Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myogenin
Synonyms:
myo,  bHLHc3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myog 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 Myog by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Edema, Skeletal muscle atrophy, Neonatal death, Widening of cervical ... OMIM:253310
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... OMIM:611369
Sprengel Deformity
Scoliosis, Hemivertebrae, Shoulder muscle hypoplasia, Cervical segmentation defect, Rib segmentat... OMIM:184400
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Short ribs, Syndactyl... OMIM:173800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Restrictive ventilatory defect, Respiratory insufficienc... OMIM:617232
Sprengel Deformity
Torticollis, Short neck, Shoulder muscle hypoplasia, Abnormal shoulder morphology, Abnormality of... ORPHA:3181
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Death in adolescence, Respira... OMIM:300717
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial instability, Joint ... OMIM:600561
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, Metaphyseal irr... OMIM:613330
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Respiratory insufficiency, Weakness of facial musculature, Inflammatory ... ORPHA:1145
Spinal Muscular Atrophy, Type I
Death in childhood, Recurrent respiratory infections, Proximal muscle weakness in lower limbs, Pr... OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Shoulder girdle muscle weakness, Autophagic vacuoles, Res... ORPHA:266
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Death in infancy,... OMIM:617405
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Hip dislocation, Hyperextensibility at wrists, Spinal rigidity, Increased endomysial c... ORPHA:75840
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Short neck, Skeletal muscle atrophy, Kyphosis, Rocker bottom foot, Micrognathia, N... OMIM:618393
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Torticollis, Scoliosis, Peroneal muscle atrophy, Muscle fiber splitting, Hip dyspla... OMIM:181405
Axial Spondylometaphyseal Dysplasia
Scoliosis, Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic s... ORPHA:168549
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Scoliosis, Torticollis, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthr... OMIM:618155
Parastremmatic Dwarfism
Scoliosis, Short neck, Kyphosis, Flexion contracture, Genu valgum, Bowing of the long bones OMIM:168400
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Spinal ri... OMIM:604801
Dysosteosclerosis
Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Absent paranasal sin... OMIM:224300
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Respiratory insufficiency, Short ribs, Neonatal de... OMIM:187601
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Short neck, Limb undergrowth, S... ORPHA:1803
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Neonatal respiratory distress, Limb undergrowth, Metaphyseal widening, Short ... OMIM:618961
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Respi... OMIM:618414
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Thoracolumbar scoliosis, Respiratory insufficiency, Knee flexion contracture, Kypho... OMIM:313420
Achondrogenesis, Type Ib
Hypoplastic ilia, Inguinal hernia, Absent or minimally ossified vertebral bodies, Respiratory ins... OMIM:600972
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Missing ribs, Flat acetab... ORPHA:1801
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Hip dysplasia, Facial diplegia, Short neck, Respiratory insufficiency due to muscle we... OMIM:611890
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphalangeal joint contracture of finge... OMIM:305620
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Cardiorespiratory arrest, Delayed proximal femoral epiphyseal ossif... ORPHA:93296
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Scoliosis, Pectus excavatum, Restrictive ventilatory defect, Respiratory... OMIM:614399
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Limited elbow extension, Scoliosis, Hip dislocation, Hip dysplasia, Ulnar deviation of finger, Hy... ORPHA:93359
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Spinal muscular atrophy, Respiratory insufficiency, Skeletal muscle atrophy, ... OMIM:616081
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Respiratory insufficiency, Skeletal muscle atrophy, Flexion contracture, M... OMIM:614915
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Rhizomelia, Thin ribs, Wafer-thin platyspondyly, Micromelia, Metaphyseal irr... OMIM:151210
Perching Syndrome
Camptodactyly, Scoliosis, Respiratory distress, Cyanosis, Joint contracture OMIM:617055
Neuronopathy, Distal Hereditary Motor, Type Viii
Distal lower limb amyotrophy, Nonprogressive muscular atrophy, Scoliosis, Spinal muscular atrophy... OMIM:600175
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Micromelia, Stillb... OMIM:215045
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Scoliosis, Short lower limbs, Pectus excavatum, Kyphosis, Multiple prenatal fracture... OMIM:259440
Bethlem Myopathy 2
Scoliosis, Hip dislocation, Distal joint laxity, Myopathy, Kyphosis, Scapular winging, Increased ... OMIM:616471
Thoracopelvic Dysostosis
Neonatal respiratory distress, Short ribs OMIM:187770
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Thin metacarpal cortices, Loss of truncal subcutaneous adipose tissue, Thin rib... ORPHA:2463
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Metaphyseal irregularity, Brachydactyly, Lateral clavicle ... OMIM:269250
Bruck Syndrome 1
Scoliosis, Osteoporosis, Knee flexion contracture, Vertebral wedging, Kyphosis, Platyspondyly, Pr... OMIM:259450
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Shoulder girdle muscle weakness, Restrictive ventilatory defect, Type 1 muscle fiber p... ORPHA:98913
Marinesco-Sjögren Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Myopathy, Avascular necrosis of the capital femoral ep... ORPHA:559
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia involvin... ORPHA:2926
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, D... ORPHA:3268
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Scoliosis, Minicore myopathy, Respiratory insufficiency, Muscul... OMIM:255320
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Met... OMIM:187760
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Muscular dystrophy, Death in infancy, Apnea, Respiratory failure OMIM:613869
Congenital Patella Dislocation
Limited knee extension, Knee flexion contracture, Genu valgum, Aplasia/Hypoplasia of the quadriceps ORPHA:295036
Three M Syndrome 1
Neonatal respiratory distress, Pectus excavatum, Hip dislocation, Short thorax, Short neck, Incre... OMIM:273750
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Lower limb muscle weakness, Cough, Tremor, Upper limb muscle weakn... ORPHA:90117
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Pulmonary arterial hypertension, Short neck, Metaphyseal cupping, Flat acetab... OMIM:613320
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Scoliosis, Hip dislocation, Decreased cervical spine mob... ORPHA:370968
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Pla... OMIM:614524
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Scoliosis, Respiratory insufficiency due to muscle weakness, Intercostal muscle weak... ORPHA:2020
Intermediate Nemaline Myopathy
Abnormal thorax morphology, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle at... ORPHA:171433
Nemaline Myopathy 8
Death in infancy, Myofibrillar myopathy, Nemaline bodies, Facial palsy, Respiratory failure, Flex... OMIM:615348
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Hypoxemia, Respiratory distress, Conge... ORPHA:2140
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Pectus excavatum, Scoliosis, Facial diplegia, Distal lower limb mus... OMIM:609284
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Neonatal respiratory distress, Hypoplastic ilia, Short greater sciatic notch... OMIM:187600
Bone Dysplasia, Lethal Holmgren Type
Abnormal diaphysis morphology, Short neck, Short ribs, Rhizomelia, Respiratory insufficiency, Abn... ORPHA:1842
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... OMIM:603689
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Pulmonary hypoplasia, Death in infancy, Neonatal death, Increased variability... OMIM:614096
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Short neck, Respiratory insuf... OMIM:300718
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Rhizomelia, Broad long bones, Posterio... OMIM:228520
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: myopathic abnorm... ORPHA:609
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Hallux valgus, Poor wound healing, Bruising susceptibility, Kyphosis, Osteopenia, Cont... OMIM:130060
Gnathodiaphyseal Dysplasia
Scoliosis, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... ORPHA:53697
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pulmo... OMIM:616867
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Micromelia, Metaphyseal irregularity, Coxa vara, Central vertebral hypoplasia, Short n... OMIM:602557
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Butterfly vertebrae, Short lower limbs, Short neck, Coronal cleft vertebrae... OMIM:620076
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Scoliosis, Spinal muscular atroph... OMIM:615290
Myopathy, X-Linked, With Postural Muscle Atrophy
Scoliosis, Short neck, Respiratory insufficiency, Hamstring contractures, Skeletal muscle atrophy... OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Scoliosis, Proximal amyotrophy, Shoulder girdle muscle weakness, Vertebral fusion, ... OMIM:606612
Cooper-Jabs Syndrome
Camptodactyly of finger, Scoliosis, Reduced bone mineral density, Proximal placement of thumb, Re... ORPHA:1488
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Fractured radius, Pleural effusion, Decreased fibular diameter,... OMIM:616897
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy, Kyphosis, Joint contracture OMIM:611225
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Bowing of the long bones, Vertebral wedging, Kyphosis, Acromes... ORPHA:40
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Postaxial polydact... OMIM:617895
Scarf Syndrome
Craniosynostosis, Diastasis recti, Inguinal hernia, Short neck, Umbilical hernia, Enamel hypoplas... ORPHA:3134
Fibrochondrogenesis
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short nec... ORPHA:2021
Neuralgic Amyotrophy
Respiratory insufficiency, Sprengel anomaly, Acrocyanosis, Scapular winging ORPHA:2901
Rigid Spine Syndrome
Scoliosis, Abnormality on pulmonary function testing, Myopathy, Respiratory insufficiency, Hamstr... ORPHA:97244
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Respira... ORPHA:66637
Osteogenesis Imperfecta, Type Xix
Pectus excavatum, Scoliosis, Rhizomelia, Vertebral wedging, Multiple prenatal fractures, Osteopen... OMIM:301014
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb ... OMIM:619042
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnorma... ORPHA:2790
Hyperekplexia 4
Camptodactyly, Inguinal hernia, Distal arthrogryposis, Umbilical hernia, Adducted thumb, Respirat... OMIM:618011
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Short neck, Skeletal muscle atrophy, Abnormal hip bone morphol... ORPHA:1486
Hypophosphatasia, Infantile
Rachitic rosary, Craniosynostosis, Short lower limbs, Metaphyseal cupping, Short ribs, Death in i... OMIM:241500
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Myopathy, Respiratory insufficiency, Type 1 muscle fiber predominance, Nemal... OMIM:605355
Achondrogenesis, Type Ia
Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Short nec... OMIM:200600
Hereditary Motor And Sensory Neuropathy, Type Iic
Distal lower limb amyotrophy, Down-sloping shoulders, Scoliosis, Distal lower limb muscle weaknes... OMIM:606071
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Minicore myopathy, Short neck, Respiratory insuffi... ORPHA:178148
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Joint stiffness, Long thorax,... ORPHA:2635
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Hypoplastic ilia, Short neck, Limb undergrowth, Short ribs, Respiratory insufficienc... ORPHA:1865
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... OMIM:186500
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Mesomelic/rhizomelic limb shortening, Death in infancy, Kyphosis,... ORPHA:1354
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Abnormal thorax morphology, Facial diplegia, Type 1 muscle fiber pr... ORPHA:171430
Lethal Congenital Contracture Syndrome 11
Camptodactyly, Distal arthrogryposis, Pulmonary hypoplasia, Flexion contracture of finger, Flexio... OMIM:617194
Frontometaphyseal Dysplasia
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Short metatarsal, Metacarpoph... ORPHA:1826
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Scoliosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Foo... OMIM:617087
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Rhizomelia, M... OMIM:215140
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Respiratory insufficiency, ... OMIM:256050
Monosomy 5P
Scoliosis, Inguinal hernia, Abnormality of bone mineral density, Short neck, Finger syndactyly, M... ORPHA:281
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Genu varum, Irregular vertebral endplates, Br... OMIM:609223
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Short thumb, Overlapping toe, Kyphosis, Clinodactyly of the 5th finger OMIM:618453
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Brachydactyly, Coxa vara, Metaphyseal w... OMIM:250420
Nemaline Myopathy 9
Scoliosis, Respiratory insufficiency, Nemaline bodies, Narrow chest, Micrognathia, Arthrogryposis... OMIM:615731
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Ventilator dependence with inability to wean, Spinal muscular atrophy, Myopathy, Respi... ORPHA:254875
Achondroplasia
Generalized joint laxity, Rhizomelia, Upper airway obstruction, Radial bowing, Bowing of the legs... OMIM:100800
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi... OMIM:607778
Congenital Myopathy 23
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... OMIM:609285
Poland Syndrome
Scoliosis, Abnormality of the humerus, Absent hand, Asymmetry of the thorax, Finger symphalangism... ORPHA:2911
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Tachypnea, Restrictive ventilato... ORPHA:2257
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death, Apnea OMIM:615228
Scarf Syndrome
Diastasis recti, Coronal craniosynostosis, Inguinal hernia, Short neck, Umbilical hernia, Enamel ... OMIM:312830
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Tremor, ... ORPHA:2590
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Weakness of facial musculature, Respiratory failure OMIM:618637
Spinal muscular atrophy, type I, with congenital bone fractures
Pectus excavatum, Congenital hip dislocation, Decreased muscle mass, Arachnodactyly, Multiple pre... OMIM:271225
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Respiratory insufficiency, Skeletal muscle atrophy, Death in infancy, Spinal rigidity, ... ORPHA:157973
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Nemaline bodies, Neonatal death, Adducted thumb, Respirator... OMIM:619334
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Scoliosis, Myopathy, Respiratory insufficiency, Weakness of faci... OMIM:254940
Lethal Congenital Contracture Syndrome 8
Distal arthrogryposis, Facial diplegia, Distal amyotrophy, Polyhydramnios, Death in infancy, Neon... OMIM:616287
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Short neck, Metaphyseal widening, Short ribs, Advanced ossification of carpal bone... OMIM:224400
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... ORPHA:56304
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Increased vertebral height, Platyspondyly, Short thorax, Kyphosco... ORPHA:93304
Multiple Pterygium Syndrome, X-Linked
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Micrognathia, Increased s... OMIM:312150
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Camptodactyly, Distal arthrogryposis, Pulmonary hypoplasia, Knee flexion contracture, Scapular wi... OMIM:617468
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Hip dislocation, Congenital hip dislocation, Femur... OMIM:618291
Solitary Bone Cyst
Lytic defects of the radius, Pathologic fracture, Bone pain, Unicameral bone cyst, Abnormal ilium... ORPHA:83468
Congenital Multicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 muscle fiber predominance, Respiratory failure, Recurrent respiratory infection... ORPHA:98905
Cleidocranial Dysplasia 1
Spondylolysis, Scoliosis, Hip dislocation, Spondylolisthesis, Increased susceptibility to fractur... OMIM:119600
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal muscle fiber protein expres... ORPHA:488650
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... OMIM:610921
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Short sternum OMIM:258850
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Short tubular ... OMIM:200610
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Acrocyanosis, Tapered finger OMIM:302000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Weakness ... ORPHA:52430
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Mu... OMIM:609524
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... OMIM:609052
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Myopathy, Kyphosis, Spinal rigidity, Joint hypermobility, Flexion contracture, General... OMIM:618323
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Camptodactyly of finger, Vertebral segmentation defect, Abnormal lung lobation ORPHA:2631
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Beaded ribs, Limb undergrowth, Respiratory insufficiency, Thin ribs, Broad l... OMIM:166210
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Multiple Pterygium Syndrome, Lethal Type
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Micrognathia, Increased s... OMIM:253290
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Scoliosis, Severe generalized osteoporosis, Thin ribs, Kyphosis,... OMIM:259420
Bruck Syndrome 2
Inguinal hernia, Knee flexion contracture, Osteopenia, Platyspondyly, Pectus carinatum, Increased... OMIM:609220
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Scoliosis, Enlarged thorax, Umbilic... OMIM:614856
Braddock Syndrome
Neonatal respiratory distress, Pectus excavatum, Scoliosis, Pulmonary arterial hypertension, Shor... ORPHA:52047
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, K... OMIM:616531
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat... OMIM:263000
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... ORPHA:1797
Osteogenesis Imperfecta, Type Xv
Scoliosis, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Recurrent fractur... OMIM:615220
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Pectus excavatum, Kyphosis OMIM:609384
Bruck Syndrome
Scoliosis, Joint stiffness, Respiratory insufficiency, Osteoporosis, Kyphosis, Platyspondyly, Rec... ORPHA:2771
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Scoliosis, Joint stiffness, Myopathy,... ORPHA:598
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Abnormal calcification of the carpal bones, Broad long bones, Atlantoaxial instability... OMIM:271665
Achondrogenesis Type 1A
Short thorax, Short neck, Umbilical hernia, Femoral hernia, Abnormal enchondral ossification, Mic... ORPHA:93299
Marshall-Smith Syndrome
Death in childhood, Short distal phalanx of finger, Scoliosis, Hip dysplasia, Large sternal ossif... OMIM:602535
Pyknoachondrogenesis
Abnormal iliac wing morphology, Horizontal ribs, Craniofacial hyperostosis, Enlarged thorax, Poor... ORPHA:3003
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Myopathy ORPHA:91130
3Mc Syndrome 2
Craniosynostosis, Partial abdominal muscle agenesis, Diastasis recti, Torticollis, Hip dislocatio... OMIM:265050
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Kyphosis, Broad femoral neck, Abnormality of the epiphysis of the femor... ORPHA:2114
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Missing ribs, Verte... OMIM:617866
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Poor wound healing, Shoulder flexion contracture, Foot joint contracture, Congenital f... ORPHA:536516
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Nail-Patella Syndrome
Limited elbow extension, Patellar aplasia, Absence of pectoralis minor muscle, Scoliosis, Lumbar ... OMIM:161200
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Pectus excavatum, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervica... OMIM:615349
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Nemaline Myopathy 2
Scoliosis, Type 1 muscle fiber predominance, Respiratory insufficiency due to muscle weakness, Sp... OMIM:256030
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Pectus excavatum, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Stillbi... OMIM:259410
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Abnormal form of the vertebral bodies, Missing ribs, Hemivertebrae, Abnormal rib morphol... ORPHA:2759
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Lower limb amyotrophy, Upper limb amyotrophy, Intrinsic hand muscle... ORPHA:90103
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress, Kyphoscoliosis, Tremor OMIM:619099
Myotonia With Skeletal Abnormalities And Mental Retardation
Irregular femoral epiphysis, Vertebral wedging, Skeletal muscle hypertrophy, Firm muscles, Bell-s... OMIM:255710
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... OMIM:265120
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Scoliosis, Kyphosis, Tremor, Distal upper limb amyotrophy ORPHA:101075
Diastrophic Dysplasia
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Micromelia, Abnor... ORPHA:628
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Camptodactyly, Scoliosis, Pulmonary arterial hypertension, Death in adolesce... OMIM:619751
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Bell-shaped thorax, S... OMIM:615630
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Lipoatrophy, Shoulder girdle muscle atrophy, Kyphosis, Micromelia, P... ORPHA:64755
Nemaline Myopathy 7
Minicore myopathy, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Weakness of facial musc... OMIM:610687
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Proximal amyotrophy, Respiratory insufficiency, Kyphosis, Spinal rigidity, Increased a... OMIM:617404
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... OMIM:619773
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Short ribs, Death in infancy, Micromelia, Toe syndac... OMIM:241800
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Polyhydramnios, Micrognathia, Joint contracture OMIM:225790
Meier-Gorlin Syndrome 1
Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Delayed skeletal matur... OMIM:224690
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Myopathy, Weakness of facial musculature, Respiratory insufficiency due to muscle weakne... ORPHA:352447
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... ORPHA:93314
Donnai-Barrow Syndrome
Umbilical hernia, Omphalocele, Congenital diaphragmatic hernia, Short sternum, Diaphragmatic even... OMIM:222448
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal chondrodysplasia, Pathologic fracture, Metaphyseal cupping, Short ribs, Knee flexion ... OMIM:156400
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, ... ORPHA:2347
Gorham-Stout Disease
Patchy reduction of bone mineral density, Torticollis, Osteolysis, Pathologic fracture, Abnormal ... ORPHA:73
Sialidosis Type 2
Dyspnea, Inguinal hernia, Umbilical hernia, Osteoporosis, Skeletal muscle atrophy, Kyphosis, Trem... ORPHA:87876
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Spinal rigidity, Cyanosis, Neuropathic spinal arthropathy, Kyp... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Spinal rigidity, Cyanosis, Neuropathic spinal arthropathy, Kyp... ORPHA:98914
Hypophosphatasia
Craniosynostosis, Abnormal metaphysis morphology, Respiratory insufficiency, Abnormal rib morphol... ORPHA:436
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Scoliosis, Hip dislocation, Increased laxity of fingers,... OMIM:254090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Hypoplastic pelvis, Erythema, Aplasia of the distal phalanx of t... OMIM:308050
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Neonatal respiratory distress, Camptodactyly, Scoliosis, Inguinal hernia, Short neck, Calcaneoval... OMIM:616266
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Short thorax, Respiratory insufficien... ORPHA:474
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pectus excavatum, Scoliosis, Osteoporosis, Coxa valga, Platyspondyly, Bell-s... OMIM:619131
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Hyperextensibility at elbow, Vertebral wedging, Osteopen... OMIM:610967
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Hand polydactyly, Jaundice, Lateral clavicle hook, Early oss... OMIM:208500
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension, Neonatal death OMIM:619003
Typical Nemaline Myopathy
Scoliosis, Hip dislocation, Type 1 muscle fiber predominance, Spinal rigidity, Facial diplegia, M... ORPHA:171436
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Scoliosis, Hip dislocation, Thoracic kyphosis, Facial diplegia, Di... ORPHA:70
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonatal death OMIM:245650
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Momo Syndrome
Cutis marmorata, Short sternum, Delayed skeletal maturation, Short neck OMIM:157980
Poliomyelitis
Stiff neck, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Skeletal muscle atro... ORPHA:2912
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Camptodactyly of toe, Hallux valgus, Lateral clavicle h... OMIM:600920
Tarp Syndrome
Pectus excavatum, Postaxial polydactyly, Hypoplasia of the radius, Rocker bottom foot, Cutaneous ... OMIM:311900
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Bruising susceptibility, Rhizomelia, Mesomelia, Vertebral compression fracture, Oste... OMIM:616229
Prieto Syndrome
Inguinal hernia, 11 pairs of ribs, Osteoporosis, Coxa valga, Radial deviation of finger, Clinodac... OMIM:309610
Weaver Syndrome
Scoliosis, Inguinal hernia, Calcaneovalgus deformity, Broad thumb, Accelerated skeletal maturatio... OMIM:277590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, ... OMIM:252600
Fibrodysplasia Ossificans Progressiva
Scoliosis, Hallux valgus, Abnormality of the first metatarsal bone, Metaphyseal widening, Respira... OMIM:135100
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98863
Cornelia De Lange Syndrome 1
Inguinal hernia, Proximal placement of thumb, Hypoplastic radial head, Micromelia, Supernumerary ... OMIM:122470
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Pectus excavatum, Inguinal hernia,... ORPHA:1101
Geroderma Osteodysplastica
Scoliosis, Hip dislocation, Osteoporosis, Vertebral compression fracture, Abnormal epiphysis morp... ORPHA:2078
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Facial palsy, Mandibular osteomyelitis, Osteopetrosis, Recurrent frac... OMIM:166600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Kyphosis, Sh... OMIM:618392
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Death in infancy, Respiratory failure OMIM:225753
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Lumbar hyperlordosis, Long clavicles, Ap... ORPHA:2839
Muscular Dystrophy, Duchenne Type
Scoliosis, Restrictive ventilatory defect, Muscular dystrophy, Hamstring contractures, Knee flexi... OMIM:310200
Spondylocostal Dysostosis 4, Autosomal Recessive
Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, R... OMIM:613686
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Short neck, Cutis marmorata, Femoral bowing, Short st... ORPHA:2563
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Pectus excavatum, Thoracic kyphosis, Postaxial hand polydactyly, Shor... ORPHA:2752
Autosomal Recessive Spastic Paraplegia Type 53
Limb dystonia, Upper limb hypertonia, Kyphosis, Pectus carinatum, Joint hyperflexibility ORPHA:319199
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Inguinal hernia, Short ribs, Umbilical hernia, Thin ribs, Undulate ribs, Osteo... OMIM:618188
Neonatal Severe Primary Hyperparathyroidism
Narrow chest, Abnormal metaphysis morphology, Recurrent fractures ORPHA:417
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Inguinal hernia, Short thorax, Short neck, Respiratory insuff... ORPHA:2311
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Rimmed vacuo... ORPHA:98855
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia, Hypoxemia... ORPHA:2847
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Lethal Recessive Chondrodysplasia
Macroglossia, Edema, Limb undergrowth, Flared elbow metaphyses, Polyhydramnios, Micromelia, Short... ORPHA:1423
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Skeletal muscle atrophy, Kyphosis, Scoliosis ORPHA:101078
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Scoliosis, Restrictive ventilatory defect, Rhizomelia, Anterior rib cupping,... OMIM:602271
Mycetoma
Abnormal appendicular skeleton morphology, Abnormal forearm bone morphology, Pathologic fracture,... ORPHA:2583
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Dyspnea, Respiratory insuffici... OMIM:606842
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98853
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Restrictive ventilatory defect, Weakness of facial musculature, Kyphosis, Flexion cont... OMIM:618484
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short neck, Mandibular aplasia, Respiratory distress, Respiratory failure, Micrognathia ORPHA:1832
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short metacarpal, Synostosis of c... ORPHA:93351
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Missing ribs, Camptodactyly of finger ORPHA:1759
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Broad phalanx, Short phalanx of finger OMIM:618724
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Scoliosis, Respiratory insufficiency, Pulmonary hypoplasia, Generalized ... ORPHA:994
Geroderma Osteodysplasticum
Camptodactyly, Irregular vertebral endplates, Osteoporosis, Vertebral compression fracture, Osteo... OMIM:231070
Congenital Myopathy 8
Scoliosis, Respiratory insufficiency, Type 1 muscle fiber predominance, Weakness of facial muscul... OMIM:618654
Central Core Disease
Neonatal respiratory distress, Congenital hip dislocation, Myopathy, Type 1 muscle fiber predomin... ORPHA:597
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy OMIM:616733
Diastrophic Dysplasia
Short finger, Scoliosis, Lumbar hyperlordosis, Ulnar deviation of finger, Flattened epiphysis, Ir... OMIM:222600
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Pathologic fracture, Myopathy, Stenosis of the medullary cavity of the long bones, Premature gray... OMIM:112250
Nemaline Myopathy 10
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Death in infancy, Nema... OMIM:616165
Osteogenesis Imperfecta, Type Viii
Scoliosis, Inguinal hernia, Thin ribs, Multiple prenatal fractures, Femoral retroversion, Decreas... OMIM:610915
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Irregular acetabular roof, Flared iliac wing, Halberd-shaped pelvis, Cone-shaped epiph... OMIM:184252
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Distal amyotrophy, Kyphosis, Limitation of joint mobilit... ORPHA:3454
Rare Circulatory System Disease
Abnormal metatarsal morphology, Thoracic kyphosis, Decreased finger mobility, Abnormal finger mor... ORPHA:98028
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Sacrococcygeal teratoma, Short distal phalanx of finger, Short 1st metacarpal, Shor... OMIM:269150
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Short neck, O... ORPHA:3409
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Lumbar hyperlordosis, Narrow greater sciatic notch, Irregular vertebral endplates, Fla... OMIM:609616
Focal Dermal Hypoplasia
Camptodactyly of finger, Scoliosis, Inguinal hernia, Toe syndactyly, Hypoplastic pelvis, Diastasi... ORPHA:2092
Myopathy, Myofibrillar, 6
Scoliosis, Lower limb muscle weakness, Muscular dystrophy, Restrictive ventilatory defect, Knee f... OMIM:612954
Myopathy, Centronuclear, 2
Scoliosis, Respiratory insufficiency due to muscle weakness, EMG: myopathic abnormalities, Kyphos... OMIM:255200
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Osteolysis, Abnormal metaphysis morphology, Genu varum, Abnormal adipose tissue morpho... ORPHA:93160
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Short ribs, S... OMIM:616300
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Short neck, Short femoral neck, Back pain, Squared-off platyspondy... OMIM:271630
Spondylometaphyseal Dysplasia, Sedaghatian Type
Horizontal inferior border of scapula, Metaphyseal cupping, Rhizomelia, Short toe, Flared iliac w... OMIM:250220
Mesomelic Dysplasia, Kantaputra Type
Dumbbell-shaped humerus, Camptodactyly of finger, Abnormality of fibula morphology, Abnormality o... ORPHA:1836
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin bony cortex, Umbilical hernia, Thin ribs, Vertebral compression fr... OMIM:617952
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Death in adolescenc... OMIM:122860
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Inguinal hernia, Spinal muscular atrophy, Myopathy, Respiratory insufficiency, Respira... OMIM:301830
Myasthenic Syndrome, Congenital, 5
Scoliosis, Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Respiratory insuffi... OMIM:603034
Spastic Paraplegia 53, Autosomal Recessive
Upper limb hypertonia, Kyphosis, Lower limb hypertonia, Pectus carinatum, Joint hyperflexibility,... OMIM:614898
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Restrictive ventilatory defect, Hemivertebrae, Vertebral clefting, Rib fusion, Verteb... OMIM:608681
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, Tracheobronchomalacia, Pulmo... ORPHA:70589
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Abnormal metaphysis morphology, Joint stiffness, Bo... ORPHA:1306
Tarp Syndrome
Pectus excavatum, Hand polydactyly, Scoliosis, Hypoplasia of proximal radius, Postaxial polydacty... ORPHA:2886
Diaphanospondylodysostosis
Thoracic hypoplasia, Tracheomalacia, Inguinal hernia, Short neck, Respiratory insufficiency, Miss... OMIM:608022
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Long clavicles, Rhizomelic leg shortening, Abnormal acetabulum morphology, Proximal femoral metap... ORPHA:397715
Contractural Arachnodactyly, Congenital
Scoliosis, Congenital finger flexion contractures, Limited knee extension, Kyphoscoliosis, Campto... OMIM:121050
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Pectus carinatum, Hip dysplasia, Kyphosis, Facial myokymia OMIM:620007
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Kyphosis, Neonatal death, Flexion contracture, Dystonia OMIM:618237
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Thin ribs, Platyspondyly, Metaphyse... OMIM:300863
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Facial diplegia, Hypomimic face, Respiratory insufficiency, N... OMIM:618186
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Metaphys... ORPHA:93315
Dyggve-Melchior-Clausen Disease
Horizontal inferior border of scapula, Respiratory insufficiency due to muscle weakness, Rhizomel... ORPHA:239
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Thoracic hypoplasia, Horizontal ribs, Scoliosis, Lateral clavicle hook, Absent... OMIM:613091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Thoracic dysplasia, Short distal phalanx of finger, Polydactyly, Postaxial polydactyly, Flat acet... OMIM:614091
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F... ORPHA:93360
Gm1-Gangliosidosis, Type Iii
Scoliosis, Skeletal muscle atrophy, Hypoplastic acetabulae, Kyphosis, Platyspondyly, Flared iliac... OMIM:230650
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pulmo... OMIM:616866
Short-Rib Thoracic Dysplasia 12
Short finger, Thoracic dysplasia, Horizontal ribs, Inguinal hernia, Short neck, Limb undergrowth,... OMIM:269860
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Short ribs, Broad ribs, Abnormal rib morphology, Respiratory dis... ORPHA:2519
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Increased susceptibility to fractures, Intrinsic hand muscle atrophy OMIM:304700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Pulmonary hypoplasia, Neonatal death, Stillbirth, Arthrogryposis multiplex congenita OMIM:236500
Alg9-Cdg
Lipodystrophy, Torticollis, Hitchhiker thumb, Short neck, Rhizomelia, Omphalocele, Broad ischia, ... ORPHA:79328
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... OMIM:600081
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... ORPHA:210110
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Long clavicles, Short tibia, Abnormality of the costochondral junction, Undulate ribs,... ORPHA:96334
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Short rib... OMIM:225500
Congenital Myopathy 3 With Rigid Spine
Scoliosis, Minicore myopathy, Restrictive ventilatory defect, Type 1 muscle fiber predominance, M... OMIM:602771
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Rhizomelia, Abnormal epi... ORPHA:93267
Schneckenbecken Dysplasia
Hypoplastic ilia, Abnormal metaphysis morphology, Lateral clavicle hook, Short neck, Short ribs, ... ORPHA:3144
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short thorax, Metaphyseal cupping, Short ribs, Rhizomelia, Short ... ORPHA:50945
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
Osteogenesis Imperfecta, Type Xi
Scoliosis, Vertebral wedging, Vertebral compression fracture, Osteopenia, Protrusio acetabuli, Jo... OMIM:610968
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu varum, Bone pain, Osteoarthritis, Abnormal epiphysis morphology, Irregular ... ORPHA:1822
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Death in infancy, Hemivertebra... OMIM:277300
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Osteogenesis Imperfecta, Type Vi
Vertebral compression fracture, Protrusio acetabuli, Beaking of vertebral bodies, Joint laxity, I... OMIM:613982
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing OMIM:615066
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Scoliosis, Osteoporosis, Bowing of the arm, Micrognathia, Pectus carina... OMIM:613849
Dominant Beta-Thalassemia
Jaundice, Dyspnea, Osteoporosis, Hypoplasia of the musculature, Genu valgum, Bowing of the long b... ORPHA:231226
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Micromelia, Short palm, Limitation of joint mobility, Flared, irregular rib ends, ... ORPHA:168555
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Kyphosis, Carpal osteolysis OMIM:277950
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Respiratory in... OMIM:615633
Wrinkly Skin Syndrome
Pectus excavatum, Scoliosis, Congenital hip dislocation, Palmoplantar cutis laxa, Inguinal hernia... OMIM:278250
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Sh... OMIM:304120
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Inguinal hernia, Short neck, Short ribs, Mi... OMIM:271520
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Inguinal hernia, Flattened epiphysis, Advanced ossification of carpal bones, Accelerat... OMIM:618363
Turnpenny-Fry Syndrome
Pectus excavatum, Torticollis, Lumbar hyperlordosis, Long thorax, Overlapping toe, Thoracic kypho... OMIM:618371
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Camptodactyly, Pectus excavatum, Coat hanger sign of ribs, Thoraci... ORPHA:254528
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Ventilator dependence with inability to wean, Spinal muscular atrophy, D... OMIM:604320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Limited elbow extension, Lumbar hyperlordosis, Short m... OMIM:271650
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Irregular epiphyses, Metaphyseal irregularity, Iliac crest s... OMIM:607326
Pycnodysostosis
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... ORPHA:763
Campomelic Dysplasia
Tracheomalacia, Scoliosis, Hip dislocation, Short neck, Hypoplastic inferior ilia, Bowing of the ... ORPHA:140
Triosephosphate Isomerase Deficiency
Jaundice, Death in adolescence, Myopathy, Respiratory insufficiency, Respiratory insufficiency du... OMIM:615512
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Skeletal muscle atr... OMIM:245400
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Weismann-Netter Syndrome
Scoliosis, Lateral femoral bowing, Kyphosis, Horizontal sacrum, Anterior tibial bowing, Fibular b... OMIM:112350
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal m... ORPHA:2484
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Scoliosis, Myopathy, Respiratory insufficiency, Skeletal... OMIM:310440
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Pectus excavatum, Thoracic hypoplasia, Lumbar hyperlo... OMIM:608728
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Distal amyotrophy, Tapered finger, Tremor, Intention tremor, Respiratory failure, Flex... OMIM:616505
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteomyelitis, ... OMIM:166260
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal hip bone morphology, Abnormal muscle... ORPHA:3068
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Multiple small vert... OMIM:619795
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Flattened epiphysis, Thin ribs, Flared i... OMIM:300232
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Congenital laryngeal stridor, 11 pairs of ribs, Respiratory insuff... OMIM:618356
Arthrogryposis Multiplex Congenita 5
Scoliosis, Hip dislocation, Inguinal hernia, Rocker bottom foot, 11 pairs of ribs, Kyphoscoliosis... OMIM:618947
Ulbright-Hodes Syndrome
Short humerus, Abnormal forearm bone morphology, Short neck, Phocomelia, Short ribs, Hypoplasia o... ORPHA:3404
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Thoracic dysplasia, Lateral clavicle hook, Preaxial polydactyly, Postaxial polydactyly, Short rib... OMIM:615503
Neu-Laxova Syndrome
Rickets, Scoliosis, Arthrogryposis multiplex congenita, Muscular dystrophy, Osteoporosis, Skeleta... ORPHA:2671
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hyperflexibility, Re... ORPHA:2772
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Short neck, Missing ribs, Micrognathia, Omphalocele, Abnormal rib morphology, Abnormal... ORPHA:1834
Congenital Myopathy 19
Scoliosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Skeletal ... OMIM:618578
Cole-Carpenter Syndrome
Scoliosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Abnormal dental... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Scoliosis, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Platy... OMIM:184250
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failure OMIM:618328
Cleidocranial Dysplasia
Scoliosis, Sleep apnea, Decreased skull ossification, Brachydactyly, Coxa vara, Down-sloping shou... ORPHA:1452
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Myopathy, Kyphosis, Micrognathia, Generalized limb muscle atrophy ORPHA:2598
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Respiratory insufficien... ORPHA:1120
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Scoliosis, Vertebral fusion, Polydactyly, Short ribs, Vertebral wedging, ... OMIM:109400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Shield chest, Irregular epiphyses, Hump-sh... OMIM:313400
Marden-Walker Syndrome
Camptodactyly of finger, Scoliosis, Pectus excavatum, Joint stiffness, Muscular dystrophy, Skelet... ORPHA:2461
Beta-Thalassemia Major
Jaundice, Dyspnea, Osteoporosis, Hypoplasia of the musculature, Genu valgum, Bowing of the long b... ORPHA:231214
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Short distal phalanx of finger, Avascular necrosis, Abnormal metaphys... ORPHA:53
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Delayed proximal fem... OMIM:271640
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Joint stiffness, Acrocyanosis ORPHA:2400
Rin2 Syndrome
Scoliosis, Bruising susceptibility, Umbilical hernia, Increased susceptibility to fractures, Join... ORPHA:217335
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Joint stiffness, Kyphosis, Pectus carinatum, Arachnodactyly, Delayed skeletal maturation ORPHA:1548
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis, Pathologic fracture OMIM:607278
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Death in early adulthood, Scoliosis, Hypoplastic scapulae, Kyphosis, Generalized dy... ORPHA:79107
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Repeated pneumothoraces, Scoliosis, Hip dysplasia, Kyphos... ORPHA:536467
Mucopolysaccharidosis, Type Iva
Grayish enamel, Scoliosis, Inguinal hernia, Cervical subluxation, Epiphyseal deformities of tubul... OMIM:253000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Restrictive ventilato... OMIM:607155
Avian Influenza
Rhabdomyolysis, Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductiv... ORPHA:454836
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Scol... ORPHA:1520
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Flexion contracture, Abnormal ... OMIM:263210
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Scoliosis, Kyphosis, Tapered finger, Pectus carinatum ORPHA:276630
Holt-Oram Syndrome
Down-sloping shoulders, Pectus excavatum, Scoliosis, Abnormality of the humerus, Absent thumb, Jo... ORPHA:392
Tonne-Kalscheuer Syndrome
Tremor, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:300978
Achondroplasia
Rhizomelia, Hypoxemia, Bowing of the legs, Brachydactyly, Abnormal iliac wing morphology, Hip joi... ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Hip dislocation, Kyphosis, Small hand, Short foot OMIM:300434
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Scoliosis, Pectus excavatum, Distal arthrogryposis, Limited wrist exten... OMIM:108145
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Ovoid vertebral bodies, Metaphyseal cupping, Metaphysea... OMIM:608940
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Inguinal hernia, Rhizomelia, S... OMIM:245600
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Thin ribs, Death in infancy, Congenital contracture, Centrally nucleat... OMIM:615368
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Inguinal hernia, Hip dysplasia, Generalized joint laxity, Increased susceptibility to ... ORPHA:536471
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, Respirato... ORPHA:169189
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Muscle fiber hyaline bodies, Scoliosis, Proximal amyotrophy, Restrictiv... OMIM:255160
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Respiratory insufficiency, Type 1 muscle fiber predominance, Type ... OMIM:160565
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Proximal placement of thumb, Short sternum, Clinodactyly of the 4th ... OMIM:620113
3M Syndrome
Scoliosis, Thin ribs, Rocker bottom foot, Micromelia, Hypoplastic pelvis, Delayed skeletal matura... ORPHA:2616
Meier-Gorlin Syndrome 3
Patellar aplasia, Tracheomalacia, Dyspnea, Genu varum, Short thorax, Short ribs, Patellar hypopla... OMIM:613803
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Scoliosis, Grayish enamel, Abnormal metaphysis morphology, Short ne... ORPHA:582
Zimmermann-Laband Syndrome 3
Clinodactyly, Short distal phalanx of finger, Long thumb, Kyphosis, Absent distal phalanges, Long... OMIM:618658
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... OMIM:241530
Crisponi Syndrome
Camptodactyly of finger, Scoliosis, Respiratory insufficiency, Death in infancy, Kyphosis, Limita... ORPHA:1545
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Myopathy, Generalized lipodystrophy, Reduced intraabdominal adipose tissue, Tremor... ORPHA:363400
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Camptodactyly, Scoliosis, Hip dislocation, Congenital foot contrac... OMIM:314580
Osteogenesis Imperfecta, Type X
Death in childhood, Scoliosis, Inguinal hernia, Generalized joint laxity, Rhizomelia, Thin ribs, ... OMIM:613848
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Scoliosis, Osteolysis, Osteolytic defects of the distal phalange... OMIM:614008
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Missing ribs... ORPHA:2769
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:723
Cole-Carpenter Syndrome 2
Coronal craniosynostosis, Pectus excavatum, Thin ribs, Kyphosis, Osteopenia, Platyspondyly, Lambd... OMIM:616294
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Scoliosis, Osteoporosis, Kyphosis, Intention tremor, Abnormality of the ... ORPHA:48431
Achondrogenesis Type 1B
Short thorax, Short neck, Umbilical hernia, Femoral hernia, Abnormal enchondral ossification, Abn... ORPHA:93298
Mitochondrial Dna Depletion Syndrome 11
Dyspnea, Proximal amyotrophy, Respiratory insufficiency, Kyphosis, Spinal rigidity, Facial palsy,... OMIM:615084
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Pathologic fracture, Limitation of joint mobility, Upper limb ... ORPHA:166277
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Micrognathia, Abnormality of the gle... ORPHA:2097
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure, Micrognathia OMIM:607598
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure, Congenital lary... ORPHA:2254
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Short neck, Short ribs, Postaxial polydactyly, Micromelia, Aplastic clavicl... OMIM:616546
Acrorenal-Mandibular Syndrome
Hip dislocation, Thin ribs, Toe syndactyly, Hypoplasia of the radius, Kyphoscoliosis, Rudimentary... OMIM:200980
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Micrognathia ORPHA:1703
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Respiratory insufficiency, Muscular dystrophy, Scapular winging, C... OMIM:612999
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs, Pedal edema, Edema OMIM:152800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Lateral clavicle hook, Long thorax, Short neck, Preaxial polydactyly, Short ribs... OMIM:617925
Mucolipidosis Iii Gamma
Scoliosis, Joint stiffness, Short neck, Kyphosis, Abnormal rib cage morphology, Flared iliac wing... OMIM:252605
Juvenile Paget Disease
Osteoporosis, Coarse metaphyseal trabecularization, Pectus carinatum, Abnormal clavicle morpholog... ORPHA:2801
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Butterfly vertebrae, Short ribs, Rhizomelia, Short tibia, Short femur, Respiratory... OMIM:607143
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Hump-shaped mound of bone ... ORPHA:93284
Caudal Regression Syndrome
Abnormal iliac wing morphology, Scoliosis, Joint stiffness, Decreased muscle mass, Missing ribs, ... ORPHA:3027
Hereditary Sensory And Autonomic Neuropathy Type 1
Pathologic fracture, Poor wound healing, Distal amyotrophy, Cough, Limb pain, Osteomyelitis, Foot... ORPHA:36386
Hypocalcemic Vitamin D-Dependent Rickets
Rachitic rosary, Enlargement of the costochondral junction, Rickets, Thin bony cortex, Genu varum... ORPHA:289157
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Respiratory insufficiency, Stillbirth, Res... OMIM:276950
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Scoliosis, Skeletal muscle hypertrophy, Kyphosis ORPHA:99014
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... OMIM:264700
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Aspiration, Cough, Cyan... ORPHA:2004
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, Lumbar hyperlordosis, Congenital hip dislocation, Respiratory insufficiency, Respirato... OMIM:255310
Cutis Laxa-Marfanoid Syndrome
Hip dislocation, Emphysema, Limitation of joint mobility, Congenital diaphragmatic hernia, Flexio... ORPHA:171719
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Choreoathetosis, Dystonia ORPHA:71277
Cdags Syndrome
Coronal craniosynostosis, Short ribs, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Sag... OMIM:603116
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing ORPHA:137935
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Atelosteogenesis, Type I
Clubbing, Long clavicles, Short metatarsal, Rhizomelia, Multinucleated giant chondrocytes in epip... OMIM:108720
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Pectus excavatum, Scoliosis, Congenital hip dislocation, Respiratory failure requiring assisted v... ORPHA:496641
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Split hand OMIM:610127
Brachyolmia Type 3
Scoliosis, Short neck, Kyphosis, Platyspondyly, Short femoral neck, Proximal femoral metaphyseal ... OMIM:113500
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Scoliosis, Inguinal hernia, Short greater sciatic notch, Six lumb... OMIM:312870
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Decreased muscle mass, T... OMIM:616507
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Pathologic fracture, Multiple bony cystic lesions, Wrist pai... ORPHA:314652
Infantile Systemic Hyalinosis
Camptodactyly of finger, Joint stiffness, Short neck, Telangiectasia of the skin, Osteoporosis, O... ORPHA:2176
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Noonan Syndrome 12
11 pairs of ribs, Spinal canal stenosis, Pectus excavatum, Proximal placement of thumb OMIM:618624
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Dystonia, Apnea OMIM:616277
Restrictive Dermopathy 2
Short clavicles, Respiratory distress, Microretrognathia, Cyanosis, Overtubulated long bones OMIM:619793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Kyphosis, Proximal muscle weakness in upper limbs, Inter... OMIM:618138
Shprintzen-Goldberg Syndrome
Craniosynostosis, Camptodactyly of finger, Scoliosis, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:2462
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Hemivertebrae, Narrow chest, 11 pairs of ribs, Vertebral segmentation defect OMIM:617661
Stuve-Wiedemann Syndrome 1
Scoliosis, Clubbing, Pathologic fracture, Contracture of the proximal interphalangeal joint of th... OMIM:601559
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Inguinal ... ORPHA:1988
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Embryonal rhabdomyosarcoma, Micrognathia, Short neck OMIM:257300
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Increased spinal bone density, Recurrent fractures ORPHA:329475
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Osteogenesis Imperfecta
Scoliosis, Abnormal long bone morphology, Abnormal cortical bone morphology, Inguinal hernia, Rhi... ORPHA:666
Thanatophoric Dysplasia
Respiratory insufficiency, Pulmonary hypoplasia, Kyphosis, Abnormal sacroiliac joint morphology, ... ORPHA:2655
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Osteoporosis, Abnormal femoral neck/head morphology, Osteopenia, Crumpled l... ORPHA:2788
Odontochondrodysplasia 1
Recurrent respiratory infections, Scoliosis, Coronal cleft vertebrae, Pulmonary hypoplasia, Death... OMIM:184260
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Chronic rhin... OMIM:608647
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormal hip bone morphology, Kyphosis, Abnormal rib morphology, Ab... ORPHA:2522
Snakebite Envenomation