Not currently registered for phenotyping at IMPC

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

Gene Summary

UNC homeobox
Uncx4.1,  Chx4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Uncx 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 Uncx by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Restrictive ventilatory defect, Short neck, Verteb... OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Block ver... OMIM:277300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Respiratory failure, Flar... OMIM:156530
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... OMIM:613686
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Acrocapitofemoral Dysplasia
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Ovoid verteb... ORPHA:63446
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... ORPHA:1797
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow pelvis bone, Knee flexion contracture, Narrow chest, Scapular winging, Scoliosis, Lumbar h... OMIM:602484
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... OMIM:122600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Short ribs, Platyspondyly, Vertebral hypoplasia, Delayed ep... OMIM:602557
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Pectus excavatum, Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distr... OMIM:614399
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle clonus... OMIM:600561
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... ORPHA:93304
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee fl... OMIM:313420
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow ches... OMIM:208081
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs,... OMIM:608728
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Thoracic hypoplasia, Anterior rib cuppi... OMIM:602271
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Pectus carinatum, Capitate-hamate fusion, Short me... OMIM:271650
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Flat acetabular roof, Death in infancy, Increased intervertebral space, Resp... OMIM:256050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coronal cleft vertebrae, Irregular verteb... OMIM:618363
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Anterior rib cupping, Metaphyseal dappling, Pectus carinatum, Delayed pubic bo... OMIM:184250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... OMIM:609616
Myosclerosis, Autosomal Recessive
Facial palsy, Spinal rigidity, Reduced forced vital capacity, Thoracolumbar scoliosis, Lumbar hyp... OMIM:255600
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Pectus carinatum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovo... OMIM:184255
Thoracomelic Dysplasia
Diaphyseal thickening, Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of t... ORPHA:1803
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Platyspondyly, Short palm ORPHA:168555
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Sco... OMIM:617087
Anauxetic Dysplasia 2
Shield chest, Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubi... OMIM:617396
Nemaline Myopathy 9
Narrow chest, Scoliosis, Respiratory insufficiency OMIM:615731
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... ORPHA:93352
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Femoral-Facial Syndrome
Abnormal sacrum morphology, Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormal rib morphology, ... ORPHA:1988
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Vertebral arch anomaly, Cervical ribs, Thoracic kyp... OMIM:148050
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Respiratory insufficiency, Rib segmentation abnormalitie... ORPHA:2311
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Neonatal respiratory distress, Short ribs, Cup... ORPHA:168549
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, Hyperlordosis, Short... OMIM:300718
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Facial pa... ORPHA:2790
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Spinal rigidity, Hyperlordosis, Abnormality on pulmonary fu... ORPHA:97244
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Arthralgia of the hi... OMIM:609324
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal sacrum morpholog... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limited elbow extension, Enlarged join... ORPHA:156728
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Pectus carinatum, Irregular vertebral endplates, Kyphoscoliosis, Avascular ... OMIM:184100
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Platyspondyly,... ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Flattened femoral head, Abnormal intervertebral disk morphol... ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... OMIM:313400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Hyperlordosis, Back pain OMIM:618129
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... OMIM:146000
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Increased intervertebral space, Lumbar platyspondyly, Beaking of v... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scapular winging, Hip dysplasia, Hyperlordosis, Knee flexion contracture OMIM:615290
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... OMIM:617719
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Respiratory insufficiency, Spinal rigidity, Narrow chest, Hyperlordosis ORPHA:157973
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... OMIM:603546
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Abnormality of epiphysis morphology, Lower limb undergrowth, Hyp... ORPHA:2310
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Shield ch... ORPHA:93314
Myasthenic Syndrome, Congenital, 14
Scapular winging, Scoliosis, Hyperlordosis OMIM:616228
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspondyly, Wormian bones, Kyphosis, Be... OMIM:259440
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Coxa valga, Hypoplastic ilia OMIM:616583
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Reduced vital capacity OMIM:617760
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Pulmonary arterial hypertension, Abnormal ... OMIM:608406
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Pectus carinatum, Abnormal vertebral morphology, Beaking of vertebral bodies, Abnormality of the ... ORPHA:93359
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Wormian bones, Wide ... ORPHA:85184
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Reduced vital capacity OMIM:607088
Three M Syndrome 1
Pectus excavatum, Neonatal respiratory distress, Hypoplastic pelvis, Short thorax, Short ribs, Jo... OMIM:273750
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Respiratory insufficiency, Hyperlordosis OMIM:617404
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Enlarged joints, Coxa... OMIM:184252
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Abnormal thorax morphology, Genu valg... OMIM:265900
Myopathy, Congenital, With Tremor
Scapular winging, Spinal rigidity, Scoliosis, Lumbar hyperlordosis OMIM:618524
Crisponi/Cold-Induced Sweating Syndrome 2
2-3 toe syndactyly, Cubitus valgus, Facial palsy, Clinodactyly, Radial deviation of finger, Limit... OMIM:610313
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... OMIM:618395
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Respiratory insufficiency due to muscle weakness, Scoliosis, Hyper... OMIM:611067
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae, Abnormal rib ... ORPHA:2522
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle weak... OMIM:611890
Congenital Bowing Of Long Bones
Bowing of the long bones, Hyperlordosis ORPHA:2292
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Lumbar hyperlordosis OMIM:253320
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Femoral bowing, Aganglionic megacolon, Metaphyseal dysplasia, Metaphys... OMIM:250250
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Hyperlordosis ORPHA:62
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Myasthenic Syndrome, Congenital, 8
Narrow chest, Facial palsy, Respiratory insufficiency OMIM:615120
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Coxa valga, Cervical subluxation, Metaphyseal widening, ... OMIM:253000
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... ORPHA:239
Familial Anetoderma
Abnormality of tibia morphology, Lumbar hyperlordosis ORPHA:228277
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular distance, Bow... OMIM:100800
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Osteoarthritis, Short thorax, Platyspondyly ORPHA:93283
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Respiratory d... ORPHA:2759
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Pectus carinatum, Kyphosis, Genu valgum, Hyperlordosis, Abnormal ... OMIM:252605
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... OMIM:608940
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Congenital hip dislocation, Kyphosis, Overlappi... OMIM:618291
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Missin... ORPHA:66637
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Kyphomelic Dysplasia
Flat acetabular roof, Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abno... ORPHA:1801
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis, Respiratory insufficiency OMIM:619042
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Kyphosis, Hyperlordosis, Scoliosis, Elbow flexion contracture OMIM:600175
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Flat capital femoral epiphysis, Platyspondyly, Genu valgum OMIM:608361
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Hypoplastic scapulae, Beaking of vertebral bodies, Hypoplastic a... OMIM:607326
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Coxa valga, Cervical subluxation, Metaphyseal widening, ... OMIM:253010
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Neonatal respiratory distress, Genu varum, Short metatarsal, Short 1s... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... OMIM:617974
Dyggve-Melchior-Clausen Disease
Shield chest, Genu varum, Short metatarsal, Prominent calcaneus, Brachydactyly, Iliac crest serra... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... OMIM:602111
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Congenital finger flexion contractures, Wrist flexion contracture, Spi... ORPHA:267
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... OMIM:304950
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Abnormality of ulnar metaphysis... ORPHA:85198
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Facial palsy, Aspiration, Ankle clonus, Rib fusion, Scoliosis OMIM:614688
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Abnorma... ORPHA:2511
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture, Facial palsy, Spinal rigidity OMIM:604801
Fibrochondrogenesis 2
Thoracic hypoplasia, Metaphyseal widening, Platyspondyly, Short ribs, Bell-shaped thorax, Hypopla... OMIM:614524
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Short toe, Platyspondyly, Flared metaphysis,... OMIM:607095
Greenberg Dysplasia
Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Platyspondyly, Narro... ORPHA:1426
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Short ilia... ORPHA:93316
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hypoplastic inferior ilia, Hyperlordosis, Large iliac wing... ORPHA:577
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... OMIM:187760
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Broad femoral neck, ... OMIM:609325
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hip dysplasia, Hyperlordosis ORPHA:363454
3M Syndrome
Horizontal ribs, Hypoplastic pelvis, Thin ribs, Abnormality of the elbow, Rocker bottom foot, Sho... ORPHA:2616
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Scoliosis, Respiratory insufficiency, Hyperlord... OMIM:603034
Scapuloperoneal Spinal Muscular Atrophy
Metatarsus adductus, Stridor, Respiratory insufficiency, Facial palsy, Small hand, Clinodactyly, ... OMIM:181405
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Small epiphyses, Optic disc pallor, Anterior rib cupping, Thin ribs, Flared iliac wing, Metaphyse... OMIM:300232
Acromesomelic Dysplasia 1
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Beaking of vertebral... OMIM:602875
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... OMIM:184253
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Pectus excavatum, Hyperlordosis OMIM:611588
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Short ribs, Narrow chest, Severe platyspondyly, Disc-like vertebr... OMIM:151210
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis, Respiratory insufficiency ORPHA:640
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:582
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Brachyolmia Type 3
Proximal femoral metaphyseal irregularity, Platyspondyly, Clinodactyly, Kyphosis, Radial deviatio... OMIM:113500
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Platyspondyly, Abnormality of ... ORPHA:166272
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis OMIM:614198
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Facial palsy, Kyphosis, Hyperlordosis, Scapular... OMIM:255200
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... ORPHA:90117
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Lumbar hyperlordosis ORPHA:280333
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Abnormal clavicle morphology, Bowing of the long bones, Plat... ORPHA:93267
Odontochondrodysplasia 1
Death in infancy, Genu varum, Genu recurvatum, Short phalanx of finger, Flat acetabular roof, Sho... OMIM:184260
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Restrict... ORPHA:15
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Intervertebral space narrowing, Platyspondyly, Herniati... OMIM:601216
Myhre Syndrome
2-3 toe syndactyly, Respiratory insufficiency, Vertebral fusion, Cone-shaped epiphysis, Hypoplast... OMIM:139210
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Spondyloepiphyseal Dysplasia Congenita
Pectus carinatum, Limited elbow movement, Delayed pubic bone ossification, Platyspondyly, Atlanto... OMIM:183900
Myopathy, X-Linked, With Postural Muscle Atrophy
Respiratory insufficiency, Back pain, Spinal rigidity, Scapular winging, Short neck OMIM:300696
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Pectus carinatum, Platyspondyly, Knee flexion contr... OMIM:259450
Nemaline Myopathy 3
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial palsy, Spinal... OMIM:161800
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Flattened femoral head, Epiphyseal dysplasia, Platyspondyly, Hypoplasia of the capital femoral ep... OMIM:184000
Pelvis-Shoulder Dysplasia
Short clavicles, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Back p... OMIM:169550
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Hyperlordosis, Scoliosis OMIM:616852
Pseudodiastrophic Dysplasia
Elbow dislocation, Scoliosis, Platyspondyly, Phalangeal dislocation ORPHA:85174
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Respiratory insufficiency, Platy... OMIM:166210
Dna2-Related Mitochondrial Dna Deletion Syndrome
Exertional dyspnea, Hyperlordosis, Obstructive sleep apnea ORPHA:352470
Nemaline Myopathy 1
Facial diplegia, Pectus excavatum, Scoliosis, Respiratory insufficiency OMIM:609284
Masa Syndrome
Adducted thumb, Hyperlordosis, Kyphosis OMIM:303350
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Facial palsy, Flexion contracture OMIM:615348
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Decreased cervical spine mobility, Spinal deformities, Facial palsy, H... ORPHA:370968
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Hammertoe, Decreased distal sensor... OMIM:606071
Typical Nemaline Myopathy
Pectus excavatum, Genu varum, Respiratory insufficiency, Facial diplegia, Facial palsy, Kyphosis,... ORPHA:171436
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Abnormal respiratory system physiology, Dysplasia of the femoral head, Li... ORPHA:94068
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Optic nerve hypoplasia, Missing ribs, Verte... OMIM:206900
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Bowing of the legs, Irregular vertebral endplates, Lower limb undergrowth, Kyphoscoliosis, Platys... OMIM:612847
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Hemivertebrae, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... OMIM:271520
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis, Elbow flexion contracture ORPHA:206546
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Pectus carinatum, Short metatarsal, Metaphyseal irregul... OMIM:615222
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Pectus excavatum, Shoulder flexion contracture, Adducted thumb, Congen... ORPHA:536516
Osteogenesis Imperfecta
Neonatal respiratory distress, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles... ORPHA:666
Hyperekplexia 4
Respiratory failure, Kyphoscoliosis, Adducted thumb, Camptodactyly OMIM:618011
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Irregular epiphyses, Short finger, Metaphyseal widening, Platyspondyly, Barrel-shaped chest, Bron... OMIM:612813
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Genu varum, Irregular chondrocostal junctions, Metaphyseal dysplasia, Metaphyseal irregularity, S... OMIM:250420
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... OMIM:226980
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, Flat acetabular roof, Pectus excavatum, Neonatal respiratory distress... OMIM:618870
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Syndactyly, Dysplastic patella, Patellar aplasia, Neck pterygia, R... OMIM:265000
Congenital Muscular Dystrophy, Ullrich Type
Adducted thumb, Knee flexion contracture, Kyphosis, Slender finger, Hip dislocation, Spinal rigid... ORPHA:75840
Osteogenesis Imperfecta, Type Xxi
Pectus excavatum, Bowing of the legs, Platyspondyly, Wormian bones, Coxa vara, Barrel-shaped ches... OMIM:619131
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Epiphyseal dysplasia, Slender finger,... ORPHA:93360
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... OMIM:269250
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Irregular vertebral endplates, Tapered finger, Metaphyseal irregularity, Platysp... OMIM:601668
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Spinal rigidity, Hyperlordosis, Abnormal... OMIM:256030
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Fibrochondrogenesis 1
Broad ischia, Short ribs, Joint contracture of the hand, Camptodactyly, Short long bone, Anterior... OMIM:228520
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Platyspondyly, 11 pairs of... OMIM:300863
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multiple prenatal fractures, A... ORPHA:171433
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Gm1-Gangliosidosis, Type Ii
Coxa valga, Optic atrophy, Platyspondyly OMIM:230600
Three M Syndrome 2
Thin ribs, Pectus carinatum, Short thorax, Prominent calcaneus, Short 5th finger, Slender long bo... OMIM:612921
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... OMIM:156510
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Small hand, Platyspondyly, Short palm, Hypoplasia of the odonto... ORPHA:85172
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Flared iliac wing, Scoliosis, Anterior beaking o... OMIM:230650
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Lethal Osteosclerotic Bone Dysplasia
Short neck, Respiratory distress, Respiratory failure, Delayed cranial suture closure, Dyspnea ORPHA:1832
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis OMIM:168400
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hip dislocation, Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Short ribs, Broad hallux, Bul... OMIM:304120
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... ORPHA:166024
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Diastrophic Dysplasia
Respiratory insufficiency, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of ... ORPHA:628
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Short thorax, Sacral dimple, Vertebral segmentation defect OMIM:618845
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion... ORPHA:313892
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Three M Syndrome 3
Prominent calcaneus, Short thorax, Clinodactyly of the 5th finger, Hip dysplasia, Slender long bo... OMIM:614205
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Genu valgum, Deviation of finger, Coxa vara, Short metacar... ORPHA:2831
Brachyolmia Type 2
Platyspondyly OMIM:613678
Myasthenic Syndrome, Congenital, 19
Respiratory insufficiency, Pectus carinatum, Facial palsy, Spinal rigidity, Distal joint laxity OMIM:616720
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Neonatal respiratory distress, Genu varum, Epiphyseal dysplasia, Toe ... OMIM:615777
Myopathy, Congenital, With Fiber-Type Disproportion
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial palsy, Congen... OMIM:255310
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Respiratory insufficiency, Progressive cervical vertebral spin... OMIM:135100
Pseudodiastrophic Dysplasia
Tongue-like lumbar vertebral deformities, Phalangeal dislocation, Platyspondyly, Camptodactyly, E... OMIM:264180
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Pectus carinatum, Craniosyno... OMIM:178110
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hammertoe, Decreased nerve conduction velocity, Limited knee flexion, Scapular winging, Dyspnea, ... ORPHA:435387
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Respiratory insufficiency, Radial club hand, Abnormal verteb... OMIM:276950
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Toe cl... ORPHA:457395
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Thin ribs, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cu... ORPHA:163966
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... ORPHA:266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Facial palsy, Kyphosis, Hyperlordosis, Restrictive ventilatory defect, Scoliosis OMIM:606612
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shield chest, Cubitus valgus, Deviation of the 5th finger, Camptodactyly of finger, Narrow verteb... OMIM:143095
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Facial palsy, Abnormal rib morphology, Hyperlordosis, Clinodactyly of the 5th f... ORPHA:3068
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Facial palsy, Exertional dyspnea, Orthop... ORPHA:98913
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Genu varum, Short middle phalanx of finger, Irregu... OMIM:156500
Usmani-Riazuddin Syndrome, Autosomal Dominant
2-3 toe syndactyly, Pectus carinatum, Short finger, Thoracic kyphosis, Clinodactyly of the 5th fi... OMIM:619467
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Short thorax, Abnormality of femoral epiphysis, Hyperlordo... ORPHA:3218
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Short thumb, Broad hallux, Osteochondritis Dissecans, Osteoarthritis, Lumbar ... OMIM:165800
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormal rib morphology, Butterfly v... ORPHA:52
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... ORPHA:1149
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal form of the vertebral bodies, Hypoplasia of the radius, Short ... ORPHA:3015
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Kyphosis, Hip di... OMIM:314580
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Platyspondyly, Flattened metatarsal heads, Osteoa... OMIM:271600
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Neonatal respiratory distress, Pterygium, Popliteal pterygium, Abnormal sternum... ORPHA:2990
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... OMIM:300106
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Tachypnea, Dysplastic sacrum, Pulmonary arterial hypertension, Short ribs, W... OMIM:613320
Morquio Syndrome C
Platyspondyly OMIM:252300
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Short ribs, Platyspondyly, Flare... ORPHA:2347
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Pectus excavatum, Kyphoscoliosis, Camptodactyly of toe, Congenital h... OMIM:114300
Increased intervertebral space, Short ribs, Progressive bowing of long bones, Abnormal metaphysea... OMIM:224300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Facial palsy, Hip dislocation, Hyperlordosis, Scoliosis OMIM:613156
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis ORPHA:94095
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Enlarged epiphyses, Platyspondyly, Epiphyseal dysplasia OMIM:184840
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... ORPHA:2319
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal widening, Flared iliac wing, Hypoplas... OMIM:253200
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Delayed cranial suture ... OMIM:268310
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Facial palsy, Back pain, Scapular winging, Abnormality of pelvic girdle bone morphology, Lumbar h... OMIM:167320
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Pectus excavatum, Abnormal vertebral morphology, Kyphoscoliosis, Down-sloping shoulders, Hyperlor... OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Spinal rigidity, Lumbar hyperlordosis OMIM:609308
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Craniosynostosis, Hand polydactyly, Scoliosis, Rib fusion ORPHA:261197
Hypophosphatasia, Infantile
Short lower limbs, Death in infancy, Bowing of the legs, Apnea, Unossified vertebral bodies, Shor... OMIM:241500
Ck Syndrome
Abnormal digit morphology, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Jeune Syndrome
Toe syndactyly, Respiratory insufficiency, Cone-shaped epiphysis, Abnormal sternum morphology, Ab... ORPHA:474
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis OMIM:616471
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Jansen-De Vries Syndrome
Short foot, Small hand, Hyperlordosis, Brachydactyly OMIM:617450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Prominent interphalangeal joints, Large tarsal bones, Coronal cleft vertebrae, Beaking of vertebr... OMIM:215150
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Stillbirth, Short ribs,... OMIM:600972
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Respiratory insufficiency, Arthrogryposis multiplex congenita, Kyphosis, Bell-shaped thorax, Flex... ORPHA:178148
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Abnormal respiratory system physiology, Barrel-shaped chest, Broad thumb, Short neck, Lumbar hype... ORPHA:171866
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Lumbar hyperlordosis OMIM:613818
Pelvis-Shoulder Dysplasia
Long clavicles, Absent proximal finger flexion creases, Prominent protruding coccyx, Abnormal for... ORPHA:2839
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... OMIM:617895
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Short ribs, Absent vertebr... OMIM:200610
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abnormally ossifi... ORPHA:1427
Mucolipidosis Ii Alpha/Beta
Hypoplastic scapulae, Lower thoracic interpediculate narrowness, Short long bone, Metaphyseal wid... OMIM:252500
Osteogenesis Imperfecta, Type Xix
Biconcave vertebral bodies, Pectus excavatum, Vertebral wedging, Pectus carinatum, Scoliosis OMIM:301014
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Cervical instability, Abnormal respiratory system physiology, Laryngotracheomala... ORPHA:93346
Platyspondylic Dysplasia, Torrance Type
Genu varum, Hypoplastic scapulae, Bowing of the long bones, Short thorax, Platyspondyly, Short fo... ORPHA:85166
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Osteogenesis Imperfecta, Type Xiii
Pectus carinatum, Kyphoscoliosis, Wormian bones, Platyspondyly, Dislocated radial head, Arachnoda... OMIM:614856
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology, Respiratory insufficiency ORPHA:93941
Saul-Wilson Syndrome
Pectus excavatum, Pectus carinatum, Short metatarsal, Platyspondyly, Short metacarpal, Wide anter... OMIM:618150
Autosomal Recessive Centronuclear Myopathy
Respiratory insufficiency, Facial diplegia, Long fingers, Facial palsy, Hyperlordosis, Scapular w... ORPHA:169186
Thanatophoric Dysplasia
Abnormal ilium morphology, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Short... ORPHA:2655
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... OMIM:618167
Anauxetic Dysplasia 3
Pectus excavatum, Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Gen... OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Kyphosis, Sandal gap, Sacral dimple, Hyper... OMIM:615761
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Flexion contracture OMIM:616081
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Short ribs, Narrow chest, Respiratory failure, Thoracic dysplasia OMIM:273730
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Slender long bone ORPHA:262
Respiratory insufficiency, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short rib... ORPHA:2021
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Abnormal clavicle morphology, Aplasia/Hypoplas... ORPHA:392
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Platyspondyly, Delayed epiphyseal ossification, Wide anterior fontanel, Flared ... OMIM:601561
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Flat acetabular roof, Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foo... OMIM:258480
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormality of the elbow, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... ORPHA:163649
Spondylometaphyseal Dysplasia, Sedaghatian Type
Respiratory insufficiency, Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platy... ORPHA:93317
Myopathy, Centronuclear, 1
Facial palsy, Hyperlordosis OMIM:160150
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Bifid ribs, Block vertebrae, Missing ribs, Small hand, Optic ... ORPHA:50
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ky... OMIM:271510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Pectus excavatum, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Hip dislocation, Carpal sy... OMIM:615349
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Platyspondyly, Wide distal femoral metaphysis, Hip dysplasia, Sho... OMIM:619598
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Brachydactyly, Short toe, Anterior scalloping of vertebral bodies, Restrictive ve... OMIM:611717
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Wormian bones, Platyspondyly, Thoracic kyphosis, Femoral bowing, Broad thum... OMIM:619638
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... ORPHA:175
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased bone mineral... ORPHA:2777
Mulchandani-Bhoj-Conlin Syndrome
2-3 toe syndactyly, Scoliosis, Hyperlordosis, Clinodactyly OMIM:617352
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongated femoral neck, Hip disl... OMIM:619345
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs, Respiratory insufficiency OMIM:211120
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... OMIM:610967
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Optic atrophy, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... ORPHA:93315
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Kbg Syndrome
Vertebral fusion, Cervical ribs, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scol... ORPHA:2332
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Bifid ribs, Hemivertebrae, Block vertebrae, Missing ribs, Pro... OMIM:304050
Distal Monosomy 17Q
Optic atrophy, Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Abnormal form of the v... ORPHA:1597
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Abnormal rib ... ORPHA:2180
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Narrow iliac wing, Coronal c... OMIM:616294
Melnick-Needles Syndrome
Short clavicles, Respiratory insufficiency, Abnormality of the pubic bone, Bowing of the long bon... ORPHA:2484
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Fusion of midcervical facet joints, Cervical vertebral bodies with dec... OMIM:606842
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture OMIM:613869
Metaphyseal Acroscyphodysplasia
Genu varum, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Severe Congenital Nemaline Myopathy
Thin ribs, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multiple prenatal f... ORPHA:171430
X-Linked Emery-Dreifuss Muscular Dystrophy
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... ORPHA:98863
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal rib morphology, Slender... ORPHA:1486
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Pectus carinatum, Kyphosis OMIM:618392
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed humeral hea... OMIM:601438
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Cone-shaped epiphysis, ... ORPHA:439822
Irregularity of vertebral bodies, Butterfly vertebrae, Short long bone, Kyphoscoliosis, Pulmonary... ORPHA:263508
Ck Syndrome
Long fingers, Kyphoscoliosis, Lumbar hyperlordosis, Long toe ORPHA:251383
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Pectus carinatum, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossific... OMIM:245160
Kniest Dysplasia
Short thorax, Short long bone, Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia,... ORPHA:485
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Congenital Myasthenic Syndromes With Glycosylation Defect
Facial palsy, Knee flexion contracture, Scapular winging, Scoliosis, Lumbar hyperlordosis ORPHA:353327
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pseudoarthrosis, Pectus excavatum, Missing ribs, Short ribs, Scoliosis OMIM:618155
Bruck Syndrome
Respiratory insufficiency, Bowing of the long bones, Platyspondyly, Wormian bones, Kyphosis, Pter... ORPHA:2771
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, ... ORPHA:352447
Kniest-Like Dysplasia, Lethal
Dumbbell-shaped long bone, Coronal cleft vertebrae, Metaphyseal irregularity, Short ribs, Platysp... OMIM:245190
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis, Brachyd... OMIM:234250
Osteogenesis Imperfecta, Type X
Thin ribs, Bowing of the long bones, Chronic lung disease, Platyspondyly, Genu valgum, Vertebral ... OMIM:613848
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Barrel-shaped ch... OMIM:610915
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... ORPHA:2234
Trichorhinophalangeal Syndrome Type 1 And 3
Shortening of all phalanges of fingers, Cone-shaped epiphysis, Pectus carinatum, Short metatarsal... ORPHA:77258
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Thickened ribs, Facial diplegia, Diaphyseal sclerosis, Papilledema, Cortical scler... OMIM:122860
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Nocturnal hypoventilation, Hyperlordosis, Restrictive ventilatory def... OMIM:607155
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... OMIM:615633
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Scoliosis, Hyperlordosis, Pneumonia OMIM:253700
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Short ribs, 11 pairs of ribs, Abnormal ossification involvi... OMIM:215140
Stickler Syndrome, Type I
Morbus Scheuermann, Pectus excavatum, Beaking of vertebral bodies, Platyspondyly, Arachnodactyly,... OMIM:108300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Osteoarthritis, Abnormal intervertebral disk morphology, Pulmonary embolism ORPHA:1345
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Emery-Dreifuss Muscular Dystrophy
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... ORPHA:98853
Schwartz-Jampel Syndrome, Type 1
Anterior bowing of long bones, Shoulder flexion contracture, Coronal cleft vertebrae, Pectus cari... OMIM:255800
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Intercostal muscle weakness, Neonatal respiratory distress, Recur... ORPHA:70
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... OMIM:218600
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Asymmetry of the thorax, Facial palsy, Abnormality of the metaphysis, Coarse me... ORPHA:2780
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, 2-3 toe syndactyly, Radial bowing, Vertebral wedging, Postaxial polydactyly,... OMIM:617866
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... OMIM:312150
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Respiratory failure, Scoliosis OMIM:310200
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Joint hypermobility, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of finger, Abnormal h... ORPHA:1323
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Pectus carinatum, Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Irregular f... OMIM:255710
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Spinal canal stenosis, Epiphyseal stippling, Short metatarsal, Dislocated radial h... OMIM:101800
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Short 5th finger, Thoracic kyphosis, Hyperlordosis, Scoliosis, Hypoplasia ... ORPHA:557003
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Metatarsus adductus, 2-3 toe syndactyly, Lumbar kyphosis in infancy, 4-5 toe syndactyly, Hyperext... ORPHA:3041
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... ORPHA:79345
Geroderma Osteodysplastica
Biconcave vertebral bodies, Pectus carinatum, Beaking of vertebral bodies, Abnormality of epiphys... ORPHA:2078
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Femoral-Facial Syndrome
Toe syndactyly, Hemivertebrae, Short humerus, Dysplastic sacrum, Hypoplastic acetabulae, Short fi... OMIM:134780
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Short thorax, Platyspondyly, Abnormality of the metaphysis, Kyphosis, ... ORPHA:93274
Czech Dysplasia
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... OMIM:609162
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Short ribs, Stillbirth, Hypop... OMIM:200600
Dysostosis, Stanescu Type
Pectus excavatum, Abnormality of epiphysis morphology, Bowing of the long bones, Wormian bones, A... ORPHA:1798
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Scoliosis, Hyperlordosis ORPHA:1387
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th finger, Spi... ORPHA:2475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Pectus excavatum, Back pain, Kyphosis, Sprengel anomaly, Spinal rigidity, Hyperlordosis, Scapular... ORPHA:98855
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Bifid ribs, Hemivertebrae, Beaking of vertebral bodies, Craniosynostosis, Sacral dimple, Narrow c... OMIM:213980
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Cap Myopathy
Pectus excavatum, Facial palsy, Central hypoventilation, Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Short hu... OMIM:610319
Cooper-Jabs Syndrome
Respiratory insufficiency, Missing ribs, Proximal placement of thumb, Abnormal rib morphology, Ca... ORPHA:1488
Bruck Syndrome 2
Pectus carinatum, Wormian bones, Knee flexion contracture, Platyspondyly, Pterygium, Femoral bowi... OMIM:609220
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... OMIM:253290
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Limited elbow extension, Block v... OMIM:272460
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Abnormality of the metaphysis, Platyspondyly, Fla... ORPHA:157965
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperlordosis, Brachydactyly, Kyphosis ORPHA:3085
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Increased intervertebral space, Short iliac bones, Pneumonia, Irregular ve... OMIM:607944
Cervical platyspondyly, Shield chest, Barrel-shaped chest, Anterior beaking of thoracic vertebrae... OMIM:230000
Myopathy, Myofibrillar, 6
Respiratory insufficiency, Facial palsy, Knee flexion contracture, Spinal rigidity, Reduced force... OMIM:612954
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Respiratory insufficiency... ORPHA:1145
Cantu Syndrome
Metaphyseal widening, Broad first metatarsal, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoi... OMIM:239850
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Cranial nerve compression, Abnormality of long bone morpholo... ORPHA:52430
Satoyoshi Syndrome
Genu varum, Abnormality of femur morphology, Abnormal joint morphology, Abnormality of the knee, ... ORPHA:3130
Atelosteogenesis, Type I
Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Short f... OMIM:108720
Microphthalmia, Lenz Type
Long thorax, Abnormal clavicle morphology, Optic disc coloboma, Kyphosis, Finger syndactyly, Comp... ORPHA:568
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Death in infancy, Finger syndactyly, Camptodactyly of finger, Vertebral seg... ORPHA:1507
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Spinal rigidity, Dyspnea, Scoliosis, Lumbar hyperlordosis ORPHA:86812
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Scoliosis, Kyphosis ORPHA:101075
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Scoliosis, Pectus carinatum, Kyphosis ORPHA:276630
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Platysp... ORPHA:250984
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long clavicles, Shoulder flexion contracture, Bowed humerus, Stillbirth, Platyspondyly, Knee flex... OMIM:210710
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Pectus carinatum, Kyphosis, Delayed skeletal maturation, Joint stiffness, Scoliosis ORPHA:1548
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Facial palsy, Spinal rigidity, Thoracic kyphosis, Scoliosis, Lumbar... OMIM:617114
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones, Metaphyseal irregula... ORPHA:319195
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Abnormality of the elbow, K... ORPHA:263463
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly, Pectus carinatum, Abnormalit... ORPHA:3082
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Triphalangeal thumb, Respiratory insufficiency, Proximal placement of thumb, Ab... ORPHA:1120
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Thin ribs, Phocomelia, Pneumothorax, Neonatal death, Aplasia of the ulna, Short ... OMIM:266910
