Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility |
OMIM:615872 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Thin ribs, Ne... |
OMIM:300219 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, Abnormal... |
ORPHA:1354 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, B... |
OMIM:615633 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... |
ORPHA:2302 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Recurrent respiratory infections, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration, Tracheobronchomalacia |
ORPHA:70589 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Pulmonary edema |
ORPHA:70587 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... |
ORPHA:2635 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Arthritis |
OMIM:620321 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... |
ORPHA:896 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Int... |
ORPHA:70588 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
Short-Rib Thoracic Dysplasia 12 |
|
Short palm, Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Short thorax, Short... |
OMIM:269860 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Cox... |
ORPHA:168549 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... |
OMIM:602271 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... |
ORPHA:244 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... |
ORPHA:93351 |
Diastrophic Dysplasia |
|
Joint dislocation, Recurrent respiratory infections, Abnormal clavicle morphology, Bowing of the ... |
ORPHA:628 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... |
OMIM:610978 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Intraut... |
ORPHA:2643 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... |
ORPHA:2097 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Farber Disease |
|
Abnormality of the knee, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upp... |
ORPHA:333 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... |
ORPHA:2902 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... |
ORPHA:1506 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short thorax, Abnormal rib morphology, Posterior ... |
ORPHA:1797 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormality of the elbow, Abnormal rib morphology, Limitation of joint mobil... |
ORPHA:1486 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Abnormal hand bone ossif... |
OMIM:200600 |
Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Aplasia/Hypoplasia of th... |
ORPHA:93298 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Pectus... |
ORPHA:536467 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/Hypoplasia of t... |
ORPHA:2145 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Rib fusion |
OMIM:608681 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3035 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Apla... |
ORPHA:93299 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... |
OMIM:151210 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... |
OMIM:259440 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation, Emphysema |
ORPHA:171719 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Craniofacial hyperostosis, Coxa valga... |
ORPHA:2484 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... |
ORPHA:1120 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... |
OMIM:187600 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Recurrent respiratory infections, Vertebral fusion, Death in infancy, Block vertebrae, Rib fusion |
OMIM:277300 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama... |
OMIM:271650 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... |
ORPHA:93267 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c... |
ORPHA:2772 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... |
OMIM:608728 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, ... |
ORPHA:79127 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Aspergillosis |
|
Osteomyelitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal rib ... |
ORPHA:1163 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung... |
OMIM:215140 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Cryptorchidism |
ORPHA:1703 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna... |
OMIM:269250 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Death in infancy, Joint laxity, Sandal gap, Atelectasis, Recurrent pneumonia, Pulmona... |
OMIM:613177 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Decreased fibular... |
OMIM:616897 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... |
OMIM:609813 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... |
OMIM:173800 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneumonia, Rec... |
ORPHA:60033 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Femoral-Facial Syndrome |
|
Short femur, Cryptorchidism, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morp... |
ORPHA:1988 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary inf... |
OMIM:612387 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon... |
ORPHA:239 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Thin ribs, Increased... |
OMIM:312150 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, A... |
ORPHA:2970 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hy... |
ORPHA:2759 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Decreased fertility, Hypogonadism, Abnormality of the humeroulnar joint,... |
ORPHA:2234 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectas... |
OMIM:620233 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis... |
ORPHA:3082 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... |
ORPHA:2616 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Thin ribs, Increased... |
OMIM:253290 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse... |
OMIM:250420 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... |
OMIM:613848 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sp... |
ORPHA:958 |
