Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... |
OMIM:609813 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... |
OMIM:300717 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... |
ORPHA:2311 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... |
OMIM:600561 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Pectus carinatum, Respiratory failu... |
OMIM:313420 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node |
OMIM:604864 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Spinal Dysplasia, Anhalt Type |
|
Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ... |
OMIM:601344 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... |
OMIM:156530 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Pectus excavatum, Respiratory insufficiency, Restrictive ventilatory defect... |
OMIM:614399 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Bell-shaped thorax, Platyspondyly, Short ribs, Scoliosis, Verte... |
OMIM:602557 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... |
OMIM:618395 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... |
ORPHA:1354 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hemivertebrae, Vertebral ... |
OMIM:109400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, S... |
ORPHA:1988 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebrae, Abnormal for... |
ORPHA:2759 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Recurrent pneumonia, Rib fusion, Hemivertebrae, Supe... |
OMIM:304050 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scol... |
OMIM:611890 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Rib f... |
OMIM:213980 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:613982 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Scoliosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3319 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky... |
OMIM:100800 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Neonatal respiratory distress, Cervical kyphosis, Pectus excavatum, Kypho... |
ORPHA:666 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, ... |
ORPHA:66637 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure, Kyphoscoliosis |
OMIM:618011 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Short neck |
ORPHA:1832 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Respiratory insufficiency, Respiratory failure, Enlarged vertebral ... |
OMIM:139210 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity |
OMIM:604801 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... |
ORPHA:50 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Vertebral arch anomaly |
ORPHA:85184 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting |
OMIM:155050 |
Alagille Syndrome |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... |
ORPHA:52 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Narrow vertebral interpedicular distance, Scoliosis, Short neck |
OMIM:620073 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral column, Stillbirth, ... |
OMIM:276950 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process, Asymmetry of... |
OMIM:250250 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Respiratory insufficiency, Respiratory failure, Scoliosis, Decrea... |
ORPHA:370968 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:2635 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebr... |
ORPHA:2990 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Thoracic kyphoscoliosis, Reduced vital capacity, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta... |
OMIM:611209 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Respiratory insufficiency,... |
OMIM:187601 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Increased intervertebral space, Thoracic platyspondyly, Short ribs... |
OMIM:618961 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis |
OMIM:259440 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Kuskokwim Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1149 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Thoracic hypoplasia, Lateral clavicle hook, Respiratory failure, Short ribs... |
OMIM:617895 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis |
OMIM:148050 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Thoracic dysplasia, Narrow ... |
OMIM:615633 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis |
ORPHA:75840 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Intermediate Nemaline Myopathy |
|
Abnormal thorax morphology, Respiratory failure |
ORPHA:171433 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... |
OMIM:603546 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Long clavicles, Down-sloping shoulders, Thoracolumbar scoliosis, S... |
OMIM:265000 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi... |
OMIM:102510 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Abnormal vertebral morphology, Scoliosis |
ORPHA:261197 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:3015 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Down-sloping shoulders, Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness |
OMIM:606071 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat... |
OMIM:253310 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S... |
OMIM:606612 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity |
OMIM:620326 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Neonatal respiratory distress, Aplasia/Hypopl... |
ORPHA:168549 |
Mucolipidosis Ii Alpha/Beta |
|
Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Pectus excavatum, Mye... |
OMIM:252500 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira... |
OMIM:618291 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Respiratory failure, Platysp... |
OMIM:616482 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Respiratory insufficiency, A... |
ORPHA:474 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Anterior rib punctate calcifications, Abnormal form of the vertebr... |
ORPHA:1426 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest |
ORPHA:93267 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Asthma, Rib fusion |
ORPHA:544488 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebrae, Short neck... |
OMIM:268310 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert... |
ORPHA:263508 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Shield chest, Ir... |
OMIM:143095 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carin... |
ORPHA:1507 |
Pde4D Haploinsufficiency Syndrome |
|
Irregular vertebral endplates, Caudal interpedicular narrowing |
ORPHA:439822 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia |
ORPHA:93298 |
Alg1-Cdg |
|
Kyphosis, Respiratory failure, Scoliosis |
ORPHA:79327 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... |
OMIM:135100 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Cooper-Jabs Syndrome |
|
Missing ribs, Abnormal rib morphology, Respiratory insufficiency, Scoliosis, Umbilical hernia |
ORPHA:1488 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Scoliosis, Bifid ribs |
ORPHA:1606 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, ... |
OMIM:151210 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Narrow chest |
ORPHA:1861 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida, Abnormal rib morphology, Respiratory insufficiency, Vertebral seg... |
ORPHA:1120 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Respiratory insufficiency, Abnormal fo... |
ORPHA:2021 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Respiratory insufficiency, Abnor... |
ORPHA:628 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Spinal canal stenosis, Sc... |
OMIM:101800 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Large placenta, Respiratory failure, Prominent sternum, Coat hanger sign of rib... |
ORPHA:254528 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Respiratory failure, Thin ribs |
ORPHA:171430 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ... |
ORPHA:280 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hy... |
OMIM:166210 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
Pallister-Hall Syndrome |
|
Neonatal death, Rib fusion, Hemivertebrae |
OMIM:146510 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Congenital Myopathy 10B, Mild Variant |
|
Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis |
OMIM:620249 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Hypophosphatasia |
|
Emphysema, Abnormal rib morphology, Narrow chest, Respiratory insufficiency |
ORPHA:436 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1836 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis, Umb... |
ORPHA:97360 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib morphology, Br... |
ORPHA:1163 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Scoliosis, Rib fusion, Bifid ribs |
OMIM:607872 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... |
OMIM:200600 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defec... |
ORPHA:26791 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Femoral-Facial Syndrome |
|
Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Scoliosis, Sprengel anomaly, Dysplastic... |
OMIM:134780 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... |
ORPHA:392 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Pectus excavatum, Recurrent pneumonia, Pectus... |
ORPHA:496641 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Death in infancy, Long clavicles, Shoulder flexion contracture, Short neck, Res... |
OMIM:210710 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Recurrent... |
OMIM:613848 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Melnick-Needles Syndrome |
|
Short thorax, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Short clavicles, ... |
ORPHA:2484 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Scoliosis |
OMIM:616505 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Cleft vertebral arch, Thin ribs, Fused cervical vertebrae |
ORPHA:83617 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Phaver Syndrome |
|
Myelomeningocele, Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bo... |
ORPHA:2876 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... |
ORPHA:582 |
Zttk Syndrome |
|
Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Scoliosis |
OMIM:617140 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, ... |
OMIM:615636 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... |
OMIM:253010 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis |
ORPHA:2319 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Alagille Syndrome 1 |
|
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Hyperlordosis, Pectus excavatum, Respiratory insufficiency due to muscle weakness, K... |
ORPHA:2020 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Short neck |
OMIM:618804 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Scoliosis |
ORPHA:98905 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi... |
ORPHA:258 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Narrow chest, Abnormality of the costochondral junction, Restrictive v... |
ORPHA:96334 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum |
ORPHA:3082 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Abnormal f... |
OMIM:194190 |
Prune Belly Syndrome |
|
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis |
ORPHA:2970 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Abnormal rib morphology, Cardiorespiratory arrest, Respiratory insuf... |
ORPHA:93317 |
Greenberg Dysplasia |
|
Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b... |
OMIM:215140 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Posterior rib fusion, Neonatal death, Pulmonary arterial hypertens... |
OMIM:265380 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal sternum ... |
ORPHA:2519 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomen... |
ORPHA:1393 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... |
ORPHA:1834 |
Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion, Hemivertebrae, Respiratory failure, Cervical ri... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture |
OMIM:616229 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology |
ORPHA:3242 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Cardiospondylocarpofacial Syndrome |
|
Fused cervical vertebrae, Rib fusion, Herniation of intervertebral nuclei, Scoliosis |
OMIM:157800 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Baller-Gerold Syndrome |
|
Spina bifida occulta, Rib fusion, Abnormal vertebral morphology, Scoliosis |
OMIM:218600 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Short neck, Pectus excavatum, Kyphoscoliosis, Respiratory insufficiency, Respirator... |
OMIM:304120 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Abnormal ... |
ORPHA:3068 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... |
ORPHA:175 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Sinusitis, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib... |
ORPHA:1452 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Pneumothorax, Abnormal rib morphology, Ovoid thoracolumbar vert... |
ORPHA:3404 |
Fraser Syndrome 2 |
|
Respiratory failure, Short thorax, Short neck |
OMIM:617666 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal ri... |
ORPHA:2911 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:618278 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Trisomy 13 |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis |
ORPHA:3378 |
Vacterl/Vater Association |
|
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Ane... |
ORPHA:887 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Pallister-Hall Syndrome |
|
Umbilical hernia, Rib fusion, Hemivertebrae, Respiratory insufficiency |
ORPHA:672 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Abnormally ossified vertebrae, Apnea, Shoulder flexion contracture, Hyperlordos... |
ORPHA:800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Em... |
OMIM:613658 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Short neck, Abnormal rib morphology, Spinal canal... |
ORPHA:93473 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:3258 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis |
ORPHA:3342 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Aplastic clavicle, Dyspnea, Abnormal rib morphology, Respiratory failure |
ORPHA:2554 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture |
OMIM:610915 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Dyspnea, Kyphosis, Abnormal rib morphology, Scoliosis |
ORPHA:2215 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Respiratory failure, Thoracic hypoplasia, Short neck |
OMIM:300868 |
Tetraamelia-Multiple Malformations Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Mosaic Trisomy 8 |
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Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis |
ORPHA:96061 |
3-Methylglutaconic Aciduria, Type Viii |
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Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Glycine Encephalopathy With Normal Serum Glycine |
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Respiratory failure, Apnea |
OMIM:617301 |
Mitochondrial Trifunctional Protein Deficiency |
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Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure |
ORPHA:280210 |
Monosomy 9Q22.3 |
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Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:77301 |
Costello Syndrome |
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Barrel-shaped chest, Short neck, Pneumothorax, Respiratory insufficiency, Pectus carinatum, Respi... |
OMIM:218040 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Aplastic clavicle, Short ... |
ORPHA:2636 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Congenital Tricuspid Valve Dysplasia |
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Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Leigh Syndrome |
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Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
Riddle Syndrome |
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Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Respiratory failure |
ORPHA:3240 |
Poliomyelitis |
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Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Hemorrhagic Fever-Renal Syndrome |
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Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Geleophysic Dysplasia 3 |
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Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Listeriosis |
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Respiratory distress, Back pain, Miscarriage, Pneumonia, Respiratory failure |
ORPHA:533 |
Pyknoachondrogenesis |
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Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... |
ORPHA:3003 |
Otopalatodigital Syndrome Type 2 |
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Encephalocele, Myelomeningocele, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal verte... |
ORPHA:90652 |
Oculocerebrocutaneous Syndrome |
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Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Spina bifida occulta, Abnormal rib morphology, Short neck |
ORPHA:488434 |
Nocardiosis |
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Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Malignant Atrophic Papulosis |
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Pleural effusion, Respiratory failure |
ORPHA:679 |
Antley-Bixler Syndrome |
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Abnormal rib morphology, Narrow chest |
ORPHA:83 |
Abetalipoproteinemia |
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Respiratory failure, Kyphoscoliosis |
ORPHA:14 |
Trisomy 1Q |
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Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Bloom Syndrome |
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Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
Lethal Acantholytic Erosive Disorder |
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Respiratory failure |
ORPHA:158687 |
Nijmegen Breakage Syndrome |
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Respiratory failure, Recurrent pneumonia, Short neck |
ORPHA:647 |
Pagod Syndrome |
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Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Meningocele, Abnorma... |
ORPHA:991 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... |
ORPHA:249 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Abnormal rib morphology, Upper airway obstruction, Abnormal form of... |
ORPHA:581 |
Simpson-Golabi-Behmel Syndrome |
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Death in infancy, Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Verteb... |
ORPHA:373 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure, Sacral dimple |
ORPHA:2556 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Abnormal rib morphology, Abnormal sternum morphology, Pate... |
OMIM:192350 |
Steinert Myotonic Dystrophy |
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Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
Myhre Syndrome |
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Platyspondyly, Abnormal rib morphology |
ORPHA:2588 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Hypoplastic scapulae, Abnormal rib morphology, Stillbirth, Narrow chest, Scoliosis, Abnormal vert... |
ORPHA:95699 |
Trisomy 18 |
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Anencephaly, Abnormal rib morphology, Spina bifida |
ORPHA:3380 |
Monosomy 9P |
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Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck |
ORPHA:261112 |
Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
Oculocerebrorenal Syndrome Of Lowe |
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Death in infancy, Kyphosis, Abnormal rib morphology, Respiratory insufficiency, Platyspondyly, Sc... |
ORPHA:534 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
Niemann-Pick Disease Type C |
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Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure |
ORPHA:805 |
Autosomal Recessive Malignant Osteopetrosis |
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Apnea, Abnormal rib morphology, Narrow chest, Chronic rhinitis, Pulmonary arterial hypertension |
ORPHA:667 |
Smith-Lemli-Opitz Syndrome |
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Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:818 |
Charge Syndrome |
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Scoliosis, Abnormal rib morphology, Hemivertebrae, Respiratory insufficiency |
ORPHA:138 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormal rib morphology |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |
Charge Syndrome |
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Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Scoliosis, Umbilical hernia |
OMIM:214800 |
Townes-Brocks Syndrome |
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Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |