Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Abno... |
ORPHA:2484 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax... |
ORPHA:66637 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:615777 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... |
OMIM:113300 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, P... |
OMIM:212112 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... |
OMIM:611369 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge... |
OMIM:119600 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... |
ORPHA:3268 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... |
OMIM:142900 |
Cleidocranial Dysplasia |
|
Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ... |
ORPHA:1452 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial oss... |
OMIM:614592 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... |
OMIM:151210 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha... |
OMIM:184260 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narr... |
ORPHA:1423 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly |
ORPHA:2901 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... |
ORPHA:40 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fing... |
ORPHA:141152 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... |
ORPHA:166272 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo... |
OMIM:600920 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles, Joint laxity |
OMIM:606220 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Bell-shaped thorax, Decreased c... |
ORPHA:313855 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... |
OMIM:608612 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles... |
ORPHA:370930 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Mi... |
OMIM:309350 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... |
ORPHA:93351 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Short neck, Tapered finger, Small hand, Short clavicles |
ORPHA:401923 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus... |
OMIM:259440 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-h... |
OMIM:304150 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... |
OMIM:614399 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Micrognathia, Cutaneous finger ... |
OMIM:601390 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... |
ORPHA:2759 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... |
ORPHA:628 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Mi... |
OMIM:615546 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... |
OMIM:271650 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... |
ORPHA:1520 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat... |
OMIM:130070 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... |
OMIM:615633 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia |
ORPHA:1832 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Micrognathia, R... |
OMIM:619322 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Prenatal death, Camptod... |
OMIM:618393 |
Kniest Dysplasia |
|
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... |
OMIM:156550 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Osteopenia, Down-sloping shoulders, Micrognathia, Coxa valga... |
OMIM:248370 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory... |
ORPHA:70587 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Mandibuloacral Dysplasia |
|
Increased subcutaneous truncal adipose tissue, Micrognathia, Contractures of the large joints, Os... |
ORPHA:2457 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral... |
OMIM:617895 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... |
OMIM:610910 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory def... |
ORPHA:98913 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... |
ORPHA:137914 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles |
OMIM:617159 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... |
ORPHA:2769 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema,... |
ORPHA:2092 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis, Micrognathia |
OMIM:300934 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... |
OMIM:615042 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu varum, Osteolysis,... |
ORPHA:93160 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irr... |
OMIM:618395 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog... |
ORPHA:2097 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, ... |
OMIM:275210 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Bilateral tal... |
OMIM:617746 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib morphol... |
ORPHA:1486 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ri... |
ORPHA:93298 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc... |
OMIM:613686 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... |
ORPHA:2257 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Prominent sternum, Respiratory distress |
ORPHA:2140 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa ... |
ORPHA:1988 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... |
OMIM:259420 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:241530 |
Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, R... |
ORPHA:2021 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Emphysema, Abnormal rib morpholo... |
ORPHA:436 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, Short neck, Dyspnea, Hypoplasia of the radius, Ab... |
ORPHA:3015 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi... |
ORPHA:93299 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus |
OMIM:150260 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... |
ORPHA:582 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... |
ORPHA:1488 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... |
ORPHA:98914 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Micrognathia, Craniosynostosis, Short neck, Kn... |
ORPHA:284417 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ... |
ORPHA:740 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, F... |
OMIM:616482 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Short neck, Split hand, Hand clenc... |
OMIM:157900 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypoplasia, Short mandibular rami, ... |
OMIM:614669 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Aplastic clavicle... |
ORPHA:2658 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Coxa valga, Micrognathia, Avasc... |
ORPHA:1901 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contractur... |
OMIM:224690 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Micrognathia, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Thin ribs, Neonatal death, Joint hypermobility |
OMIM:300219 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,... |
ORPHA:3082 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... |
OMIM:300232 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor... |
OMIM:276950 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Lo... |
ORPHA:3309 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,... |
ORPHA:2554 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro... |
OMIM:114290 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Neonatal death, Arthrogryposis multiplex congenita, Wid... |
OMIM:253310 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi... |
ORPHA:85184 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Micrognathia, Beaded ribs, Dec... |
OMIM:616897 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Epistaxis, Tapered finger, Pectus excavatum, Mic... |
OMIM:619841 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi... |
OMIM:211350 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:435638 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... |
ORPHA:289157 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appea... |
ORPHA:1318 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... |
OMIM:618188 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Micrognathia, Small hand, Upper limb undergrowth... |
OMIM:608799 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bo... |
ORPHA:93315 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... |
OMIM:108720 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... |
ORPHA:79127 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... |
OMIM:620369 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... |
ORPHA:1120 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... |
ORPHA:1163 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi... |
ORPHA:958 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... |
ORPHA:544503 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Jaundice, Early ossification of ... |
OMIM:208500 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... |
ORPHA:226313 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Momo Syndrome |
|
Cutis marmorata, Short neck, Femoral bowing, Large hands, Short sternum, Abnormal bone ossificati... |
ORPHA:2563 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Short... |
ORPHA:85199 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pulmonary artery pressure... |
ORPHA:199241 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn... |
OMIM:619879 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb |
ORPHA:50810 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture |
ORPHA:2596 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... |
OMIM:244460 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis... |
ORPHA:2044 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Kyphosis, Resp... |
OMIM:211530 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Short neck, Pectus excavatum,... |
OMIM:304110 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Scoliosis, Hand clenching |
ORPHA:37612 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... |
ORPHA:2176 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Abnormal fingertip morphology, ... |
ORPHA:90154 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon... |
ORPHA:2038 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Dyspnea, Osteoporosi... |
ORPHA:363705 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Criss-Cross Heart |
|
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Juvenile Polyposis Of Infancy |
|
Clubbing of fingers, Midclavicular hypoplasia, Broad thumb, Subcutaneous lipoma, Broad phalanx of... |
ORPHA:79076 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Preaxial polydactyly, Short rib... |
OMIM:616546 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short t... |
OMIM:601559 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Wheezing, Jaundice, Rickets |
OMIM:211600 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Progeroid facial appearance, Fl... |
ORPHA:90153 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, G... |
ORPHA:583 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... |
OMIM:607143 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Bile Acid Conjugation Defect 1 |
|
Jaundice, Rickets |
OMIM:619232 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys... |
OMIM:616294 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Prominent superficial veins, Progeroid facial appearance, Micrognathia, Limite... |
OMIM:614008 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... |
OMIM:217980 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... |
ORPHA:98915 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractu... |
ORPHA:800 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Overlapp... |
OMIM:619383 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Hand clenching |
ORPHA:240103 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pect... |
ORPHA:2886 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... |
ORPHA:3068 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Erythema, Hip dislocation, Cl... |
ORPHA:3474 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ... |
ORPHA:2905 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb |
ORPHA:89844 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Clubbing |
ORPHA:439 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Angiokeratoma corporis d... |
OMIM:230500 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl... |
OMIM:617303 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuse... |
OMIM:269300 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, Micrognathia |
OMIM:612776 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Flexion contracture, Respiratory insufficiency, Thin ribs, Congenital contracture |
OMIM:615368 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... |
OMIM:614407 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture |
OMIM:616733 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Respiratory distress, Micrognathia, Contractures of the large joints, Scoliosis |
ORPHA:329178 |
Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:312150 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Micrognathia, Short neck, Squared ili... |
OMIM:611209 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Cra... |
OMIM:251230 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia |
ORPHA:261304 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial syn... |
ORPHA:3404 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocat... |
OMIM:182212 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Thin... |
OMIM:608149 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Thoracic hypoplasia, Micrognathia, Neonatal death, Arthrogryposis mu... |
OMIM:608013 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Arachnodactyly, Prematurely aged appearance, Ro... |
ORPHA:3342 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:253290 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers |
ORPHA:3304 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:1834 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Met... |
ORPHA:2215 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Laryngotracheomalacia, Episodic respiratory distress, Chronic pul... |
ORPHA:1199 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... |
ORPHA:93473 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... |
OMIM:616300 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Micrognathia, Recurrent pneumonia, Polydactyly, Asp... |
ORPHA:314655 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irre... |
OMIM:109400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... |
ORPHA:2538 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal rib morphology, Lim... |
ORPHA:96061 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg... |
ORPHA:90652 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... |
ORPHA:99106 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Abnormal rib morphology, Abnorm... |
ORPHA:52 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Respiratory distress, Tracheomalacia, Micrognathia |
OMIM:202650 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... |
ORPHA:171430 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Pectus excavatum, Narro... |
OMIM:309800 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin metatarsal cortices, Thin... |
ORPHA:2463 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Respiratory insuff... |
OMIM:269860 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp... |
OMIM:617925 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w... |
OMIM:225400 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Micrognathia, Short neck, Femoral bowing, Sh... |
OMIM:617022 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure |
ORPHA:2707 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... |
ORPHA:96334 |
Farber Disease |
|
Respiratory distress, Short toe, Flexion contracture, Osteoporosis, Respiratory insufficiency, Ar... |
ORPHA:333 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small h... |
OMIM:300968 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Short neck, Fle... |
ORPHA:505248 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cyanosis, Apnea |
OMIM:619580 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... |
ORPHA:367 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura |
ORPHA:343 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Respiratory failu... |
ORPHA:254528 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs |
OMIM:614857 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, ... |
ORPHA:667 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Brachydactyly, Prematurely aged appearance, Recurrent fractures, Mic... |
OMIM:601812 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th... |
ORPHA:488434 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis |
ORPHA:98805 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Tetanus |
|
Respiratory distress, Stiff neck, Tachypnea |
ORPHA:3299 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... |
OMIM:300373 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death |
OMIM:231680 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Prominent scalp veins, Hyperextensibility of the finger joints, Syndactyly, Cutis m... |
OMIM:151050 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Abnormal vertebral morphology... |
ORPHA:95699 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Arthritis, Cough, Acroc... |
ORPHA:183 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Overlapping fingers |
ORPHA:79330 |
Autosomal Dominant Centronuclear Myopathy |
|
Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, Miscarriage, Thin ribs |
ORPHA:169189 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Fucosidosis |
|
Kyphosis, Acrocyanosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Cyanosis, Osteoporosis |
ORPHA:2326 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... |
OMIM:213980 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e... |
ORPHA:2990 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... |
ORPHA:228123 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slend... |
OMIM:610536 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers,... |
ORPHA:798 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete... |
OMIM:617397 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Micrognathia, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Coxa valga, Micrognathia, Sho... |
ORPHA:254519 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia |
OMIM:606164 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:187300 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum |
ORPHA:488627 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pectus excavatum, Tachypnea, Rickets, Respiratory insufficiency, Reduce... |
OMIM:613658 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea |
ORPHA:26793 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Short neck, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, S... |
ORPHA:2896 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... |
OMIM:612301 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morph... |
ORPHA:261197 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Supernumerary ribs, Micrognathia |
OMIM:613309 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... |
ORPHA:562 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Rickets, Prolonged neonatal jaundice |
ORPHA:79303 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio... |
ORPHA:1393 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Talipes equinovarus, Aspiration, Wrist flexion co... |
OMIM:618733 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Pectus excavatum, Hyperlordosis, Metaphyseal widening, Recurrent pneumonia, Telangi... |
OMIM:234100 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Rickets |
OMIM:607765 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Cutis marmorata, Swelling of proximal interphalangeal joints... |
ORPHA:3260 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Prominent fingertip pads, Small hand, Respiratory distress, Sandal gap |
OMIM:612863 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Septic arthritis, Arthritis... |
ORPHA:36234 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Contracture ... |
ORPHA:83617 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... |
OMIM:148050 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Overlapping toe, Micrognathia, Short neck, Small hand, Short foot, Bilatera... |
ORPHA:177907 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Respiratory distress |
ORPHA:990 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Rheumatoid arthritis |
ORPHA:589 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex... |
ORPHA:309282 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly... |
ORPHA:2588 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Bifid sternum, Short metacarpal, Cutis marmorata, Tapere... |
OMIM:303600 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Joint stiffness, Short... |
OMIM:252940 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe |
OMIM:617478 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Cyanosis, Block vertebra... |
OMIM:306955 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limited elbow e... |
OMIM:123790 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Fin... |
ORPHA:508488 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Auriculocondylar Syndrome |
|
Respiratory distress, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Micrognathia |
ORPHA:137888 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Micrognathia, Missing r... |
ORPHA:3310 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Short neck, Short toe, Limitation of joint mo... |
OMIM:139210 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Cyanosis, Apnea |
OMIM:261740 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Short metatarsal, Elbo... |
OMIM:608328 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... |
OMIM:208150 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Respiratory distress, Brachydactyly, Neonatal respiratory distress, Sandal gap... |
OMIM:616268 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion |
ORPHA:1546 |
Listeriosis |
|
Respiratory distress, Back pain, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Jaundice, Res... |
ORPHA:533 |
Japanese Encephalitis |
|
Respiratory distress, Stiff neck, Elbow flexion contracture, Respiratory paralysis, Talipes equin... |
ORPHA:79139 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Osteomalacia, Recurrent fractures, Micrognathia, Joint stiffness, Kyphosis, Abn... |
ORPHA:534 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Joint hyperflexibility, Abnormal... |
ORPHA:77301 |
Familial Dysautonomia |
|
Acrocyanosis, Osteolysis, Recurrent fractures, Scoliosis |
ORPHA:1764 |
Adnp Syndrome |
|
Joint laxity, Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Abnormal f... |
ORPHA:404448 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... |
OMIM:256810 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis, Scoliosis |
OMIM:223900 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid r... |
ORPHA:50 |
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, V... |
ORPHA:544488 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Progeroid facial appearance, Micrognathia, Pectus excavatum, Decreased fi... |
OMIM:619127 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Hemi... |
OMIM:304050 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Osteomalacia, Stippled calcification of the shoulder, Abnormal ca... |
ORPHA:51608 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology |
ORPHA:210122 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Micrognathia, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of ... |
OMIM:180849 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Osteoarthrit... |
ORPHA:287 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis |
ORPHA:1555 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... |
ORPHA:79404 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Scoliosis, ... |
ORPHA:293987 |
Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... |
ORPHA:340 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Polydactyly |
ORPHA:17 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... |
ORPHA:2907 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Fin... |
ORPHA:818 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Kyphosis, Hip dislocation, Rickets, Genu valgum, Finger sw... |
OMIM:309000 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... |
OMIM:613849 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Small hand, Osteoporosis, Short foot, Scoliosis |
OMIM:615273 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Short nec... |
OMIM:613610 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cough |
ORPHA:137675 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Osteopenia, Hyperextensible thumb, Congenital hip dislocation, Overlapping toe, Jo... |
ORPHA:480880 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest... |
OMIM:614748 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia |
OMIM:227810 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Osteomyelitis, Pneumonia, Urticaria, Interstitial pneumonitis |
ORPHA:37042 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3427 |
Fryns Syndrome |
|
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin... |
OMIM:229850 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial... |
ORPHA:261112 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo... |
ORPHA:97214 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough |
ORPHA:537 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Missing ribs, ... |
ORPHA:97360 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, ... |
OMIM:301066 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... |
ORPHA:18 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... |
ORPHA:185 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism |
ORPHA:79282 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Micrognathia, Dyspnea, Erythema, Respiratory failure, Mandib... |
ORPHA:2556 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Flexion contractur... |
ORPHA:2908 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, ... |
ORPHA:3380 |
Wilson Disease |
|
Osteomalacia, Jaundice, Osteoarthritis, Osteoporosis, Joint hypermobility |
OMIM:277900 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Arthritis, Pulmona... |
ORPHA:221 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Acrocyanosis, Cutis marmorata, Recurrent fractures |
ORPHA:416 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... |
ORPHA:217093 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... |
OMIM:157800 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflex... |
ORPHA:285 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cutis marmorata, Arthritis, Scoliosis, Prolonged neonatal jaundice, ... |
ORPHA:51 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemivertebrae, Short foo... |
OMIM:617140 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary |
OMIM:219800 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Narrow chest, Genu varum, Long toe, Prematurely ag... |
OMIM:264090 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt... |
OMIM:118450 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Charge Syndrome |
|
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Respiratory insuf... |
ORPHA:138 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Brachydactyly, Nasal flaring, Short palm |
ORPHA:466943 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea, Aplasia/hypoplasia involving bones of the extremities |
ORPHA:3384 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Death in infancy |
ORPHA:991 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Generalized abnormality of skin |
ORPHA:805 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Kyphoscoliosis, Ri... |
ORPHA:500150 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi... |
ORPHA:2785 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Cervical ribs |
ORPHA:2255 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i... |
ORPHA:672 |
Gitelman Syndrome |
|
Respiratory distress, Gout |
ORPHA:358 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Pneumonia, Bronchiectasis, Arthritis, Vasculitis in the skin |
OMIM:619381 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Jaundice, Cough |
ORPHA:509 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Abnorma... |
OMIM:214800 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl... |
OMIM:607872 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Respiratory distress, Multiple joint contractures, Kyphoscoliosis, Long... |
ORPHA:79318 |
Plague |
|
Respiratory distress, Arthritis, Acute infectious pneumonia |
ORPHA:707 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe, Chronic pul... |
ORPHA:64 |