Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Myelomen... |
ORPHA:63259 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Absent or minimally os... |
ORPHA:66637 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... |
ORPHA:168549 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... |
OMIM:184255 |
Odontoid Hypoplasia |
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Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Knee dislocation, Narrow chest, Neonatal death, Verte... |
OMIM:108720 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Pectus excavatum... |
ORPHA:2522 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Limited e... |
OMIM:134780 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... |
ORPHA:268882 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Myopathy, Cervical C2/C3 ... |
OMIM:616549 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu... |
OMIM:602557 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Aplasia/hypoplasia of the extremities,... |
ORPHA:485 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... |
OMIM:305620 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Facet joint arthrosis, Osteoarthritis, ... |
OMIM:618000 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short thumb, Short toe, Upper limb muscle weakness, Short distal phalanx of the thumb, Cervical C... |
ORPHA:370010 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce... |
OMIM:182940 |
Fibrochondrogenesis 1 |
|
Short neck, Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Rhizomelia... |
OMIM:228520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Short metatarsal, Spina bifida occulta, Wrist flexion contr... |
ORPHA:1826 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossification, Abnormal ... |
ORPHA:93315 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Limitation... |
ORPHA:3101 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Facial palsy, Absent thumb, Absent ... |
OMIM:607323 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly, Intrauterine growth retardation |
OMIM:617333 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... |
ORPHA:3320 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hemivertebrae... |
OMIM:615583 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Inc... |
OMIM:224300 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Fa... |
ORPHA:508498 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Patent ductus arteriosus, Osteoporos... |
OMIM:617190 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contrac... |
OMIM:151200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short thorax, Vertebral segmentation d... |
OMIM:618845 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... |
OMIM:253000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Abnormal shoulder morphology, Phocomelia, Genu varum, Hypopl... |
OMIM:274000 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junc... |
OMIM:271650 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Congenital hip dislocation... |
OMIM:308050 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal... |
OMIM:601370 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... |
OMIM:184460 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... |
OMIM:113000 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... |
ORPHA:2790 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Pectus carinatum,... |
ORPHA:313892 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal thorax morphology, Small hand, Holoprosencephaly, Scoliosis, T... |
ORPHA:1445 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Lumbar ... |
OMIM:620269 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Sho... |
OMIM:617159 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small hand, Short foot, J... |
ORPHA:915 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Hemivertebrae, Ab... |
ORPHA:2916 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Micrognathia, Kyphosis, Pectus excavatum, Me... |
OMIM:130720 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical... |
ORPHA:1780 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplast... |
ORPHA:3027 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Pectus carinat... |
ORPHA:93314 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Patent ductus arteriosus, Optic atrophy, Hypoplastic vertebral bodies, Platyspon... |
OMIM:230600 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of... |
OMIM:264180 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ... |
ORPHA:85172 |
Dysosteosclerosis |
|
Increased bone mineral density, Recurrent fractures, Optic atrophy, Hypoplastic vertebral bodies,... |
ORPHA:1782 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Delayed skeletal maturation, Hypo... |
OMIM:601187 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemiverteb... |
OMIM:109400 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Mesomelic/rhizomelic limb shortening, Short neck, Hypoplastic vertebral bod... |
ORPHA:2347 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Patent ductus arteri... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, I... |
OMIM:230500 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Occipital encephalocele, Long clavicles, Abnormal acetabulum mor... |
ORPHA:397715 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Pectus excavatum, Elbow disl... |
OMIM:150250 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Multicentric femoral head ossificati... |
OMIM:607326 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scolios... |
ORPHA:64755 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Camptodactyly of finger, Short hallux, Micrognathi... |
ORPHA:90652 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Hydrocephalus, Optic atrophy, Cervical C5/C6 vertebr... |
ORPHA:87 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Abnormal rib morphology,... |
ORPHA:2876 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Decrea... |
