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Gene: Uncx MGI:108013

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UNC homeobox
Synonyms:
Uncx4.1,  Chx4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Restrictive ventilatory defect, Verteb... OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Knee flexion contracture, Narrow pelvis ... OMIM:602484
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... OMIM:600561
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Optic atrop... OMIM:602271
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o... OMIM:618167
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased inte... OMIM:256050
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, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigidity, Reduced forced vita... OMIM:255600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... OMIM:300717
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... ORPHA:1988
Rigid Spine Syndrome
Hip contracture, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function tes... ORPHA:97244
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... ORPHA:1354
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... OMIM:146000
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... OMIM:614399
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Knee flexion contra... OMIM:615290
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limited elbow extens... ORPHA:156728
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... ORPHA:429
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis OMIM:619042
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Achondroplasia
Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident h... OMIM:100800
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Spinal rigidity, Hyperlordosis, Respiratory insufficiency, Narrow chest ORPHA:157973
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... OMIM:300718
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimall... ORPHA:66637
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... ORPHA:2310
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Reduced vital capacity, Hyperlordosis OMIM:607088
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Neonatal respiratory distress, Increased intervertebral spa... OMIM:618961
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Vertebral arch anomaly, Abno... ORPHA:85184
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Short thorax, Advanced ossification o... OMIM:618363
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Three M Syndrome 1
Joint dislocation, Scapular winging, Neonatal respiratory distress, Hyperlordosis, Short neck, In... OMIM:273750
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis OMIM:617404
Nemaline Myopathy 5C, Autosomal Dominant
Scapular winging, Hyperlordosis, Respiratory insufficiency, Pectus carinatum, Scoliosis OMIM:620389
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Respiratory insufficiency due to muscle weakness, Joint contracture of the hand, Scoliosis, Hyper... OMIM:611067
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu... OMIM:252605
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... OMIM:610313
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration OMIM:614688
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Facia... OMIM:611890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... ORPHA:2759
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... OMIM:615222
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Hyperlordosis ORPHA:62
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Familial Anetoderma
Abnormal tibia morphology, Lumbar hyperlordosis ORPHA:228277
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hy... OMIM:250250
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Short distal... OMIM:620073
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal thumb morphology, Abnormality of the wri... ORPHA:2511
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Hypoplastic i... ORPHA:577
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hip dysplasia, Hyperlordosis ORPHA:363454
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Elbow flexion contra... ORPHA:267
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Facial palsy, Respiratory failure, Spinal rigidity OMIM:604801
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Short thorax, Abnormal epiphysis morphology ORPHA:93283
Pyle Disease
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Genu valgum, Platyspondy... OMIM:265900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... OMIM:602111
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Facial palsy, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Respira... OMIM:181405
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Pectus... OMIM:619451
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... ORPHA:2616
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Acromesomelic Dysplasia 1
Short metacarpal, Lumbar hyperlordosis, Radial bowing, Ovoid vertebral bodies, Broad metatarsal, ... OMIM:602875
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... OMIM:609325
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... ORPHA:582
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... ORPHA:85198
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Respiratory insuffi... OMIM:139210
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... OMIM:607326
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... OMIM:187600
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il... OMIM:169550
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Optic atrophy, Sco... OMIM:617087
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Masa Syndrome
Kyphosis, Adducted thumb, Hyperlordosis OMIM:303350
Nemaline Myopathy 7
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency due to muscle we... OMIM:610687
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, R... OMIM:161800
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, Knee... ORPHA:75840
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... OMIM:255200
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture, Facial palsy OMIM:615348
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Facial palsy, Hip dislocation, Respiratory insufficiency, Respira... ORPHA:370968
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... OMIM:603034
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Scapular winging, Neonatal respiratory distress, Monkey wrench femoral neck, H... OMIM:618870
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... OMIM:183900
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Hip disloca... ORPHA:171436
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... ORPHA:313892
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... OMIM:184260
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Hyperekplexia 4
Respiratory failure, Adducted thumb, Kyphoscoliosis, Camptodactyly OMIM:618011
Achondroplasia
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Scoliosis, Hyperlordosis OMIM:616852
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses,... OMIM:612813
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Tapered ... ORPHA:536516
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... ORPHA:94068
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Dna2-Related Mitochondrial Dna Deletion Syndrome
Exertional dyspnea, Hyperlordosis ORPHA:352470
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bones, Rib fusi... OMIM:611209
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Lumbar hyperlordosis, Kyphoscoliosis, Flat capital femoral epiphysis, Metaphyseal ... OMIM:271510
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis ORPHA:206546
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Vertebral segmentation defect OMIM:618845
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Lumbar hyperlordosis OMIM:617054
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous syndactyly, Genu va... ORPHA:166024
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Hyperlordosis OMIM:618129
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis OMIM:616756
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin... OMIM:619467
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormal epiphysis m... ORPHA:970
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th... OMIM:276950
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Reduced forced vital capacity, Re... OMIM:255310
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum... OMIM:612921
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-sh... OMIM:166210
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Arthrogryp... OMIM:618393
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Delayed cranial suture closure ORPHA:1832
Anauxetic Dysplasia 1
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic ilia, Short t... OMIM:607095
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Intermediate Nemaline Myopathy
Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Facia... ORPHA:171433
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Pec... ORPHA:2990
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis OMIM:614198
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... ORPHA:266
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
Three M Syndrome 3
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... OMIM:614205
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Scapular winging, Lumbar hyperlordosis, Limited knee flexion, Dyspnea, Decreased nerve conduction... ORPHA:435387
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epip... OMIM:613320
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... OMIM:619131
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ... ORPHA:3218
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Scapular winging, Scoliosis, Hyperlordosis OMIM:616228
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Down-sloping shoulders, Stridor, Hammertoe, Resp... OMIM:606071
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Facial palsy, Abnormal pelvic girdle bone morp... OMIM:167320
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Os... OMIM:165800
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Hyperlordosis, Coxa vara, Abnormal form of the vertebral bodies,... ORPHA:2831
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Facial palsy, Restrictive ventilatory... ORPHA:98913
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... OMIM:618323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contr... OMIM:606612
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphol... ORPHA:3068
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:3015
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
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
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hyperlordosis, S... OMIM:314580
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Nemaline Myopathy 2
Apnea, Spinal rigidity, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Abnormal... OMIM:256030
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Respiratory insufficiency, Scoliosis, Hyperlordosis OMIM:620285
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Ck Syndrome
Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis OMIM:300831
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig... OMIM:616817
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Joint contracture, Scoliosis OMIM:611225
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Myopathy, Distal, 1
Lumbar hyperlordosis, Facial palsy, Scoliosis OMIM:160500
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Ankle flexion contracture, Reduced vital capacity, Scoliosis, Hyperlordosis OMIM:617760
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Hip dislocation, Respiratory insufficiency, Scoliosis OMIM:613156
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Respiratory insuffi... ORPHA:169186
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... OMIM:255800
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... OMIM:114300
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... ORPHA:2839
Brachyolmia Type 2
Platyspondyly OMIM:613678
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy ORPHA:1513
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... OMIM:615761
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Congenital hip dislocation, Femur fracture, Respiratory insufficien... OMIM:618291
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... OMIM:615155
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel... ORPHA:178148
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Optic atrophy, Diap... OMIM:122860
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ... ORPHA:337
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Abnormal respiratory system physiology, Br... ORPHA:171866
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ho... OMIM:617895
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... OMIM:206900
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Small hand, Optic atrophy, Hip dy... ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Pectus excavatum, Hyperlordosis OMIM:611588
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Short neck, Pe... OMIM:156550
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Morquio Syndrome C
Platyspondyly OMIM:252300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Premature osteoa... OMIM:215150
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Metaphy... OMIM:618853
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Ankle flexion contracture OMIM:613818
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A... OMIM:224300
Mulchandani-Bhoj-Conlin Syndrome
Clinodactyly, 2-3 toe syndactyly, Scoliosis, Hyperlordosis OMIM:617352
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... OMIM:213980
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Vertebral clefting, Platyspondyly,... OMIM:241500
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Hemi... OMIM:304050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Femo... OMIM:616482
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Coxa valga, Wide anterior fontanel, Abnormality of the elbow,... ORPHA:163649
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Flared metaphysis, Hypoplastic pubic bone, Abnormal respiratory sy... ORPHA:93346
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... ORPHA:263508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Dyspnea, Exertional dyspnea, Hyperlordosis OMIM:615156
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long... OMIM:613848
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... ORPHA:98863
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Severe Congenital Nemaline Myopathy
Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ... ORPHA:171430
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Knee flexion contracture, Scoliosis ORPHA:353327
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, Broad thum... OMIM:619638
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Ck Syndrome
Long toe, Long fingers, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... OMIM:610967
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Hypopla... ORPHA:85166
Myopathy, Centronuclear, 1
Facial palsy, Hyperlordosis OMIM:160150
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Central hypoventilation, Pectus excavatum ORPHA:171881
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... ORPHA:93316
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Respiratory insufficiency, Platyspo... ORPHA:2655
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Short palm, Hypoplastic iliac wing, Short phalanx of... OMIM:611717
Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Respirat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Respirat... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Achondrogenesis, Type Ib
Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Absent or mini... OMIM:600972
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad hallux, Short toe, Caudal interpedicular narrowing, Short metatarsal, Upp... ORPHA:439822
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Platy... OMIM:619598
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoi... OMIM:252500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory... OMIM:607155
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Neonatal respi... OMIM:602471
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Hyperlordosis, High iliac wing, Asymmetry of the thorax, Scoliosis, Large iliac win... ORPHA:2780
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Hyperlordosis, Pect... ORPHA:1798
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... ORPHA:3130
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Scoliosis, Hyperlordosis ORPHA:1387
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scolios... ORPHA:1323
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough ORPHA:86812
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hyperlordosis, Thoracic kyphosis, Short 5th finger, Scoliosis, Hypoplasia ... ORPHA:557003
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... ORPHA:98855
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ... OMIM:616229
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... ORPHA:79345
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... ORPHA:1488
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal st... OMIM:101800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Kyphosis, Scoliosis, Pectus carinatum ORPHA:276630
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi... ORPHA:1145
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... ORPHA:1120
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Bruck Syndrome
Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Wormian ... ORPHA:2771
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Kyphosis, Scoliosis ORPHA:101075
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Brachydactyly, Hyperlordosis ORPHA:3085
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Wide anterior fontanel, Death in infancy OMIM:618240
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Delayed skeletal maturation, Pectus carinatum, Scoliosis ORPHA:1548
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis... ORPHA:568
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow,... ORPHA:263463
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... ORPHA:352447
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... OMIM:271665
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Kyphoscoliosis, Cox... OMIM:617425
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... OMIM:616294
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Cranial nerve compression, Abnormal long bone morphology, Abnormality of the verte... ORPHA:52430
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Shoulder flexion contracture, Facial palsy, Spinal rigidity, Elbow flexion ... OMIM:617114
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Shor... OMIM:607944
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Ulnar bowing, Preaxial po... OMIM:617866
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Geroderma Osteodysplastica
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:2078
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Tibial bowing, Slender long bon... OMIM:259420
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Hy... OMIM:161200
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Flexion contracture, Optic atrophy OMIM:618237
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Scoliosis ORPHA:353
Alg1-Cdg
Kyphosis, Respiratory failure, Scoliosis ORPHA:79327
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Knee flexion co... OMIM:310200
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis OMIM:619542
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Pulmonary embolism ORPHA:1345
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Brachydactyly, Congenital hip dislocation, Hyperlordosis, Tapered finger, Hypoplasia of the odont... OMIM:616007
Thanatophoric Dysplasia Type 2
Kyphosis, Short thorax, Respiratory insufficiency, Platyspondyly, Narrow chest, Abnormal metaphys... ORPHA:93274
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity OMIM:620326
Congenital Myopathy 10B, Mild Variant
Hyperlordosis, Reduced forced vital capacity, Knee contracture, Recurrent pneumonia, Respiratory ... OMIM:620249
Bruck Syndrome 2
Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carinatum, Platyspond... OMIM:609220
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Pectus carinatum OMIM:620007
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Lumbar hyperlordosis, Limited elbow extension, Scoliosis OMIM:619719
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... OMIM:277950
Trichorhinophalangeal Syndrome, Type I
Scapular winging, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling... OMIM:190350
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Kyphosis, Scoliosis ORPHA:101078
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Wi... ORPHA:1860
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,... OMIM:239850
Schwartz-Jampel Syndrome
Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Abno... ORPHA:800
Bethlem Myopathy
Hypoventilation, Scapular winging, Lumbar hyperlordosis, Reduced maximal expiratory pressure, Int... ORPHA:610
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d... OMIM:249700
Myotonia Permanens
Dyspnea, Asthma, Hyperlordosis ORPHA:99735
Pycnodysostosis
Abnormal clavicle morphology, Brachydactyly, Persistent open anterior fontanelle, Wormian bones, ... ORPHA:763
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Optic atrophy, Scoliosis, Tapered finger OMIM:616505
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Abnormal epiphys... ORPHA:250984
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... ORPHA:2050
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decreased fibular... OMIM:616897
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hyperflexibility, Pectus carinatum ORPHA:319199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Scoliosis, Hyperlordosis OMIM:253700
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones... ORPHA:319195
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... ORPHA:710
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthri... OMIM:108300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Knee flexio... ORPHA:2614
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Reduced forced expiratory volume in... OMIM:613385
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Pectus carinat... OMIM:614856
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis ORPHA:530983
Lethal Congenital Contracture Syndrome 5
Death in infancy, Decreased nerve conduction velocity, Flexion contracture, Respiratory insuffici... OMIM:615368
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:3035
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... OMIM:618186
Jansen-De Vries Syndrome
Short foot, Brachydactyly, Small hand, Hyperlordosis OMIM:617450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Hypoplastic ili... OMIM:615349