Cleidocranial Dysplasia |
|
Recurrent respiratory infections, Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Re... |
ORPHA:1452 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation... |
OMIM:618395 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Abnormal rib morphology |
ORPHA:2578 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, F... |
OMIM:608940 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triangular shaped distal phalanges o... |
ORPHA:73230 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum... |
OMIM:224690 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook... |
OMIM:208500 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... |
OMIM:223800 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Short... |
ORPHA:2311 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Pul... |
OMIM:612852 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Pulmonary fibrosis, Death in chi... |
OMIM:618278 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral... |
OMIM:602111 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender long bone, Intr... |
OMIM:613804 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif... |
ORPHA:534 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Abnormal lu... |
ORPHA:3301 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections, Flexion contracture, Intercostal muscl... |
ORPHA:258 |
Trisomy 13 |
|
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal lung lobation, Abno... |
ORPHA:3378 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... |
OMIM:253000 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Abnor... |
ORPHA:2021 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contracture, Coxa vara, Thin r... |
OMIM:300232 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Becker Nevus Syndrome |
|
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Limitation of joint mobility, Abnormal ... |
ORPHA:3068 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... |
OMIM:616229 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ... |
ORPHA:538 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Pulmonar... |
ORPHA:171430 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Squared iliac bones, Preaxial polyd... |
OMIM:616300 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Wide cranial sutures, ... |
OMIM:610682 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Femoral bowing, Short long bone, Pulmonary h... |
OMIM:617022 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:2519 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, P... |
ORPHA:582 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness |
OMIM:252920 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... |
OMIM:253010 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Pleural effusion |
OMIM:306400 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... |
OMIM:618265 |
Three M Syndrome 2 |
|
Scapular winging, Short thorax, Thin ribs, Pectus carinatum, Slender long bone, Short 5th finger,... |
OMIM:612921 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal rib morphology, Join... |
ORPHA:2050 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly |
ORPHA:2180 |
Zygomycosis |
|
Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infectious pneumonia, Air cre... |
ORPHA:73263 |
Lujo Hemorrhagic Fever |
|
Atelectasis, Stiff neck |
ORPHA:319213 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... |
ORPHA:1318 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness |
OMIM:252900 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Atelectasis, Abnormal thorax morphology, Cryptorchidism, Abnormal lung lobation, ... |
ORPHA:567 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Irregular, rachi... |
ORPHA:289157 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvarial ossificat... |
OMIM:620076 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia of the lungs, ... |
ORPHA:1834 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Pectus carinatum, Postaxial f... |
OMIM:225500 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic bone, Fibul... |
OMIM:617925 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phal... |
OMIM:601559 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology, Abnormal lung lobation, Abnormal pulmonary s... |
ORPHA:1666 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal cr... |
OMIM:616294 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Intercrural pterygium... |
OMIM:265000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral ne... |
ORPHA:370930 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Chand Syndrome |
|
Atelectasis, Short fifth metatarsal |
ORPHA:1401 |
Kagami-Ogata Syndrome |
|
Long clavicles, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-shaped thorax, Pul... |
OMIM:608149 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Cryptorchidism, ... |
ORPHA:2990 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... |
OMIM:269300 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... |
OMIM:250220 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Chylothorax, Short p... |
ORPHA:3015 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis |
ORPHA:365 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Triangular shap... |
OMIM:271665 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Recurrent upper respiratory tract infections, Genu valgum,... |
ORPHA:583 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Flar... |
OMIM:271640 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Missing ribs, Split hand, Hypoplasi... |
OMIM:200980 |
Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Cryptorchidism, Abnormal rib morphology, Aplasia/Hy... |
ORPHA:887 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Pectus carinatum, Reduced bone mineral density, Abnormal sternum... |
ORPHA:2911 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Sho... |
ORPHA:95699 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Prominent sternum... |