ORPHA:955 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Hypoplastic frontal... |
ORPHA:90650 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Short meta... |
ORPHA:93307 |
Apert Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Decreased muscle mass, Congenital hip dislocation, Elbow contr... |
OMIM:617137 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Thoracic kyphosis, Multicentr... |
OMIM:223800 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Hypoplastic cervical verte... |
ORPHA:56304 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ... |
OMIM:105650 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Accelerated skeletal maturation, Hydrocephalus, Neonatal epiphyseal stippling, ... |
OMIM:101800 |
Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Joint stiffness, Pectus excavatum, Delayed skeletal maturation, Hy... |
ORPHA:2746 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnormal ri... |
ORPHA:93298 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Upp... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... |
OMIM:184250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h... |
OMIM:171480 |
Dyggve-Melchior-Clausen Disease |
|
Rhizomelia, Glenoid fossa hypoplasia, Short neck, Hypoplasia of the odontoid process, Abnormality... |
ORPHA:239 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Delayed skeletal maturation, Hypoplastic vertebral bodies, Holoprosencephaly, S... |
ORPHA:2163 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o... |
ORPHA:56305 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hyp... |
OMIM:300232 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Beak... |
ORPHA:79255 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... |
ORPHA:35173 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Dislocated radial he... |
OMIM:268310 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Patent ductus arteriosus, Optic atrophy |
OMIM:616368 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Short neck, Beaded rib... |
OMIM:200600 |
Mucopolysaccharidosis, Type Iiid |
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Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Short neck, Joint stiffness, Achilles tendon... |
OMIM:252940 |
Mesomelic Dysplasia, Kantaputra Type |
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Tarsal synostosis, Camptodactyly of finger, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Spondylocarpotarsal Synostosis Syndrome |
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Vertebral fusion, Short metacarpal, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlo... |
OMIM:272460 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida, Congenital diaphragmatic hernia, Short thumb, Patent ductus arteriosus, Abnormal ri... |
ORPHA:1120 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Lower limb undergrowth, Short middle phalanx of the 5th finger, Dis... |
OMIM:186500 |
Infantile Liver Failure Syndrome 3 |
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Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys... |
OMIM:618641 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Mucopolysaccharidosis, Type Vi |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... |
OMIM:253200 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Micromelia, Short neck, Lateral clavicle hook, Accelerated skeletal maturat... |
ORPHA:3144 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1488 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Facial hypotonia, Short neck, Micrognathia, Short thumb, Short toe, Pectus excavat... |
OMIM:613458 |
Smith-Mccort Dysplasia 2 |
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Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Hyperlordosis, Short neck... |
OMIM:615222 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Long clavicles, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Cle... |
ORPHA:83617 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Recurrent fractures, Joint hypermobility, Micrognathia, Thin ribs, Biconcave verteb... |
OMIM:617952 |
Aicardi Syndrome |
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Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Hemivertebrae, Rib fusion, Opti... |
OMIM:304050 |
Eiken Syndrome |
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Absence of the sacrum, Abnormal acetabulum morphology, Short toe, Delayed epiphyseal ossification... |
ORPHA:79106 |
Sacral Defect With Anterior Meningocele |
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Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
White-Sutton Syndrome |
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Joint laxity, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Short ne... |
OMIM:616364 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Osteopenia, Congenital hip dislocation, Hyperlordosis, Micrognathia, Hypoplasia of the odontoid p... |
OMIM:616007 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Micrognathia, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Flat ... |
OMIM:252500 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Prominent metopic ridge, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hydroceph... |
OMIM:619512 |
Sirenomelia |
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Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Holt-Oram Syndrome |
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Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Pectus excavatum, Kyphosis, P... |
ORPHA:392 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Micrognathia, Patent ductus arteriosus, Small hand, Fibular hypoplasia, Hypoplasia... |
ORPHA:444077 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Patent duct... |
OMIM:610443 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short... |
OMIM:213980 |
Multiple Sulfatase Deficiency |
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Hypoplastic vertebral bodies, Hydrocephalus |
OMIM:272200 |
Cartilage-Hair Hypoplasia |
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Joint laxity, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
Saul-Wilson Syndrome |
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Short metacarpal, Micrognathia, Pectus excavatum, Hypoplasia of the odontoid process, Short metat... |
OMIM:618150 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus, Recurrent fractures, Micrognathia, Kyphosis, Abnormal rib morphology... |
ORPHA:2050 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Barrel-shaped chest, Shortening of all middle phalanges of the fingers, Hyperlordosis, Hip sublux... |
OMIM:226980 |
Vacterl With Hydrocephalus |
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Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia... |
ORPHA:3412 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... |
ORPHA:96169 |
Cartilage-Hair Hypoplasia |
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Micromelia, Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, P... |
ORPHA:175 |
Phocomelia, Schinzel Type |
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Micromelia, Aplasia of the ulna, Short neck, Micrognathia, Hypoplasia of the radius, Aplasia/Hypo... |
ORPHA:2879 |
Hurler Syndrome |
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Hypoplasia of the femoral head, Short neck, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Absence of the sacrum, Butterfly vertebrae, Spinal dysraphism |
OMIM:617660 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Patent ... |
OMIM:164210 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Micrognathia, Absent radius... |
ORPHA:233 |
Vacterl/Vater Association |
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Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia... |
ORPHA:887 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Abnormal calcif... |
OMIM:271665 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Congenital diaphragmatic h... |
ORPHA:373 |
Aarskog-Scott Syndrome |
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Joint laxity, Hyperextensibility of the finger joints, Short neck, Pectus excavatum, Hypoplasia o... |
OMIM:305400 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Micrognathia, Increased intervertebral space, Abnormality of the cervical... |
ORPHA:508533 |
Fucosidosis |
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Cervical platyspondyly, Barrel-shaped chest, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo... |
OMIM:230000 |
Aicardi Syndrome |
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Block vertebrae, Missing ribs, Optic disc coloboma, Small hand, Rib fusion, Optic atrophy, Supern... |
ORPHA:50 |
Kbg Syndrome |
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Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... |
OMIM:148050 |
Myhre Syndrome |
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Vertebral fusion, Short neck, Joint stiffness, Short toe, Generalized muscle hypertrophy, Patent ... |
OMIM:139210 |
Elsahy-Waters Syndrome |
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Pectus excavatum, Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio |
OMIM:211380 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Robinow Syndrome |
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Fused thoracic vertebrae, Kyphoscoliosis, Micrognathia, Missing ribs, Mesomelic arm shortening, H... |
ORPHA:97360 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Short fo... |
OMIM:227330 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Decreased muscle mass, Short hal... |
OMIM:194190 |
Marshall-Smith Syndrome |
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Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Thoracic... |
OMIM:602535 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Myocardial calcification, Stippled calcification of the sh... |
ORPHA:51608 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Foot oligodac... |
OMIM:276820 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Short hallux, Sho... |
ORPHA:959 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short f... |
ORPHA:488434 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Short humerus, Short femur, Irregular sclerotic endplates, Kyphoscoliosis, Camptodact... |
ORPHA:3455 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Patent d... |
OMIM:306955 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Patent ductus arteriosus, Hypo... |
OMIM:192350 |
Oeis Complex |
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11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Sacral seg... |
OMIM:258040 |
Codas Syndrome |
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Short humerus, Short metacarpal, Congenital hip dislocation, Hypoplasia of the odontoid process, ... |
OMIM:600373 |
Currarino Syndrome |
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Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosi... |
OMIM:300106 |
Sacral Agenesis With Vertebral Anomalies |
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Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Osteopenia, Short metacarpal, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Small hand, Short... |
OMIM:614813 |
Fanconi Anemia, Complementation Group L |
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Hypoplastic sacrum, Short neck, Absent radius, Absent thumb, Micrognathia, Hydrocephalus, Intraut... |
OMIM:614083 |
Currarino Syndrome |
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Absence of the sacrum, Hemisacrum, Bifid sacrum, Presacral teratoma, Anterior sacral meningocele |
OMIM:176450 |
Heterotaxy, Visceral, 5, Autosomal |
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Absence of the sacrum, Patent ductus arteriosus, Intrauterine growth retardation |
OMIM:270100 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Hypoplastic sacrum |
OMIM:604292 |