| Costocoracoid Ligament, Congenitally Short |
|
Abnormal scapula morphology, Down-sloping shoulders, Abnormality of the shoulder girdle musculature |
OMIM:122580 |
| Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... |
OMIM:173800 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Restric... |
OMIM:608681 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Supernumerary vertebral ossification centers, Kyphosis... |
OMIM:609813 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphysea... |
OMIM:618961 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Short ri... |
ORPHA:1145 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... |
ORPHA:1801 |
| Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ... |
ORPHA:1803 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs |
OMIM:618155 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... |
ORPHA:168549 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Osteopenia |
OMIM:618188 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Decreased crani... |
OMIM:151210 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Ab... |
ORPHA:66637 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
| Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Pectus carinatum, Shoulder girdle ... |
ORPHA:64755 |
| Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ... |
ORPHA:93296 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:2790 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or mini... |
OMIM:600972 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Short long bone, Death in adolescence, Neonatal death, Scoliosis, Camptodac... |
OMIM:619751 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Micrognathia, Hypoplasti... |
OMIM:614524 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Short ribs, Respiratory insufficiency, Limb undergrowth, Respiratory failure, Thora... |
OMIM:273730 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
| Dysosteosclerosis |
|
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... |
OMIM:224300 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... |
ORPHA:1423 |
| Sprengel Deformity |
|
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... |
OMIM:184400 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Camptodacty... |
ORPHA:2311 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... |
ORPHA:1354 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... |
OMIM:611702 |
| Three M Syndrome 1 |
|
Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Joint dislocation, ... |
OMIM:273750 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... |
OMIM:617895 |
| Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... |
OMIM:228520 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Dysplastic sacrum, Short ribs, Iliac crest serration, Short ne... |
OMIM:613320 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Short ri... |
ORPHA:1842 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
| Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... |
ORPHA:2635 |
| Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Micromelia, Abnorma... |
ORPHA:2021 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, Pectus excavatum, EMG: myopathic abnormalities, Diap... |
OMIM:614399 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Severe... |
OMIM:200600 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Apnea, Metaphyseal cupping, Widely patent fontanelles and sutures, Craniosyno... |
OMIM:241500 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone |
OMIM:613819 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint... |
ORPHA:168555 |
| Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... |
ORPHA:1394 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short ribs, Short femur,... |
OMIM:616897 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Reduced bone mineral density, Camp... |
ORPHA:1488 |
| Pyknoachondrogenesis |
|
Muscular edema, Enlarged thorax, Abnormal iliac wing morphology, Sclerosis of skull base, Unossif... |
ORPHA:3003 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... |
ORPHA:2759 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow chest, Bowing of the legs, Miscarriage, Limitation of joint mobility, Flexion contracture,... |
ORPHA:1865 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy, Hip dislocation |
OMIM:241800 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... |
ORPHA:2347 |
| Braddock Syndrome |
|
Pectus excavatum, Micrognathia, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Congenital mu... |
ORPHA:52047 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Micro... |
OMIM:617866 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
| Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, R... |
ORPHA:474 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Pulmonary ar... |
OMIM:608406 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology, Apnea |
OMIM:300864 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
| Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... |
OMIM:109400 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Dumbbell-shaped femur, Rhizomelic ... |
ORPHA:56304 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... |
ORPHA:93351 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... |
ORPHA:1486 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Joint contract... |
OMIM:224400 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses,... |
OMIM:119600 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial... |
ORPHA:2519 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, ... |
