| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Back pain, Spinal cord compression |
OMIM:608220 |
| Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis |
OMIM:184400 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Lateral clavicle hook, Micrognat... |
ORPHA:1801 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Micrognathia... |
ORPHA:2522 |
| Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Poland Syndrome |
|
Unilateral oligodactyly, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly |
OMIM:173800 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Narrow chest, Short ribs, Death in childh... |
OMIM:618961 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Genu valgum, Bell-shaped thorax, Joint hyperflexibi... |
ORPHA:1803 |
| Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Short thumb, Abnormal vertebral morphology, Spina bifida occulta at S1 |
OMIM:102510 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, F... |
OMIM:613330 |
| Achondrogenesis, Type Ib |
|
Micromelia, Stillbirth, Narrow chest, Short ribs, Absent or minimally ossified vertebral bodies |
OMIM:600972 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Delayed proxima... |
ORPHA:93296 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187601 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis |
OMIM:618155 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Micrognathia, Kyphosis, Prenatal death, Camptodactyly, Neonatal dea... |
OMIM:618393 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... |
ORPHA:168549 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis, Spina bifida |
ORPHA:64754 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... |
OMIM:617405 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| 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, Myelopathy, Abnormality of the vertebral column |
OMIM:602475 |
| Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Hydroc... |
ORPHA:63259 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... |
ORPHA:485 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... |
OMIM:616549 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Bell... |
OMIM:602557 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scolios... |
ORPHA:64755 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia, Short neck, Flat acet... |
OMIM:151210 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Advanced o... |
OMIM:215045 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Pectus carinatum, Irregular vertebral... |
OMIM:609223 |
| Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Short palm |
OMIM:101805 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Micrognathia |
ORPHA:530983 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Knee dislocation, Narrow chest, Neonatal death, Verte... |
OMIM:108720 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Micromelia, Short neck, Delayed skeletal maturation, Delayed epiphyseal ossific... |
OMIM:613320 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Radio... |
ORPHA:1988 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... |
OMIM:113000 |
| Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Delay... |
OMIM:273750 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis... |
ORPHA:1354 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Micromelia, Vertebral clefting, Increased susceptibility to f... |
OMIM:241500 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short thumb, Short toe, Short distal phalanx of the thumb, Cervical C2/C3 vertebral fusion, Short... |
ORPHA:370010 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Short neck, Beaded rib... |
OMIM:200600 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
| Isotretinoin Syndrome |
|
Sacral dimple, Spina bifida occulta, Micrognathia |
ORPHA:2305 |
| Fibrochondrogenesis 1 |
|
Short neck, Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Rhizomelia... |
OMIM:228520 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... |
OMIM:184460 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates,... |
OMIM:184255 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangeal joint contrac... |
OMIM:151200 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Stillbirth, Short r... |
OMIM:200610 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Micrognathia |
ORPHA:1514 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... |
ORPHA:313892 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, A... |
ORPHA:2347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187600 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... |
OMIM:224300 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Short neck, Multiple prenatal ... |
OMIM:616897 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Limitation of joint... |
ORPHA:90650 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Rhizomelia, Micromelia, Short neck, Abnormality of the elbow, Bell-shaped thor... |
ORPHA:1842 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... |
ORPHA:2021 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic hemivertebrae |
ORPHA:1445 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest |
OMIM:617661 |
| Rhizomelic Chondrodysplasia Punctata |
|
Limb undergrowth, Spina bifida occulta, Rhizomelia, Scoliosis |
ORPHA:177 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Short clavicles, Spina bifida occulta |
OMIM:169550 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... |
OMIM:259440 |
| Nuchal Bleb, Familial |
|
Stillbirth, Hydrops fetalis |
OMIM:257350 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Fibrodysplasia Ossificans Progressiva |
|
Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tis... |
ORPHA:337 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Micromelia, Missing ribs, Micrognathia, Vertebral wedging, Decreased calvarial ossification, Plat... |
OMIM:617866 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ... |
OMIM:601344 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Lateral clavic... |
OMIM:171480 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Short tibia, Thin ribs, Coronal cleft vertebrae, Decreased calvarial ossi... |
OMIM:620076 |
| Achondroplasia |
|
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Short femur, Generaliz... |
OMIM:100800 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... |
OMIM:616583 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:1570 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... |
ORPHA:93315 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... |
ORPHA:1394 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Micromelia, Short neck, Micrognathia, Flexion contracture, Limitation of joint mobil... |
ORPHA:1865 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short neck, Micrognathia, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spina bif... |
ORPHA:1787 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Pectus carinatum, Narrow chest, Short palm, Short ti... |
OMIM:607778 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Thin ribs, Platyspondyly, Hypoplasia of the calcaneus, Decreased sk... |
OMIM:300863 |
| Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Sifrim-Hitz-Weiss Syndrome |
|
Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles, Wormian bones |
OMIM:617159 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Seckel Syndrome 4 |
|
Steep acetabular roof, 11 pairs of ribs |
OMIM:613676 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre... |
OMIM:109400 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Genu valgum, Irregular chond... |
OMIM:250420 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Aplastic clavicle, Accelerated skel... |
ORPHA:50945 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Rib fusion,... |
OMIM:611209 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression, Scoliosis, Shor... |
OMIM:222600 |
| Braddock Syndrome |
|
Missing ribs, Pectus excavatum, Short neck, Micrognathia, Hemivertebrae, Scoliosis |
ORPHA:52047 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... |
OMIM:617719 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... |
OMIM:615583 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Hypoplastic cervical verte... |
ORPHA:56304 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... |
OMIM:617974 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small hand, Short foot, J... |
ORPHA:915 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Short metatarsal, Spina bifida occulta, Wrist flexion contr... |
ORPHA:1826 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
| White Forelock With Malformations |
|
Spina bifida occulta |
ORPHA:2475 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micromelia, Short neck, Micrognathia, Limitation of joint mobility, Advanced ossification of carp... |
OMIM:224400 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthriti... |
OMIM:271650 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat gl... |
OMIM:224690 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis |
OMIM:616602 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short thorax, Poorl... |
ORPHA:3003 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... |
ORPHA:2619 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Micromelia, Accelerated skeletal maturation, Short neck, Lateral clavicle h... |
ORPHA:3144 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... |
ORPHA:2839 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, S... |
ORPHA:3219 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... |
ORPHA:1488 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyp... |
ORPHA:2911 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Limitation of joint m... |
ORPHA:2990 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta |
ORPHA:230839 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Multiple joint dislocation, Hip dislocation, Th... |
OMIM:618395 |
| Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
| Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thoracic hypoplasia |
OMIM:619751 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger |
OMIM:601370 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Short thorax, Platyspondyly, Osteoarthritis |
ORPHA:93283 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Micromelia, Micrognathia, Hip dislocation, Short ribs |
OMIM:241800 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Knee flexion contracture, Abnormal calcification of the car... |
OMIM:271665 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Micrognathia, Kyphosis, Scoliosis, Spina bifida occulta |
OMIM:618291 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... |
OMIM:608022 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Limitation of joint mobi... |
ORPHA:1486 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Neonatal death, Arthrogryposis multiplex congenita, Wid... |
OMIM:253310 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
| Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... |
ORPHA:3027 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Prieto Syndrome |
|
Patellar subluxation, 11 pairs of ribs, Osteoporosis, Patellar dislocation |
OMIM:309610 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Congenital hip dislocation, Hypoplastic scapulae... |
OMIM:308050 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Spina bifid... |
ORPHA:2437 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Thoracic dysplasia, Short ribs, Thoracic ... |
OMIM:615630 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
| Pyle Disease |
|
Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ... |
OMIM:265900 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... |
ORPHA:1159 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Dislocated radial he... |
OMIM:268310 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Short femoral neck, Tho... |
OMIM:602271 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Short thumb, Hypoplasia of th... |
OMIM:607323 |
| Split Cord Malformation Type I |
|
Diastomatomyelia, Scoliosis |
ORPHA:1671 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... |
OMIM:148050 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Short metacarpal, Block vertebrae, Tarsal synostosis, Hyperlo... |
OMIM:272460 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Short neck, Micrognathia, Abnormal rib morphology, Plat... |
ORPHA:93267 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Lumbar hemivertebrae, Missing ribs, Short neck |
OMIM:619859 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Spina bifida occulta, Short 5th metacarpal, Spondylolisthesis |
OMIM:617877 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Missing ribs, Short neck, Micromelia, Micrognathia, Humeroradial synostosis, Ab... |
OMIM:251230 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis |
OMIM:618624 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Micrognat... |
OMIM:134780 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint... |
OMIM:619122 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Elbow dislocation, Pectus ex... |
OMIM:150250 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... |
OMIM:213980 |
| Sillence Syndrome |
|
Back pain, Aplasia of the middle phalanx of the hand, Flat acetabular roof, Platyspondyly, Short ... |
ORPHA:3168 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Mesomelic arm shortening, Flat acetabular roof, Short foot, Ir... |
OMIM:609616 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Supernumerary ribs, Scoliosis, Bifid ribs,... |
ORPHA:50 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Sh... |
ORPHA:508498 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the radius, Short ribs, Short tibia, Butter... |
OMIM:607143 |
| Caudal Duplication |
|
Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cord lesion, Ver... |
ORPHA:1756 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... |
OMIM:253000 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Atlantoaxial instability, Punctate vertebral calcifications, Spinal canal sten... |
ORPHA:79345 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Sclerosis of skull base, ... |
OMIM:130720 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathi... |
ORPHA:263508 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma... |
ORPHA:1834 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta |
ORPHA:1185 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta |
OMIM:268850 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Long clavicles, Micrognathia, Rh... |
ORPHA:397715 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Abnormal shoulder morphology, Phocomelia, Genu varum, Death ... |
OMIM:274000 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, An... |
OMIM:161200 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Cupped ribs, Delayed epiphyseal ossif... |
OMIM:250220 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Micrognathia, Thin ribs... |
OMIM:617952 |
| Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Microretrognathia, Rhizomelia, Recurrent fractures, Beaded ri... |
OMIM:616229 |
| Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Micrognathia, La... |
OMIM:600920 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
| Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hemivertebrae, Missing ribs |
OMIM:220210 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentati... |
ORPHA:52 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Scoliosis, Bifid ri... |
OMIM:304050 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Wide anterior fontanel, Micrognathia, Fibular hypoplasia, Decr... |
OMIM:617925 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Spina bifida occulta, Short 1st metacarpal, ... |
ORPHA:949 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Lateral clavicle hook, Fibular hypoplasia, Short rib... |
OMIM:613091 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d... |
ORPHA:90652 |
| Juberg-Hayward Syndrome |
|
Short thumb, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radius, Radioul... |
ORPHA:2319 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Micromelia, Lateral clavicle hook, Hypoplasia of the radius, Short ribs, Nar... |
OMIM:617895 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Short neck, Micrognathia, Elbow flexion contracture, Knee flex... |
OMIM:616266 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ... |
ORPHA:85172 |
| Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies |
OMIM:601187 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... |
ORPHA:96169 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... |
OMIM:617137 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short neck, Short toe, Short thorax, Short foot, Limb undergrowth, Thoracic... |
OMIM:269860 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, ... |
ORPHA:87 |
| Grant Syndrome |
|
Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morphology, Join... |
ORPHA:2097 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Disproportionate shortening of the tibia, Platyspondyly,... |
OMIM:263520 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... |
OMIM:607326 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Undulate ribs, Thin ribs, Sub... |
OMIM:618188 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Spina bifida occulta, Small hand, Short palm |
ORPHA:1786 |
| Achondrogenesis Type 1B |
|
Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short thorax, Abnormal ri... |
ORPHA:93298 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Short thorax, Hip disloc... |
ORPHA:2484 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Short thorax, Joint hyperfl... |
ORPHA:93274 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Flat acetabu... |
OMIM:256050 |
| Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Scoliosis |
OMIM:617466 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Short foot, Fused cervi... |
OMIM:157800 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... |
OMIM:166210 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... |
ORPHA:1345 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... |
ORPHA:166011 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis... |
ORPHA:1507 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Micromelia, Flat acetabular roof, Thoracic dysplasia, Short ribs, Narrow ch... |
OMIM:614091 |
| 3Mc Syndrome |
|
Hyperlordosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida occulta, Caudal appendage |
ORPHA:293843 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Hyperlordosis, Spina bifida occulta, Scoliosis, Micrognathia |
ORPHA:2780 |
| Weaver Syndrome |
|
Dysharmonic bone age, Short fourth metatarsal, Accelerated skeletal maturation, Kyphosis, Short r... |
OMIM:277590 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly... |
OMIM:608940 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Micrognathia, Knee flexion contracture, Short ribs, Pathologic fracture |
OMIM:156400 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
| Pallister-Hall Syndrome |
|
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation, Mesomelia, Neonatal death, S... |
OMIM:146510 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Narrow chest, Short tibia, Interpha... |
ORPHA:96334 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Narrow chest, Acetabular spurs, Short ribs... |
OMIM:225500 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
| Carpenter Syndrome 1 |
|
Sacral dimple, Short neck, Micrognathia, Aplasia/Hypoplasia of the middle phalanges of the toes, ... |
OMIM:201000 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Hydr... |
OMIM:600145 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Limb undergrowth,... |
ORPHA:93352 |
| Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Spina bifida occulta, Scoliosis, Short neck |
OMIM:193700 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Unicoronal synostosis, Flat acetabular roof, Fibular hypoplasia, B... |
OMIM:616300 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Pectus cari... |
OMIM:184250 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Tetraamelia |
ORPHA:3301 |
| Dental Anomalies And Short Stature |
|
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... |
OMIM:601216 |
| Limb Body Wall Complex |
|
Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida, Abnormal spin... |
ORPHA:2369 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Multiple rib fractures, Thin bony cortex, Rhizomeli... |
OMIM:613848 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Short middle phalanx of finger, Scol... |
OMIM:613823 |
| Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Pectus excavatum, Flat acetabular roof,... |
OMIM:608728 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Recurrent fractures, Small abnormally forme... |
ORPHA:140 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Micrognathia, Short neck, Short distal phalanx of the 5th finger, Short foot, S... |
OMIM:620073 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Short hallux, Micrognathia, Kyphosis, Delayed skel... |
ORPHA:280 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Micrognathia, Hemivertebrae, Rib fusion, ... |
ORPHA:97360 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Accelerated skeletal maturation, Short neck, Micrognathia, Multiple joint dislocation... |
OMIM:245600 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micrognathia, Hypopla... |
OMIM:200980 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow dislocation, Pectus... |
ORPHA:2462 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Short fo... |
OMIM:227330 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... |
ORPHA:93314 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
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 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Geroderma Osteodysplastica |
|
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... |
ORPHA:2078 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Narrow... |
OMIM:304120 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Micrognathia, Abnormal sacrum morphology, Short clavicles, Scoliosis, Spina... |
ORPHA:1452 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Micrognathia, Wide anterior fontanel, Vertebral arch ... |
ORPHA:85184 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Micrognathia, Kyphosis, Abnormal rib morphology, Abnormal form of the verteb... |
ORPHA:2050 |
| 3C Syndrome |
|
Death in infancy, Missing ribs, Short neck, Kyphosis, Micrognathia, Hemivertebrae, Scoliosis |
ORPHA:7 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Thi... |
ORPHA:83617 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Recurrent fractures, Multiple pr... |
OMIM:610915 |
| Anus, Imperforate |
|
Ectopic anus, Anal atresia |
OMIM:301800 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... |
OMIM:614856 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
| Hall-Riggs Syndrome |
|
Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... |
OMIM:234250 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
| Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphology, Abnormal form of ... |
ORPHA:2876 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Platyspon... |
OMIM:602111 |
| Distal Deletion 10Q |
|
Lumbar hyperlordosis, Spina bifida occulta, Short metatarsal, Micrognathia |
ORPHA:96148 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short neck, Pectus excavatum, Micrognathia, Short toe, Short thumb, Hip dislocatio... |
OMIM:613458 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, Short thumb, ... |
OMIM:263750 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Delayed skeletal maturation, Patellar aplasia, Hypoplasia of ... |
OMIM:617604 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Thoracic dysplasia, Narrow chest, Short ribs, Acetabular spurs |
OMIM:615503 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, P... |
ORPHA:60041 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal |
OMIM:618724 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column |
OMIM:600776 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ... |
ORPHA:3404 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Micromelia, Elbow dislocation, Short thumb, Hypoplasia of the radius, Hip... |
ORPHA:3258 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Edema, Pedal edema |
OMIM:152800 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Seckel Syndrome 8 |
|
Spinal cord compression, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness |
OMIM:252920 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... |
OMIM:255800 |
| Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Short thorax, Joi... |
ORPHA:2655 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... |
OMIM:619698 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Micromelia, Hyperlordosis, ... |
ORPHA:2616 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... |
OMIM:269150 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Thin ribs, Short foot, Platyspondyly, Short palm |
ORPHA:163966 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Prominent metopic ridge, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, Wide... |
OMIM:266920 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Lower limb undergrowth, Micrognathia |
ORPHA:3035 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Hypoplasia of the radiu... |
ORPHA:233 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Small hand, Short foot, Scoliosis, Short palm, Umbilical hernia, Spina bifida occulta |
OMIM:235510 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, Small hand, Short foo... |
OMIM:617140 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof, Pectus carinatum,... |
OMIM:184260 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality... |
ORPHA:239 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Lumbar scoliosis, Hypoplastic cervical vertebrae, Scoliosis |
OMIM:620269 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Abnormality of the elbow, Fla... |
ORPHA:163649 |
| Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum |
ORPHA:250984 |
| Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... |
OMIM:239850 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Scoliosis, Short palm, Tracheobronchomala... |
OMIM:619184 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... |
ORPHA:93360 |
| Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Delayed epiphyseal ossification, ... |
OMIM:156550 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Short hallux, Micrognathia, Kyph... |
OMIM:194190 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ... |
OMIM:105650 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Short ribs, Scoliosis, Short clavicles, Coarse metaphyseal trabeculariza... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Aplastic clavicle, Short neck, Short ribs, Narrow chest |
OMIM:616546 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... |
ORPHA:319195 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Short thumb, Abnormal rib morphology, Vertebral segmentation defect, Short dist... |
ORPHA:1120 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Small hand, Short foot, Spina bifida occulta, Distal shortening of limbs |
ORPHA:488434 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... |
ORPHA:93346 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Elbow flexion contracture, Hip dislo... |
OMIM:210600 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Short humerus, Short hallux, Radial club hand, Short th... |
ORPHA:959 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Hyper... |
ORPHA:73230 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo... |
ORPHA:1856 |
| Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility |
ORPHA:90653 |
| Acrofacial Dysostosis 1, Nager Type |
|
Abnormality of the cervical spine, Aplasia/Hypoplasia of the thumb, Micrognathia, Absent thumb, A... |
OMIM:154400 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis |
OMIM:619638 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Micrognathia, Short neck, Kyphosis, Aplasia/Hypoplasia of toe, Abnormal rib morphology, Aplasia/H... |
ORPHA:3082 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Short neck, Micrognat... |
ORPHA:958 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Limitation of joint mobility |
OMIM:619598 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Platyspondyly, Osteosc... |
ORPHA:174 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia |
OMIM:618356 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sacral dimple, Micrognathia, Wide anterior fontanel, Hydrocephal... |
ORPHA:235 |
| Basilar Impression, Primary |
|
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck |
OMIM:109500 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Accelerated skeletal ma... |
OMIM:253220 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis |
ORPHA:71267 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo... |
ORPHA:94068 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... |
OMIM:300232 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
| 3Mc Syndrome 1 |
|
Sacral dimple, Wide anterior fontanel, Short foot, Short 5th finger, Spina bifida occulta, Caudal... |
OMIM:257920 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Death in infancy, Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture... |
OMIM:618947 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... |
ORPHA:3068 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... |
ORPHA:444077 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathia, Mesomelia... |
OMIM:613610 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Broad ribs, Absent para... |
OMIM:269300 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, Abnormal... |
ORPHA:1318 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Spina bifida occulta, Short neck |
OMIM:611929 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Rhizomelia, Recurrent... |
OMIM:610682 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Arthritis, Platyspondyl... |
OMIM:108300 |
| Odontochondrodysplasia |
|
Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis |
ORPHA:166272 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:615222 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Micrognathia, Hydrocephalus, Fibular hypoplasia, Scoliosis, Thoracolu... |
OMIM:300373 |
| Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Limited elb... |
OMIM:607095 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
| Cantú Syndrome |
|
Ovoid vertebral bodies, Accelerated skeletal maturation, Short neck, Delayed skeletal maturation,... |
ORPHA:1517 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
| Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Short toe, Limitation of joint mobility, Enlarged ... |
OMIM:139210 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Accelera... |
ORPHA:373 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck |
ORPHA:50810 |
| Ollier Disease |
|
Platyspondyly, Bone pain, Osteolysis, Joint stiffness |
ORPHA:296 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Anisospondyly, Micrognathia, Neonatal death, Pterygium, Thoracic hypoplasia |
OMIM:224410 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... |
OMIM:156500 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
