Lethal Congenital Contracture Syndrome 1 |
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Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Edema, Abnormal thorax morp... |
OMIM:253310 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Lethal Congenital Contracture Syndrome 3 |
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Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Sprengel Deformity |
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Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Poland Syndrome |
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Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
Sprengel Deformity |
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Torticollis, Shoulder muscle hypoplasia, Short neck, Abnormal shoulder morphology, Abnormality of... |
ORPHA:3181 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Hand muscle atrophy, Os odontoideum, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-... |
OMIM:600561 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Spinal Muscular Atrophy, Type I |
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Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am... |
OMIM:253300 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis... |
OMIM:618393 |
Congenital Muscular Dystrophy, Ullrich Type |
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Short neck, Micrognathia, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... |
ORPHA:75840 |
Scapuloperoneal Spinal Muscular Atrophy |
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Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
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Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... |
OMIM:618155 |
Axial Spondylometaphyseal Dysplasia |
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Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Hernia, Anterior Diaphragmatic |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Thanatophoric Dysplasia, Type Ii |
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Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Thoracomelic Dysplasia |
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Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyp... |
ORPHA:1803 |
Dysosteosclerosis |
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Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Coarse metaphyseal trabecularization, Neonatal respiratory distress, Increased intervertebral spa... |
OMIM:618961 |
Achondrogenesis, Type Ib |
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Inguinal hernia, Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow ches... |
OMIM:600972 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Scheuermann Disease |
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Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Kyphomelic Dysplasia |
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Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respiratory insu... |
OMIM:611890 |
Brachyolmia Type 1, Hobaek Type |
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Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Frontometaphyseal Dysplasia 1 |
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Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ... |
OMIM:305620 |
Achondrogenesis Type 2 |
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Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
Pontocerebellar Hypoplasia, Type 1C |
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Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... |
OMIM:151210 |
Perching Syndrome |
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Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
Thoracopelvic Dysostosis |
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Neonatal respiratory distress, Short ribs |
OMIM:187770 |
Bethlem Myopathy 2 |
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Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ... |
OMIM:616471 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
Congenital Myopathy 22B, Severe Fetal |
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Respiratory distress, Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Generali... |
OMIM:620369 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Schneckenbecken Dysplasia |
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Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Marinesco-Sjögren Syndrome |
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Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Intellectual Developmental Disorder, X-Linked 82 |
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Kyphosis, Scoliosis |
OMIM:300518 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
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Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Congenital Myopathy 14 |
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Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Thoracolaryngopelvic Dysplasia |
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Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Pectus carinatum, Radiou... |
ORPHA:3268 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Postsynaptic Congenital Myasthenic Syndromes |
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Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Reduced vital capacity, Facial palsy,... |
ORPHA:98913 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ... |
OMIM:613320 |
Congenital Patella Dislocation |
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Aplasia/Hypoplasia of the quadriceps, Genu valgum, Limited knee extension, Knee flexion contracture |
ORPHA:295036 |
Three M Syndrome 1 |
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Scapular winging, Neonatal respiratory distress, Short neck, Pectus excavatum, Increased vertebra... |
OMIM:273750 |
Congenital Fiber-Type Disproportion Myopathy |
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Congenital hip dislocation, Micrognathia, Flexion contracture, Knee flexion contracture, Aspirati... |
ORPHA:2020 |
Thoracic Dysostosis, Isolated |
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Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Fibrochondrogenesis 2 |
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Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Upper limb muscle weakness, ... |
ORPHA:90117 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
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Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Intermediate Nemaline Myopathy |
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Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171433 |
Nemaline Myopathy 8 |
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Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Congenital Diaphragmatic Hernia |
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Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Thanatophoric Dysplasia, Type I |
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Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
Bone Dysplasia, Lethal Holmgren Type |
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Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Abnormal fe... |
ORPHA:1842 |
Thoracomelic Dysplasia |
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Bell-shaped thorax, Short ribs |
OMIM:273740 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
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Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
Fibrochondrogenesis 1 |
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Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Increased variability... |
OMIM:614096 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... |
OMIM:620076 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decre... |
OMIM:616897 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... |
ORPHA:1488 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Syndactyly, Omphalocele, Thoracic hypoplasia, Postaxial polydactyly, Microm... |
OMIM:617895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Neuralgic Amyotrophy |
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Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly |
ORPHA:2901 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Fibrochondrogenesis |
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Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Scarf Syndrome |
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Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo... |
ORPHA:3134 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
Diaphanospondylodysostosis |
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Respiratory distress, Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone... |
ORPHA:66637 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Lethal Congenital Contracture Syndrome Type 1 |
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Skeletal muscle atrophy, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobil... |
ORPHA:1486 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... |
ORPHA:2790 |
Hyperekplexia 4 |
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Inguinal hernia, Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis,... |
OMIM:618011 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Renal Hypodysplasia/Aplasia 4 |
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Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Hypophosphatasia, Infantile |
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Death in infancy, Apnea, Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, In... |
OMIM:241500 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel... |
ORPHA:178148 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Broad long bones, Miscarriage, Hypoplastic ischia, Short neck, Bowing of the legs, Hypoplastic il... |
ORPHA:1865 |
Heart Defects-Limb Shortening Syndrome |
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Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis... |
ORPHA:1354 |
Frontometaphyseal Dysplasia |
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Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
Severe Congenital Nemaline Myopathy |
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Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ... |
ORPHA:171430 |
Lethal Congenital Contracture Syndrome 11 |
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Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Scoliosis, Low... |
OMIM:617087 |
Monosomy 5P |
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Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Short neck, Small han... |
ORPHA:281 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... |
OMIM:609223 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Down-... |
OMIM:606071 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Reduced forced vital capa... |
OMIM:620249 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Kyphoscoliosis, Flexion contra... |
OMIM:609285 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidi... |
