| Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... |
ORPHA:2345 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... |
OMIM:122600 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... |
OMIM:277300 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, S... |
ORPHA:66637 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis |
ORPHA:93302 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
| Wildervanck Syndrome |
|
Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae |
ORPHA:3456 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... |
ORPHA:3268 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... |
ORPHA:2777 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Short thorax, Myelomeningocele, Abnormal odontoid process morphology, Bell-shape... |
OMIM:613686 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... |
ORPHA:1797 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... |
OMIM:606842 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis, Camptodactyly of finger |
ORPHA:3180 |
| Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... |
OMIM:604864 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Scoli... |
OMIM:184255 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... |
ORPHA:163665 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... |
OMIM:601216 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... |
ORPHA:40 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Shoulder girdle muscle atrophy, Rib fusion, Supernumerary ribs, Pectus excavatu... |
ORPHA:64755 |
| Spondylosis, Cervical |
|
Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta |
OMIM:184300 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camptodactyly o... |
ORPHA:2311 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... |
ORPHA:1801 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri... |
ORPHA:1354 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... |
OMIM:618469 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Hyperlordosis, Spinal cord compression, Abnormal rib mo... |
ORPHA:2522 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... |
ORPHA:2790 |
| Wildervanck Syndrome |
|
Pseudopapilledema, Fused cervical vertebrae |
OMIM:314600 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interverte... |
OMIM:609223 |
| Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short thorax, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Neonatal death |
OMIM:611369 |
| Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Spina bifida |
ORPHA:64754 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
| Caudal Duplication |
|
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ... |
ORPHA:1756 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Short... |
OMIM:118100 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... |
OMIM:259440 |
| Kniest Dysplasia |
|
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:485 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Elbow ... |
OMIM:606612 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Spina bifida, Small thenar eminence, Ca... |
OMIM:211960 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... |
OMIM:187760 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... |
OMIM:102510 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia/Hyp... |
ORPHA:1149 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Sy... |
ORPHA:268882 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Tho... |
OMIM:616549 |
| Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... |
ORPHA:2635 |
| Avascular Necrosis Of Femoral Head, Primary, 2 |
|
Platyspondyly |
OMIM:617383 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Pectus carinatum, Narrow chest, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... |
ORPHA:1327 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... |
ORPHA:1836 |
| Atelosteogenesis, Type I |
|
Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Stillbirth, Thoracic plat... |
OMIM:108720 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Acropectorovertebral Dysplasia |
|
Synostosis of carpal bones, Camptodactyly of finger, Spina bifida, Pectus excavatum, Tarsal synos... |
ORPHA:957 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... |
OMIM:615220 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Widened interpedicular distance |
OMIM:146000 |
| Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited... |
OMIM:305620 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Sho... |
OMIM:265000 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Pectus carinatum, Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal ... |
OMIM:178110 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cervica... |
OMIM:618000 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Tho... |
ORPHA:313892 |
| Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... |
OMIM:619227 |
| Symbrachydactyly Of Hands And Feet |
|
Scoliosis, Abnormality of the humeroulnar joint, Vertebral segmentation defect |
ORPHA:1570 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib ... |
ORPHA:1988 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... |
OMIM:601344 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Death in infancy, Vertebral segmentation defect, Spina bifida, A... |
ORPHA:1120 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc... |
OMIM:609052 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... |
OMIM:113000 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Verheij Syndrome |
|
Branchial cyst, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip ... |
OMIM:615583 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Lumbar hyperlord... |
ORPHA:2839 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Hyper... |
OMIM:607155 |
| Ulnar Hemimelia |
|
Hypoplastic scapulae, Abnormality of the humeroulnar joint, Limited elbow flexion, Carpal synosto... |
ORPHA:93320 |
| Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae, Holoprosencephaly, ... |
ORPHA:1445 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula... |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregular vertebr... |
OMIM:618395 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... |
OMIM:184100 |
| Lateral Meningocele Syndrome |
|
Dural ectasia, Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Biconc... |
OMIM:130720 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon... |
ORPHA:93352 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Vertebral segmentation defect |
ORPHA:1104 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi... |
ORPHA:96183 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Pectus carinatum, Vertebral wedging, Genu valgum, Bell-shaped thorax, Kyphoscoliosis |
OMIM:255710 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Horizontal ribs, Death in infancy, Short ribs, Trident acetabulum... |
OMIM:617405 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi... |
OMIM:312150 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Persistent open anterior fontanelle, Cervical ribs, Short neck, Vert... |
ORPHA:2332 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Arthrogryposis multiplex c... |
ORPHA:2990 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Hip dislocation, Spinal dysraphism, Laryngotracheomalacia, Genu valgu... |
OMIM:603546 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Upper limb muscle weakness |
ORPHA:370010 |
| Metatropic Dysplasia |
|
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ... |
OMIM:156530 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos... |
ORPHA:85198 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
| Greenberg Dysplasia |
|
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... |
ORPHA:1426 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility |
OMIM:617333 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... |
OMIM:135100 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Short neck, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3319 |
| Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Spina bifida, Pectus excavatum, Spina bifida occulta, Scol... |
ORPHA:3219 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... |
OMIM:612852 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi... |
OMIM:253290 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... |
ORPHA:337 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Hypoplasia of the musculature, Interphalangeal joint contracture o... |
ORPHA:1826 |
| Cerebrofaciothoracic Dysplasia |
|
Rib fusion, Narrow chest, Sprengel anomaly, Bifid ribs |
ORPHA:1394 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis |
OMIM:602271 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Short ribs, Supernumerary ribs, D... |
OMIM:109400 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... |
OMIM:271650 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... |
OMIM:617796 |
| Bruck Syndrome 1 |
|
Platyspondyly, Pectus carinatum, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow f... |
OMIM:259450 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Abnormality of t... |
ORPHA:915 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Facial hypotonia, Short neck, Spina bifida |
OMIM:620439 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hydrocepha... |
ORPHA:377 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... |
ORPHA:93351 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... |
OMIM:151200 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Patellar hypoplasia, Quadriceps aplasia, Biceps aplasia, Lumbar hyperlordosis, A... |
OMIM:161200 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Ankle pain, Limited hip movement, Premature osteoarthritis, G... |
ORPHA:93311 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Abnormality of bone mineral density, Facial palsy |
ORPHA:1114 |
| Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... |
ORPHA:1724 |
| Amish Lethal Microcephaly |
|
Optic atrophy, Limitation of joint mobility, Death in infancy, Decreased skull ossification, Limb... |
ORPHA:99742 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypermobility of interphalangeal joints, Optic nerve hypoplasia, Thoracic hemivertebrae, Thoracic... |
ORPHA:508498 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Congenital muscular torticollis, Hypopl... |
ORPHA:2916 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal rib mor... |
ORPHA:1486 |
| Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Aganglionic megacolon, Small thenar eminence, Shoulder dislocation, Spina ... |
OMIM:607323 |
| Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... |
OMIM:304050 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Sprengel anomaly, Spina bifida, Meningocele, Scoliosis |
ORPHA:894 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Osteoporosis, Vertebral compression fracture, Recurrent fractures, Bone pain |
ORPHA:85193 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Osteopenia, Shallow acetabular fossae, Butterfly vertebrae, Thoracic scoliosis... |
OMIM:611209 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis |
OMIM:614688 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hi... |
ORPHA:3320 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Umbilical hernia, Narrow vertebral interpedicular distance, Short neck, Ovoid vert... |
OMIM:269250 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Limb hypertonia, Osteoporosis, ... |
OMIM:617190 |
| Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Patchy distortion of vertebrae |
OMIM:155050 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pectus excavatum, Scoliosis |
OMIM:618155 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida, Spina bifida occulta, Pos... |
ORPHA:2437 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Congenital diaphragmatic hernia, Syringomyelia, Rib fusion, Cranio... |
ORPHA:261197 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs |
OMIM:614524 |
| Larsen Syndrome |
|
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca... |
OMIM:150250 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v... |
OMIM:609616 |
| Neural Tube Defects, Susceptibility To |
|
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Spina bifida occulta, ... |
OMIM:182940 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Hydranencephaly, Tracheomalacia, Myelomeningocele, Bell-shaped thorax, Death i... |
ORPHA:1393 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Vertebral segmentation defect, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:1926 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology |
ORPHA:280195 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne... |
ORPHA:93267 |
| Fanconi Anemia, Complementation Group I |
|
Short neck, Optic nerve hypoplasia, Fused cervical vertebrae |
OMIM:609053 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... |
ORPHA:90650 |
| White Forelock With Malformations |
|
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... |
ORPHA:2475 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar d... |
OMIM:253000 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasi... |
ORPHA:168549 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Gene... |
OMIM:617952 |
| Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, ... |
ORPHA:261318 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Wormian bones, Flat acetabular roof, Fused cervical vertebrae |
OMIM:617159 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae, Comm... |
ORPHA:1780 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... |
ORPHA:628 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib... |
OMIM:206900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Carpal synostosis, Abnormal shoulder morphology, Cervical ribs, Patellar a... |
OMIM:274000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... |
OMIM:184252 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... |
OMIM:203500 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... |
ORPHA:582 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Syringomyelia, Hydrocephalus, Spina ... |
OMIM:207950 |
| Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Myelomeningocele,... |
ORPHA:90652 |
| Iniencephaly |
|
Spinal dysraphism, Absent vertebra, Arthrogryposis multiplex congenita, Myelomeningocele, Encepha... |
ORPHA:63259 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow vertebral interpedicular distance, Short neck, Scoliosis |
OMIM:620073 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Joint hypermobility, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel ... |
OMIM:213980 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, Hypoplastic vertebral b... |
ORPHA:3027 |
| Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:1703 |
| Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2319 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp... |
OMIM:602196 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat... |
OMIM:253310 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Advanced tarsal ossification, Short ribs, Generalize... |
OMIM:215045 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... |
ORPHA:2180 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Wormian bones, Osteo... |
OMIM:619131 |
| Achondrogenesis Type 1B |
|
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ... |
ORPHA:93298 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... |
ORPHA:1145 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... |
OMIM:272460 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b... |
OMIM:184250 |
| Fibular Hemimelia |
|
Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Joint stiff... |
ORPHA:93323 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
| Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... |
ORPHA:50 |
| Acromesomelic Dysplasia 1 |
|
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... |
OMIM:602875 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... |
ORPHA:2759 |
| Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Camptodactyly of finger, Myelomeningocele, Pterygium, Join... |
ORPHA:2876 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... |
OMIM:608728 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave vertebral bo... |
OMIM:259420 |
| Myhre Syndrome |
|
Platyspondyly, Vertebral fusion, Enlarged vertebral pedicles, Short neck |
OMIM:139210 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Camptodactyly of finger, Supernumerary ribs, Sho... |
ORPHA:99776 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Vertebral arch anomaly |
ORPHA:85184 |
| Alagille Syndrome |
|
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... |
ORPHA:52 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... |
OMIM:166210 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook |
OMIM:615633 |
| Femoral-Facial Syndrome |
|
Absent vertebra, Hypoplastic acetabulae, Dysplastic sacrum, Camptodactyly of finger, 11 pairs of ... |
OMIM:134780 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Joint hypermobility, Ankle... |
OMIM:613776 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thoracic hemivertebrae, Delayed cranial suture closure, Short neck, Thoracolumbar scoliosis, Disl... |
OMIM:268310 |
| Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Abnormality of the vertebral column, Thoracic hypoplasia, Myelo... |
ORPHA:2369 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral a... |
OMIM:148050 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Neonatal death, Death in adolescence, Stillbirth, Camptodactyly, Scoliosis |
OMIM:619751 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Pectus ca... |
OMIM:101200 |
| Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Optic atrophy, Hydrocephalus, Vertebral segmentation defect |
ORPHA:87 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Decreased skull ossification, ... |
ORPHA:2097 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida |
OMIM:193500 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Umbilical hernia, Enlarged vertebral pe... |
ORPHA:666 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Joint stiffness, Down-sloping shoulders, Radioulnar synostosis, Spr... |
ORPHA:392 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Spina bifida, Hemive... |
ORPHA:3412 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Reduced bone mineral density, Joint hypermobility, Mis... |
ORPHA:1488 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ... |
OMIM:602111 |
| Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Narrow chest, Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of th... |
ORPHA:175 |
| Autosomal Recessive Robinow Syndrome |
|
Pectus carinatum, Synostosis of carpal bones, Elbow dislocation, Umbilical hernia, Camptodactyly ... |
ORPHA:1507 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... |
ORPHA:2021 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Wormian bones, Abnormal rib... |
ORPHA:2050 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... |
ORPHA:239 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral... |
OMIM:271510 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont... |
OMIM:177170 |
| Achondrogenesis Type 1A |
|
Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short n... |
ORPHA:93299 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Sirenomelia |
|
Absence of the sacrum, Sirenomelia, Spina bifida |
ORPHA:3169 |
| Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dens... |
OMIM:252900 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures... |
OMIM:616229 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae, Tethered cord |
OMIM:617660 |
| Achondroplasia |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Spinal sten... |
OMIM:100800 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Vertebral segmentation defect, Joint hypermobility, Pectus excavatum, Vertebral fusion,... |
ORPHA:96169 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Trache... |
OMIM:234100 |
| Neu-Laxova Syndrome 2 |
|
Short neck, Scoliosis, Spina bifida |
OMIM:616038 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum |
OMIM:609654 |
| Neu-Laxova Syndrome |
|
Osteopenia, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Rickets, A... |
ORPHA:2671 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Optic atrophy, Tethered cord, Abnormality of the vertebral column,... |
ORPHA:280 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Decreased muscle mass, Elbow contracture, Hip contracture, Camptodact... |
OMIM:617137 |
| Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain... |
OMIM:600145 |
| 3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Delayed skeletal maturation, Increased vertebral height, H... |
ORPHA:2616 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Short ribs, Wide-cupped costochond... |
OMIM:187601 |
| Phakomatosis Pigmentokeratotica |
|
Hypophosphatemic rickets, Scoliosis, Spina bifida, Rhabdomyosarcoma |
ORPHA:2874 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... |
OMIM:151210 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, 11 pairs of ribs, Platyspondyly, Decreased skull ossification |
OMIM:300863 |
| Koolen-De Vries Syndrome |
|
Hip dislocation, Spondylolisthesis, Joint hypermobility, Hypotrophy of the small hand muscles, Pe... |
OMIM:610443 |
| Pde4D Haploinsufficiency Syndrome |
|
Caudal interpedicular narrowing, Irregular vertebral endplates |
ORPHA:439822 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... |
ORPHA:63260 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:223800 |
| Cartilage-Hair Hypoplasia |
|
Narrow vertebral interpedicular distance, Lumbar hyperlordosis, Hypoplasia of the odontoid proces... |
OMIM:250250 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Joint hyper... |
ORPHA:2484 |
| Cardiospondylocarpofacial Syndrome |
|
Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles, Herniation of inte... |
OMIM:157800 |
| Cloacal Exstrophy |
|
Myelomeningocele, Hip dislocation, Spina bifida, Hemivertebrae |
ORPHA:93929 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m... |
ORPHA:93346 |
| Humero-Radial Synostosis |
|
Limitation of joint mobility, Elbow dislocation, Abnormality of the wrist, Tarsal synostosis, Elb... |
ORPHA:3265 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Optic atrophy, Tracheomalacia |
OMIM:616368 |
| Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Abnormal rib morphology,... |
ORPHA:474 |
| Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrop... |
OMIM:218600 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recu... |
OMIM:616294 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar deviation of the wr... |
OMIM:253010 |
| Pallister-Hall Syndrome |
|
Neonatal death, Rib fusion, Radial head subluxation, Hemivertebrae, Holoprosencephaly, Hip disloc... |
OMIM:146510 |
| Sillence Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl... |
ORPHA:3168 |
| Cog1-Cdg |
|
Posterior rib gap, Osteopenia, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect... |
ORPHA:263508 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Cer... |
ORPHA:79345 |
| Robinow Syndrome |
|
Umbilical hernia, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Fused thoracic vertebr... |
ORPHA:97360 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Osteopenia, Recurrent fractures, Barrel-shaped chest, Decreased skull o... |
OMIM:610915 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Narrow vertebral interpedicular distance, Scoliosis, Spinal canal stenosis, Hypoplastic vertebral... |
OMIM:101800 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Platyspondyly, Narrow chest, Osteopenia, Thoracic hypoplasia, Broad ribs, Genu valgum,... |
OMIM:613848 |
| Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... |
OMIM:252930 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Shor... |
ORPHA:2092 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... |
ORPHA:174 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria |
OMIM:252920 |
| Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Tethered cord, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... |
OMIM:194190 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Thickened ribs, Craniofacial osteosclerosis, Cortical sclerosis |
OMIM:122860 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Otopalatodigital Syndrome, Type Ii |
|
Platyspondyly, Congenital hip dislocation, Spondylolysis, Narrow chest, Undulate clavicles, Still... |
OMIM:304120 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Scoliosis, Tethered cord |
OMIM:612918 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies |
OMIM:620601 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... |
ORPHA:2347 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... |
ORPHA:2970 |
| Dysosteosclerosis |
|
Platyspondyly, Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull b... |
OMIM:224300 |
| Zttk Syndrome |
|
Optic atrophy, Cervical ribs, Joint hypermobility, Rib fusion, Hemivertebrae, Craniosynostosis, F... |
OMIM:617140 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Platyspondyly, Hypoplastic scapulae, Joint contracture of the hand, Widely patent coro... |
OMIM:228520 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Abnormal sternum morphology, Radioulnar s... |
OMIM:192350 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum |
OMIM:619122 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Mucopolysaccharidosis Type 6 |
|
Broad ribs, Joint stiffness, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... |
ORPHA:1834 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Cervical C5/C6 vertebrae fusion, Facial hypotonia, Short neck, Small thenar eminence, Camptodacty... |
OMIM:613458 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Camptodactyly,... |
OMIM:227330 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge... |
ORPHA:83617 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Kyphos... |
OMIM:300232 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Macroglossia, Umbilical hernia, Camptodactyly of finger, Congenital d... |
ORPHA:373 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... |
ORPHA:3258 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Sacral dimple |
ORPHA:544488 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Hyperlordosis, Abnor... |
ORPHA:3068 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology |
ORPHA:3082 |
| Neurofibromatosis, Type I |
|
Genu valgum, Hydrocephalus, Spina bifida, Pectus excavatum, Aqueductal stenosis, Rhabdomyosarcoma... |
OMIM:162200 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Delayed skeletal maturation, Lumbar hyperlordosis, Short neck, Hyper... |
OMIM:612921 |
| Pagod Syndrome |
|
Optic atrophy, Abnormal clavicle morphology, Encephalocele, Congenital diaphragmatic hernia, Deat... |
ORPHA:991 |
| Trisomy 18 |
|
Delayed skeletal maturation, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifi... |
ORPHA:3380 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hypermobility, Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology |
ORPHA:2772 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina ... |
ORPHA:233 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... |
ORPHA:958 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Pectus carinatum, Dural ectasia, Joint dislocation, Tracheomalacia, Cervical spina... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Pectus carinatum, Dural ectasia, Joint dislocation, Tracheomalacia, Cervical spina... |
ORPHA:363958 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
| Jacobsen Syndrome |
|
Abnormal form of the vertebral bodies, Death in infancy, Missing ribs, Short neck, Spina bifida, ... |
ORPHA:2308 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Large placenta, Short neck, Ante... |
ORPHA:96334 |
| Cantú Syndrome |
|
Platyspondyly, Narrow chest, Delayed skeletal maturation, Umbilical hernia, Broad ribs, Cuboid-sh... |
ORPHA:1517 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Myelopathy, Beaking of vertebral bo... |
OMIM:252500 |
| Holzgreve Syndrome |
|
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Decreased sku... |
OMIM:616897 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth |
OMIM:152800 |
| 1P36 Deletion Syndrome |
|
Rib fusion, 11 pairs of ribs, Bifid ribs |
ORPHA:1606 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... |
OMIM:252600 |
| Gm1-Gangliosidosis, Type I |
|
Joint stiffness, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis... |
OMIM:230500 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal form of the vertebral bodies, Elbow dislocation, Recurrent fractures,... |
ORPHA:2769 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Osteopenia, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, De... |
OMIM:620076 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Joint hypermobility, Cupped ri... |
OMIM:250420 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Abnormal sternum morphology, Umbilical hernia, Osteochondritis dissecans, Int... |
OMIM:619656 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... |
OMIM:618019 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology |
ORPHA:2643 |
| Hypophosphatasia |
|
Craniosynostosis, Narrow chest, Recurrent fractures, Abnormal rib morphology |
ORPHA:436 |
| Greenberg Dysplasia |
|
Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Barrel-shaped chest,... |
OMIM:215140 |
| Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs |
OMIM:200610 |
| Mosaic Trisomy 8 |
|
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ... |
ORPHA:96061 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Ma... |
ORPHA:444077 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocephalus, Stillbirth, Aq... |
OMIM:276950 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... |
OMIM:184253 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K... |
OMIM:143095 |
| Poland Syndrome |
|
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... |
ORPHA:2911 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Torticollis, Unilateral facial palsy, Scoliosis, Tethered cord |
OMIM:619480 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Genu valgum, Down-sloping shoulders, Short clavicles, Decreas... |
ORPHA:1452 |
| Aneurysm-Osteoarthritis Syndrome |
|
Pectus carinatum, Dural ectasia, Umbilical hernia, Camptodactyly of finger, Osteochondritis disse... |
ORPHA:284984 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Ante... |
OMIM:253220 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital ... |
ORPHA:268810 |
| Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Abnormal form of the vertebral bodies, Branchial anomaly, Encep... |
ORPHA:2162 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol... |
OMIM:269300 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Congenital diaphragmatic hernia, Vertebral segmentation defect, Abnormal... |
ORPHA:887 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Rib fusion, 11 pairs of ribs, Bifid ribs |
OMIM:607872 |
| Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly |
ORPHA:163966 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Delayed skeletal maturation, Accelerate... |
ORPHA:93317 |
| Renpenning Syndrome |
|
Pectus excavatum, Joint stiffness, Sprengel anomaly, Abnormal rib morphology |
ORPHA:3242 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Cervical ribs, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis, Rib fusi... |
ORPHA:500150 |
| Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Vertebral fusion, Optic disc coloboma, Vertebral segmentation defect |
ORPHA:959 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Narrow chest, Abnormal form of the vertebral bodies, Abnormal thorax morphology, Abnor... |
ORPHA:73230 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae... |
OMIM:253200 |
| Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Joint contracture of the hand, Small placenta, Pterygium, Short umbilical cord, ... |
OMIM:256520 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Unossified sacrum, Sclerosis of skull base, Horizontal rib... |
ORPHA:3003 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum, Increased cup-to-disc ratio |
OMIM:211380 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Patellar dislocation, Multiple suture craniosynostosis, Umbilical hernia, Abnormal... |
ORPHA:567 |
| X-Linked Hypophosphatemia |
|
Rachitic rosary, Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Enthesitis, G... |
ORPHA:89936 |
| Radio-Renal Syndrome |
|
Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3015 |
| Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Delayed skeletal maturation, Down-sloping shoulders, Posterior rib fusion, Scol... |
OMIM:620568 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ... |
ORPHA:93473 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Death in childhood, Hypoplasia of the diaphragm, Joint hypermobi... |
OMIM:614437 |
| Antley-Bixler Syndrome |
|
Narrow chest, Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ank... |
ORPHA:83 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Thoracic hypoplasia, Pterygium, Undulate ribs, Anter... |
OMIM:211350 |
| Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Stippled calcification of ... |
ORPHA:51608 |
| Acromesomelic Dysplasia 4 |
|
Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora... |
OMIM:619636 |
| Trisomy 13 |
|
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology |
ORPHA:3378 |
| Rubinstein-Taybi Syndrome 1 |
|
Delayed skeletal maturation, Delayed cranial suture closure, Joint hypermobility, Spina bifida, P... |
OMIM:180849 |
| Occipital Horn Syndrome |
|
Platyspondyly, Broad clavicles, Pectus carinatum, Narrow chest, Persistent open anterior fontanel... |
OMIM:304150 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Butterfly vertebrae, Diastasis recti, Neonatal death, Syringomyelia, Posterior rib fusion, Right ... |
OMIM:265380 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Myelomeningocele, Hydrocephal... |
OMIM:306955 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Elbow flexion contracture, Hip cont... |
OMIM:620369 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Delayed skeletal maturation, Decreased skull ossification, Delayed closure of the ante... |
OMIM:244460 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Short neck, Sprengel anomaly, Protrusi... |
ORPHA:800 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Delayed skeletal maturation, Delayed cranial suture closure, Decreased skull ossificat... |
ORPHA:93324 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Narrow chest, Delayed cranial suture closure, Decreased calvarial ossification, Multi... |
OMIM:610682 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... |
OMIM:224690 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Pectus carinatum, Joint contracture of the hand, Osteopenia, Genu recurvatum, Umbilica... |
OMIM:182212 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3301 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook |
OMIM:617895 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Abnormal rib morphology |
ORPHA:2145 |
| Fanconi Anemia |
|
Umbilical hernia, Reduced bone mineral density, Aganglionic megacolon, Hydrocephalus, Spina bifid... |
ORPHA:84 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Carpal synostosis, Genu valgum, Short neck, Radial head subluxation, Advanced ossification of car... |
OMIM:271640 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... |
OMIM:614008 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Narrow chest, Small hypothenar eminence, Elbow dislocation, Aplasia of the ... |
OMIM:142900 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Abnormal rib morphology, Umbilical hernia, Joint hypermobili... |
ORPHA:77301 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology |
ORPHA:1300 |
| Aspergillosis |
|
Osteomyelitis, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
| Pallister-Hall Syndrome |
|
Umbilical hernia, Rib fusion, Distal arthrogryposis, Radial head subluxation, Hemivertebrae, Holo... |
ORPHA:672 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long clavicles, Flexion contracture |
OMIM:608149 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita, Decreased calvarial ossification |
OMIM:618265 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Hemivertebrae |
OMIM:118450 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Umbilical hernia, Large placenta, Joint hypermobility, Prominent sternum, Fl... |
ORPHA:254528 |
| Loeys-Dietz Syndrome 3 |
|
Osteopenia, Hip osteoarthritis, Dural ectasia, Pectus carinatum, Abnormal sternum morphology, Umb... |
OMIM:613795 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Osteopenia, Lumbar hemivertebrae, Delayed skeletal maturation, Joint hypermobility, Ab... |
ORPHA:2463 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Arthrogryposis multiplex congenita, Camptodactyly of finger, Abnormal rib morphology, Pectus exca... |
ORPHA:2215 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Delayed skeletal maturation, Short neck, Abnormal rib... |
ORPHA:488434 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Elbow flexion contra... |
OMIM:200980 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Platyspondyly, Pectus carinatum, Narrow chest, Hypoplasia of the odontoid process, Atlantoaxial i... |
OMIM:271665 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Joint hypermobility |
ORPHA:456328 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Delayed ossification of carpal bones, Lumbar hyperlordosis, Short... |
OMIM:607778 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Coat hanger sign of ribs, Thoracic hypoplasia, Umbilical hernia |
ORPHA:254534 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Stiff neck, Broad ribs, Thoracic scoliosis, Short neck |
OMIM:617022 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Humeroradial s... |
ORPHA:95699 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Multiple prenatal fractures, Flexion contracture, Arthrogr... |
ORPHA:171430 |
| Sclerosteosis 1 |
|
Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Sclerotic scapulae |
OMIM:269500 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Platyspondyly, Cleft vertebral arch, Short neck |
OMIM:210710 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Block vertebrae, Occipital encephalocele, Cervical ribs, Genu v... |
OMIM:164210 |
| Kagami-Ogata Syndrome |
|
Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Kyphoscoli... |
ORPHA:254519 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Delayed skeletal maturation, Delayed cranial suture closure, Elbow flexion contr... |
OMIM:151050 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Rickets, Osteomalacia, Pathologic fracture, Abnormal lumbar spine m... |
ORPHA:249 |
| Mucopolysaccharidosis, Type Iiid |
|
Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vert... |
OMIM:252940 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Joint stiffness, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies |
OMIM:608940 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Camptodactyly of 2nd-5th fingers,... |
OMIM:600920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Acetabular spurs, Horizontal ribs, Short ribs, Scoliosis, Lateral clavicle hook |
OMIM:613091 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, L... |
OMIM:263520 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Congenital contracture, Thoracic hypoplasia, Decreased muscle mass, Camptodactyly of f... |
OMIM:208150 |
| Atypical Werner Syndrome |
|
Chondrocalcinosis, Limitation of joint mobility, Skeletal muscle atrophy, Sclerosis of hand bone,... |
ORPHA:79474 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed skeletal maturation, Delayed cranial suture closure, Cervical ribs, Wormian bo... |
OMIM:601812 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... |
OMIM:117650 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Acetabular spurs, Genu valgum, Horizontal ribs, Short ribs, Capit... |
OMIM:225500 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies |
ORPHA:85167 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Hydrocephalus, Abnorma... |
ORPHA:1647 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Umbilical hernia, Undulate ribs, Short ribs, ... |
OMIM:618188 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Delayed skeletal maturation |
OMIM:614857 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Delayed epiphyseal ossification, Narrow chest, 11 pairs of ribs, Short ribs, Cuppe... |
OMIM:250220 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical her... |
ORPHA:581 |
| Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlordosis, Scoliosis |
OMIM:277600 |
| Trisomy 1Q |
|
Abnormal rib morphology, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus,... |
ORPHA:261344 |
| Xylt1-Cdg |
|
Joint dislocation, Broad ribs, Joint hypermobility, Short clavicles, Accelerated skeletal maturation |
ORPHA:370930 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Talipes valgus, Pathologic fracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:601559 |
| Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Pectus carinatum, Osteopenia, Umbilical hernia, Talipes valgus, Joint stiffness, G... |
ORPHA:309282 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Progressive congenital scoliosis, Platyspondyly, Osteopenia, Joint dislocation, Congen... |
OMIM:225400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Joint hypermobility |
OMIM:300219 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalaci... |
OMIM:300373 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal joint morphology |
ORPHA:322 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Broad clavicles, Elbow flexion contracture, Broad ribs, Carpal bone aplasia, Hu... |
OMIM:276820 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Posterior rib cupping, Lumba... |
OMIM:300106 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Short neck, ... |
OMIM:269860 |
| Weill-Marchesani Syndrome 2 |
|
Delayed skeletal maturation, Umbilical hernia, Spinal canal stenosis, Broad ribs, Lumbar hyperlor... |
OMIM:608328 |
| Myhre Syndrome |
|
Platyspondyly, Joint stiffness, Abnormal rib morphology |
ORPHA:2588 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Long thorax, Horizontal ribs, Short ribs, Short neck, Wide anterior fontanel, Later... |
OMIM:617925 |
| Digeorge Syndrome |
|
Umbilical hernia, Intervertebral disk degeneration, Pilonidal sinus, Patellar dislocation, Scoliosis |
OMIM:188400 |
| Gracile Bone Dysplasia |
|
Thin ribs, Decreased skull ossification |
OMIM:602361 |
| Monosomy 9P |
|
Limitation of joint mobility, Abnormality of the vertebral column, Short neck, Abnormal rib morph... |
ORPHA:261112 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Broad ribs, Genu valgum, Limited elbow extension, Hyperlordosis, Hip dislocation |
OMIM:301066 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Unicoronal synostosis, Bell-shaped thorax, Encephalocele, Horizontal ribs, Short ri... |
OMIM:616300 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Broad ribs, Sclerosis of skull base, Hypoplasia of first ribs, M... |
OMIM:269150 |
| Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Humeroradial synostosis, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar ve... |
ORPHA:3404 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad ribs, Delayed tarsal ossification, Flat acetabular roof, D... |
OMIM:600002 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad ribs, Sclerosis of skull base, Increased intervertebral space |
OMIM:619727 |
| Restrictive Dermopathy |
|
Thin ribs, Osteopenia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Small placent... |
ORPHA:1662 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Hip dislocation, Patellar dislocation, Umbilical hernia, Osteomalacia, Joint stiff... |
ORPHA:534 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Early ossification of capital femoral epiphyses, Horizontal rib... |
OMIM:208500 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Popliteal pterygium, Delayed skeletal maturation, Patellar hypoplasia,... |
OMIM:609945 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Umbilical hernia, Spinal canal steno... |
ORPHA:217085 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Umbilical hernia, Broad ribs, Sclerosis of skull base, Abnormal tho... |
ORPHA:798 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Hip dislocation, Abnormal form of the vertebral bodies, Congenital diaphragmatic h... |
ORPHA:818 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Umbilical hernia, Spinal canal steno... |
ORPHA:217093 |
| Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Elbow dislocation, Delayed skeletal maturation, Camptodactyly of finger, Patel... |
ORPHA:2554 |
| Charge Syndrome |
|
Optic atrophy, Umbilical hernia, Abnormal cranial nerve morphology, Facial palsy, Hemivertebrae, ... |
ORPHA:138 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Optic nerve compression, Osteopetrosis, Hydrocephalus, Abnormal rib morphology, Cra... |
ORPHA:667 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Encephalocele, Death in infancy, Vertebral segmentation defec... |
ORPHA:2052 |
| Cranioectodermal Dysplasia 2 |
|
Narrow chest, Horizontal ribs, Short ribs, Joint hypermobility, Short neck, Metopic synostosis, P... |
OMIM:613610 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Horizontal ribs, Aplasia of the epiglottis, Short clavicles, Short ribs |
OMIM:617088 |
| Hereditary Acrokeratotic Poikiloderma |
|
Joint hypermobility, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:2907 |
| Fryns Syndrome |
|
Thin ribs, Joint contracture of the hand, Thoracic hypoplasia, Broad ribs, Short neck, Camptodactyly |
OMIM:229850 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Osteo |