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Bow... ORPHA:1860
Kniest Dysplasia
Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Platyspondyly, Delaye... OMIM:156550
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Scoliosis, Lumbar hyperlordosis ORPHA:353
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Respiratory failure, Abnormal pelvis bone morp... ORPHA:1505
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Thin ribs, Pulmonary arterial hyper... OMIM:259420
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Optic atrophy, Short hallux, Abnormal vertebral morphology, ... ORPHA:280
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered finger, Tapered toe, Sacral dimple, Asthma, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Wide anterior fontanel, Hypoplast... OMIM:113000
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal thorax morphology ORPHA:1445
Pallister-Hall Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Hemivertebrae, Mesoaxial hand polydactyly, Oligodacty... OMIM:146510
Nail-Patella Syndrome
Pectus excavatum, Patellar aplasia, Hypoplastic radial head, Hypoplasia of first ribs, Iliac horn... OMIM:161200
Lethal Congenital Contracture Syndrome 5
Death in infancy, Thin ribs, Respiratory insufficiency, Decreased nerve conduction velocity, Flex... OMIM:615368
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Adducted thumb, Decreased fibular diameter, Multiple rib fractures, Short ri... OMIM:616897
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebra... ORPHA:1517
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Flat capital femoral epiphysis, Pectus... OMIM:190350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Pectus excavatum, Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Epiphyseal dysplas... OMIM:617425
Spondylolysis, Stridor, Obstructive sleep apnea, Hypoplastic iliac wing, Short finger, Abnormal c... ORPHA:763
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Chronic pulmonary obstruction, Limitation of movement at ankles, Facial palsy, Hyperlordosis, Lim... ORPHA:437572
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Arthrogryposis multiplex congenita, Respiratory insufficiency OMIM:615330
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Irregular vertebral endplates, Tapered finger, Kyphoscoliosis, Jo... OMIM:612350
Bethlem Myopathy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Reduced maximal expirator... ORPHA:610
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... OMIM:250220
Langer Mesomelic Dysplasia
Radial bowing, Broad ulna, Hypoplasia of the radius, Hypoplasia of the ulna, Rudimentary fibula, ... OMIM:249700
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Limited elbow exte... ORPHA:93320
King-Denborough Syndrome
Kyphoscoliosis, Thoracic kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis OMIM:619542
Myotonia Permanens
Dyspnea, Hyperlordosis, Asthma ORPHA:99735
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis ORPHA:369840
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Metaphyseal dysplasia, Flattened moderately deformed vertebrae, Spinal steno... OMIM:157151
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Platyspondyly, Kyphosis, Wide anterior fontanel, ... OMIM:616482
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Respiratory insufficiency, Aplasia/Hypoplasia of the phalanges of the hallux, Abno... ORPHA:337
Kyphomelic Dysplasia
Thoracic hypoplasia, Flat acetabular roof, Anterior rib cupping, Tibial bowing, Lateral clavicle ... OMIM:211350
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Protrusio acetabuli, Abnormally ossified vertebrae, Shoulder flexion con... ORPHA:800
Achondrogenesis Type 1B
Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Short neck ORPHA:93298
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Wormian bones, Kyphosis, Hip dislocation, Joint subluxation, Hyperlordosis, Scolio... OMIM:617821
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Biconcave flattened vertebrae, Wormian bones, Abnormal joint morphology OMIM:166230
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Decreased nerve conduction velocity, Kyphosis ORPHA:101078
Arthrogryposis, Distal, Type 5D
Adducted thumb, Calcaneovalgus deformity, Hip dislocation, Hyperlordosis, Camptodactyly, Short ne... OMIM:615065
Atelosteogenesis Type I
Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Join... ORPHA:1190
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Stridor, Partial fusion of c... OMIM:305620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Respiratory failure, Scoliosis, Kyphosis ORPHA:79327
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hallux valgus, Pectus excavatum, Reduced forced expiratory volume in one... OMIM:613385
Mucopolysaccharidosis, Type Vii
Loud snoring, Metatarsus adductus, Obstructive sleep apnea, Pectus carinatum, Anterior beaking of... OMIM:253220
Nail-Patella Syndrome
Abnormality of the knee, Cubitus valgus, Contracture of the distal interphalangeal joint of the f... ORPHA:2614
Phaver Syndrome
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Ulnar deviation of finger, Abnorm... ORPHA:2876
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Respiratory insufficiency, Abnormality of... ORPHA:1842
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Respiratory failure OMIM:610127
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Spinal canal stenosis, Abnormal vertebral morphology, Tapered finger, Metaphyseal irregularity, C... OMIM:616007
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Pectus excavatum, Vertebral fusion, Hemivertebrae, Pect... OMIM:263540
Cohen Syndrome
Optic atrophy, Tapered finger, Short metatarsal, Cubitus valgus, Genu valgum, Short metacarpal, T... OMIM:216550
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of the hand, Platyspondyly, Short p... OMIM:618958
Cole-Carpenter Syndrome
Bowing of the long bones, Abnormal form of the vertebral bodies, Wormian bones, Abnormality of th... ORPHA:2050