ORPHA:2257 |
Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Respiratory insuf... |
OMIM:605355 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality ... |
ORPHA:97244 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failur... |
ORPHA:2590 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... |
OMIM:224400 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Polyhydramnios, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal... |
OMIM:616287 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Tapered fi... |
OMIM:254940 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... |
OMIM:271225 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:312150 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse... |
OMIM:119600 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1... |
ORPHA:98905 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hi... |
OMIM:618291 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased susceptibility to frac... |
ORPHA:52430 |
Congenital Myopathy 21 With Early Respiratory Failure |
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Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, EMG: ... |
OMIM:620326 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger |
ORPHA:2631 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se... |
OMIM:259420 |
Bruck Syndrome 2 |
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Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Kn... |
OMIM:609220 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Nonproducti... |
ORPHA:2302 |
Multiple Pterygium Syndrome, Lethal Type |
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Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:253290 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... |
OMIM:616531 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Braddock Syndrome |
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Congenital muscular torticollis, Neonatal respiratory distress, Short neck, Pectus excavatum, Mis... |
ORPHA:52047 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
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Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Interstitial Pneumonitis, Desquamative, Familial |
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Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Bruck Syndrome |
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Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato... |
ORPHA:2771 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Knee flexion contract... |
OMIM:271665 |
Pyknoachondrogenesis |
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Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Achondrogenesis Type 1A |
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Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Short neck, Micrognathia... |
ORPHA:93299 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Respiratory distress, Myopathy, Cyanosis |
ORPHA:91130 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
3Mc Syndrome 2 |
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Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle agenesis, L... |
OMIM:265050 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Micromelia, Ulnar bowing,... |
OMIM:617866 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated skeletal maturation, D... |
OMIM:602535 |
Myopathic Ehlers-Danlos Syndrome |
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Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Seckel Syndrome 4 |
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11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Absence of pectoralis ... |
OMIM:161200 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Abnormal rib morphology |
ORPHA:2435 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... |
OMIM:615349 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Pectus excavatum, Multiple prenatal fractures, Pectus carinatum, Decreased calvarial ossification... |
OMIM:259410 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Skeletal muscle... |
OMIM:255710 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... |
ORPHA:2759 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... |
OMIM:620265 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Tremor, Distal amyotrophy, Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Respiratory insuffici... |
OMIM:610687 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectu... |
ORPHA:64755 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Respiratory i... |
ORPHA:90103 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Abnormal for... |
ORPHA:628 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
X-Linked Intellectual Disability, Seemanova Type |
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Skeletal muscle atrophy, Hypoplasia of the musculature |
ORPHA:85323 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid foss... |
OMIM:224690 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Polyhydramnios, Hypoplasia of the musculature, Micrognathia |
OMIM:225790 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
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Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Respiratory insufficiency, Pr... |
OMIM:617404 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Umbilical hernia, Short sternum, Diaphragmatic even... |
OMIM:222448 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Tremor, Kyphosis, Dyspnea, Short thorax, Flexion contra... |
ORPHA:87876 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bon... |
ORPHA:73 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,... |
OMIM:254090 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira... |
ORPHA:436 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Inguinal hernia, Short neck, Me... |
OMIM:616266 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Abno... |
OMIM:610967 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Jaundice, Early ossification of ... |
OMIM:208500 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
Typical Nemaline Myopathy |
|
Short neck, Micrognathia, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type 1 ... |
ORPHA:171436 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee... |
OMIM:600920 |
Momo Syndrome |
|
Delayed skeletal maturation, Short sternum, Cutis marmorata, Short neck |
OMIM:157980 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Stiff neck, Hypoplas... |
ORPHA:2912 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... |
OMIM:311900 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Prieto Syndrome |
|
11 pairs of ribs, Inguinal hernia, Coxa valga, Osteoporosis, Radial deviation of finger, Clinodac... |
OMIM:309610 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... |
OMIM:620278 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micromelia, Micrognathi... |
OMIM:122470 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Geroderma Osteodysplastica |
|
Prematurely aged appearance, Recurrent fractures, Vertebral compression fracture, Hip dislocation... |
ORPHA:2078 |
Osteopetrosis, Autosomal Dominant 2 |
|
Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplat... |
OMIM:166600 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification o... |
OMIM:618392 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper... |
ORPHA:2839 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Momo Syndrome |
|
Cutis marmorata, Short neck, Femoral bowing, Short sternum, Abnormal bone ossification, Congenita... |
ORPHA:2563 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... |
ORPHA:98914 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Recurrent fractures, Narrow chest |
ORPHA:417 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent frac... |
OMIM:618188 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... |
ORPHA:2345 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, Ulnar ... |
ORPHA:1101 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Mycetoma |
|
Back pain, Prominent superficial veins, Osteomyelitis, Abnormal thorax morphology, Bone cyst, Ost... |
ORPHA:2583 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Fla... |
ORPHA:1423 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... |
ORPHA:2847 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... |
ORPHA:93351 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia |
ORPHA:1832 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Progero... |
OMIM:231070 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Pectus carinatum, Kyphosis, Hip dysplasia, Facial myokymia |
OMIM:620007 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m... |
OMIM:310200 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Central Core Disease |
|
Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocat... |
ORPHA:597 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Respiratory insufficiency, Missing ribs |
ORPHA:1759 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Re... |
OMIM:616165 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,... |
ORPHA:3409 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Respiratory insufficiency, Generalized amyo... |
ORPHA:994 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... |
ORPHA:2092 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... |
OMIM:255200 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia,... |
OMIM:614898 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared... |
OMIM:616300 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... |
ORPHA:397715 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnormal thorax morpholo... |
ORPHA:93160 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, Hypoplastic... |
ORPHA:93315 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pect... |
ORPHA:2886 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy, Dystonia, Neonatal death |
OMIM:618237 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Pectus carinatum, Wrist flexion c... |
OMIM:121050 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Increased susceptibility to fractures, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Respiratory insuff... |
OMIM:618186 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... |
OMIM:614091 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Flexion contracture, Increased variabilit... |
OMIM:616866 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Sh... |
OMIM:269860 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterio... |
OMIM:230650 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... |
ORPHA:96334 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... |
OMIM:610968 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... |
ORPHA:3144 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity... |
OMIM:602771 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
Alg9-Cdg |
|
Microretrognathia, Omphalocele, Torticollis, Rhizomelia, Lipodystrophy, Hypoplasia of the muscula... |
ORPHA:79328 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... |
OMIM:613849 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Genu va... |
ORPHA:231226 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplates, Amelogenesis imperf... |
OMIM:618363 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... |
OMIM:615633 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Pectus ex... |
ORPHA:254528 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal hernia, Hyp... |
OMIM:278250 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn... |
OMIM:618356 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal... |
OMIM:604320 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Dystonia, Tremor, Kyphosis, Jaun... |
OMIM:615512 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Short... |
ORPHA:2484 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tapered finger, Tremor, Flexion contracture, Distal amyotrophy, Respiratory failure, Scoliosis, I... |
OMIM:616505 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... |
OMIM:245400 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
Arthrogryposis Multiplex Congenita 5 |
|
Short neck, Micrognathia, Flexion contracture, Hand tremor, Death in infancy, Neonatal respirator... |
OMIM:618947 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial syn... |
ORPHA:3404 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Micrognathia, Generalized osteosclerosis, Narrow chest, Hypoplastic... |
ORPHA:763 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract... |
ORPHA:2050 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia, Abnormal ri... |
ORPHA:1834 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi... |
OMIM:109400 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Micrognathia, Flexion contracture,... |
ORPHA:2671 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:236500 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis |
ORPHA:2598 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... |
OMIM:271640 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Overlapping toe, Ta... |
OMIM:618371 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures |
OMIM:619884 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Pectus carinatum, Scoliosis |
ORPHA:1548 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tonne-Kalscheuer Syndrome |
|
Tremor, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:300978 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum,... |
ORPHA:2461 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Genu va... |
ORPHA:231214 |
Rin2 Syndrome |
|
Increased susceptibility to fractures, Abnormal sternum morphology, Scoliosis, Umbilical hernia, ... |
ORPHA:217335 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micro... |
ORPHA:79107 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis |
ORPHA:276630 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Abnormal lung lobation, Pulmona... |
OMIM:263210 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... |
ORPHA:454836 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Accelerated skeletal matur... |
OMIM:245600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Cleidocranial Dysplasia |
|
Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ... |
ORPHA:1452 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Short sternum, Clinodactyly of the 5th finger, Clinodactyly of the 4... |
OMIM:620113 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume ... |
OMIM:108145 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... |
OMIM:615368 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys... |
OMIM:616294 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Flexion contracture,... |
ORPHA:536471 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... |
ORPHA:2769 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ... |
ORPHA:3027 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:241530 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Prominent superficial veins, Lipoatrophy, Progeroid facial appearance, Microgn... |
OMIM:614008 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis,... |
ORPHA:582 |
Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Acute rhabdomyolysis, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, A... |
ORPHA:48431 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Proximal placement of thumb, Short ... |
OMIM:314580 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Tremor, Generalized l... |
ORPHA:363400 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog... |
ORPHA:2097 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Short tho... |
ORPHA:93298 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Edema, Pedal edema |
OMIM:152800 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Congenital diaphragmatic hernia, Short neck, Postaxial polydactyly, Micromelia... |
OMIM:616546 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... |
OMIM:200980 |
Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis... |
ORPHA:2801 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Ragged-red musc... |
OMIM:615084 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... |
OMIM:617925 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Pectus cari... |
OMIM:252605 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:607598 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radiu... |
OMIM:607143 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th... |
OMIM:276950 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Poor wound healing, Limb pain, Distal amyotrophy, Cough, Pathologic fracture, Foot... |
ORPHA:36386 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... |
ORPHA:289157 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Tremor, Scoliosis |
ORPHA:99014 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Limitation... |
ORPHA:171719 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... |
OMIM:108720 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Abnormal skeletal muscle morphology, Wrist pain, Pathologic fractur... |
ORPHA:314652 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog... |
OMIM:616507 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Proximal placement of thumb |
OMIM:618624 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Central apnea, Cyanosis, Dystonia |
ORPHA:71277 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Short sternum, Embryonal rhabdomyosarcoma, Short neck |
OMIM:257300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Pectus carinatum, Vertebral seg... |
OMIM:312870 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest |
OMIM:617661 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Short neck, Osteomal... |
ORPHA:2176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... |
OMIM:618138 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Dystonia |
OMIM:616277 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Congenital hip dislo... |
ORPHA:496641 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... |
OMIM:620351 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, A... |
ORPHA:2462 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib ... |
ORPHA:1988 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short t... |
OMIM:601559 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia... |
ORPHA:2522 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Serkal Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Rhabdomyolysis, Erythema, Respiratory failure, Muscle fiber necrosis, Resp... |
ORPHA:449285 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan... |
OMIM:184260 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Pulmona... |
ORPHA:2655 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Respiratory insufficiency, Verteb... |
ORPHA:1166 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Erythema, Recurrent pneumonia, Scoliosis, Join... |
OMIM:147060 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Short neck, Aplasia/Hypoplasia ... |
ORPHA:3309 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Acceler... |
ORPHA:380 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitati... |
ORPHA:3101 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Short neck, Micrognathia, Craniosynostosis, Kn... |
ORPHA:284417 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... |
ORPHA:1647 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Limited elbow extension, Short metatarsa... |
OMIM:180870 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G... |
ORPHA:583 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Short neck, Kyphosis, Delay... |
ORPHA:61 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,... |
OMIM:252500 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy |
ORPHA:1875 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Contractures of... |
ORPHA:96179 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Pulmonary hypoplasia, Scolio... |
OMIM:248700 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation |
ORPHA:85288 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili... |
OMIM:616470 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis,... |
ORPHA:258 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia... |
OMIM:620073 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Short neck, Micrognathia, Dyspnea, Hypoplasia of the radius, Ab... |
ORPHA:3015 |
Keppen-Lubinsky Syndrome |
|
Lipodystrophy, Progeroid facial appearance, Micrognathia, Dyspnea, Flexion contracture, Recurrent... |
ORPHA:435628 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Camptodactyly of finger,... |
OMIM:114300 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Alg3-Cdg |
|
Macroglossia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Dystonia |
ORPHA:79321 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irr... |
OMIM:618395 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... |
ORPHA:73230 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, ... |
OMIM:616482 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Micro... |
OMIM:251230 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,... |
ORPHA:371428 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Clinodactyly of the 5th finger... |
OMIM:135900 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... |
OMIM:300219 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Respiratory failure,... |
ORPHA:98755 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Tremor, Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal fo... |
ORPHA:812 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Lipoatrophy, Recurrent f... |
OMIM:601812 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Reduced bone mineral... |
ORPHA:561 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnorm... |
ORPHA:185 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Ky... |
OMIM:193700 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... |
OMIM:183900 |
Grange Syndrome |
|
Syndactyly, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Res... |
OMIM:601186 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature... |
ORPHA:899 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Delayed skeletal maturatio... |
OMIM:617877 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Aplasia of the left hemidiaphragm, ... |
ORPHA:2437 |
Choanal Atresia |
|
Respiratory distress, Subglottic stenosis, Recurrent respiratory infections, Cyanosis, Upper airw... |
ORPHA:137914 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... |
OMIM:608978 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... |
ORPHA:444013 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... |
OMIM:618019 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Apnea, Flexion cont... |
OMIM:617301 |
Cranioectodermal Dysplasia 1 |
|
Ectodermal dysplasia, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short to... |
OMIM:218330 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Micrognathia, Dela... |
OMIM:210600 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... |
OMIM:617604 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Micro... |
OMIM:114290 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Flexion contracture, Pulmonary hypoplasia, Pulmonary arterial hy... |
OMIM:608149 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... |
OMIM:620296 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... |
OMIM:605711 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Recurrent fractures, Death in childhood |
OMIM:620368 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Lipoatrophy, Micrognathia, Kyphosis, Reduced bone mineral density, P... |
ORPHA:2617 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excav... |
OMIM:613610 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Facial palsy, Osteopetrosis, Sclerotic verte... |
OMIM:611490 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th me... |
ORPHA:881 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Osteolysis involving tarsal bones, Met... |
OMIM:166300 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna |
OMIM:276822 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... |
OMIM:248800 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fing... |
OMIM:609128 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... |
ORPHA:3242 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Short middle phalanx of finger, Scol... |
OMIM:613823 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu... |
ORPHA:90354 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Pulmonary hypoplasia, Increased variab... |
OMIM:617022 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex... |
ORPHA:2324 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Tracheomalacia, Micrognathia, Small hand, Respiratory insufficiency, Reduced... |
ORPHA:2108 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Bone pain, Synovitis, Increas... |
ORPHA:77297 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum,... |
OMIM:130070 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Scoliosis, Dystonia |
OMIM:616756 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis, Inspiratory stridor, Opisthotonus |
OMIM:207950 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Umbilical hern... |
ORPHA:2181 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Recurrent fractures, Poor wound healing, Reduced bone mineral density, Scoliosis... |
OMIM:619115 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Thoracolumbar scoliosis, Congenital d... |
OMIM:265000 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Kyphoscolios... |
OMIM:309583 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia, Anisospondyly |
OMIM:224410 |
Alg1-Cdg |
|
Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
3C Syndrome |
|
Finger syndactyly, Inguinal hernia, Death in infancy, Short neck, Missing ribs, Kyphosis, Microgn... |
ORPHA:7 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... |
ORPHA:93316 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept... |
OMIM:166200 |
Hereditary Methemoglobinemia |
|
Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia |
ORPHA:621 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Masa Syndrome |
|
Kyphosis, Adducted thumb, Hyperlordosis |
OMIM:303350 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulm... |
OMIM:619708 |
Ck Syndrome |
|
Micrognathia, Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig... |
OMIM:300831 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Pectus excavatum, Kyphosis, Increased nuchal translucency, Cervical ribs |
ORPHA:77300 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum... |
ORPHA:800 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Scoliosis |
OMIM:612530 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke... |
ORPHA:157215 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... |
ORPHA:438134 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Congenital hip dislocation, Progeroid facial appearance, Increased susceptibilit... |
ORPHA:357058 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Congenital diaphragmatic hernia |
OMIM:613630 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis |
OMIM:300676 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po... |
ORPHA:36 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Narrow chest, Respiratory failure |
ORPHA:1861 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Kyphosis, Pectus cari... |
OMIM:619797 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Hand tremor, Scoliosis, Head tremor, Limb muscle weakness, Lower limb muscle weakness |
OMIM:614409 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Opisthotonus, Pulmonary hypoplasia, Neonatal death, Arthrogryposis m... |
OMIM:608013 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Joint contracture of the 5th finger, Dystonia, Clinodactyly of the ... |
OMIM:614407 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Tremor, Oste... |
OMIM:612199 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand polyda... |
ORPHA:3098 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Abnormal respiratory system physio... |
ORPHA:505652 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Recurrent fractures, Pectus carinatum |
OMIM:618107 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1263 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger |
ORPHA:1194 |
Mcdonough Syndrome |
|
Micrognathia, Pectus excavatum, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, S... |
ORPHA:2471 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure |
ORPHA:168486 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Skeletal muscle atrophy, Broad toe, Diastasis recti, Short neck, Pectus excavat... |
ORPHA:488632 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Camptodactyly of finger, Aplasia/Hypoplas... |
ORPHA:2990 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Nonprod... |
ORPHA:980 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Missing ribs, Lumbar hemivertebrae, Neonatal death, Clinodactyly of the 5th finger |
OMIM:619859 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormal ... |
ORPHA:263463 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Scoliosis, Webbed neck, Pulmonary artery ... |
OMIM:618316 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pulmonary capillary ... |
ORPHA:199241 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth... |
OMIM:617143 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Platyspon... |
OMIM:619698 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap... |
OMIM:613177 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Myopathy, Kyphosis, Scoliosis |
OMIM:618234 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Micrognathia, Kyphosis, Congenital contracture, Umbilical hernia, Joint contract... |
ORPHA:352490 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Dyspnea, Rhabdomyolysis, Cardiorespirat... |
ORPHA:26791 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den... |
OMIM:112240 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ... |
OMIM:619184 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Respiratory failure, Camptodactyly, Clinodactyly |
OMIM:618804 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Cellulitis, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Micrognathia, Kyphosis, Umbilical hernia, Scoliosis, Clinodactyly of the 5th fin... |
OMIM:615834 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Pulmonary embolism, Pectus excavatum, Kyphosis, Joint stiffn... |
ORPHA:394 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary window, Coronal cleft vertebrae, Pulmonary arterial... |
OMIM:620025 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Skeletal muscle atrophy, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Tituba... |
ORPHA:280210 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... |
ORPHA:1163 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Camp... |
ORPHA:2215 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
Atelosteogenesis Type I |
|
Laryngeal stenosis, Laryngotracheal stenosis, Coronal cleft vertebrae, Platyspondyly, Pulmonary h... |
ORPHA:1190 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Respiratory insufficiency, Join... |
ORPHA:93274 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tach... |
ORPHA:60025 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis |
OMIM:615636 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Micrognathia, Hemivertebrae, Missing ribs |
OMIM:220210 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Facial palsy, Rocker bottom foot, Short neck, Kyphosis, Achil... |
OMIM:301041 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Asthma, Recurrent pneumonia, Bronchiectasis, Increased susceptibility to fractures, Scoliosis, Jo... |
OMIM:619752 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... |
ORPHA:90658 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis, Dehydration |
OMIM:602199 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Osteopenia, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Respiratory insufficiency, Myopathy, Distal arthrogryposis, Pulmonar... |
OMIM:618975 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Increased susceptibility to fractures, Opisthotonus, Aspiration pneumonia, ... |
ORPHA:216866 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h... |
OMIM:139210 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Triphalangeal thumb, Short t... |
OMIM:201170 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormality of the vertebral column, Pulmonary hypoplasia, Neonatal death, Abnorma... |
OMIM:314390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Joint laxity, Sandal gap, Tremor, Kyphosis, Small hand, Short foot,... |
OMIM:300354 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ... |
OMIM:300280 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Opisthotonus, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibilit... |
ORPHA:335 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Small hand, 2-3 to... |
ORPHA:284180 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Facial hypotonia, Coxa valga, Achilles tendon... |
ORPHA:404454 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... |
OMIM:606851 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Telangiectasia of the skin, Lipodystrophy, Microgna... |
OMIM:615381 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Tibial bowing, Congenital b... |
ORPHA:453510 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Distal Triplication 15Q |
|
Kyphosis, Flexion contracture, Pulmonary hypoplasia, Scoliosis, Camptodactyly |
ORPHA:314588 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... |
OMIM:260400 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice, Tapered finger |
OMIM:618512 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb |
ORPHA:50810 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Respiratory failure, Limb hypertonia |
OMIM:620327 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Cough, Joint hyperflexibility, ... |
ORPHA:2314 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Scoliosis |
ORPHA:1335 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia, Slender finger, General... |
ORPHA:251028 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Angioke... |
OMIM:230500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Recurrent fractures, Dyspnea, Tachypnea, Narrow chest, Metaphyseal irregularity |
OMIM:239200 |
Esophageal Atresia |
|
Respiratory distress, Subglottic stenosis, Recurrent respiratory infections, Cyanosis, Bronchitis... |
ORPHA:1199 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Tremor, Kyphosis, Small hand, Short foot, Pill-rolling... |
ORPHA:3095 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbil... |
OMIM:252900 |
Wilson Disease |
|
Back pain, Jaundice, Bone pain, Proximal muscle weakness in lower limbs, Arthritis, Pathologic fr... |
ORPHA:905 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture of the... |
OMIM:607015 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... |
ORPHA:1318 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... |
ORPHA:77259 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Craniofacial hyperostosis, Joint stiffness, Avascu... |
ORPHA:581 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Micrognathia, Hyperlordosis, Kyphosis, Scoliosi... |
OMIM:615761 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia |
OMIM:256000 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Kyphoscoliosis, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology,... |
ORPHA:96190 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Menkes Disease |
|
Bowing of the long bones, Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures,... |
ORPHA:565 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Rib fusion, Choreoathetosis, Han... |
ORPHA:261197 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Sandhoff Disease |
|
Kyphosis, Recurrent respiratory infections |
ORPHA:796 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphol... |
ORPHA:2916 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... |
ORPHA:2970 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... |
OMIM:613845 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,... |
ORPHA:2554 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis... |
ORPHA:1883 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Abnormality of the vertebral spinous processes, Dystonia, Prematurely... |
ORPHA:909 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Thickened cortex of long bones, Delayed skeletal maturation, Abnormal rib... |
ORPHA:488434 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona... |
OMIM:620014 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Pectus carinatum, Kyphosis, Dystonia, Limb hypertonia |
ORPHA:500180 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia |
ORPHA:70472 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morpho... |
ORPHA:94065 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Dystonia |
OMIM:617435 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Short n... |
OMIM:619879 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Prematurely aged appea... |
ORPHA:3342 |
Kagami-Ogata Syndrome |
|
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti... |
ORPHA:254519 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Rhabdomyolysis, Sudden episodic apnea, Cyanosis |
ORPHA:159 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Short foot, Scoliosis, D... |
OMIM:312750 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency |
OMIM:609015 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature |
OMIM:617239 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar... |
OMIM:619122 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... |
ORPHA:93473 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Tremor, Abnormal rib morp... |
ORPHA:667 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contr... |
ORPHA:1692 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Opi... |
ORPHA:508533 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio... |
OMIM:615547 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Facial palsy, Absent thumb, Absent... |
OMIM:607323 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... |
OMIM:608836 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Hand tremor, Painless fracture... |
OMIM:608654 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Short neck, Apl... |
ORPHA:2570 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Bone pain, Pathologic fracture, Pulmonary arterial hypertension, Vertebral co... |
OMIM:230800 |
Fucosidosis |
|
Decreased muscle mass, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascular ski... |
ORPHA:349 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... |
ORPHA:85184 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures, Chronic lung disease |
ORPHA:319487 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Delayed skeletal maturation, Small hand, Thin ribs, Short foot, S... |
OMIM:244460 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Dorsocervical fat pad, Osteoporosis, Proximal amyotrophy, Increased susceptibility to f... |
ORPHA:189427 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol... |
ORPHA:793 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Trisomy 1Q |
|
Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit... |
ORPHA:261344 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Polyhydramnios, Short neck, Kyphosis, Cone-shaped epiphyses ... |
ORPHA:420794 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Lim... |
ORPHA:96061 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Hernia, Beaking o... |
OMIM:252930 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus |
OMIM:250800 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Micrognathia, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, Synost... |
ORPHA:3191 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocat... |
OMIM:182212 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Urticaria, Scoliosis |
ORPHA:816 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Genitopatellar Syndrome |
|
Hip contracture, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex ... |
ORPHA:85201 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl... |
ORPHA:50 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Cutis marmorata, Pectus excavatum, K... |
OMIM:617602 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthr... |
OMIM:108300 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Tremor, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Death in childhood,... |
OMIM:610505 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Cutis marmorata, Eosinophilia, Recurrent intrapulmonary hemorrhage, Abnormal... |
ORPHA:183 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Broad femoral neck, Micro... |
OMIM:611209 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Kyphosis, Hip dislocation, Scoliosis, Dystonia |
ORPHA:464282 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Omphalocele, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bon... |
ORPHA:93271 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Apnea, Rocker bottom foot,... |
ORPHA:521426 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostosis, Flared metaphys... |
OMIM:259720 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Narrow chest, Vertebral com... |
OMIM:618644 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Tremor, Pulmonary hypoplasia, Choreoathetosis, Congenital diaphragmatic hernia |
OMIM:614080 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... |
ORPHA:2636 |
Maffucci Syndrome |
|
Osteolysis, Bone pain, Recurrent fractures, Scoliosis |
ORPHA:163634 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Scoliosis, Aspiration |
OMIM:614688 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy |
ORPHA:860 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Jaundice, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Inguinal hernia, Osteopenia, Down-sloping shoulders, Recurrent fractures, T... |
OMIM:611174 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Micrognathia, Pectus excavatum, Facial edema, Ly... |
OMIM:616843 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Macroglossia, Prolonged neonatal jaundice, Pulmonary hypoplasia, D... |
OMIM:214100 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul... |
ORPHA:746 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Bone pain, Pectus carinatum, Hernia... |
ORPHA:955 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Sho... |
ORPHA:85293 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
Hurler Syndrome |
|
Inguinal hernia, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, H... |
OMIM:607014 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Overlapping fingers, Thoracic scoliosis, Recurrent fractures, Hypoventilation |
OMIM:606056 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Opisthotonus, Clubbing of fingers |
ORPHA:3304 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of the 5th finger... |
ORPHA:158687 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... |
ORPHA:563 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Pectus excavatum, Facial edema... |
OMIM:265300 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Opisthotonus |
OMIM:610678 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Delayed... |
OMIM:617809 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Telangiectas... |
ORPHA:2909 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturation, Keloids, Brachydactyly |
ORPHA:3085 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Dea... |
ORPHA:192 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Cutis marmorata, Cran... |
ORPHA:3219 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, H... |
OMIM:304050 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Short neck, Micrognathia, Absent front... |
OMIM:102500 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Mac... |
ORPHA:79255 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Respiratory insufficiency, Thin ribs |
ORPHA:456328 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... |
OMIM:169400 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis |
ORPHA:370079 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Chronic lung disease |
ORPHA:97290 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, Umbilical hernia |
OMIM:618272 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:313850 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Action tremor, Tibial torsion |
ORPHA:33069 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... |
ORPHA:1969 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2260 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint hypermobility, Bruising susceptibility, Recurrent fractures, Poor wound healing |
OMIM:619120 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, S... |
ORPHA:90652 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Tapered f... |
ORPHA:319182 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Ascites |
OMIM:608776 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Opisthotonus, Choreoathetosis, Limb hypertonia |
OMIM:619580 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Delayed skeletal maturation, Tachypnea, Bell-shaped thorax, Pulmon... |
OMIM:614857 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Short mandibular rami |
OMIM:141300 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Kyp... |
OMIM:617527 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Pulmonary hypoplasia |
ORPHA:85166 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Fryns Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck |
ORPHA:2059 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor... |
ORPHA:238750 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Facial palsy, Hypercapnia, Pneumonia, Respira... |
ORPHA:79138 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory... |
ORPHA:2905 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern... |
OMIM:304110 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Generalized dystonia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, ... |
ORPHA:354 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus exca... |
ORPHA:3063 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... |
ORPHA:887 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Aplasia/hypoplasia... |
ORPHA:221016 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Small thenar eminence, Pulmonary hypoplasia, Camptodactyly |
OMIM:619148 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Respiratory failure, Osteopetrosis, Dystonia |
ORPHA:3240 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Criss-Cross Heart |
|
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Raine Syndrome |
|
Death in infancy, Short neck, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:259775 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, C... |
OMIM:208150 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst |
OMIM:221770 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:1046 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuse... |
OMIM:269300 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol... |
OMIM:163200 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, Hemihypotrophy of ... |
ORPHA:412035 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia, Joint stiffness, Abnor... |
ORPHA:2588 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Poor wound healing, Kyphosis, Osteoporosis, Facial erythema, Biconcave v... |
OMIM:219090 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Dermatitis Herpetiformis |
|
Urticaria, Erythema, Bone pain, Recurrent fractures |
ORPHA:1656 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Tremor, Micrognathia, 2... |
OMIM:617061 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Paroxysmal dystonia, Kyphosis, Respiratory insufficiency, Limb hypertonia |
OMIM:619909 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure |
ORPHA:2707 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis r... |
ORPHA:576 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum,... |
OMIM:219100 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Jaundice, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fra... |
ORPHA:231222 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, Short long bone, Sh... |
ORPHA:370930 |
Pagod Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulmonary hypopla... |
ORPHA:991 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... |
ORPHA:420741 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Prominent... |
ORPHA:536532 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia |
ORPHA:2063 |
Leopard Syndrome 1 |
|
Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Limited elbow movem... |
OMIM:151100 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, ... |
OMIM:304150 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, B... |
ORPHA:2075 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
H Syndrome |
|
Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Bronchiectasis, O... |
ORPHA:168569 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia |
ORPHA:63260 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Baralle-Macken Syndrome |
|
Kyphosis, Dystonia, Tapered finger |
OMIM:619255 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals... |
OMIM:269500 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Short neck, Pectus excavatum, Kyphosis,... |
OMIM:130720 |
Jacobsen Syndrome |
|
Short neck, Pectus excavatum, Missing ribs, Micrognathia, Flexion contracture, Clinodactyly of th... |
OMIM:147791 |
Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Cyanosis, Dystonia |
ORPHA:391428 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Ragged-red muscle fibers, Respiratory... |
OMIM:252010 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Acute respiratory distress syndrome, Craniosynostosis, Micrognathia, Tapered fi... |
OMIM:620005 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Delayed skeletal maturation, Ab... |
ORPHA:52 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Muscular dystrophy |
ORPHA:88618 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Kyphosis, Respiratory insufficiency, Choreoathetosis, Scoliosis... |
ORPHA:702 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Progeroid facial ... |
OMIM:208050 |
Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, Angiokeratoma c... |
OMIM:208400 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Emanuel Syndrome |
|
Torticollis, Sacral dimple, Congenital hip dislocation, Inguinal hernia, Congenital diaphragmatic... |
OMIM:609029 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnorm... |
ORPHA:77301 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis... |
ORPHA:568 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal... |
ORPHA:3042 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Respiratory failure, Death in childhood, Opisthotonus |
OMIM:619847 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Opisthotonus |
ORPHA:206436 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Bruising susceptibility |
OMIM:219080 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ... |
OMIM:225400 |
Listeriosis |
|
Back pain, Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Rhabdomyolysis, Respir... |
ORPHA:533 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Pectus carinatum, Scoliosis |
OMIM:609008 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Flushing, Myopathy, Scoliosis, Proximal ... |
OMIM:162300 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Osteolysis, Osteoporosis, Urticaria, Pathologic fracture, Flushing |
ORPHA:98850 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus |
ORPHA:445038 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Pectus excavatum, Delayed skeletal maturation, Tachypn... |
OMIM:613658 |
Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Ectro... |
OMIM:619648 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Mic... |
OMIM:619951 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Truncus Arteriosus |
|
Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmona... |
ORPHA:3384 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Recurrent sinopulmonary infections, Recurrent respiratory infections, Rh... |
ORPHA:647 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Myopathy, Athetosis, Respi... |
ORPHA:506 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat... |
OMIM:617248 |
Brittle Cornea Syndrome 2 |
|
Inguinal hernia, Recurrent fractures, Umbilical hernia, Bruising susceptibility, Joint hypermobility |
OMIM:614170 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Tremor, Kyphosis, Pectus carinatum, Choreoathetosis, Scoliosis, Dystonia, Joint ... |
OMIM:617988 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,... |
ORPHA:1001 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Reduced bone mi... |
OMIM:619377 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal lung lobation, A... |
ORPHA:818 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Jaundice, Osteolysis, Corneal scarring, Atypical scarring of skin, Cutaneous photosen... |
OMIM:263700 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short... |
OMIM:252940 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... |
OMIM:105650 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Fryns Syndrome |
|
Short neck, Aplasia of the left hemidiaphragm, Stillbirth, Chylothorax, Pulmonary hypoplasia, Cam... |
OMIM:229850 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Inguinal hernia, Congenit... |
ORPHA:96170 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni... |
OMIM:613309 |
Ogden Syndrome |
|
Torticollis, Prematurely aged appearance, Apnea, Facial wrinkling, Short neck, Jaundice, Pulmonar... |
OMIM:300855 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... |
ORPHA:3186 |
Prader-Willi Syndrome |
|
Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp... |
ORPHA:739 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Clubbing |
ORPHA:439 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... |
ORPHA:373 |
Gaucher Disease |
|
Osteopenia, Death in infancy, Increased bone mineral density, Osteomyelitis, Recurrent fractures,... |
ORPHA:355 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete... |
OMIM:617397 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Kyphosis, Arm dystonia, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Short neck |
ORPHA:932 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... |
OMIM:300373 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Inguinal hernia, Death in infancy, Short... |
ORPHA:2308 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Short neck, Micrognathia, Scoliosis,... |
ORPHA:75857 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Pos... |
OMIM:264480 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Cutis marmorata, Tape... |
OMIM:303600 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio... |
ORPHA:1393 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, Congenital diaphragmatic hernia, Micrognathia |
OMIM:619699 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormal vertebral morphology, Elbow ankylosis... |
ORPHA:95699 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration... |
ORPHA:31826 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Short neck, Micrognathia, Flexion contracture, Elbow flexion c... |
OMIM:300868 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, ... |
ORPHA:261318 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis... |
ORPHA:2789 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets |
OMIM:613388 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... |
ORPHA:254346 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ... |
ORPHA:740 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Clinodactyly, Bruisin... |
OMIM:619745 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Myositis, Hypoplastic scapulae, Sacral dimple, Abnormal dent... |
ORPHA:3310 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature,... |
ORPHA:646 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplasia of the bone... |
ORPHA:562 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U... |
ORPHA:141127 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Congenita... |
ORPHA:280 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... |
ORPHA:570 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H... |
ORPHA:1005 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Short neck, Kyphosis, Asthma, Split hand, Flexion contracture, Recurrent pneumon... |
OMIM:309900 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... |
ORPHA:261112 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum, Short neck |
OMIM:200995 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Inguinal hernia, Abnormal dental enamel morphology, Osteomalacia, Micrognathia,... |
ORPHA:534 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, Narrow chest, I... |
OMIM:213980 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery... |
ORPHA:221 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Rhabdomyosarcoma, Short neck, Micro... |
OMIM:218040 |
Fetal Alcohol Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Congenital diaphragmatic hernia, Micrognathia |
ORPHA:1915 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat... |
OMIM:618651 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Limb joint contracture, Kyphoscoliosis, Flexion contracture,... |
OMIM:275210 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis, Acrocyanosis, Scoliosis, Avascular necrosis |
ORPHA:1764 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Death in chi... |
OMIM:618278 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Delayed skeletal matur... |
OMIM:608328 |
Cockayne Syndrome Type 2 |
|
Scarring, Progeroid facial appearance, Kyphosis, Flexion contracture, Scoliosis, Enamel hypoplasi... |
ORPHA:90322 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... |
ORPHA:2062 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Micrognathia, Postaxial hand polydactyly, Preaxial polydactyly, ... |
OMIM:615948 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, Ectodermal dysplasia, Radial deviation... |
OMIM:609944 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size |
ORPHA:364028 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Pectus excavatum... |
OMIM:619127 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Bone pain, Osteoporosis, Increased susceptibility to fractures, Urticaria, Flushing |
ORPHA:98849 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
Trisomy 18 |
|
Microretrognathia, Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxi... |
ORPHA:3380 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, EMG: myopathic abnormalities |
ORPHA:2549 |
Dpagt1-Cdg |
|
Tremor, Flexion contracture, Pulmonary hypoplasia, Scoliosis, Camptodactyly |
ORPHA:86309 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Kyphosis, Hip dislocation, Rickets, Corneal scarring, Genu... |
OMIM:309000 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Pectus excavatum, Kyphosis, Unilateral radial aplasia, Partial absence of thumb, ... |
ORPHA:476126 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, T... |
ORPHA:251071 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Decreased muscle mass, Hypoventilation, Kyphosis, Acromicria, Small hand,... |
OMIM:176270 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Recurrent pneumonia, Thin ri... |
OMIM:234100 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Peau d'orange, Kyphosis, Abnormal sternum morphology, Scoliosis |
OMIM:177850 |
Myasthenia Gravis |
|
Dyspnea, Myositis, Acrocyanosis |
ORPHA:589 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ... |
OMIM:618493 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura |
ORPHA:343 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Recurrent pneumonia, M... |
ORPHA:798 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation of ... |
ORPHA:464738 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Abnormal respiratory system physiology... |
ORPHA:97349 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hemivertebrae, Pulmonary hypoplasia, Abnormal form of the vertebral bodies |
ORPHA:3412 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr... |
ORPHA:558 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Respirat... |
OMIM:222700 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Sandal gap, Camptodactyly of finger, Facial palsy, Tapered finger, Pectus excava... |
ORPHA:261349 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short fo... |
OMIM:618443 |
Cowden Syndrome 5 |
|
Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor |
OMIM:615108 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Asthma, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Pneumothorax, Hip dislocation, Recurrent pneumonia, Respiratory in... |
ORPHA:90349 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Pectus excavatum, Kyphosis, Hypotrophy of the small hand muscles... |
OMIM:610443 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus... |
ORPHA:77261 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia |
OMIM:606164 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... |
ORPHA:263508 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental... |
ORPHA:85199 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Delayed skeletal maturation, Cyanosis, Osteoporosis |
ORPHA:2326 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Osteopenia, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Tremor, Pro... |
OMIM:300966 |
Fraser Syndrome 2 |
|
Respiratory failure, Short thorax, Cutaneous syndactyly, Short neck |
OMIM:617666 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu... |
ORPHA:1855 |
Neu-Laxova Syndrome 1 |
|
Short neck, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Pulmonary hypopla... |
OMIM:256520 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus... |
ORPHA:2479 |
Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Myopathy, Respiratory failure, Distal lower limb muscle weakness |
ORPHA:14 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Palpebral edema, Scoliosis |
ORPHA:261144 |
Renal Agenesis, Bilateral |
|
Abnormal sacrum morphology, Pulmonary hypoplasia |
ORPHA:1848 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... |
OMIM:615919 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Short neck, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Finger ... |
ORPHA:2896 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, ... |
OMIM:616449 |
Cowden Syndrome 6 |
|
Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor |
OMIM:615109 |
Alkaptonuria |
|
Low back pain, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... |
OMIM:203500 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec... |
ORPHA:287 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ... |
ORPHA:96169 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... |
ORPHA:125 |
Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Microg... |
ORPHA:193 |
Mccune-Albright Syndrome |
|
Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis |
OMIM:174800 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... |
ORPHA:2907 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Respiratory insufficiency due to muscle weakness, Bone pain, Rickets, Increased sus... |
ORPHA:18 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ... |
ORPHA:828 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of ... |
ORPHA:544488 |
Limb Body Wall Complex |
|
Ventral hernia, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasia/hypoplasi... |
ORPHA:2369 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:1596 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... |
ORPHA:340 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy, Webbed neck |
OMIM:617478 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Craniosynos... |
ORPHA:1272 |
Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Micrognathia, Postaxial hand polydactyly, Osteoporosis, ... |
OMIM:607330 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Micrognathia, Kyphosi... |
OMIM:153400 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum |
ORPHA:488627 |
Meier-Gorlin Syndrome 7 |
|
Vertebral segmentation defect, Pulmonary hypoplasia, Scoliosis |
OMIM:617063 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic ... |
ORPHA:2556 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration, Scoliosis |
OMIM:223900 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Asthma, Pulmonary artery hypoplasia, Congenital diaphragmatic h... |
OMIM:616777 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal sinuses, Hemivertebrae, Macr... |
OMIM:301040 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Sc... |
ORPHA:404440 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Scimitar anomaly, Pul... |
OMIM:618280 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Cleft verte... |
ORPHA:83617 |
Cardiac Diverticulum |
|
Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Left ventricular hypertrophy, Um... |
ORPHA:1686 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Re... |
OMIM:612301 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi... |
ORPHA:2785 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Cutis marmorata, Bone pain, Pathologic fracture, Acrocyanosis |
OMIM:259900 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... |
ORPHA:500150 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Apnea, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Hip... |
ORPHA:285 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Dystonia, Lipoatrophy, Tremor, Arthritis,... |
ORPHA:51 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Recurrent fractures, Osteoporosis, Premature graying of hair, Scolios... |
ORPHA:1775 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Pectus excavatum, Kyphosis, Broad distal phalanx of the toes, Elbow ... |
OMIM:619194 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur... |
ORPHA:2908 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Abnormality of the cervical spine, Pulmonary hypoplasia |
ORPHA:1708 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Death in infancy, Tremor, Kyphosis, Abnormal subcutaneous fat tissue distribution, Fl... |
OMIM:212065 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal form of the vertebral bodies |
ORPHA:3429 |
Kallmann Syndrome |
|
Tremor, Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis |
ORPHA:251004 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Hyperventilation, Kyphosis, Contracture of the proximal interphalangeal joint o... |
OMIM:618050 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis... |
ORPHA:2044 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, E... |
ORPHA:2299 |
Glycerol Kinase Deficiency |
|
Myopathy, Osteoporosis, Muscular dystrophy, Pathologic fracture |
OMIM:307030 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Osteoporosis, Gout, Increased susceptibility to fractures, Pulmonary venou... |
ORPHA:79259 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormality of the t... |
ORPHA:273 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Mesomelia, Scoliosis,... |
OMIM:616894 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Bifid thoracic vertebrae, Foot polydactyly, Short ... |
ORPHA:268249 |
Cowden Syndrome 1 |
|
Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Subcutaneous lipoma, Intention tremor |
OMIM:158350 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas... |
ORPHA:3097 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Meckel Syndrome, Type 1 |
|
Webbed neck, Pulmonary hypoplasia, Camptodactyly of finger, Short neck |
OMIM:249000 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplas... |
ORPHA:1662 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost... |
ORPHA:2232 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Block verte... |
OMIM:306955 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Long fingers |
OMIM:614294 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... |
ORPHA:79404 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Camptodactyly of... |
ORPHA:2753 |
Multiple Myeloma |
|
Osteopenia, Vertebral compression fracture, Bone pain, Pathologic fracture, Pleural effusion |
ORPHA:29073 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Alexander Disease |
|
Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, Respiratory insufficiency,... |
ORPHA:58 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Accelerated skeletal maturation, Asthma, Card... |
ORPHA:293987 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Death in infancy, Abnormal lung lobation, Vertebral segm... |
ORPHA:2052 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Sacral dimple, Abnormal lung lobation, Severe photosensitivity, Pulmonary hypop... |
OMIM:270400 |
Primary Hyperoxaluria |
|
Cutis marmorata, Recurrent fractures, Generalized osteosclerosis, Bone pain, Acrocyanosis |
ORPHA:416 |
C Syndrome |
|
Omphalocele, Death in infancy, Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Sh... |
ORPHA:1308 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Pse... |
OMIM:194190 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Multiple lipomas,... |
ORPHA:636 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contract... |
ORPHA:217085 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Mgat2-Cdg |
|
Respiratory distress, Osteopenia, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, L... |
ORPHA:457359 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... |
ORPHA:228123 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contract... |
ORPHA:217093 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Narrow chest, Generalized amyotrophy, Intention tr... |
OMIM:264090 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... |
OMIM:194080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis |
OMIM:610475 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Cyanosis, Tachypnea, Cough |
ORPHA:137675 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Delayed skeletal maturation, Rib ... |
OMIM:607872 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Osteomalacia, Stippled calcification of the shoulder, Myocardial ... |
ORPHA:51608 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Sacral segmenta... |
OMIM:258040 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Bro... |
OMIM:301066 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Diastasis recti, Unilateral hypoplasia of pectoralis major muscle, Craniosynostosis, ... |
ORPHA:1521 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly... |
ORPHA:363958 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pectus excavatum, Kyp... |
ORPHA:464306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Muscular dystrophy |
OMIM:615287 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis |
OMIM:182210 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte... |
ORPHA:744 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Webbed neck, Cervical C2/C3 vertebral... |
ORPHA:1780 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged appearance, Progeroid faci... |
OMIM:216400 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Tr... |
OMIM:133540 |
Iniencephaly |
|
Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Abse... |
ORPHA:63259 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Respiratory i... |
ORPHA:2162 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion co... |
OMIM:601803 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Neonatal respiratory distress, Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, ... |
OMIM:619005 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo... |
OMIM:617140 |
Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Bone cyst, Macroglossia, Scoliosis, Lipoma, Mucosal telangiectasiae, ... |
ORPHA:201 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Short foot, Sco... |
ORPHA:464311 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Micro Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis, Micrognathia |
ORPHA:2510 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Hemivertebrae, Pulmonary hypoplasia |
ORPHA:1112 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of ... |
ORPHA:2322 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha... |
OMIM:219000 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum,... |
OMIM:614437 |
Alstrom Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Asthma, Recurrent pneumonia, Hyperostosis frontalis in... |
OMIM:203800 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis |
ORPHA:261250 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Craniopharyngioma |
|
Increased susceptibility to fractures |
ORPHA:54595 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Athetosis, Scoliosis, Dystonia, Aspiration |
OMIM:613454 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Bruising susceptibility, Osteoporosis |
OMIM:610489 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility |
OMIM:619718 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fingers, 2-3 toe synda... |
ORPHA:401973 |
Genitopatellar Syndrome |
|
Hip contracture, Pulmonary hypoplasia, Scoliosis, Knee flexion contracture |
OMIM:606170 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Joint hypermobility, Pectus excavatum, Kyphosis, Metata... |
OMIM:259050 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Respiratory failure requiring assisted ventilation, Progressive pulmonary function im... |
ORPHA:77293 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Lower limb hypertonia, Generalized dystonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration... |
OMIM:619482 |
Charge Syndrome |
|
Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Res... |
ORPHA:138 |
Blue Rubber Bleb Nevus |
|
Pathologic fracture |
OMIM:112200 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Multiple Endocrine Neoplasia Type 1 |
|
Multiple lipomas, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density |
ORPHA:652 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture, Jaundice |
OMIM:614231 |
Atelis Syndrome 2 |
|
Sacral dimple, Micrognathia, Kyphosis, Dyspnea, Clinodactyly |
OMIM:620185 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Kyphosis, Flexion contracture, Premature graying of hair, Scoliosis, Ena... |
ORPHA:90324 |
Lysinuric Protein Intolerance |
|
Osteopenia, Delayed skeletal maturation, Osteoporosis, Respiratory insufficiency, Pathologic frac... |
ORPHA:470 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Sc... |
OMIM:300967 |
Viss Syndrome |
|
Prominent superficial blood vessels, Micrognathia, Generalized joint laxity, Pectus carinatum, Em... |
OMIM:619472 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Tremor, Abnormal form of the vertebral bodies, Vertebral segmentation d... |
ORPHA:904 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Action tremor, Kyphosis, Contractur... |
ORPHA:191 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo... |
ORPHA:97214 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Webbed neck, Pulmonary hypoplasia, Scoliosis, Camptodactyly... |
OMIM:309800 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hip dysplasia, Umbilical hernia, Joint hypermob... |
OMIM:618846 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Hypoplasia of facial musculature, Hemivertebrae, Pulmonary hypoplasia, Scoliosis... |
OMIM:164210 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fin... |
OMIM:300960 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt... |
OMIM:118450 |
Pallister-Hall Syndrome |
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Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i... |
ORPHA:672 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Congenital diaphragmatic hernia, Cervical ribs, Hernia, Umbilical hernia |
ORPHA:2255 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... |
ORPHA:48435 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Inguinal hernia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Cervical rib... |
OMIM:600001 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Inguinal hernia, Tapered finger, Pectus excavatum, Kyphosis, Abnorm... |
ORPHA:268261 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Accelerated skeletal maturation |
OMIM:300942 |
Penile Agenesis |
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Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617011 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Broad hallux, Recurrent fractures, Tapered finger, Pectus ex... |
ORPHA:2152 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Joint laxity, Torticollis, Isometric tremor, Osteomyelitis, Head titubation, Kyphosis,... |
OMIM:619475 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Sacrococcygeal teratoma, Inguinal hernia, Ankle flexion contractur... |
ORPHA:821 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis |
OMIM:619244 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal ... |
ORPHA:2273 |
Charge Syndrome |
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Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Micrognathia, Absent r... |
OMIM:214800 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporo... |
ORPHA:97685 |
Acromegaly |
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Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Joi... |
ORPHA:963 |
Cardiac Valvular Dysplasia 1 |
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Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Somatomammotropinoma |
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Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Joi... |
ORPHA:314769 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Ramon Syndrome |
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Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis, Juvenile rheumatoid arthritis |
OMIM:266270 |
Branchiooculofacial Syndrome |
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Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Prea... |
OMIM:113620 |
Ellis Van Creveld Syndrome |
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Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Alström Syndrome |
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Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Accelerated skeletal maturation,... |
ORPHA:64 |