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal form of ... ORPHA:2789
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... OMIM:612350
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Congenital laryngeal stridor ORPHA:2254
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Verheij Syndrome
Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio... OMIM:615583
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Tapered finger, Short metatarsal, Opt... OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Knee flexion c... OMIM:210710
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic sacrum, Hypoplastic scap... OMIM:200600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Atelosteogenesis Type I
Joint dislocation, Short femur, Abnormal ossification involving the femoral head and neck, Abnorm... ORPHA:1190
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Limited knee flexi... OMIM:615065
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck ORPHA:3456
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Pectus excavatum,... ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Arachnodactyly, Hyperlordosis, Pectus carinatum, Scoliosis, Prominent fingertip pads OMIM:300986
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Scapular winging, Hyperlordosis OMIM:600462
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Respiratory failure... OMIM:620278
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Ank... ORPHA:2020
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad... ORPHA:583
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Pectus excavatum, Metatarsus adductus... OMIM:212720
Fucosidosis
Cervical platyspondyly, Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa v... OMIM:230000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... ORPHA:508533
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Delayed closure of th... OMIM:619797
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Noctu... OMIM:603689
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Scapular winging, Limited elbow movement, Spinal rigidity, Hyperlordosis, Limited knee flexion/ex... ORPHA:268
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... ORPHA:2848
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy... OMIM:601152
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Emphysema, Abnormal rib morphology, Respiratory insuf... ORPHA:436
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:128100
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Facial palsy, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Ky... OMIM:254090
Dysosteosclerosis
Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, Irregular vertebr... ORPHA:1782
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... ORPHA:97360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... OMIM:618958
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Kyphosis, Optic atrophy, Scoliosis ORPHA:99014
Zttk Syndrome
Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Optic atrophy, Short foot, Cer... OMIM:617140
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardiorespiratory arrest, Restr... ORPHA:26791
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
Sialidosis Type 2
Kyphosis, Dyspnea, Short thorax, Flexion contracture, Osteoporosis, Pectus carinatum ORPHA:87876
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility, Pectus carinatum OMIM:614898
Hallermann-Streiff Syndrome
Tracheomalacia, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Recurrent pneumonia, Optic... OMIM:234100
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic atrophy, Abnormal form of the vertebral b... ORPHA:354
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib morphology, Br... ORPHA:1163
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Multiple joint dislocation, Anterior atlanto-occipita... ORPHA:536467
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Cervical ribs ORPHA:77300
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Optic atrophy, Diaphyseal sclerosis, Pe... OMIM:618476
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Sinusitis, Tapered finger, Abnormal ... ORPHA:1452
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis OMIM:300676
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... OMIM:109400
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... ORPHA:915
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swel... OMIM:612852
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis OMIM:610743
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Thoracic kyphos... OMIM:242900
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Rocker bottom foot, Short neck, Respiratory failure, Camptodactyly, Clin... OMIM:618804
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Ins... OMIM:604320
Gm1-Gangliosidosis, Type Ii
Coxa valga, Optic atrophy, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar ... OMIM:230600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hip dislocation, Scoliosis OMIM:300434
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Scoliosis ORPHA:254854
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... ORPHA:1318
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... OMIM:618443
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... OMIM:277600
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Pneumonia, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... ORPHA:98905
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, V... OMIM:617952
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Braddock-Carey Syndrome 1
Clinodactyly, Small hand, Camptodactyly, Hyperlordosis OMIM:619980
Distal Deletion 10Q
Scapular winging, Lumbar hyperlordosis, Sandal gap, Prominent metopic ridge, Craniosynostosis, Ta... ORPHA:96148
Leigh Syndrome
Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Lumbar hyperlordosis, Congenital hip dislocation, Toe syndactyly, Sandal gap, S... OMIM:609625
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis, Proximal femoral epi... OMIM:162300
Lowry-Wood Syndrome
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ... ORPHA:1824
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Pectus excavatum, Flexion contracture, Respiratory failure, Prominent sternum, Coat... ORPHA:254528
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Kyphosis,... OMIM:211530
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Respiratory ins... OMIM:615084
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Flared iliac wing,... ORPHA:79255
Arthrogryposis, Distal, Type 5
Limited wrist extension, Reduced forced expiratory volume in one second, Pectus excavatum, Kyphos... OMIM:108145
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hyper... ORPHA:258
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine, Ab... ORPHA:48431
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Pelvic bone exostose... OMIM:304150
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ... OMIM:230500
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphysis, Genu val... OMIM:269300
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... OMIM:260400
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination of forearm, Radiou... ORPHA:293843
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Genu recurvatum, Apnea, Flexion contracture, Optic atrophy, Hip di... OMIM:617301
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... OMIM:150250
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal ... ORPHA:83617
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... OMIM:142900
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal respiratory system physiology, Scoliosis ORPHA:505652
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Crisponi Syndrome
Death in infancy, Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contra... ORPHA:1545
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Restrictive ventilatory defect, Hyperlordosis ORPHA:369840
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... ORPHA:1439
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Optic atr... ORPHA:1606
Sclerosteosis 1
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly... OMIM:269500
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... ORPHA:93473
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Sagit... ORPHA:500150
Sialidosis Type 1
Decreased nerve conduction velocity, Kyphosis, Delayed skeletal maturation, Short thorax, Abnorma... ORPHA:812
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Ollier Disease
Platyspondyly, Abnormal metaphysis morphology ORPHA:296
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure ORPHA:168486
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnor... ORPHA:3404
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... ORPHA:98755
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Shor... OMIM:601559
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis OMIM:615980
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Joint hyperflexibility ORPHA:1875
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Optic atrophy, Abnormal pelvic gir... ORPHA:3378
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly OMIM:619185
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal v... ORPHA:536471
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Shoulder dislocation, Scoliosis, Joint hyperflexibility ORPHA:2181
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Flexion contracture, Restrictive ventilatory defect, Scoliosis, Arthrog... OMIM:618484
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Facial pal... ORPHA:1328
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Abnormal rib morphology, Opti... ORPHA:3301
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad lon... OMIM:301066
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Short thorax, Flared metaphysis, P... ORPHA:50945
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Death in infancy, Protrusio ac... OMIM:610682
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arthrogryposis multiplex cong... OMIM:617143
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... OMIM:245600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis, Elbow flexion contracture OMIM:618138
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... OMIM:231070
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Broad ischia, Optic atro... OMIM:619727
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Narrow chest, Respiratory failure ORPHA:1861
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphysis morphology, Brachyda... ORPHA:2107
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Ankle clonus, Scoliosis OMIM:609541
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fon... OMIM:607872
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta ORPHA:2983
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pectus excavatum, Kyphosis, Sacral dimple, Wide anterior fontanel OMIM:618272
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Elbow flexion co... OMIM:608328
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Mcdonough Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:2471
Ruvalcaba Syndrome
Kyphosis, Limited elbow extension, Narrow chest, Scoliosis OMIM:180870
Joubert Syndrome 21
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Bell-shaped thorax, Respiratory failure, Short ribs... OMIM:615636
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis OMIM:182210
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma... ORPHA:1830
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Optic nerve hypoplasia, Hyperlordosis, Clinodactyly of the 2nd fin... ORPHA:221139
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi... ORPHA:449280
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... OMIM:224690
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures ORPHA:3454
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... ORPHA:3144
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome OMIM:141300
Sandhoff Disease
Kyphosis ORPHA:796
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Optic atrophy, Pectu... ORPHA:505248
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Limitation of joint mobili... ORPHA:3098
Arnold-Chiari Malformation Type I
Stiff neck, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t... ORPHA:268882
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... ORPHA:672
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosi... OMIM:620351
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Long h... OMIM:619234
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... ORPHA:3342
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... ORPHA:90652
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Posterior rib fusion, Neonatal death, Pulmonary arterial hypertens... OMIM:265380
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Asthma, Recurr... OMIM:102700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Atelosteogenesis Type Iii
Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality... ORPHA:56305
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger ORPHA:1194
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Respiratory insufficiency, Abnormal autonomic ... ORPHA:58
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Pulmonar... OMIM:608149
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Intellectual Developmental Disorder, Autosomal Recessive 78
Optic neuropathy, Kyphoscoliosis, Pectus excavatum, Delayed skeletal maturation, Asthma, Narrow c... OMIM:620237
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... OMIM:114290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... OMIM:620369
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Abnormal distal phalanx m... ORPHA:2636
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Small abnormally formed scapulae, Recurrent... ORPHA:140
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Respiratory failure OMIM:613954
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:85317
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Pelizaeus-Merzbacher Disease
Joint stiffness, Kyphosis, Optic atrophy, Respiratory insufficiency, Scoliosis ORPHA:702
Osteoglophonic Dysplasia
Respiratory distress, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodac... OMIM:166250
Occipital Horn Syndrome
Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu... ORPHA:1855
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Hypoplastic scapulae, Death in early adulthood, Scoliosis ORPHA:79107
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Ruvalcaba Syndrome
Kyphosis, Abnormality of the elbow, Pectus carinatum, Narrow chest, Scoliosis, Abnormal vertebral... ORPHA:3121
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ... ORPHA:352490
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal hip bone morphology, Scoliosis, Hyperlordosis ORPHA:3353
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... ORPHA:261318
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... OMIM:312830
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency, Joint hypermobility, Thin ribs ORPHA:456328
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Narrow ches... OMIM:617022
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaki... ORPHA:137834
Lipodystrophy, Congenital Generalized, Type 4
Spinal rigidity, Recurrent pneumonia, Scoliosis, Hyperlordosis OMIM:613327
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Pectus carinatum, Scoliosis OMIM:609008
3C Syndrome
Death in infancy, Short neck, Missing ribs, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis ORPHA:7
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Slender finger, Small ha... ORPHA:251028
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Finger clinodactyly, Scoliosis, Brachydactyly ORPHA:391474
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum ORPHA:3134
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Hyperlordosis ORPHA:3253
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Pectus excavatum,... OMIM:618371
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... ORPHA:2752
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Wide ... OMIM:182212
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... ORPHA:2554
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... OMIM:616507
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Pectus carinatum ORPHA:500180
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, Synostosis of carpal bones ORPHA:3191
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Optic atrophy, Pectus carinatum, Scoliosis, Joint hypermobility OMIM:617988
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... OMIM:608836
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Thickened ribs, Pneumonia, Craniosynostosis, Short neck, Pectus excavatum, Pec... ORPHA:309282
Spondyloocular Syndrome
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Pectus carinatum, Shield... OMIM:605822
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Optic n... ORPHA:508498
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... ORPHA:2588
Alpha-Mannosidosis
Short neck, Kyphosis, Delayed skeletal maturation, Arthritis, Scoliosis, Avascular necrosis, Syno... ORPHA:61
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hip dysplasia, Cutaneous finger sy... OMIM:616078
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos... ORPHA:363958
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Respiratory insuff... OMIM:269860
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Kyphosis, Posterior rib gap, Bel... ORPHA:1393
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly of finger, Hy... ORPHA:261330
Stiff-Person Syndrome
Lumbar hyperlordosis OMIM:184850
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Delayed closure of the anterior fo... OMIM:305450
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:816
Fraser Syndrome 2
Respiratory failure, Short thorax, Cutaneous syndactyly, Short neck OMIM:617666
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Hypoplastic scapulae, Increased bone m... OMIM:119600
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Short neck, Coxa valga, Bell-... ORPHA:254519
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptoda... OMIM:300280
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure, Osteopetrosis ORPHA:3240
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Clubbing, Bronchiectasis, Respiratory ... ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:615834
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Facial palsy, Optic atrophy, Respiratory failu... OMIM:259720
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, ... OMIM:619269
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... OMIM:617925
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Scoliosis, Abnormal pattern of respiration ORPHA:3095
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... OMIM:154780
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Broad hallux, Facial palsy, Hyperlordosis, Pectus excavatum, Tapered finger, Small ha... OMIM:615873
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P... OMIM:612394
Marden-Walker Syndrome
Short neck, Kyphosis, Wide anterior fontanel, Abnormal sternum morphology, Congenital contracture... OMIM:248700
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Fountain Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hip dysplasia, Scoliosis, Hyperlordosis OMIM:615356
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Apnea, Delayed closure of the anterior fontanelle, Tracheomalacia, Pectus excavat... OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Kyphosis, Scoliosis OMIM:617435
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Clark-Baraitser syndrome
Joint laxity, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis OMIM:300602
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... OMIM:303600
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Limited elbow movement, Short neck,... OMIM:218040
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Optic atrophy, Elbow flexion con... OMIM:618493
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Short neck, Elbow flexion contracture, Knee flexion contractur... OMIM:300868
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Em... OMIM:613658
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Asymmetry of the thorax, Metopic ... ORPHA:457359
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy ORPHA:324737
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:614409
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Scoliosis, Hyperventi... ORPHA:522077
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Coffin-Lowry Syndrome
Death in early adulthood, Pectus excavatum, Kyphosis, Delayed skeletal maturation, Optic atrophy,... ORPHA:192
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Apnea, Kyphosis, Optic atrophy, Respiratory insufficienc... ORPHA:521426
Classic Homocystinuria
Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Pulmonary embolism, Optic atrop... ORPHA:394
Tarp Syndrome
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Optic atro... ORPHA:2886
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Arachnodactyly, Scoliosis, Hyperlordosis OMIM:617011
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Short ne... ORPHA:373
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydactyly, Flat ace... OMIM:616300
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Optic nerve hypoplasia, Short neck OMIM:609053
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Dyspnea... OMIM:614008
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Duane-Radial Ray Syndrome
Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... OMIM:610442
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... OMIM:603116
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Harrod Syndrome
Abnormal shoulder morphology, Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2115
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck, Abnormal mot... ORPHA:2912
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Kyphosis, Optic atrophy, Respiratory insufficiency, Pectus carinatum, Contractures of the ... OMIM:617527
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... OMIM:166220
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f... OMIM:617809
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ... OMIM:609128
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodactyly, Fl... ORPHA:88628
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Recurrent pneumonia, Optic atrophy, Osteopetrosis, Deat... OMIM:612301
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... OMIM:225500
Baralle-Macken Syndrome
Kyphosis OMIM:619255
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Optic nerve hypoplasia, Facial palsy, Camptodactyly of finger, Pectus ex... ORPHA:261349
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphysea... ORPHA:99646
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypoplasia of the m... OMIM:151050
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Flexion contrac... ORPHA:3409
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated skeletal maturation, T... OMIM:602535
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon ORPHA:261222
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:615547
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnormal tibia morphology, Genu valgu... ORPHA:363700
Leigh Syndrome
Respiratory failure, Multiple joint contractures, Optic atrophy, Abnormal pattern of respiration ORPHA:506
Apert Syndrome
Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion, Respiratory insuff... ORPHA:87
Flynn-Aird Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:2047
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Asthma, Flexion contracture, Recurrent pneumonia, Tracheobronc... OMIM:309900
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum ORPHA:1969
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... ORPHA:261344
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon ORPHA:959
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, A... OMIM:239000
Boutonneuse Fever
Respiratory failure ORPHA:83313
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Respiratory failure requiring assisted ventilation, Cra... ORPHA:576
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defe... ORPHA:1005
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Optic atrophy, Hip dysplasia, Scoliosis, Clinodactyly of the 5t... OMIM:616975
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Respiratory insufficiency, Respirat... OMIM:252010
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture OMIM:620327
X-Linked Intellectual Disability, Cabezas Type
Down-sloping shoulders, Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Sc... ORPHA:85293
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi... OMIM:607015
Noonan Syndrome 14
Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Cubitus valgus, Limit... OMIM:619745
Stickler Syndrome
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation... ORPHA:828
Listeriosis
Back pain, Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Septic arthritis ORPHA:533
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Delayed skeletal maturation, Hip dislocation, Short neck OMIM:608776
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pectus excavatum, Kyphosis, Scapular winging, Scoliosis OMIM:617061
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Hyperextensibility of the finger joints, Sacral dimple, Hip contractu... OMIM:619503
Chops Syndrome
Optic atrophy, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral fusion, Chronic lun... OMIM:616368
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Iniencephaly
Absent vertebra, Rocker bottom foot, Hyperlordosis ORPHA:63259
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... ORPHA:581
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Pectus carinatum, Scoliosis, Pulmonary arterial hypertension OMIM:616449
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Kyphosis, Delayed skeletal ma... ORPHA:85199
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Stridor, Fused ... OMIM:617137
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Osteolysis, Abnormal form of th... ORPHA:3042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Tapered finger, Short neck, Hyperlordosis, Long fingers, Scoliosis, Prominent fing... OMIM:619950
Marinesco-Sjogren Syndrome
Cubitus valgus, Kyphosis, Flexion contracture, Scoliosis OMIM:248800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... ORPHA:77259
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Clinodactyly of the 4th finger, Clinodactyly of the 2nd finger, Scapular winging, Hyperlordosis ORPHA:73223
Cohen Syndrome
Pectus excavatum, Kyphosis, Optic atrophy, Genu valgum, Joint hyperflexibility, Scoliosis, Cubitu... ORPHA:193
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of the 5th finger... ORPHA:158687
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Pectus excavatum, Kyphosis, Scoliosis, Camptodactyly, Joint hypermobility OMIM:617602
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ... ORPHA:2232
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis ORPHA:653
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Equinus calcaneus ORPHA:746
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphosc... ORPHA:536532
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Kyphosis OMIM:300354
Distal Triplication 15Q
Craniosynostosis, Kyphosis, Flexion contracture, Abnormal sternum morphology, Scoliosis, Camptoda... ORPHA:314588
Autosomal Recessive Malignant Osteopetrosis
Apnea, Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mi... ORPHA:667
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Abetalipoproteinemia
Respiratory failure, Kyphoscoliosis ORPHA:14
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder mor... OMIM:274000
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Kyphosis, Abnormal rib morphology, Hip dislocation, Respiratory insufficiency, ... ORPHA:534
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Respiratory insufficiency OMIM:619909
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Abnormal sternum morphology, Scoliosis OMIM:177850
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilatory defect, Res... ORPHA:420741
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Down-sloping shoulders, Kyphoscoliosis, ... OMIM:309800
Williams Syndrome
Hallux valgus, Death in early adulthood, Sacral dimple, Down-sloping shoulders, Hyperlordosis, Pe... ORPHA:904
Weaver Syndrome
Dysharmonic bone age, Accelerated skeletal maturation, Kyphosis, Short ribs, Scoliosis, Camptodac... OMIM:277590
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Aganglionic megacolon, Proximal placement of thumb, Short neck, Kyphosis, Post... ORPHA:818
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Osteoporosis, Scoliosis OMIM:615381
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Rett Syndrome
Kyphosis, Apnea, Scoliosis, Intermittent hyperventilation OMIM:312750
Micro Syndrome
Kyphosis, Optic atrophy, Scoliosis, Joint stiffness ORPHA:2510
Postencephalitic Parkinsonism
Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough ORPHA:97349
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian... OMIM:166200
Hurler Syndrome
Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, S... OMIM:607014
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum, Kyphosis,... OMIM:249420
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Cowden Syndrome 5
Pectus excavatum, Kyphosis, Scoliosis OMIM:615108
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Craniosynostosis, Pectus excavatum, Ky... OMIM:616914
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
15Q24 Microdeletion Syndrome
Joint laxity, Kyphosis, Scoliosis ORPHA:94065
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Craniorachischisis
Bifid sternum ORPHA:63260
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Kyphosis, Scoliosis, Recurrent sinusitis, Joint contra... OMIM:609029
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Kyphosis, Genu recurvatum, Scoliosis ORPHA:364028
Cowden Syndrome 6
Pectus excavatum, Kyphosis, Scoliosis OMIM:615109
Charge Syndrome
Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Res... ORPHA:138
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Short neck ORPHA:647
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Prominent protruding coccyx, P... OMIM:300966
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Short neck, Kyphosis, Delayed skeletal maturati... ORPHA:251014
Fontaine Progeroid Syndrome
Syndactyly, Death in infancy, Craniosynostosis, Wide anterior fontanel, Pneumothorax, Respiratory... OMIM:612289
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Interstitial emphysema, Optic atrophy, Bronchiectasis, Knee flexion contracture OMIM:619708
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Facial palsy, Aplastic clavicle, Kyphosis, Delayed skeletal matur... ORPHA:2658
Mgat2-Cdg
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis ORPHA:79329
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Joint hypermobility, Kyphosis, Scoliosis, Bicoronal synostosis OMIM:619951
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ankle flexion contracture, Pectus excavatum, Kyphosis, Scoliosis, Flexion cont... ORPHA:464311
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Pectus carinatum, Scoliosis, Pulmonary arterial hypertension, Cont... ORPHA:464738
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Pectus excavatum, Kyphosis OMIM:609944
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Joint hyperflexibility, Scoliosis, Genu varum ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bone pai... ORPHA:955
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:476126
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Pectus excavatum, Kyphosis, Abnormal form of the verteb... ORPHA:2461
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis ORPHA:90322
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Cowden Syndrome 1
Pectus excavatum, Kyphosis, Scoliosis OMIM:158350
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Optic atrophy, Death in infancy ORPHA:991
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Prea... OMIM:113620
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies OMIM:219090
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Scoliosis ORPHA:88644
Alstrom Syndrome
Accelerated skeletal maturation, Kyphosis, Asthma, Recurrent pneumonia, Scoliosis OMIM:203800
Bloom Syndrome
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure ORPHA:125
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Spontaneous pneumothorax, Protrusio acetabuli, Limited elbow mo... ORPHA:558
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Sacral dimple, Respiratory failure ORPHA:2556
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Pectus excavatum, Kyphosis, Scoliosis, Abnormalit... ORPHA:464306
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Asthma, Flexion contracture, Scoliosis ORPHA:500055
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Finger swelling,... OMIM:309000
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis OMIM:610475
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility OMIM:619718
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration... OMIM:619482
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Pectus excavatum, Kyphosis, Elbow flexion contracture, Knee flexion ... OMIM:619194
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Neonatal respiratory distress, Scoliosis, Death in childhood OMIM:619005
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failure ORPHA:79404
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of finger... ORPHA:3380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Platys... ORPHA:2273
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis, Aspiration OMIM:613454
Ramon Syndrome
Kyphosis, Juvenile rheumatoid arthritis, Optic disc pallor, Scoliosis OMIM:266270
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphoscoliosis, Pectus excavatum, Kyphosis, Osteoporosis, Pectus carinatum, ... ORPHA:3063
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Death in infancy, Kyphosis, Flexion contracture, Death in childhood OMIM:212065
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Asthma, Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Cer... ORPHA:444077
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Accelerated skeletal maturation OMIM:300942
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hip subluxation, Scoliosis OMIM:619557
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio OMIM:211380
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis OMIM:610489
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis, Optic atrophy ORPHA:171629
Prader-Willi Syndrome
Osteopenia, Hypoventilation, Kyphosis, Osteoporosis, Genu valgum, Scoliosis OMIM:176270
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Scoliosis ORPHA:398069
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Absent radius, Short thumb, Radial ... OMIM:214800
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphosis, Limitation of... OMIM:133540
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Congenital hip dislocation, Delayed cranial suture closure, Delayed... OMIM:278250
Mend Syndrome
Kyphosis, Sacral dimple, Wide anterior fontanel, Abnormal auditory evoked potentials ORPHA:401973
Atelis Syndrome 2
Dyspnea, Kyphosis, Sacral dimple OMIM:620185
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia OMIM:164210
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Osteomalacia, Stippled calcification of the should... ORPHA:51608
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Pectus excavatum, Kyphosis, Delayed skeletal maturation, Osteoporosis, Ne... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Pectus excavatum, Kyphosis, Delayed skeletal maturation, Osteoporosis, Ne... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Pectus excavatum, Kyphosis, Delayed skeletal maturation, Osteoporosis, Ne... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Pectus excavatum, Kyphosis, Delayed skeletal maturation, Osteoporosis, Ne... ORPHA:881
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Cockayne Syndrome A
Hip contracture, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphos... OMIM:216400
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... ORPHA:2908
Cockayne Syndrome Type 3
Optic disc pallor, Kyphosis, Flexion contracture, Scoliosis, Abnormality of peripheral nerve cond... ORPHA:90324
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Lymphedema-Distichiasis Syndrome
Kyphosis, Chylothorax OMIM:153400
Cowden Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:201
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Pectus excavatum, Kyphosis, Scoliosis, Osteochondrosis ORPHA:268261
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Aplasia/Hypoplasia of the patella, Kyphosis, Delayed skeletal matura... OMIM:135900
Cockayne Syndrome
Optic disc pallor, Decreased nerve conduction velocity, Kyphosis, Optic atrophy, Contractures of ... ORPHA:191
Proteus Syndrome
Craniosynostosis, Joint stiffness, Pulmonary embolism, Kyphosis, Hip dislocation, Abnormal form o... ORPHA:744
Primrose Syndrome
Hip contracture, Joint hypermobility, Pectus excavatum, Kyphosis, Flexion contracture, Osteoporos... OMIM:259050
Viss Syndrome
Joint laxity, Recurrent joint dislocation, Joint hypermobility, Pectus excavatum, Kyphosis, Gener... OMIM:619472
Sotos Syndrome
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Aganglionic megacolon, Ankle flexion cont... ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalanx of the thum... OMIM:300967
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Osteomyelitis, Kyphosis, Abnormal curvature of the vertebral column, Gen... OMIM:619475
Yunis-Varon Syndrome
Wide cranial sutures, Absent sternal ossification, Hypoplastic scapulae, Down-sloping shoulders, ... OMIM:216340
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Scoliosis, Genu varum ORPHA:636
17Q11 Microdeletion Syndrome
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... ORPHA:97685
Acromegaly
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis ORPHA:314769
Pmm2-Cdg
Respiratory distress, Kyphoscoliosis, Long fingers, Platyspondyly, Aspiration pneumonia ORPHA:79318
Alström Syndrome
Respiratory distress, Optic disc pallor, Thoracic scoliosis, Accelerated skeletal maturation, Kyp... ORPHA:64

Histopathology

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

There is no histopathology data for Uncx

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Uncxtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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