ORPHA:166272 |
| Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Short ribs, Brachydactyly, B... |
OMIM:615630 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... |
OMIM:265000 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... |
ORPHA:2140 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... |
ORPHA:1143 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... |
ORPHA:239 |
| Prieto Syndrome |
|
Coxa valga, 11 pairs of ribs, Osteoporosis, Patellar subluxation, Clinodactyly, Radial deviation ... |
OMIM:309610 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Skeletal muscle hypertrophy, Irregular femoral epiphysis, Pectus carinatum, Bell-... |
OMIM:255710 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Respiratory insufficiency, Brachydactyly, Bell-shaped thorax... |
OMIM:615633 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hyper... |
ORPHA:86812 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Ankle clonus, Hemivertebrae, Scoliosis, Aspiration, Facial palsy |
OMIM:614688 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Pectus excavatum, Acute infantile spinal muscular atrophy, Flexion contract... |
OMIM:271225 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Micrognathia, Upper airway obstruction, Dyspnea, Apla... |
ORPHA:141152 |
| Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... |
ORPHA:2911 |
| Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... |
OMIM:245190 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow d... |
OMIM:224690 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs, Short ribs... |
OMIM:266910 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, Short long bone... |
ORPHA:1505 |
| Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Thin ribs, Neonatal death, Death in infancy, Joint hypermobility, Centrally... |
OMIM:300219 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Lumbar hyperlordosis, Long clavicles, Aplasia/Hypoplasia of the clavicles... |
ORPHA:2839 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
| Nail-Patella Syndrome |
|
Pectus excavatum, Glenoid fossa hypoplasia, Biceps aplasia, Triceps aplasia, Hypoplastic radial h... |
OMIM:161200 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... |
OMIM:213980 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
| Nemaline Myopathy 2 |
|
Apnea, Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty repl... |
OMIM:256030 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Postaxial polydactyly, Femoral bowing, Preaxial polyd... |
OMIM:615503 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Mi... |
ORPHA:178148 |
| Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... |
OMIM:600920 |
| Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia... |
ORPHA:2097 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Narrow chest, Vertebral segmentation defect, Hemivertebrae, 11 pairs of ribs, Rhizomelia |
OMIM:617661 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Abnormal rib... |
ORPHA:93267 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteoscle... |
OMIM:122860 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic i... |
ORPHA:3144 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... |
OMIM:613091 |
| Kniest Dysplasia |
|
Enlarged joints, Respiratory distress, Pectus excavatum, Short neck, Platyspondyly, Hypoplastic p... |
OMIM:156550 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Short ribs, Micrognathia, O... |
OMIM:156400 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Widening of cervical spinal canal, Micrognathia, Neonatal death, A... |
OMIM:253310 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Scoliosis, Abnormal ... |
ORPHA:261197 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... |
ORPHA:2990 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Narrow chest, Short distal phalanx of finger, Short ribs, Postaxial polydactyly, Brachydactyly, P... |
OMIM:614091 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... |
ORPHA:50251 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Respiratory distress, Unossified sacrum, Tracheomalacia, Micrognat... |
OMIM:608022 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated ... |
OMIM:615368 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Recurrent pn... |
OMIM:304050 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... |
ORPHA:2596 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Coxa vara, Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delaye... |
OMIM:183900 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Congenital diaphragmatic hernia, Postaxial polydactyly, Short ribs, Preaxial polyda... |
OMIM:616546 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... |
OMIM:605809 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Twel... |
ORPHA:397715 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Adducted thumb, Micrognathia, Respiratory insufficiency, Short neck, 11 pairs of... |
OMIM:616266 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
| Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... |
OMIM:225500 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Flexion contracture, Short ribs, Absent middle phalanx of 3rd... |
OMIM:308050 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Thin ribs, Respiratory insufficiency, Platyspondyly, Crumpled... |
OMIM:166210 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Abnormal rib cage morphology, Flexion contracture, Spinal... |
OMIM:602771 |
| Blomstrand Lethal Chondrodysplasia |
|
Narrow chest, Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Sh... |
ORPHA:50945 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Micrognat... |
ORPHA:2522 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Congenital diaphragmatic hernia, R... |
ORPHA:1120 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... |
OMIM:108720 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Delayed cranial suture closure, Micrognathia, Short neck, Mandibular aplasi... |
ORPHA:1832 |
| Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... |
ORPHA:2484 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Hypoplasia of the radius, Micrognathia, Short neck, Brachydact... |
ORPHA:3015 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Mosaic Trisomy 14 |
|
Narrow chest, Micrognathia, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
| Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Micrognathia, Short neck, Scolios... |
ORPHA:1834 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
| Holt-Oram Syndrome |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abse... |
ORPHA:392 |
| Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Abnormal rib morp... |
ORPHA:436 |
| Noonan Syndrome 12 |
|
Proximal placement of thumb, Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs |
OMIM:618624 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Short femur, Hypoplasia of the radius, Short ribs, Short tibia, Short humeru... |
OMIM:607143 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Thin ribs, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: my... |
ORPHA:169189 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... |
ORPHA:2319 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia |
OMIM:221950 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... |
OMIM:620011 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Respiratory distress, Metaphyseal chondrodysplasia, Narrow greater sciat... |
OMIM:260400 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Microretrognathia, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Respira... |
OMIM:616300 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Thin ribs, Flexion contracture, Flared iliac wing, Metaphyseal wide... |
OMIM:300232 |
| Achondrogenesis Type 1B |
|
Narrow chest, Micrognathia, Short neck, Micromelia, Abnormal rib morphology, Short foot, Short th... |
ORPHA:93298 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Bowing of the legs, Short toe, Short ribs, Respiratory insufficiency, Bowing of the... |
OMIM:269860 |
| Cdags Syndrome |
|
Kyphosis, Short clavicles, Short ribs, Coronal craniosynostosis, Delayed cranial suture closure, ... |
OMIM:603116 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Weaver Syndrome |
|
Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared femoral meta... |
OMIM:277590 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vert... |
OMIM:612852 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... |
OMIM:263520 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Microretrognathia |
ORPHA:276422 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
| Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... |
ORPHA:3027 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Respiratory insufficiency, 11 pairs of ribs |
OMIM:618356 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... |
OMIM:617925 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Pectus excavatum, Prominent sternum, Absent glenoid fo... |
ORPHA:96334 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, P... |
ORPHA:3068 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Kyphosis, Thin ribs, Micrognathia, Decreased calvarial ossifi... |
OMIM:259420 |
| Meier-Gorlin Syndrome 3 |
|
Narrow chest, Coxa vara, Microretrognathia, Short ribs, Tracheomalacia, Micrognathia, Aplasia/Hyp... |
OMIM:613803 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Abnormality of the diaphragm, A... |
ORPHA:171430 |
| Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Microretrognathia, Multiple rib fractures, Osteopenia, Decreas... |
OMIM:616229 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Joint dislocation, Micrognathia, Scoliosis, Clinodactyly |
OMIM:300934 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ... |
ORPHA:93299 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
| White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna, Micrognathia... |
OMIM:200980 |
| Campomelic Dysplasia |
|
Narrow chest, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing... |
ORPHA:140 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Pectus excavatum, Prominent sternum, Clinodactyly of the 5th finger, Spondylolisthesis... |
OMIM:617877 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R... |
ORPHA:2616 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... |
ORPHA:73230 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Craniosynostosis, Micrognathia, Brachydactyly, Arthrogryposis multiplex congenita |
OMIM:618265 |
| Cree Mental Retardation Syndrome |
|
Pectus excavatum, Micrognathia, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous fin... |
OMIM:606851 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Micrognathia, Scoliosis, Death in infancy, Neonatal respiratory distress, C... |
OMIM:615042 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... |
ORPHA:582 |
| Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... |
ORPHA:263508 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Left ventricular hypertrophy, Platyspondyly, Scoliosis, Broad clavic... |
OMIM:619698 |
| Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Wormian... |
OMIM:617952 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Micrognathia, Broad hall... |
ORPHA:3082 |
| Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Micrognathia, A... |
OMIM:312150 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... |
OMIM:271640 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum |
OMIM:184800 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital diaphragmatic hernia, Congenital hip dislocation, Abno... |
ORPHA:1647 |
| Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... |
OMIM:148050 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the ca... |
ORPHA:163966 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:600081 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Shor... |
OMIM:134780 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Left ventricular hypertrophy, Mic... |
OMIM:611209 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Hypoventi... |
ORPHA:98915 |
| Shprintzen-Goldberg Syndrome |
|
Narrow chest, Joint stiffness, Apnea, Pectus excavatum, Craniosynostosis, Arachnodactyly, Microgn... |
ORPHA:2462 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... |
ORPHA:2769 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Short neck, Neonatal death, Missing ribs, Lumbar hemivertebrae |
OMIM:619859 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Finger clinodactyly, Osteoporosis, Patellar subluxation, Supernumerary ribs, Coxa valga |
ORPHA:2958 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... |
ORPHA:79345 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Micrognathia, A... |
OMIM:253290 |
| Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... |
ORPHA:1507 |
| 1P36 Deletion Syndrome |
|
Bifid ribs, Rib fusion, Joint stiffness, Clinodactyly of the 5th finger, Kyphosis, Spinal canal s... |
ORPHA:1606 |
| Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Broad hallux phalanx, Abnormal for... |
ORPHA:2876 |
| Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Congenital diaphra... |
ORPHA:958 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... |
ORPHA:98914 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Adducted thumb, Short neck, 11 pairs of ribs, Micromelia |
ORPHA:50810 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
| Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs,... |
ORPHA:3404 |
| Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Decreased hip abduction, Pectus excavatum, Lumbar hyperlordosis, Abnormal rib ca... |
OMIM:114300 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Kyphosis, Sinusitis, Macroglossia, Short neck, Genu valgum... |
ORPHA:583 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Respiratory distress, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shap... |
OMIM:617088 |
| Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Bowing... |
OMIM:619131 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Micrognathia, Neonatal death, Anisospondyly, Bowing of the long bones, Thoracic ... |
OMIM:224410 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Decreased calvarial ossification, Micromelia, Abnormal rib morphology, Joint... |
ORPHA:2772 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Pectus excavatum, Horizontal sacrum, Pectus carinatum, Twelfth rib hypoplasia, Absent frontal sin... |
OMIM:211910 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensibility, Short neck, 11 pairs ... |
OMIM:245600 |
| Focal Dermal Hypoplasia |
|
Diastasis recti, Short clavicles, Congenital diaphragmatic hernia, Short ribs, Split foot, Hand p... |
ORPHA:2092 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Wolf-Hirschhorn Syndrome |
|
Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Split hand, Arachnodactyly, Micrognathia, ... |
ORPHA:280 |
| Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Genu valgum, Partial fusion of tarsal... |
OMIM:305620 |
| Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Osteoporosis, Pectus carinatum, Short thorax, Dyspnea, Skeletal mu... |
ORPHA:87876 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... |
OMIM:252605 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal rib morpholog... |
ORPHA:3035 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Micrognathia, Joint hyperflexibility, Wormian bones, Scoliosis, Ab... |
ORPHA:2050 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Micrognathia, Osteopenia, Broad femoral neck, Wormian bones, Shor... |
ORPHA:85184 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... |
ORPHA:485 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Microretrognathia, Overtubulated long bones |
OMIM:619793 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Micrognathia, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Pallister-Hall Syndrome |
|
Distal shortening of limbs, Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, H... |
OMIM:146510 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Asthma, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple |
ORPHA:544488 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Generalized joint laxity, Micrognathia, Osteopenia, Platyspondyly, Micro... |
OMIM:613848 |
| Baller-Gerold Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... |
OMIM:218600 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Micrognathia, Brachydactyly, Micromelia, Abnormal rib morphology, Split hand, F... |
ORPHA:2145 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, ... |
OMIM:201170 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... |
ORPHA:93317 |
| Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hemivertebrae, Syndactyly, Missing ribs |
OMIM:220210 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... |
ORPHA:93324 |
| Chitayat Syndrome |
|
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Hallux valgus |
OMIM:617180 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... |
OMIM:269150 |
| Cleidocranial Dysplasia |
|
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... |
ORPHA:1452 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Thin ribs, Femoral retroversion, Fem... |
OMIM:610915 |
| Acrofacial Dysostosis 1, Nager Type |
|
Overlapping toe, Short toe, Absent thumb, Hypoplasia of the radius, Absent radius, Micrognathia, ... |
OMIM:154400 |
| Seckel Syndrome 5 |
|
Micrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs |
OMIM:613823 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... |
OMIM:114290 |
| Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Slender long bon... |
OMIM:612921 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Pectus excavatum, Slender long bones with narr... |
ORPHA:536467 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni... |
OMIM:613309 |
| Arthrogryposis Multiplex Congenita 5 |
|
Kyphoscoliosis, Flexion contracture, Adducted thumb, Micrognathia, Short neck, 11 pairs of ribs, ... |
OMIM:618947 |
| Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib... |
ORPHA:3242 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Osteopenia, Short neck, Hyp... |
OMIM:266920 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
| Aspergillosis |
|
Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Abnormality of the vertebral col... |
ORPHA:1163 |
| Seckel Syndrome 1 |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... |
OMIM:210600 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Abnormal rib morphology, Missing ribs, Tetraamelia, ... |
ORPHA:3301 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy |
ORPHA:26792 |
| 3C Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Micrognathia, Hemivertebrae, Short neck, Brachydactyly, S... |
ORPHA:7 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Microretrognathia, Thin ribs, Coronal craniosynostosis, Osteopenia, P... |
OMIM:616294 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... |
OMIM:244460 |
| Cranioectodermal Dysplasia 2 |
|
Narrow chest, Pectus excavatum, Short ribs, Craniosynostosis, Left ventricular hypertrophy, Micro... |
OMIM:613610 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, ... |
ORPHA:175 |
| Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Congenital diaphragmatic hernia, Joint hypermobility, Cone-shaped ... |
OMIM:157800 |
| Moebius Syndrome |
|
Facial diplegia, Respiratory distress, Micrognathia, Short neck, Brachydactyly, Short phalanx of ... |
OMIM:157900 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Clinodactyly of the 5th finger, Short ribs, Small hand, Micrognathia, Trache... |
ORPHA:2108 |
| Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb,... |
ORPHA:3258 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Brachydactyly, Micromelia, Abnormal thorax morphology, Abnormal ri... |
ORPHA:1318 |
| Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Aplasia of the abdom... |
ORPHA:2970 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:241530 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, 11 pairs of ribs... |
OMIM:607872 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Micrognathia, Short neck, Micro... |
OMIM:251230 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... |
OMIM:619334 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Kyphosis, Ankle clonus, Respiratory insufficiency, Hand muscle atrophy, Sco... |
OMIM:211530 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Small hand, Micrognathia, Muscular dystrophy, Upper limb undergrowth, Campt... |
OMIM:608799 |
| Craniometadiaphyseal Dysplasia |
|
Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormian bones, Genu varum, Gen... |
OMIM:269300 |
| Cranioectodermal Dysplasia 1 |
|
Narrow chest, Short distal phalanx of finger, Short toe, Pectus excavatum, Short ribs, Short hume... |
OMIM:218330 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... |
ORPHA:508498 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Limitation of joint mobility, Short metacarpal, Short femur, Undula... |
OMIM:211350 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Micrognathi... |
ORPHA:97360 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
| Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... |
ORPHA:83 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Narrow chest, Thoracic scoliosis, Adducted thumb, Micrognathia, Overlapping fingers,... |
OMIM:617022 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process |
OMIM:609654 |
| Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... |
OMIM:610682 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Micrognathia, Lo... |
OMIM:608149 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Micrognathia, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Sc... |
OMIM:619122 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Micrognathia, Diaphragmatic eventration, 11 p... |
OMIM:620025 |
| Steinfeld Syndrome |
|
Hypoplasia of the radius, Abnormality of the vertebral column, Hypoplasia of the ulna, Phocomelia... |
OMIM:184705 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... |
OMIM:117650 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida ... |
ORPHA:488434 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint stiffness, Brachydactyly, 11 pairs of ribs, Scoliosis, Tracheobronchomalacia, Bicoronal syn... |
OMIM:619184 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... |
OMIM:619636 |
| Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... |
ORPHA:2167 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hemivertebrae, 11 pairs of ribs |
ORPHA:77298 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Thin ribs, Joint hypermobility |
ORPHA:456328 |
| Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Pectus excavatum, Microgna... |
ORPHA:3309 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Flexion contracture, Delayed cranial suture closure, Overl... |
OMIM:619383 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Platyspondyly, Elbow dislocation, Absen... |
OMIM:210710 |
| Mucopolysaccharidosis, Type Vi |
|
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Pneumonia, ... |
OMIM:253200 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Wolf-Hirschhorn Syndrome |
|
Rib fusion, Preaxial foot polydactyly, Abnormal sternal ossification, Kyphosis, Micrognathia, Pse... |
OMIM:194190 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Opsismodysplasia |
|
Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Hypoplastic... |
OMIM:258480 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Arachnodactyly, Camptodactyly of finger, Prominent metopic ridge, Sco... |
ORPHA:2215 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... |
ORPHA:254528 |
| Tbck-Related Intellectual Disability Syndrome |
|
Diastasis recti, Asthma, Pectus excavatum, 2-3 toe syndactyly, Macroglossia, Prominent metopic ri... |
ORPHA:488632 |
| Schwartz-Jampel Syndrome |
|
Apnea, Pectus excavatum, Abnormally ossified vertebrae, Short neck, Micromelia, Platyspondyly, Pe... |
ORPHA:800 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Pectus excavatum, Macroglossia, Flexion contracture, Flared iliac wing, Met... |
OMIM:617303 |
| Osteoglophonic Dysplasia |
|
Broad metacarpals, Respiratory distress, Broad phalanx, Craniosynostosis, Short neck, Platyspondy... |
OMIM:166250 |
| Zttk Syndrome |
|
Rib fusion, Kyphosis, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... |
OMIM:617140 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus excavatum, Short sternum, 2-3 finger syndactyly, Pectus carinatum, Diastasis recti, Short ... |
OMIM:312870 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hy... |
ORPHA:544503 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Dyspn... |
ORPHA:142 |
| Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Micrognathia, Campto... |
ORPHA:96061 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Midclavicular aplasia, Diastasis recti, Short ribs, Scoliosis, Short ... |
OMIM:305600 |
| Cantú Syndrome |
|
Narrow chest, Short distal phalanx of finger, Broad hallux phalanx, Short neck, Platyspondyly, Sh... |
ORPHA:1517 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumot... |
ORPHA:454836 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
| Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... |
ORPHA:3472 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bod... |
OMIM:230500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Dyspnea, Neonatal death, Tachypnea, Cough, Death in infan... |
OMIM:610921 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar... |
OMIM:252930 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the... |
OMIM:601559 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Hypoplasia of the musculature, Joint hypermobility, Thin ribs, Abnormal bone os... |
ORPHA:2463 |
| Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Rhinitis, Macroglossia, Camptodactyly of fin... |
ORPHA:93473 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Preaxial hand polydactyly |
OMIM:601389 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Narrow chest, Respiratory distress, Tracheomalacia, Micrognathia, Short neck, Syndactyly, Brachyd... |
OMIM:217980 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Xylt1-Cdg |
|
Short clavicles, Joint dislocation, Flared metaphysis, Short femoral neck, Broad thumb, Broad rib... |
ORPHA:370930 |
| Farber Disease |
|
Respiratory distress, Joint swelling, Short toe, Abnormal sternum morphology, Flexion contracture... |
ORPHA:333 |
| Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... |
ORPHA:63260 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Hypoplastic pelvis, Hypoplastic s... |
OMIM:618022 |
| Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Microretrognathia, Thin ribs, Flexion contracture, Micrognathia, Wide cranial su... |
OMIM:614008 |
| Trisomy 1Q |
|
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly of finger, Abno... |
ORPHA:261344 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Craniosynostosis, Micrognathia, Camptodacty... |
ORPHA:2554 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Macroglossia, Finger joint hypermobility, Osteopenia, Scoliosis, Osteoporos... |
ORPHA:363705 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... |
OMIM:269500 |
| Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... |
ORPHA:90652 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... |
ORPHA:249 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Tachypnea, Bell-shaped thorax, Horizontal ribs, Pulmonary arterial hypertension |
OMIM:614857 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Genu recurvatum, M... |
OMIM:182212 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Narrow chest, Short ribs, Micrognathia, Respiratory insufficiency, Micromelia, Abnormal pelvis bo... |
ORPHA:93271 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
| Leopard Syndrome 1 |
|
Kyphoscoliosis, Pectus excavatum, Short neck, Pectus carinatum, Limited elbow movement, Spina bif... |
OMIM:151100 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
| Vacterl/Vater Association |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Finger syndactyly, Abnormal rib m... |
ORPHA:887 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... |
OMIM:618469 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... |
ORPHA:226313 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Microgna... |
ORPHA:254519 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Butterfly vertebrae, Right ventricular hypertrophy, Micrognathia, Posterior rib ... |
OMIM:265380 |
| Cartilage-Hair Hypoplasia |
|
Narrow chest, Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Prominent sternum, Asymmetry... |
OMIM:250250 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
| Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... |
OMIM:304150 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Micrognathia, Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split han... |
ORPHA:1300 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, ... |
ORPHA:3206 |
| Wiedemann-Steiner Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Tapered finger, Rhizomelia, Aplasia/Hypoplasia ... |
ORPHA:319182 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
| Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Hypoplastic pelvis, Cubitus valgus, B... |
OMIM:114620 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
| Trisomy 13 |
|
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:3378 |
| Multiple Carboxylase Deficiency |
|
Respiratory distress, Limb muscle weakness, Tachypnea |
ORPHA:148 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Mi... |
ORPHA:52 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Adducted thumb, Microretrognathia, Rocker bottom foot |
ORPHA:89844 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Micrognathia, Osteopenia, Scoliosis, Contractures of the large joints |
ORPHA:329178 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Aplasia/Hypoplasia of the tibia, Abnormal thorax morphology, Postaxial foot polyda... |
OMIM:601027 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... |
OMIM:308205 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Vertebral segmentation defect, Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia o... |
ORPHA:3186 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Th... |
OMIM:608013 |
| Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Micromelia, Biconc... |
ORPHA:666 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... |
OMIM:276820 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Radial head subluxation, Polydactyly affecting the 4th finger, Polydactyly affecti... |
ORPHA:672 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... |
ORPHA:500150 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Jacobsen Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Flexion contracture, Micrognathia, Short neck, ... |
OMIM:147791 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory ins... |
OMIM:615512 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Joint stiffness, Airway obstruction, Lumbar hyperlordosis, Macroglossia, Fl... |
ORPHA:505248 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Gracile Bone Dysplasia |
|
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Decreased skull ossification |
OMIM:602361 |
| Gm1 Gangliosidosis Type 1 |
|
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Macro... |
ORPHA:79255 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Congenital diaphragmatic hernia |
OMIM:606164 |
| Diamond-Blackfan Anemia 1 |
|
Narrow chest, Absent thumb, Hypoplastic coccygeal vertebrae, Hypoplasia of the radius, Hypoplasti... |
OMIM:105650 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
| Myhre Syndrome |
|
Joint stiffness, Large iliac wing, Skeletal muscle hypertrophy, Abnormality of the pubic bone, Br... |
ORPHA:2588 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Hemivertebrae, 11 pairs of ribs, Postaxial hand polydactyly, Postaxial foot p... |
OMIM:264480 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
| 6Q Terminal Deletion Syndrome |
|
Micrognathia, Prominent metopic ridge, Short neck, Scoliosis, Aplasia/Hypoplasia of the ribs, Hal... |
ORPHA:75857 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Craniosynostosis, Small hand, Delayed cranial suture closure... |
OMIM:620005 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Abnormal muscle glycogen content, Flexion contracture, Respiratory insuffic... |
ORPHA:367 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Osteopetrosis, Death in childhood, Abnormal trabecular bone morphology, D... |
OMIM:612301 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Respiratory insufficiency, Acute respiratory distress syndrome, Thin ribs |
OMIM:617397 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Thoracic scoliosis, Left ventricular hypertrophy, Overlapping finger... |
ORPHA:79330 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Epiphyseal dysplasia, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral ... |
OMIM:252940 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Micrognathia, Prominent metopic ridge, Polydac... |
ORPHA:314655 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Broad carpal bones, Short neck, Metaphyseal ch... |
ORPHA:99646 |
| Meconium Aspiration Syndrome |
|