ORPHA:254528 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness |
OMIM:252930 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Irregular menstruation, F... |
OMIM:269500 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cryptorchidism, Squared iliac bones, Rib fusion, Posterior rib ga... |
OMIM:611209 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Clinodactyly of the 5th finger, ... |
ORPHA:52 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Abnormal bone ossifi... |
ORPHA:175 |
Hurler Syndrome |
|
Recurrent respiratory infections, Abnormal clavicle morphology, Death in infancy, Camptodactyly o... |
ORPHA:93473 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... |
OMIM:146510 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidis... |
ORPHA:261344 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Pulmonary hyp... |
OMIM:271520 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal tibial e... |
ORPHA:96334 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Lateral clavicle hoo... |
OMIM:182212 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Re... |
OMIM:612301 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Pectus excavatum, Emphysema |
OMIM:219100 |
Relapsing Polychondritis |
|
Atelectasis, Limitation of joint mobility, Arthritis |
ORPHA:728 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Miscarriage, Thin ribs |
ORPHA:169189 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Schwartz-Jampel Syndrome |
|
Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Increased bone mineral ... |
ORPHA:800 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,... |
ORPHA:2769 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal femur morpho... |
ORPHA:666 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Cryptorchidism, Horizontal ribs |
OMIM:614857 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Cryptorchidism, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla... |
ORPHA:991 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Limitation of... |
ORPHA:96061 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Elbow contracture, Cryptorchidism, ... |
OMIM:208150 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs |
OMIM:619698 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... |
OMIM:114290 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Cryptorchidism, Pneumothorax, Abnormal rib morphology, Humerorad... |
ORPHA:3404 |
Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Thin ribs |
OMIM:617397 |
Ellis Van Creveld Syndrome |
|
Cubitus valgus, Capitate-hamate fusion, Cryptorchidism, Short thorax, Genu valgum, Aplasia/Hypopl... |
ORPHA:289 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Cryptorchidism, Split hand, Abnormal rib morp... |
ORPHA:1300 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Pneumonia, Joint stiffness, Metaphyseal widening, Recurrent upper respirato... |
OMIM:253200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Abnormal ossification involving... |
ORPHA:79345 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Cryptorchidism, Abnormal rib morpholog... |
ORPHA:2588 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... |
OMIM:276820 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Recurrent fractures, Craniosynostosis... |
ORPHA:667 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br... |
ORPHA:1517 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin metatarsal cortices, Thin... |
ORPHA:2463 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Tibial bowing, ... |
OMIM:601812 |
Keutel Syndrome |
|
Miscarriage, Recurrent bronchitis, Short hallux, Costal cartilage calcification, Premature fusion... |
OMIM:245150 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Joint stiffness, Intrauterine growth retardation |
OMIM:230500 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Syndactyly, Hyperextensibility of the finger joints, Broad clavicles, Aplasia/Hypop... |
OMIM:151050 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Irregular ossificati... |
OMIM:109400 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachy... |
ORPHA:1507 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Tracheomalacia, Pectus excavatum, Cryptorchidism, Metaphyseal w... |
OMIM:234100 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex... |
ORPHA:309282 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Short thumb, Cryptorchidism, Thin ribs, Stillbir... |
OMIM:229850 |
Digeorge Syndrome |
|
Atelectasis, Recurrent pneumonia, Hydrocele testis, Patellar dislocation, Recurrent sinusitis, In... |
OMIM:188400 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Abnormal clavicle morphology, Craniofacial hyperostosis, Join... |
ORPHA:581 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ... |
ORPHA:2554 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Joint laxity, Vert... |
OMIM:268310 |
Cerebrofaciothoracic Dysplasia |
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Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Neonatal Marfan Syndrome |
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Long toe, Arachnodactyly, Long fingers, Flexion contracture, Pectus carinatum, Enlarged thorax, E... |
ORPHA:284979 |
Kbg Syndrome |
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Syndactyly, Vertebral fusion, Cryptorchidism, Rib fusion, Cutaneous syndactyly, Cervical ribs, Th... |
OMIM:148050 |
Schinzel-Giedion Midface Retraction Syndrome |
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Long clavicles, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand p... |
OMIM:269150 |
Mucopolysaccharidosis, Type Iiid |
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Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... |
OMIM:252940 |
Cerebrocostomandibular Syndrome |
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Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Pec... |
OMIM:213980 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Coccidioidomycosis |
