPHA:3409
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Delayed closure of the ... OMIM:224300
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Joint Laxity, Short Stature, And Myopia
Short stature, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum OMIM:617662
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... OMIM:602875
Kleefstra Syndrome 2
Growth delay, Kyphosis, Scoliosis OMIM:617768
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla... OMIM:244460
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Scoliosis OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scap... OMIM:200600
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Congeni... OMIM:114300
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute... ORPHA:2145
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Severe short stature, Kyphosis, Abnormality of the elbow, Hip d... ORPHA:1005
Arthrogryposis, Distal, Type 5
Arachnodactyly, Short stature, Limited wrist extension, Pectus excavatum, Kyphosis, Absent phalan... OMIM:108145
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft ve... OMIM:620076
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scolio... OMIM:181405
Ck Syndrome
Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis OMIM:300831
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Pectus carinatum OMIM:614898
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... OMIM:615761
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Osteogenesis Imperfecta, Type Xi
Short stature, Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave verte... OMIM:610968
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Spatulate ribs... OMIM:253220
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of ... ORPHA:73230
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina... OMIM:609008
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla... OMIM:613091
Gm1-Gangliosidosis, Type I
Severe short stature, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scolios... OMIM:230500
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... ORPHA:140
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... OMIM:612447
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morpho... ORPHA:3068
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Scoliosis, Flexion contracture of finger, Adducted thumb OMIM:618484
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:85317
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, De... OMIM:609128
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis OMIM:617435
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:312150
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short stature ORPHA:2772
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly ORPHA:3085
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Thanatophoric Dysplasia Type 2
Short stature, Kyphosis, Short thorax, Platyspondyly, Narrow chest, Abnormal metaphysis morpholog... ORPHA:93274
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthri... OMIM:108300
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm OMIM:300602
Mcdonough Syndrome
Pectus excavatum, Kyphosis, Short stature, Scoliosis ORPHA:2471
Cleidocranial Dysplasia
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Wormian bones, Tapered finger, Abnor... ORPHA:1452
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Wormian bones, Hype... ORPHA:1798
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Intrauterine growth retardation OMIM:618237
Sandhoff Disease
Kyphosis ORPHA:796
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, V... OMIM:617952
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Kyphosis, Small hand, Growth delay, Short foot, Scoliosis, Short palm... ORPHA:238750
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus ex... OMIM:617425
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... ORPHA:137834
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Ky... ORPHA:1860
Myopathy, Centronuclear, 2
Scapular winging, Hyperlordosis, Kyphosis, Scoliosis, Intrauterine growth retardation OMIM:255200
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Short stature, Rhizomelia, Bowing of the... OMIM:613848
Craniometadiaphyseal Dysplasia
Broad long bones, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scol... OMIM:269300
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Intrauterine growth retardation OMIM:615834
Sialidosis Type 2
Kyphosis, Short thorax, Short stature, Pectus carinatum ORPHA:87876
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch... OMIM:119600
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:253290
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... ORPHA:1834
Harrod Syndrome
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, S... ORPHA:2115
Alpha-Mannosidosis
Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplasia, Scoliosis, Hypoplastic ... ORPHA:61
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Spina bifida occulta ORPHA:2983
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... OMIM:617895
Paternal Uniparental Disomy Of Chromosome 5
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis ORPHA:96190
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Pectus... ORPHA:3219
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Baralle-Macken Syndrome
Kyphosis, Tapered finger OMIM:619255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Vertebral segmentation defect, Hip dysplasia, Pol... ORPHA:531151
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bilateral camptodactyly, Growt... OMIM:619557
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Hip dislocation, Genu val... ORPHA:171436
Xylt1-Cdg
Joint dislocation, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, S... ORPHA:370930
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
Cerebrofaciothoracic Dysplasia
Short stature, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest... ORPHA:1394
Marinesco-Sjogren Syndrome
Short metacarpal, Short stature, Coxa valga, Kyphosis, Short metatarsal, Scoliosis, Cubitus valgus OMIM:248800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis,... ORPHA:1969
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Renpenning Syndrome
Severe short stature, Abnormal thumb morphology, Pectus excavatum, Abnormal rib morphology, Growt... ORPHA:3242
Schaaf-Yang Syndrome
Short stature, Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Scoliosis, C... OMIM:615547
Wieacker-Wolff Syndrome
Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation,... OMIM:314580
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing ... OMIM:166220
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Severe short stature, Scoliosis ORPHA:2617
Subaortic Stenosis-Short Stature Syndrome
Short stature, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones ORPHA:3191
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Kyphosis, Joint contracture of the 5th finger, Scoliosis, Joint contracture of the... ORPHA:352490
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... OMIM:225500
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... OMIM:600002
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Radio-Renal Syndrome
Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ... ORPHA:3015
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Thin ribs, Slender long bone, Brachydactyly OMIM:618265
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scol... OMIM:300280
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Sjögren-Larsson Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:816
Shwachman-Diamond Syndrome 1
Short stature, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement o... OMIM:260400
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... ORPHA:175
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Microphthalmia, Lenz Type
Finger syndactyly, Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Hyperlor... ORPHA:568
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Kyphosis, Hip dislocation, Scoliosis, ... OMIM:618291
15Q24 Microdeletion Syndrome
Short stature, Proximal placement of thumb, Postnatal growth retardation, Kyphosis, Abnormal thum... ORPHA:94065
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Hip dislocation, Narrow... OMIM:301041
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Zimmermann-Laband Syndrome 2
Kyphosis, Short stature, Short neck OMIM:616455
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... OMIM:271510
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Short stature, Sandal gap, Camptodactyly of finger, Short neck, Down-sloping shou... ORPHA:85293
Pycnodysostosis
Abnormal clavicle morphology, Brachydactyly, Persistent open anterior fontanelle, Rhizomelia, Wor... ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Sialidosis Type 1
Short stature, Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, S... ORPHA:812
3C Syndrome
Finger syndactyly, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Missing rib... ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Sandal gap, Kyphosis, Small hand, Short foot, Delayed puberty, Brachydactyly OMIM:300354
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... OMIM:304150
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Mild short stature, Short 4t... OMIM:169400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pectus excavatum, Kyphosis, Sacral dimple OMIM:618272
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Atypical Rett Syndrome
Kyphosis, Small hand, Growth delay, Short foot, Scoliosis ORPHA:3095
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... ORPHA:508533
Marden-Walker Syndrome
Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Radioulnar synostosis, Abnorm... OMIM:248700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Na... ORPHA:96061
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... OMIM:603116
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Crisponi Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis ORPHA:1545
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Short stature, Fem... OMIM:610682
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... ORPHA:98855
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Broad ribs, Short long bone,... OMIM:617022
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Short stature, Irregular, rachitic-like metaphys... ORPHA:289157
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis... OMIM:253200
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:614409
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... ORPHA:98863
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Proximal placement of thumb OMIM:615433
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor... OMIM:208500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Pectus carinatum,... OMIM:618476
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cuta... OMIM:224690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi... OMIM:109400
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... ORPHA:2215
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Abnormality of ... ORPHA:93473
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... ORPHA:2752
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Craniorachischisis
Bifid sternum ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... ORPHA:98853
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Pectus carinatum ORPHA:500180
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Postnatal growth retardation, Pectus excavatum, Coat hanger sign of ri... ORPHA:254528
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Short stature, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing... OMIM:259770
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis, Increased laxi... OMIM:254090
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retard... ORPHA:263508
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Proportionate short stature, Spinal canal stenosis, Scoliosi... OMIM:277600
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Short stature, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compressi... OMIM:616507
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short f... OMIM:618443
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Cerebrocostomandibular Syndrome
Short stature, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of the 5th finger, I... ORPHA:1393
Gracile Bone Dysplasia
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly OMIM:602361
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation... ORPHA:293843
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Kbg Syndrome
Vertebral fusion, Syndactyly, Short stature, Short neck, Rib fusion, Vertebral arch anomaly, Cuta... OMIM:148050
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum ORPHA:3134
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Contracture of the distal interphalangeal joint... OMIM:607015
Cohen Syndrome
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, K... ORPHA:193
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:3042
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... ORPHA:90652
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Broad ribs, Joint swelling, Flaring of rib cage OMIM:612852
Noonan Syndrome 14
Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Cubitu... OMIM:619745
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Genitopalatocardiac Syndrome
Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, Brachydactyly ORPHA:2075
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Hip dislocation, Short neck OMIM:608776
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... OMIM:616482
Coffin-Lowry Syndrome
Short metacarpal, Brachydactyly, Short stature, Pseudoepiphyses of the metacarpals, Tapered finge... ORPHA:192
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Hurler Syndrome
Short stature, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hyp... OMIM:607014
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Kyphosis, Scoliosis OMIM:609541
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Postnatal growth retardation, Sho... OMIM:263750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, 2-3 toe syndactyly, Sco... OMIM:617061
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... ORPHA:254346
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... OMIM:312830
Occipital Horn Syndrome
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Hemivertebrae, Rib f... OMIM:206900
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3301
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... ORPHA:800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Pectus excavatum, Kyphosi... OMIM:620351
Rett Syndrome
Short foot, Kyphosis, Short stature, Scoliosis OMIM:312750
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Short stature, Delayed closure of the ... OMIM:303600
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Joint dislocation, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ... ORPHA:536532
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Kagami-Ogata Syndrome
Kyphoscoliosis, Coxa valga, Postnatal growth retardation, Short neck, Bell-shaped thorax, Coat ha... ORPHA:254519
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly ORPHA:261222
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti... ORPHA:1855
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Arachnodactyly, Sandal gap, Pectus excavatum, Kyphosis, Scoliosis, Camptodactyly, ... OMIM:617602
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retar... OMIM:617190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... OMIM:619951
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Sho... ORPHA:249
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Delayed crani... OMIM:249420
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal form of ... ORPHA:2789
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral fe... OMIM:239000
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Ver... ORPHA:96169
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi... ORPHA:3404
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus... ORPHA:261349
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Sh... OMIM:134780
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:261144
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... OMIM:616914
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hy... OMIM:618493
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Megalocornea-Intellectual Disability Syndrome
Short stature, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum ORPHA:2479
15Q14 Microdeletion Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:261190
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Kyphosis, Abnormal sternum morphology, Scoliosis, Camptodactyly... ORPHA:314588
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Gm1 Gangliosidosis
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral b... ORPHA:354
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... ORPHA:96334
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Kyphosis, Short thorax, Coron... ORPHA:85199
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Pectus excavatum, ... ORPHA:476126
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Pectus excavatum, Kyphos... OMIM:610443
Myhre Syndrome
Brachydactyly, Severe short stature, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis m... ORPHA:2588
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... ORPHA:404440
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Kyphosis, Coxa valga, Hemivertebrae... OMIM:301040
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Vater/Vacterl Association
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... OMIM:192350
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Short neck, Pectus excavatum, Kyphosis, Scoliosis, Wormian bones... OMIM:130720
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Hyperlordo... ORPHA:1328
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... ORPHA:261318
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... OMIM:269150
Pelizaeus-Merzbacher Disease
Kyphosis, Short stature, Scoliosis ORPHA:702
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Pectus excavatum, Prominent pr... OMIM:300966
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... OMIM:618223
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... ORPHA:261344
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Genu recurvatum, Short stature, Scoliosis ORPHA:364028
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone... OMIM:617088
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Short stature, Increased intervertebral space, Broad ischia, Diaphyseal dy... OMIM:619727