Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Rest... |
OMIM:608681 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,... |
OMIM:277300 |
Poland Syndrome |
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Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
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 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morpho... |
ORPHA:1797 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Autosomal Recessive Spondylocostal Dysostosis |
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Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:3268 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Diaphanospondylodysostosis |
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Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, ... |
ORPHA:66637 |
Becker Nevus Syndrome |
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Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Heart Defects-Limb Shortening Syndrome |
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Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... |
ORPHA:1354 |
Femoral-Facial Syndrome |
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Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... |
ORPHA:1988 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
Cerebrofaciothoracic Dysplasia |
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Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... |
OMIM:109400 |
Bronchogenic Cyst |
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Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... |
ORPHA:2357 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... |
OMIM:618845 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Odontochondrodysplasia 1 |
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Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... |
OMIM:184260 |
Myotubular Myopathy With Abnormal Genital Development |
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Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, ... |
OMIM:300219 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... |
ORPHA:2790 |
Metatropic Dysplasia |
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Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Perching Syndrome |
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Respiratory distress, Joint contracture, Scoliosis, Camptodactyly |
OMIM:617055 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, Ab... |
ORPHA:2759 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... |
OMIM:151210 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... |
OMIM:213980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Skeletal muscle atrophy, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Ve... |
ORPHA:2990 |
Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Asbestos Intoxication |
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Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Pontine Tegmental Cap Dysplasia |
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Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration |
OMIM:614688 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... |
ORPHA:166272 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Spondylometaphyseal Dysplasia, Axial |
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Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... |
OMIM:602271 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Recurrent pneumonia, Ri... |
OMIM:304050 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ... |
ORPHA:86812 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bon... |
OMIM:611209 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Brachyolmia, Maroteaux Type |
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Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal ... |
ORPHA:1486 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63260 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Proximal placement of thumb, Sho... |
ORPHA:1120 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal... |
ORPHA:93351 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Hand polydactyly, Scoliosis, Abnor... |
ORPHA:261197 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... |
ORPHA:1445 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Short neck, Increased intervertebral space, Death in infancy, Lumbar hyperlord... |
OMIM:256050 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... |
OMIM:305620 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal... |
ORPHA:70587 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na... |
OMIM:613848 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Pectus carinatum, Reduced bone mineral density, Tibial bowin... |
ORPHA:93315 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis,... |
ORPHA:258 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swel... |
OMIM:612852 |
Short-Rib Thoracic Dysplasia 12 |
|
Short palm, Hypoplastic scapulae, Short neck, Bowing of the legs, Atelectasis, Short toe, Short t... |
OMIM:269860 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ... |
ORPHA:3027 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Clinodactyly, Respiratory distress, Scoliosis |
OMIM:300934 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... |
OMIM:608940 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... |
OMIM:616549 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... |
ORPHA:915 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... |
OMIM:260400 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Abnormality of the elbow, Abnormal rib morphology, Hyp... |
ORPHA:3015 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Delayed cranial suture closure |
ORPHA:1832 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... |
OMIM:620278 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Nodular pattern on pulmon... |
ORPHA:333 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... |
ORPHA:93267 |
Aspergillosis |
|
Sinusitis, Diffuse reticular or finely nodular infiltrations, Abnormal long bone morphology, Coug... |
ORPHA:1163 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... |
ORPHA:2916 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Accelerated skeletal maturation, Generalized osteosclerosis, Macroglossia, ... |
ORPHA:1423 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... |
ORPHA:2876 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... |
ORPHA:50251 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... |
ORPHA:1488 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... |
ORPHA:3320 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Facial palsy, Short neck |
ORPHA:3456 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... |
OMIM:615042 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Short neck, Flexion contracture, Generalized amyotrophy... |
OMIM:620369 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... |
ORPHA:2319 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... |
OMIM:224690 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Delayed cranial suture closure, Coxa ... |
ORPHA:2484 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... |
OMIM:171480 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Recurrent respiratory infections, Sacral dimple, Hypoplastic pubi... |
ORPHA:280 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Ulnar ... |
OMIM:602111 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... |
OMIM:146510 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Aplasia/Hypo... |
ORPHA:93298 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ho... |
OMIM:617895 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
C1Q Deficiency 2 |
|
Arthritis, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis |
OMIM:620321 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Pulmonary hyp... |
OMIM:253310 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven... |
ORPHA:98915 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short neck, Hemivertebrae, Hip dislocation, Short... |
OMIM:615583 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... |
ORPHA:77260 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... |
OMIM:618000 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Recurrent respiratory infections, Respiratory distr... |
OMIM:211530 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... |
OMIM:615633 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hemivertebrae, Vertebral wedging, Scoliosis, Brachydactyly |
ORPHA:377 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... |
OMIM:271225 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira... |
ORPHA:436 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma... |
ORPHA:958 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, R... |
ORPHA:583 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Wide anterior fontanel, Kyphosis, Femo... |
OMIM:616482 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Joint laxity, Recurrent respiratory infections, Congenital hip di... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Joint laxity, Recurrent respiratory infections, Congenital hip di... |
ORPHA:98914 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Delayed skeleta... |
ORPHA:582 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Abnormal rib morp... |
ORPHA:2970 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... |
OMIM:114290 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short hallux, Short neck... |
ORPHA:3309 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... |
ORPHA:73230 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Delayed skeletal maturat... |
OMIM:619383 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Wrist flexi... |
ORPHA:1826 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Flexion contracture, Abno... |
ORPHA:263463 |
Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis |
OMIM:604919 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Delayed s... |
ORPHA:3068 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Abnormal hand bone ossification,... |
OMIM:200600 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Congenital fibrosis of e... |
OMIM:157900 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Delayed skeletal maturation, Flexion contracture, Hyperexte... |
ORPHA:544503 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Pectus excavatum, Kyphosis, Meningocele, Scl... |
OMIM:130720 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib ... |
ORPHA:1834 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress |
OMIM:615993 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252900 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... |
OMIM:620076 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... |
OMIM:300580 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Decreased muscle mass, Pseudoepi... |
OMIM:194190 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Multi... |
OMIM:616897 |
Zttk Syndrome |
|
Unilateral lung agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemiverteb... |
OMIM:617140 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Wide ant... |
ORPHA:85184 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... |
ORPHA:2097 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung... |
OMIM:215140 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... |
OMIM:617952 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Recurrent fractu... |
OMIM:616229 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... |
ORPHA:2050 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171430 |
Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Pectus excavatum, Abnormal... |
OMIM:617180 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn... |
OMIM:620233 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur... |
OMIM:610915 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short neck, Pectus excavatum, Recurrent b... |
OMIM:617303 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Cleidocranial Dysplasia |
|
Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, De... |
ORPHA:1452 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252920 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Sandal gap, Recurrent upper respiratory tract i... |
OMIM:607143 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, EMG: ... |
OMIM:620326 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Delayed skeletal maturation, Abnormal rib morphology, Abnormal ... |
ORPHA:2643 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Adducted thumb, Respiratory distress, Short neck |
ORPHA:50810 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S... |
OMIM:612921 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Facial palsy, Absent thumb, Absent... |
OMIM:607323 |
Scarf Syndrome |
|
Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus cari... |
ORPHA:3134 |
Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... |
ORPHA:175 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Death in infancy, Sandal gap, Morg... |
OMIM:613177 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Diastasis recti, Pulmonary artery stenosis, Partial anomalous pulm... |
OMIM:265380 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov... |
OMIM:252930 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Death in in... |
OMIM:610682 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... |
OMIM:271665 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... |
OMIM:227330 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h... |
OMIM:139210 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... |
OMIM:217980 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif... |
ORPHA:534 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Limitation of joint mobility, Flexion contractur... |
ORPHA:171719 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hypotrophy ... |
OMIM:610443 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Accele... |
ORPHA:1517 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Death in infancy, Camptodactyly o... |
ORPHA:93473 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... |
ORPHA:454836 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital d... |
ORPHA:887 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of ... |
OMIM:274000 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Scarf Syndrome |
|
Barrel-shaped chest, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Pectus c... |
OMIM:312830 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th... |
OMIM:276950 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys... |
OMIM:269300 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
Kagami-Ogata Syndrome |
|
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, T... |
OMIM:608149 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... |
OMIM:608799 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Shor... |
OMIM:601559 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... |
ORPHA:1318 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy |
ORPHA:26792 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Respiratory distress, Contractures of the large joi... |
ORPHA:329178 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Increased variabili... |
OMIM:617022 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Unilateral lung agenesis, Arachnodactyly, Kyphoscoliosis, Sagittal craniosy... |
ORPHA:500150 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... |
ORPHA:96061 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... |
OMIM:615368 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Abnormal lung lobation, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respirat... |
ORPHA:672 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... |
ORPHA:373 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the ulna, Delayed skeletal maturation, Abnorm... |
ORPHA:52 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand,... |
OMIM:200980 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Short metacarpal, Elbow contr... |
OMIM:617137 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractur... |
ORPHA:800 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... |
ORPHA:3003 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... |
ORPHA:1302 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/Hypoplasia of t... |
ORPHA:2145 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc... |
ORPHA:2463 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Dyspnea, Osteoporosis, Pectus carinatum, Macroglo... |
ORPHA:363705 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility |
OMIM:619122 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... |
ORPHA:3242 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Prominent metopic ridge, Finger syndact... |
ORPHA:2215 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Recurrent fractures, Metaphy... |
OMIM:618188 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnor... |
ORPHA:3404 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... |
OMIM:613561 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Fused cervical vertebr... |
ORPHA:268882 |
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, Missing ribs, Abnormal lung lobation, Abnormal rib morphology, Apl... |
ORPHA:3301 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Left ventricular hypertrophy, O... |
ORPHA:79330 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici... |
OMIM:618278 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Recurrent respiratory infections, Respiratory distress, Lumbar hyperlordosis... |
ORPHA:505248 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial mo... |
OMIM:612387 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... |
ORPHA:142 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal lung lobation, Abnormal rib morphology, Abnormal p... |
ORPHA:3378 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Spina bifida, Short neck, Atelectasis, Abnormal thorax morphology, Meningocele, A... |
ORPHA:567 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnorm... |
ORPHA:185 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Bone pain, Abnormal pulmonary interstitial morphology, Pulmonary infiltrates,... |
OMIM:230800 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Joint hyperflexibil... |
OMIM:614816 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... |
OMIM:182212 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal ... |
ORPHA:83617 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Emphysema, Hip dislocation, Congenital diaphragmatic hernia |
OMIM:614100 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Broad distal hallux, Limited elbow movement, Sagittal craniosynost... |
OMIM:101200 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation o... |
OMIM:269500 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... |
ORPHA:96334 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Diastasis recti, Pectus excavatum, Large placenta, Flexi... |
ORPHA:254528 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Wide a... |
ORPHA:798 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han... |
ORPHA:233 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly o... |
ORPHA:3206 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Respiratory distress, Postaxial po... |
OMIM:300968 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... |
OMIM:600920 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Thickened cortex of long bones, Delayed skeletal maturation, Abnormal rib... |
ORPHA:488434 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... |
ORPHA:91359 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Recurrent upper and lowe... |
ORPHA:79329 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Recurrent fractures, Camptodactyly of finger, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Pulmonary infiltrates, Abnorma... |
ORPHA:228123 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Facial hypotonia, Rocker bottom foot, Proximal placement of thumb, Short neck, Pec... |
OMIM:613458 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Clinodactyly, Episodic respir... |
ORPHA:1199 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... |
ORPHA:3342 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis, Short neck, ... |
ORPHA:254519 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck |
ORPHA:1780 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal femur mor... |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... |
OMIM:617925 |
Alveolar Echinococcosis |
|
Low back pain, Pulmonary cyst, Abnormal pelvis bone morphology, Dyspnea, Abnormal skeletal muscle... |
ORPHA:284 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... |
OMIM:618265 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif... |
OMIM:252940 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... |
ORPHA:87 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... |
OMIM:314390 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:608013 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated skeletal maturation, D... |
OMIM:602535 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Chops Syndrome |
|
Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral... |
OMIM:616368 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myopathy, Increased variability in muscle fiber diameter,... |
OMIM:604377 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnorm... |
ORPHA:77301 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... |
ORPHA:2554 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, R... |
OMIM:208150 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infecti... |
ORPHA:73263 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Supernumerary ribs, Congenital diaphragmatic hernia, Morgagni diaphragmatic... |
OMIM:613309 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop... |
OMIM:151050 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... |
ORPHA:1647 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomen... |
ORPHA:1393 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Abnormal rib morphology, Skeletal muscle hypertrophy, Platyspondy... |
ORPHA:2588 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Congenital hip dislocation... |
ORPHA:2962 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Polyd... |
ORPHA:314655 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... |
ORPHA:367 |
Tarp Syndrome |
|
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia... |
ORPHA:2886 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Recurrent respirato... |
OMIM:618371 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Congenital diaphragmatic hernia, ... |
OMIM:219100 |
Momo Syndrome |
|
Delayed skeletal maturation, Short sternum, Short neck |
OMIM:157980 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Limitation of joint mobility, Arthritis, Cough, Abnormal pattern of respira... |
ORPHA:728 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Flexion contracture, Hypoplastic iliac wing, Prominent fingertip pads, Clin... |
OMIM:180849 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Adducted thumb |
ORPHA:89844 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck,... |
ORPHA:508488 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Facial palsy, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus ... |
OMIM:300373 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Recurrent sinopulmonary infections, Joint stiffness, Avascular necr... |
ORPHA:581 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology |
ORPHA:210122 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen... |
OMIM:225500 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Momo Syndrome |
|
Short neck, Femoral bowing, Short sternum, Abnormal bone ossification, Congenital pseudoarthrosis... |
ORPHA:2563 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Digeorge Syndrome |
|
Pilonidal sinus, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Patella... |
OMIM:188400 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Asthma, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Macrogloss... |
ORPHA:444077 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Umbilical hernia, Short sternum, Diaphra... |
OMIM:222448 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short neck, Small hand, ... |
ORPHA:177907 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad phalanges of the h... |
OMIM:277600 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Pulmonary artery dilatation, Arthralgia/arthritis, Spontaneo... |
ORPHA:558 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Delayed skel... |
OMIM:122470 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Rhabdomyolysi... |
ORPHA:533 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Recurrent respiratory infections, Short femur, Sho... |
ORPHA:17 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... |
OMIM:618733 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexi... |
OMIM:608328 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Lateral clavicle hook, Delayed skeletal maturation, Patellar aplasia, Slender lo... |
OMIM:613804 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Wide anterior fontanel, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Abnormal lung lobation, Pectus ... |
OMIM:312870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Osteomyelitis, Sinusitis, Pneumonia, Respiratory tract infection,... |
ORPHA:36234 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Facial hypotonia, Osteoporosis, Small han... |
OMIM:615273 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture... |
ORPHA:217085 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Stiff neck, Genu recurvatum... |
ORPHA:79139 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Pulmonary hypoplasia, Short tibia, Limb hypertonia |
OMIM:620306 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Decreased muscle mass, Genu recurvatum, Protrusio acetabuli, Kyphosc... |
OMIM:154700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Bilateral trilobed lung, Congenital hip dislocation,... |
OMIM:306955 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo... |
ORPHA:1546 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture... |
ORPHA:217093 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal lung lobation, Abnormal rib morphology, Abnormal pulmonary s... |
ORPHA:1666 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Congenital diaphragm... |
ORPHA:991 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Brachydactyly, Neonatal respiratory distr... |
OMIM:616268 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Tetanus |
|
Respiratory distress, Stiff neck, Tachypnea |
ORPHA:3299 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... |
ORPHA:261112 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Apnea, Recurrent fractures, Craniosyn... |
ORPHA:667 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Ankle... |
ORPHA:3260 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Abnormal morphology of ulna, Joint stiffness, Delayed skeletal ... |
ORPHA:93 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenoc... |
OMIM:618913 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary arterial hypertension |
OMIM:619272 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Cutaneous ... |
OMIM:311900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Aplasia of t... |
OMIM:229850 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Partial duplication o... |
OMIM:164210 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, Flexion contracture, Pectu... |
ORPHA:284979 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Osteomalacia, Myocardial calcification, Stippled c... |
ORPHA:51608 |
Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:206436 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... |
OMIM:164310 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia |
OMIM:160900 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Kyph... |
ORPHA:818 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Myopathy, Dyspnea, Pulmonary edema |
OMIM:115197 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Short sternum, Clinodactyly of the 5th finger, Pulmonary artery atre... |
OMIM:620113 |
Adnp Syndrome |
|
Joint laxity, Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Recurrent ... |
ORPHA:404448 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Congenital hip dislocation... |
ORPHA:2834 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Hyperextensible thumb, Sacral dimple, Congenital hip dislocation, Joint laxity, Thora... |
ORPHA:480880 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Embryonal rhabdomyosarcoma, Short neck |
OMIM:257300 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Short hallux, Costal cartilage calc... |
OMIM:245150 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Rhab... |
ORPHA:90068 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Ellis Van Creveld Syndrome |
|
Capitate-hamate fusion, Delayed skeletal maturation, Short thorax, Genu valgum, Aplasia/Hypoplasi... |
ORPHA:289 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pectus excavatum, Delayed skeletal maturation, Tachypnea, Rickets, Abno... |
OMIM:613658 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Delayed skeletal maturati... |
ORPHA:3380 |
Chand Syndrome |
|
Atelectasis, Short fifth metatarsal |
ORPHA:1401 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Prominent fingertip pads, Small hand, Respiratory distress, Sandal gap |
OMIM:612863 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis |
ORPHA:93958 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Myositis, Osteomyelitis, Pneumonia, Inter... |
ORPHA:37042 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb |
OMIM:610536 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cervical ribs, ... |
ORPHA:2255 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Limited elbow extension, Respiratory distress, Craniosynostosis |
OMIM:123790 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Butterfly vertebral arch, Abnormal rib morphology, Hemivertebrae, Periphe... |
OMIM:118450 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Umbilical hernia, Craniosynostosis |
ORPHA:1555 |
Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Abnormal pulmonary interstitial morphology, Cough... |
ORPHA:781 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Sandal gap, Congenital diaphragmat... |
OMIM:135900 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... |
ORPHA:1329 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... |
ORPHA:2907 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hype... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hype... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hype... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hype... |
ORPHA:99226 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Charge Syndrome |
|
Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Res... |
ORPHA:138 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Pachyonychia Congenita |
|
Respiratory distress, Lower limb pain |
ORPHA:2309 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Osteomyelitis leading to amputation due to slow he... |
OMIM:256810 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum, P... |
OMIM:614437 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Respiratory failure |
ORPHA:2556 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Peripheral pulmonary artery stenosis, Genu recurvatum, Hip dislocation,... |
ORPHA:90348 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Facial hypotonia, Apnea |
ORPHA:2131 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltra... |
OMIM:181000 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Wide anterior fontanel, Pneumothorax, Hip dis... |
ORPHA:90349 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Restrictive v... |
ORPHA:537 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lung lobatio... |
ORPHA:141127 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... |
ORPHA:79404 |
Ethylene Glycol Poisoning |
|
Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonar... |
ORPHA:31826 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Viss Syndrome |
|
Generalized joint laxity, Pectus carinatum, Emphysema, Joint laxity, Long toe, Arachnodactyly, Sc... |
OMIM:619472 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Absent radius, Short thumb, Radial ... |
OMIM:214800 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Ragged-red muscle fibers, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Gitelman Syndrome |
|
Respiratory distress, Chondrocalcinosis, Rhabdomyolysis, Gout |
ORPHA:358 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism |
ORPHA:79282 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, Exertional ... |
ORPHA:2299 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Brachydactyly, Nasal flaring, Short palm |
ORPHA:466943 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Respiratory distress, Multiple joint contractures, Kyphoscoliosis, Long... |
ORPHA:79318 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Respiratory failure, Respiratory distress, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Leptospirosis |
|
Respiratory distress, Rhabdomyolysis, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Aortopulmonary... |
ORPHA:97214 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Plague |
|
Acute infectious pneumonia, Arthritis, Abnormality of the elbow, Respiratory distress |
ORPHA:707 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Accelerated skeletal maturation, Kyphosis, Short toe, R... |
ORPHA:64 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |