| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... |
OMIM:182940 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... |
OMIM:609813 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
| Odontoid Hypoplasia |
|
Dystopic os odontoideum, Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial i... |
OMIM:613628 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Short mi... |
ORPHA:1436 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis |
OMIM:108450 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... |
OMIM:309620 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Back pain |
OMIM:608220 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
| Sprengel Deformity |
|
Spina bifida occulta, Hemivertebrae, Cervical segmentation defect, Scoliosis |
OMIM:184400 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... |
ORPHA:66637 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Pectus excavatum, Short neck, Ab... |
ORPHA:2522 |
| Thanatophoric Dysplasia, Type Ii |
|
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Neonatal death, Sma... |
OMIM:187601 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Metatropic Dysplasia |
|
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... |
OMIM:156530 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Rib fusion, Sprengel anomaly, Hemivertebrae |
OMIM:173800 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Short ribs, Coarse metaphyseal trabecularization, Lumbar platyspo... |
OMIM:618961 |
| Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Short thumb, Spina bifida occulta at S1, Abnormal vertebral morphology |
OMIM:102510 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Elbow dislocation, Short neck, Limb u... |
ORPHA:1803 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Death in infancy, Vertebral segmentation defect |
OMIM:618845 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Genu varum, Genu valgum, Flexion contracture, Back pain, Short ribs, Delayed vertebral ossificati... |
OMIM:613330 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth, Micromelia, Narrow chest |
OMIM:600972 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Achondrogenesis Type 2 |
|
Unossified sacrum, Abnormal bone ossification, Short ribs, Delayed vertebral ossification, Absent... |
ORPHA:93296 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... |
ORPHA:3268 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... |
OMIM:187760 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Kyphosis, Micrognathia, Camptodactyly, Short neck, Neonatal dea... |
OMIM:618393 |
| Axial Spondylometaphyseal Dysplasia |
|
Flared, irregular rib ends, Upper limb undergrowth, Thoracic hypoplasia, Short femoral neck, Shor... |
ORPHA:168549 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta, Scoliosis, Abnormal vertebral morphology |
ORPHA:64754 |
| Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Anterior rib cupping, Thoracic hypoplasia, Short ribs, Nar... |
OMIM:269250 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... |
OMIM:613686 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Death in infancy, Lateral clavicle hook, Acetabular spurs, Narrow ch... |
OMIM:617405 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Scoliosis, Short ribs |
OMIM:618155 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Abnormality of the vertebral column, Myelopathy |
OMIM:602475 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
| Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
| Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... |
ORPHA:63259 |
| Kniest Dysplasia |
|
Short neck, Abnormal cartilage collagen, Delayed patellar ossification, Enlarged joints, Delayed ... |
ORPHA:485 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Short neck, Cer... |
OMIM:616549 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Bell-shaped thorax, Vertebral hypoplasia, Short femoral neck, Short ribs, Lumbar hype... |
OMIM:602557 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Short 1st metacarpal, E... |
OMIM:135100 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Micr... |
ORPHA:64755 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Short proximal phalanx of finger, Pectus excavatum, Short femur, Ovoid vertebral bod... |
OMIM:607778 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Severe platyspondyly, Rhizomelia, Short ribs, Decreased cranial base ossific... |
OMIM:151210 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Micrognathia, Cupped ribs, Platyspondyly |
OMIM:614524 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Accelerated skelet... |
OMIM:215045 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... |
OMIM:609223 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata... |
ORPHA:2779 |
| Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Short palm |
OMIM:101805 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Scoliosis |
ORPHA:530983 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Elbow dislocation, Short femur, Short ne... |
OMIM:108720 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Brachyolmia, Maroteaux Type |
|
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Joint swelling, Fla... |
OMIM:612852 |
| Three M Syndrome 1 |
|
Hyperlordosis, Joint dislocation, Increased vertebral height, Short 5th finger, Short thorax, Sho... |
OMIM:273750 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Vertebral segmentation defect, Micrognathia, Radioulnar synostos... |
ORPHA:1988 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Wi... |
OMIM:113000 |
| Hypophosphatasia, Infantile |
|
Vertebral clefting, Increased susceptibility to fractures, Short ribs, Death in infancy, Short lo... |
OMIM:241500 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Accelerated skele... |
ORPHA:1354 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Hypoplasia of ... |
OMIM:200600 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
| Isotretinoin Syndrome |
|
Spina bifida occulta, Micrognathia, Sacral dimple |
ORPHA:2305 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Short 5th metacarpal, Short distal phalanx of the thumb, Short 3rd metacarpal, Short d... |
ORPHA:370010 |
| Fibrochondrogenesis 1 |
|
Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal suture, Short palm, Thin cl... |
OMIM:228520 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Short distal phalanx of finger, Proximal/middle symphalangism of 5th fi... |
OMIM:184460 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... |
ORPHA:1145 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... |
ORPHA:2311 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short femoral neck, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Ovo... |
OMIM:184255 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... |
OMIM:271520 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Microretrognathia, Barrel-shap... |
OMIM:200610 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Micrognathia, Hip dislocation, Fibula... |
ORPHA:3320 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Micrognathia |
ORPHA:1514 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Dislocated radial ... |
OMIM:305620 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short metacarpal, Short thumb, Limitation of joint mobility, Enlarged interphalangeal joints, Int... |
OMIM:151200 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Wide anterior fontanel, Mesomelic/rhizomelic limb shortening, Short ribs, A... |
ORPHA:2347 |
| Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Wide-cupped costochondral junctions, Short... |
OMIM:187600 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... |
OMIM:604864 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... |
OMIM:271530 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
| Dysosteosclerosis |
|
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... |
OMIM:224300 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... |
OMIM:178110 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Micrognathia, Hip dislocat... |
OMIM:618000 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... |
ORPHA:2635 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
| Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Increased bone mineral density, Synostosis of carpal bones, Limitati... |
ORPHA:90650 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Bell-shaped thorax, Severe platyspondyly, Short ribs, Short neck, Delayed skeletal maturation, Dy... |
OMIM:613320 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Rhizomelia, Short ribs, Short ne... |
ORPHA:1842 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Short ribs, Narrow chest, Hy... |
ORPHA:2021 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... |
ORPHA:313892 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... |
ORPHA:163665 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Tetraphocomelia... |
OMIM:215140 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly, Micromelia, Short palm |
ORPHA:168555 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
| Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Limb undergrowth, Rhizomelia, Scoliosis |
ORPHA:177 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Genu varum, Genu valgum, Back pain, Knee pain, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93311 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Spina bifida occulta, Short clavicles, Hypoplastic scapulae, Lumbar hyperlordosis |
OMIM:169550 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Vertebral segmentation defect, Narrow chest, Hemivertebrae |
OMIM:617661 |
| Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... |
ORPHA:2332 |
| Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... |
OMIM:259440 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth |
OMIM:257350 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thoracic hypoplasia, Short ribs, Micrognathia, Vertebral wedging, Missing ribs, Micromelia, Decre... |
OMIM:617866 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... |
OMIM:619227 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... |
OMIM:601344 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
| Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Scoliosis, Platyspondyly |
ORPHA:3180 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu varum, Genu valgum, Delayed skeletal maturation, Platyspondyly |
OMIM:608361 |
| Achondroplasia |
|
Genu varum, Spinal stenosis with reduced interpedicular distance, Generalized joint laxity, Sever... |
OMIM:100800 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... |
ORPHA:1836 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Joint ... |
OMIM:616583 |
| Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic acetabulae, Short 1st metacarpal, Short ribs, Short lower... |
OMIM:620076 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:1570 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... |
ORPHA:1394 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Short ribs, Micrognathia, Anisospondyly, Pterygium, Limitation of joint mobi... |
ORPHA:1865 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Short metacarpal, Short palm, Sy... |
ORPHA:93351 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Small hand, Micrognathia, Spina bifida occulta, Short neck, Scoliosis, Abno... |
ORPHA:1787 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... |
ORPHA:2759 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Distal shortening of limbs, Decreased skull ossification, Hypoplasi... |
OMIM:300863 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Abnormal epiphysis morphology, Anal atresia, Lower limb undergrowth |
ORPHA:2310 |
| Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... |
OMIM:252600 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Micrognathia... |
ORPHA:1724 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short femoral neck, Fused cervical vertebrae, Flat acetabular roof, Short clavicles, Wormian bones |
OMIM:617159 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... |
OMIM:617796 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Abnormal pelvis bone ossifica... |
ORPHA:1426 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Osteoporotic tarsals, Enlargement of the costochondral junction, Flat acetabular roof, Ovoid vert... |
OMIM:609052 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu varum, Genu valgum, Short foot, Short ribs, Irregular chondrocostal junctions, Joint laxity,... |
OMIM:250420 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused cervical vertebrae, Short nec... |
OMIM:609053 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Short ribs, Vert... |
OMIM:109400 |
| Blomstrand Lethal Chondrodysplasia |
|
Short thorax, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Broad clavicles, Incre... |
ORPHA:50945 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... |
OMIM:184100 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Accelerated skeletal maturation, Sco... |
OMIM:617190 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Vertebral wedging, Flat acetabular roof, Platy... |
OMIM:617719 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Squared-off platyspondy... |
OMIM:271630 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Short finger, Spinal cord compression, Kyphoscoliosis, Hypoplastic cervical ve... |
OMIM:222600 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
| Braddock Syndrome |
|
Micrognathia, Missing ribs, Pectus excavatum, Short neck, Scoliosis, Hemivertebrae |
ORPHA:52047 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Short foot, Rhizomelia, Small hand, Vertebral segmentation defect, Micrognathia, Camptodactyly, B... |
OMIM:611209 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Delayed skeletal maturation, Irregular acetabul... |
OMIM:617974 |
| Gorlin Syndrome |
|
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
| Atelosteogenesis Type Ii |
|
Thoracic hypoplasia, Micrognathia, Elbow flexion contracture, Camptodactyly, Elbow dislocation, S... |
ORPHA:56304 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short neck, Kyphosis |
ORPHA:2983 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Short foot, Small hand, Pectus excava... |
ORPHA:915 |
| White Forelock With Malformations |
|
Spina bifida occulta |
ORPHA:2475 |
| Anus, Imperforate |
|
Anal atresia, Ectopic anus |
OMIM:301800 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, Micrognathia, C... |
OMIM:224400 |
| Dysspondyloenchondromatosis |
|
Genu valgum, Joint dislocation, Generalized joint laxity, Vertebral segmentation defect, Anisospo... |
ORPHA:85198 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Scleroti... |
OMIM:601376 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Upper limb undergrowt... |
OMIM:271650 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Disl... |
ORPHA:1826 |
| Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Osteochondritis dissecans, Micrognathia, Camptodactyly, Elbow dislocation, A... |
OMIM:224690 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis |
OMIM:616602 |
| Schneckenbecken Dysplasia |
|
Short ribs, Narrow chest, Accelerated skeletal maturation, Hypoplastic vertebral bodies, Short ne... |
ORPHA:3144 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Poorly ossified ve... |
ORPHA:3003 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Bell-shaped thorax, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomel... |
ORPHA:2839 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Kyphosis, Hyperextensibility ... |
OMIM:313420 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Hip osteoarthritis, Abnormality of the wrist, Limitation of joint mobility, ... |
ORPHA:2619 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... |
OMIM:607143 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Fountain Syndrome |
|
Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis, Short distal phalanx of finger, Abnormal... |
ORPHA:3219 |
| Poland Syndrome |
|
Abnormal sternum morphology, Aplasia/Hypoplasia of the thumb, Pectus carinatum, Small hand, Kypho... |
ORPHA:2911 |
| Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Short distal phalanx of finger, Semilobar holoprosencephaly, Hypoplastic vertebral bodies |
OMIM:601370 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta |
ORPHA:230839 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... |
ORPHA:1488 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Patellar dislocation, Short femoral neck, Multiple joint dislocati... |
OMIM:618395 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Abnormal sternum morphology, Multiple pterygia, Vertebral segmentation d... |
ORPHA:2990 |
| Coxopodopatellar Syndrome |
|
Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Abnormal pelvic ... |
ORPHA:1509 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence, Neonatal death |
OMIM:619751 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Short thorax, Osteoarthritis, Platyspondyly |
ORPHA:93283 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Thoracic hypoplasia, Progressive calcification of costochondral cartilage, Micro... |
OMIM:271665 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Kyphosis, Micrognathia, Spina bifida occulta, Scoliosis |
OMIM:618291 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, L... |
ORPHA:1486 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Irregular acetabular roof, Limited elbow extension, Beaking of vertebral ... |
ORPHA:750 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Widening of cervical spinal canal, Neonatal death, Arth... |
OMIM:253310 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral morphology, Synostos... |
ORPHA:337 |
| Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Kyphosis, Short ribs, Coronal craniosy... |
OMIM:603116 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Unossified sacrum, Bell-shaped thorax, Thoracic... |
OMIM:608022 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Short ribs, Micrognathia, Hip dislocation, Micromelia |
OMIM:241800 |
| Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Recurrent fractures, Hyperextensibility of the finger joints, Anterio... |
OMIM:610967 |
| Prieto Syndrome |
|
11 pairs of ribs, Osteoporosis, Patellar dislocation, Patellar subluxation |
OMIM:309610 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Camptodactyly, Polyarticular arthropathy, Generalized osteoporosis, Irregular ace... |
ORPHA:1159 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Myelomeningocele, Spina bifida, Micrognathia, Hydrocephalus, Spina bifid... |
ORPHA:2437 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Short ribs, Micrognathia, Aplasia of the distal phalan... |
OMIM:308050 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... |
OMIM:206900 |
| Caudal Regression Syndrome |
|
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short ribs, Thoracic dysplasia, Lateral cla... |
OMIM:615630 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Micrognathia, Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis |
ORPHA:261197 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Disproportionate sho... |
ORPHA:1505 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Short nec... |
OMIM:268310 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Phalangeal dislocation, Scoliosis, Platyspondyly |
ORPHA:85174 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Rhizomelia, Anterior rib cupping, Short femoral neck, Scoliosis, Platyspondy... |
OMIM:602271 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip subluxatio... |
ORPHA:99642 |
| Pyle Disease |
|
Genu valgum, Abnormal thorax morphology, Platyspondyly, Scoliosis, Limited elbow extension, Cubit... |
OMIM:265900 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Split Cord Malformation Type I |
|
Scoliosis, Diastomatomyelia |
ORPHA:1671 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Hypoplasia of the radius, Fused ... |
OMIM:607323 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed s... |
OMIM:148050 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Narrow chest, Micrognathia, Short neck, Abnormal clavicle morphology, Decreased skull... |
ORPHA:93267 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Neonatal death, Short neck, Lumbar hemivertebrae |
OMIM:619859 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, Spina bifida occulta, Spondylolisthesis |
OMIM:617877 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Shor... |
OMIM:272460 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Sc... |
OMIM:619122 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Spinal canal stenosis, Pectus excavatum |
OMIM:618624 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Micrognathia, Short third metatarsal, Missing ribs, Short fifth ... |
OMIM:134780 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Sh... |
OMIM:251230 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Larsen Syndrome |
|
Short metatarsal, Vertebral fusion, Accessory carpal bones, Spondylolysis, Short metacarpal, Cerv... |
OMIM:150250 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Micrognathi... |
ORPHA:628 |
| Sillence Syndrome |
|
Back pain, Flat acetabular roof, Camptodactyly, Abnormal vertebral morphology, Aplasia of the mid... |
ORPHA:3168 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... |
OMIM:609616 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... |
OMIM:213980 |
| Aicardi Syndrome |
|
Bifid ribs, Small hand, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, R... |
ORPHA:50 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Radioulnar dislocation, Abnormality of the elbow, Elbow fl... |
ORPHA:93359 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Spinal... |
ORPHA:1756 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Short 5th finger, Generalized joint laxity, Thoracic hemivertebrae, Fused... |
ORPHA:508498 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Scoliosis, Platyspondyly |
OMIM:618728 |
| Thakker-Donnai Syndrome |
|
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Prominent sternum,... |
OMIM:253000 |
| Cog1-Cdg |
|
Rhizomelia, Vertebral segmentation defect, Micrognathia, Flat acetabular roof, Butterfly vertebra... |
ORPHA:263508 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Genu valgum, Irregularity of vertebral bodies, Platyspondyly |
OMIM:609324 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Micrognathia, Joint hypermobility, Pectus... |
OMIM:130720 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Vertebral segmentation defect, Micrognathia, Missing ribs, Short neck, S... |
ORPHA:1834 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta |
ORPHA:1185 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplasia of the odontoid proc... |
OMIM:183900 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Cervical cor... |
ORPHA:79345 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta |
OMIM:268850 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Lat... |
OMIM:274000 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Increased bone mineral density, Stiff knee, Limb pain, Premature osteoarthrit... |
ORPHA:93284 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
| Nail-Patella Syndrome |
|
Back pain, Patellar hypoplasia, Patellar dislocation, Patellar aplasia, Pectus excavatum, Antecub... |
OMIM:161200 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic arm shortening, Bell-shaped thorax, Rhizomelic leg shortening, Thoracic hypoplasia, Sm... |
ORPHA:397715 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short toe, Horizontal inferior border of scapula, Rhizomelia, Short metacarpal,... |
OMIM:250220 |
| Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Knee flexion contracture, Joint contracture of the hand, Short ribs, Micrognathia,... |
OMIM:600920 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... |
OMIM:259420 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Rhizomelia, Narrow chest, Multiple rib fractures, Microretrognathia, Joint h... |
OMIM:616229 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia |
OMIM:617244 |
| Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hemivertebrae, Missing ribs |
OMIM:220210 |
| Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Rhizomelic arm shortening, Pectus cari... |
OMIM:101200 |
| Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Micrognathia, Hypoplasia of the ulna, Sp... |
ORPHA:52 |
| Acrocraniofacial Dysostosis |
|
Short 1st metacarpal, Micrognathia, Spina bifida occulta, Short distal phalanx of finger, Abnorma... |
ORPHA:949 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral ... |
ORPHA:2319 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Wide anterior fontanel, Short ribs, Micrognathia, Long thorax, Shor... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Short ribs, Hypoplasia of the radius, Lateral clavicle hook... |
OMIM:617895 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
OMIM:304050 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Irregular vertebral endplates, Lumbar scoliosis, Platyspondyly |
OMIM:612847 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Short ribs, Absent tibia, Hypoplasia of the ulna, Lateral c... |
OMIM:613091 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Jo... |
OMIM:617952 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Short thumb, Increased bone mineral density... |
ORPHA:90652 |
| Smith-Mccort Dysplasia 1 |
|
Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head ossification, Prominent ste... |
OMIM:607326 |
| Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies |
OMIM:601187 |
| Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology |
ORPHA:217266 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Hypoplasia of the odontoid process, Platyspondyly, Short palm, Irregularity of verteb... |
ORPHA:85172 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... |
ORPHA:1802 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... |
ORPHA:96169 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Elbow flexion contracture, Flat acetabular roof, Delayed ossi... |
OMIM:184252 |
| Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, ... |
ORPHA:87 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Knee flexion contracture, Hip contracture, Micrognathia, Elbow flexion contract... |
OMIM:616266 |
| Grant Syndrome |
|
Joint dislocation, Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of ... |
ORPHA:2097 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pe... |
OMIM:617137 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Short toe, Short thorax, Neonatal death, Short foot, Short ribs, Thoracic dyspla... |
OMIM:269860 |
| Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Short palm, Small hand, Microretrognathia |
ORPHA:1786 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Short neck, Micromeli... |
ORPHA:93298 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Disproportionate shortening of the tibia, Short ribs, Thoracic dysplasia, Latera... |
OMIM:263520 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... |
ORPHA:2484 |
| Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Scoliosis |
OMIM:617466 |
| Atelosteogenesis, Type Ii |
|
Increased intervertebral space, Thoracic hypoplasia, Horizontal sacrum, Cervical kyphosis, Flat a... |
OMIM:256050 |
| Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short ribs, Short femur, Wide cranial sutures, Fractured rib, Osteopenia, Su... |
OMIM:618188 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Kyphosis, Platyspondyly |
ORPHA:2786 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Joint contracture of the hand, Arthropathy, Enlarged interph... |
OMIM:208230 |
| Thanatophoric Dysplasia Type 2 |
|
Short thorax, Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Holoprosencep... |
ORPHA:93274 |
| Osteogenesis Imperfecta, Type Xxi |
|
Bell-shaped thorax, Recurrent fractures, Barrel-shaped chest, Pectus excavatum, Joint hypermobili... |
OMIM:619131 |
| Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Limb u... |
OMIM:166210 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Intervertebral space narrowing, Genu valgum, Knee pain, Double-layere... |
ORPHA:166011 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Avascular necrosis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness, Oste... |
ORPHA:1345 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short ribs, Thoracic dysplasia, Flat acetabular roof, Mesomelia, Micromelia, Narrow chest, Short ... |
OMIM:614091 |
| 3Mc Syndrome |
|
Hyperlordosis, Caudal appendage, Spina bifida occulta, Scoliosis, Prominent coccyx, Umbilical hernia |
ORPHA:293843 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Narrow chest, Abnormal rib morphology |
ORPHA:1703 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Rhizomelia, Short metacarpal, Short finger, Cupped ribs, Ovoid vertebral bo... |
OMIM:608940 |
| Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Sacral dimple, Kyphosis, Death in infancy, Vertebral segmentation defect... |
ORPHA:1507 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Short ribs, Micrognathia, Osteopenia, Pathologic fracture |
OMIM:156400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2180 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Hyperlordosis, Micrognathia, Scoliosis |
ORPHA:2780 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Joint dislocation, Short thorax, Kyphosis, Spinal canal stenosis, Sho... |
ORPHA:582 |
| Achondrogenesis Type 1A |
|
Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short foot, Multiple rib fra... |
ORPHA:93299 |
| Carpenter Syndrome 1 |
|
Sacral dimple, Aplasia/Hypoplasia of the middle phalanges of the toes, Micrognathia, Spina bifida... |
OMIM:201000 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short ribs, Acetabular spurs, Narrow chest,... |
OMIM:225500 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Thoracic hypoplasia, Micrognathia, Epiphyseal stippling, Campto... |
ORPHA:96334 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly |
OMIM:230650 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Holt-Oram Syndrome |
|
Absent thumb, Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Phocomel... |
ORPHA:392 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Hip dislocation, Distal shortening of limbs, Rib fusion, Mesomelia, Hemiver... |
OMIM:146510 |
| Sacral Defect With Anterior Meningocele |
|
Meningocele, Back pain, Myelomeningocele, Hemisacrum, Hydromyelia, Absence of the sacrum, Anterio... |
OMIM:600145 |
| Pseudodiastrophic Dysplasia |
|
Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, Short neck, Scoliosis, Phal... |
OMIM:264180 |
| Weaver Syndrome |
|
Kyphosis, Short ribs, Joint contracture of the hand, Accelerated skeletal maturation, Camptodacty... |
OMIM:277590 |
| Arthrogryposis, Distal, Type 2A |
|
Spina bifida occulta, Kyphoscoliosis, Short neck, Scoliosis |
OMIM:193700 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Short foot, Micrognathia, Narrow vertebral interpedicular distance, Short dista... |
OMIM:620073 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, C1-C2 sublu... |
OMIM:184250 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Bell-shaped thorax, Rhizomelia, Short ribs, Flat acetabular roof, M... |
OMIM:616300 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Osteoporosis of vertebrae, Multiple small vertebral fractures, Platyspondyly |
OMIM:156510 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Squared-off platyspondyly, Narrow vertebral interpedicular distance, Central verte... |
ORPHA:93352 |
| Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
| Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Narrow vertebral interpedicular distance, Herniation of intervert... |
OMIM:601216 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Flat acetabular roof, Micromelia, Pectus excavatum, Posterior rib cupping, O... |
OMIM:608728 |
| Robinow Syndrome |
|
Radioulnar dislocation, Micrognathia, Missing ribs, Kyphoscoliosis, Rib fusion, Scoliosis, Mesome... |
ORPHA:97360 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Micrognathia, Hip disloca... |
ORPHA:140 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Scoliosis, Short middle phalanx of f... |
OMIM:613823 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Premature osteoarthritis, Delayed epiphyseal ossification, Lumbar hyperlordosis, Carpal bone hypo... |
ORPHA:93314 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Missing ribs, Tetraamelia, Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:3301 |
| Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Rhizomelia, Narrow ... |
OMIM:613848 |
| Sirenomelia |
|
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum |
ORPHA:3169 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Abnormal thorax morphology, Micrognathia, Abnormal vertebral morphology,... |
ORPHA:280 |
| Pseudoachondroplasia |
|
Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extension, Beaking of vertebral b... |
OMIM:177170 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial... |
OMIM:245600 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Genu valgum, Micrognathia, Missing ribs, Elbow dislocation, Pectus excav... |
ORPHA:2462 |
| Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... |
ORPHA:2771 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Abnormal rib cage morp... |
OMIM:227330 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Hypoplasia of the radius, Micrognathia, Elbow flexion contracture, ... |
OMIM:200980 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Cleidocranial Dysplasia |
|
Micrognathia, Abnormal sacrum morphology, Spina bifida occulta, Scoliosis, Short clavicles, Hypop... |
ORPHA:1452 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Abnormal vertebral morph... |
OMIM:184705 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Spina bifida occulta, Scoliosis |
OMIM:617360 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Short neck, Micromelia, Narrow chest |
OMIM:616546 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Micrognathia, Wormian bones, Scoliosis, Joint hyperflexibility, Ab... |
ORPHA:2050 |
| Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Micrognathia, Elbow contracture, Pectus excavatum, Sh... |
OMIM:304120 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| 3C Syndrome |
|
Kyphosis, Death in infancy, Micrognathia, Missing ribs, Short neck, Scoliosis, Hemivertebrae |
ORPHA:7 |
| Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hip dislocation, Sco... |
ORPHA:2078 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Vertebral arch anomaly, Wide anterior fontanel, Increased bone mineral density,... |
ORPHA:85184 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis, Platyspondyly |
OMIM:184840 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Osteogenesis Imperfecta, Type Xiii |
|
Enlarged thorax, Recurrent fractures, Increased bone mineral density, Joint hypermobility, Disloc... |
OMIM:614856 |
| Brachyolmia Type 3 |
|
Kyphosis, Barrel-shaped chest, Short neck, Scoliosis, Platyspondyly |
OMIM:113500 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Fused cervical vertebrae, Micrognathia, Contracture of the distal inter... |
ORPHA:83617 |
| Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Genu valgum, Prominent sternum, Kyphosis, Ulnar deviation of the wrist, Hypoplasia... |
OMIM:253010 |
| Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Microretrognathia, Pectus excavatum, Wid... |
OMIM:616294 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Wide anterior fontanel, Short metacarpal, Joint laxity, Barrel-sha... |
OMIM:610915 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Pear-shaped vertebrae, Rhi... |
OMIM:602111 |
| Phaver Syndrome |
|
Camptodactyly of finger, Short thumb, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abno... |
ORPHA:2876 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary vertebrae, Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Pectus ex... |
OMIM:263750 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short toe, Tracheobronchomalacia, Short thumb, Micrognathia, Camptodactyly, Hip di... |
OMIM:613458 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Pectus excavatum... |
OMIM:610443 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Delayed skeletal maturation, Scoliosis, Platyspondyly, O... |
OMIM:234250 |
| Meier-Gorlin Syndrome 3 |
|
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Short ribs, Micrognathia, Micror... |
OMIM:613803 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... |
OMIM:617604 |
| Distal Monosomy 10Q |
|
Spina bifida occulta, Short metatarsal, Micrognathia, Lumbar hyperlordosis |
ORPHA:96148 |
| Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Short humerus, Spina bifida occulta, Lam... |
OMIM:218600 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short ribs, Thoracic dysplasia, Lateral clavicle hook, Acetabular spurs, Narrow chest |
OMIM:615503 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal |
OMIM:618724 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Hypoplasia of the radius, Synostosis of carpal bones, Hip dislocation, Radioul... |
ORPHA:3258 |
| Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Neural tube defect |
OMIM:600776 |
| Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Short sternum, Humeroradial synostosis, Short ribs, Short metacarp... |
ORPHA:3404 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Lymphangiectasia, Intestinal |
|
Pedal edema, Edema, Stillbirth |
OMIM:152800 |
| Seckel Syndrome 8 |
|
Spinal cord compression, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Micrognathia, Hip di... |
OMIM:271640 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Joint hypermobility, Abn... |
OMIM:602196 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Beaking of vertebral bodies, Flat glenoid fossa, Lumbar hyperlordosis,... |
OMIM:223800 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness |
OMIM:252900 |
| Thanatophoric Dysplasia |
|
Short thorax, Kyphosis, Hydrocephalus, Abnormal sacroiliac joint morphology, Joint hyperflexibili... |
ORPHA:2655 |
| 3M Syndrome |
|
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... |
ORPHA:2616 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Metopic suture patent to nasal root, Broad ribs, Short 1st metacarpal, Increased d... |
OMIM:269150 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Flexion contracture of... |
OMIM:255800 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... |
ORPHA:2725 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short foot, Rhizomelia, Death in infancy, Micrognathia, Platyspondyly, Short palm, Thin ribs |
ORPHA:163966 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short metatarsal, Short toe, Short thorax, Thoracic hypoplasia, Wide anterior fontanel, Rhizomeli... |
OMIM:266920 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... |
OMIM:619698 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Anal atresia |
ORPHA:195 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Small hand, Spina bifida occulta, Scoliosis, Short palm, Short foot, Umbilical hernia |
OMIM:235510 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Aplasia/Hypoplasia of the distal phalanges of the hand, Ectopic anus, Aplasia/Hypop... |
ORPHA:94066 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Micrognathia, Spina bifida occulta, Ab... |
ORPHA:233 |
| Zttk Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Cervical ribs, Joint hypermobility, Rib fusion, Scolio... |
OMIM:617140 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
| Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Hypoplastic acetabulae, Short thorax, Rhizomelia, Pectus carinatum, Broad carpal bon... |
ORPHA:239 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Micrognathia, Hip dislocation, Radioulnar synostosis, ... |
OMIM:194190 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Death in infancy, Thoracic dysplasia, Early ossification of capital ... |
OMIM:208500 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Genu varum, Flat acetabular roof, Delayed ossification of carpal bones... |
OMIM:184260 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Tracheobronchomalacia, Joint hypermobility, Scoliosis, Bicoronal synostosis, Jo... |
OMIM:619184 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Micrognathia, Abnormally ossified vertebrae, Lower limb undergrowth |
ORPHA:3035 |
| Cantu Syndrome |
|
Cuboid-shaped vertebral bodies, Short neck, Ovoid vertebral bodies, Delayed skeletal maturation, ... |
OMIM:239850 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Irregular vertebral endplates, Joint hyperflexibility, Platyspondyly |
ORPHA:250984 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Distal shortening of limbs, Spina bifida occulta, Short neck, Short foot |
ORPHA:488434 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Abnormality of the elbow, Abnormality of cranial sutures, Thoracic ky... |
ORPHA:163649 |
| Kniest Dysplasia |
|
Genu varum, Hip contracture, Hip dislocation, Tracheomalacia, Limitation of joint mobility, Pectu... |
OMIM:156550 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Genu varum, Genu valgum, Radial head subluxation, Generalized joint laxity, Kyph... |
ORPHA:93360 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Short ribs, Coarse metaphyseal trabecularization, Scoliosis, Short clavi... |
ORPHA:2092 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Vertebral segmentation defect, Abnormal rib morphology, Short distal phalanx of... |
ORPHA:1120 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Delayed ossification of carpal bones, Abnormal vertebral morphol... |
ORPHA:93346 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Wide anterior fontanel,... |
OMIM:610682 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Abnormality of the knee, Abnormal patella morphology, Delayed skeletal maturation, Osteopenia, Pl... |
ORPHA:319195 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Radial club hand, Vertebral segmentation defect, Hypoplasia of the ulna, Short ... |
ORPHA:959 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial hea... |
OMIM:210600 |
| Cat-Eye Syndrome (Type I) |
|
Anal atresia |
DECIPHER:42 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Anal atresia |
ORPHA:3469 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Abnormality of the vertebral endplates, Platyspondyly, Ovoid verte... |
ORPHA:1856 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... |
OMIM:252930 |
| Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Kyphosis, Hypoplasia of the radius, Micrognathia, Hip dislocation, Butterfly ve... |
ORPHA:958 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Irregular vertebral endplates, Joint contracture of the 5th finger, Platyspondyly |
OMIM:601668 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Anal atresia |
OMIM:274265 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Micrognathia, Aplasia/Hypoplasia of toe, Aplasia/Hypoplasia of fingers, Short neck, Abn... |
ORPHA:3082 |
| Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis, Platyspondyly |
ORPHA:90653 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectovaginal fistula, Anal atresia, Oligodactyly, Ectrodactyly, Perinea... |
ORPHA:3016 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Micrognathia, Ab... |
ORPHA:73230 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Hypoplasia of t... |
OMIM:253220 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Delayed skeletal maturation, Wormian bones, Platyspondyly |
OMIM:619638 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Abnormality of the vertebral column, Micrognathia, Sprengel anomaly |
OMIM:601076 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Absent radius |
OMIM:312190 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... |
ORPHA:174 |
| Acrofacial Dysostosis 1, Nager Type |
|
Short toe, Absent thumb, Aplasia/Hypoplasia of the thumb, Abnormality of the cervical spine, Foot... |
OMIM:154400 |
| Dubowitz Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the thumb, Wide anterior fontanel, Small hand, Micrognathia,... |
ORPHA:235 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Limitation of joint mobility, Platyspondyly |
OMIM:619598 |
| Basilar Impression, Primary |
|
Kyphoscoliosis, Abnormal cervical myelogram, Short neck, Syringomyelia |
OMIM:109500 |
| Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abno... |
OMIM:216100 |
| 3Mc Syndrome 1 |
|
Sacral dimple, Short 5th finger, Wide anterior fontanel, Caudal appendage, Spina bifida occulta, ... |
OMIM:257920 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Anterior rib cupping, Short femoral neck, Prominent sternum, Thoracic kyphos... |
OMIM:300232 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Hyperostosis, ... |
OMIM:604922 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal maturati... |
ORPHA:3068 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Arachnodactyly, Sh... |
ORPHA:2994 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Genu valgum, Knee pain, Limited elbow movement, Kyphosis, Spinal rigidity, Flat acetab... |
ORPHA:94068 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Platyspondyly |
ORPHA:71267 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints |
OMIM:618356 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Rhizomelia, Short ribs, Micrognathia, Joint laxity, Pectus excavatum, Short neck... |
OMIM:613610 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Spina bifida occulta, Short neck |
OMIM:611929 |
| Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, Intervertebral disc degeneration, Scoliosis, Hip osteoarthritis |
OMIM:619656 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
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