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Osteomyelitis, Pneumonia, Osteolysis, Pulmonary infiltrates, Abnormal long bone morphology, Arthr... |
ORPHA:228123 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Recurrent respiratory infections, Hypoplastic pubic ramus, Arachn... |
ORPHA:280 |
Trisomy 18 |
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Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Dev... |
ORPHA:3380 |
Osteopathia Striata With Cranial Sclerosis |
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Arachnodactyly, Delayed closure of the anterior fontanelle, Tracheomalacia, Pectus excavatum, Ost... |
OMIM:300373 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial hand polydactyly, Split... |
ORPHA:818 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Osteopenia, Abnormal rib morphology, Small hand, Short foot, Thickened cortex of long bones, Broa... |
ORPHA:488434 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... |
OMIM:619127 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad ribs, Broad metacarpals, Br... |
OMIM:277600 |
Proximal 16P11.2 Microdeletion Syndrome |
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Hand polydactyly, Rib fusion, Craniosynostosis |
ORPHA:261197 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Monosomy 9Q22.3 |
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Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Polydactyly, Metopic synostosis |
ORPHA:77301 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Pontine Tegmental Cap Dysplasia |
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Ankle clonus, Rib fusion |
OMIM:614688 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Autosomal Recessive Cutis Laxa Type 1 |
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Joint laxity, Delayed cranial suture closure, Pneumothorax, Hip dislocation, Recurrent pneumonia,... |
ORPHA:90349 |
Restrictive Dermopathy |
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Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Myhre Syndrome |
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Vertebral fusion, Overlapping toe, Joint stiffness, Cryptorchidism, Short toe, Limitation of join... |
OMIM:139210 |
Aicardi Syndrome |
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Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Supe... |
OMIM:304050 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Sarcoidosis, Susceptibility To, 1 |
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Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infilt... |
OMIM:181000 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... |
OMIM:608328 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... |
ORPHA:2907 |
Kagami-Ogata Syndrome |
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Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic ... |
ORPHA:254519 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Supern... |
OMIM:206900 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Craniosynostosis, Pectus excavatum, Postaxial hand polydactyly, Recurre... |
OMIM:613610 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal interphalangeal joint ... |
ORPHA:83617 |
Aicardi Syndrome |
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Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs |
ORPHA:50 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Streak ovary, Abnormal thorax... |
ORPHA:798 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... |
OMIM:619727 |
Zttk Syndrome |
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Unilateral lung agenesis, Craniosynostosis, Flexion contracture, Rib fusion, Small hand, Short fo... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad long bone diaphyse... |
OMIM:301066 |
Baller-Gerold Syndrome |
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Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Sagittal craniosynostosis, A... |
OMIM:218600 |
Monosomy 9P |
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Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... |
ORPHA:261112 |
Vater/Vacterl Association |
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Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Pallister-Hall Syndrome |
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Abnormal lung lobation, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Rib fusion, Polydac... |
ORPHA:672 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Recurrent respiratory infections, Short humerus, Short femur, Pneumonia, Delayed closur... |
OMIM:264090 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Short hallu... |
OMIM:194190 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Rib fusion, Hy... |
ORPHA:500150 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... |
OMIM:157800 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Peripheral pulmonary artery stenosis, Short dist... |
OMIM:118450 |
Charge Syndrome |
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Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Abnormal rib morphology... |
ORPHA:138 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... |
ORPHA:217093 |
Robinow Syndrome |
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Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing r... |
ORPHA:97360 |
Cog1-Cdg |
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Osteopenia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone |
ORPHA:263508 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Rib fusion, Short foo... |
ORPHA:1606 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Charge Syndrome |
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Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Absent radius, Sho... |
OMIM:214800 |
Osteopetrosis With Renal Tubular Acidosis |
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Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures |
ORPHA:2785 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |