| 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 |
|
