Fascial Dystrophy, Congenital |
|
Abnormal thorax morphology, Limitation of joint mobility, Lower-limb joint contracture |
OMIM:228020 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... |
OMIM:173800 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis |
ORPHA:85193 |
Mycetoma |
|
Back pain, Abnormal thorax morphology, Bone cyst, Osteoporosis, Abnormal form of the vertebral bo... |
ORPHA:2583 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:613982 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
Geroderma Osteodysplastica |
|
Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral bodies, Pectus carin... |
ORPHA:2078 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Bell-shaped thorax, Platyspond... |
OMIM:602557 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... |
OMIM:602484 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Biconcave vertebral bodies, Vertebral compression fracture, Generalized osteoporosis, ... |
OMIM:617952 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Delayed epiphyseal ossification, Generalized bone demineralization, Pl... |
ORPHA:93352 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Beaded ribs, Platyspondyly, Decreased calvarial ossification,... |
OMIM:616229 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral c... |
OMIM:610968 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Paraparesis, Osteolysis, Sclerosis of skull base, Tetrap... |
OMIM:602080 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Short neck, Kyphosis, Pectus carinatum, Squared-off platyspondyly, Scolios... |
OMIM:271530 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Thoracic hypoplasia, Thin ribs, Platyspon... |
OMIM:613848 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Pectus carinatum, ... |
OMIM:609223 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Reduced bone mineral density, Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-... |
OMIM:600561 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal enchondral ossification, Kyphosis, Abnormal rib... |
ORPHA:2635 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Spinal rigidity, Hyperlord... |
ORPHA:267 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... |
OMIM:255600 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Elbow contracture, Hyp... |
OMIM:606612 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Coronal craniosynostosis, Reduced bone mineral density, Scoliosis, Vertebral compress... |
OMIM:112240 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Decreased calvarial ossifica... |
OMIM:610915 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... |
OMIM:109400 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... |
ORPHA:1988 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... |
ORPHA:63446 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies |
ORPHA:1802 |
Geroderma Osteodysplasticum |
|
Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Osteoporosis, Irregular vertebral end... |
OMIM:231070 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o... |
OMIM:618167 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Scoliosis |
ORPHA:640 |
Aicardi Syndrome |
|
Dandy-Walker malformation, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thu... |
OMIM:304050 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, Short neck, Pectus excavatum, Cryptorchidism, Osteoporosis, Pectus carinatum, Sco... |
OMIM:309583 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... |
OMIM:618524 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging |
OMIM:617719 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Joint hypermobility, Kyphoscoliosis, Hyperlordosis, Coxa valga, Accelerated skel... |
OMIM:618363 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... |
OMIM:160500 |
Osteogenesis Imperfecta, Type Xvii |
|
Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Platyspondyly, Vertebral compression ... |
OMIM:616507 |
Pyle Disease |
|
Abnormal thorax morphology, Reduced bone mineral density, Platyspondyly, Scoliosis, Thin bony cortex |
OMIM:265900 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint... |
ORPHA:157973 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node |
OMIM:604864 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee... |
OMIM:610687 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... |
OMIM:611067 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyl... |
OMIM:609052 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... |
OMIM:617405 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal mu... |
OMIM:617760 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Lower limb muscle ... |
OMIM:611225 |
Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Pectus carinatum, Shield chest, Platyspondyly, Vertebral c... |
OMIM:605822 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Asymmetry of the thorax, Narrow chest, Kyphoscoliosis |
OMIM:618644 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short neck, Pectus excavatum, Increased vertebral height, Hy... |
OMIM:273750 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... |
ORPHA:206546 |
Aicardi Syndrome |
|
Ventriculomegaly, Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, ... |
ORPHA:50 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ... |
OMIM:616471 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... |
OMIM:256050 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Hydrocephalus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Typical Nemaline Myopathy |
|
Facial palsy, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Spinal rigidity, Limb-girdle... |
ORPHA:171436 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Thickened cortex of long bones, Scoliosis |
ORPHA:53697 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteolysis, Vertebral compression fracture |
ORPHA:77259 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cer... |
OMIM:307500 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia, Reduced sperm ... |
OMIM:602271 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum, Skeletal mu... |
OMIM:255710 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Kyphoscoliosis, Osteoporosis, Osteolysis involving tarsal bones, Metatarsal osteolysi... |
OMIM:259600 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis... |
OMIM:259770 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Cubitus valgus, 2-3 toe syndactyly, Weakness of fa... |
OMIM:610313 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... |
ORPHA:429 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... |
OMIM:161800 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... |
OMIM:617087 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Facial palsy, Shoulde... |
OMIM:617114 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Joint laxity, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb ... |
ORPHA:353327 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1354 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Pectus cari... |
OMIM:252605 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bon... |
OMIM:611209 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Mucolipidosis Type Iii |
|
Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies, Reduced bone mineral densi... |
ORPHA:577 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Flexion contracture, Hip dislocation, Skeletal muscle hypertrophy, M... |
OMIM:613156 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the... |
OMIM:255800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus ex... |
ORPHA:2990 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Rib fusion, Hand polydactyly, Impaired social ... |
ORPHA:261197 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Scoliosis, Paralysis |
OMIM:605285 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limited elbow extens... |
ORPHA:156728 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hemivertebrae... |
OMIM:615583 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ... |
OMIM:609308 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... |
OMIM:611588 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Hyperlordosis |
ORPHA:352470 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Pectus carinatum, Sclerosis of skull base, Platyspondyly |
OMIM:313420 |
Familial Anetoderma |
|
Generalized joint laxity, Abnormal tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Joint laxity, Scapular winging, Ventriculomegaly, Monkey wrench femoral neck, ... |
OMIM:618870 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... |
OMIM:184100 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal thumb morphology, Abnormality of the wri... |
ORPHA:2511 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax |
ORPHA:93283 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... |
ORPHA:970 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... |
ORPHA:2310 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyl... |
OMIM:618393 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, Hypoplastic... |
ORPHA:93315 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Delayed s... |
ORPHA:3068 |
Gaucher Disease, Type I |
|
Vertebral compression fracture |
OMIM:230800 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumbar vertebral bodies, Osteoporosi... |
OMIM:102500 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies... |
ORPHA:1486 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... |
ORPHA:915 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... |
ORPHA:353 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Rib fusion, Facial palsy, Hemivertebrae |
OMIM:614688 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... |
ORPHA:1445 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Beaking of vert... |
OMIM:618961 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... |
OMIM:620285 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Abnormal cla... |
ORPHA:3416 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Decrea... |
ORPHA:2234 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic scapulae, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic il... |
OMIM:169550 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly |
OMIM:609324 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Pectus excavatum, Decreased calvarial ossification, Narrow ch... |
OMIM:610682 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... |
ORPHA:86812 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis |
OMIM:616756 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... |
OMIM:615222 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Abno... |
ORPHA:79106 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis |
OMIM:618728 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:85174 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Bruck Syndrome 1 |
|
Kyphosis, Osteoporosis, Vertebral wedging, Pectus carinatum, Platyspondyly, Scoliosis |
OMIM:259450 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve compression, Osteolysis, Incre... |
ORPHA:52430 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,... |
OMIM:114300 |
Osteogenesis Imperfecta |
|
Osteopenia, Multiple rib fractures, Ataxia, Cervical kyphosis, Pectus excavatum, Kyphosis, Abnorm... |
ORPHA:666 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, ... |
OMIM:314580 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Bowing of the legs, Hip joint hypermobility, Kyphosis, Wide ... |
ORPHA:15 |
Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... |
ORPHA:175 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Fused ce... |
ORPHA:238722 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Tho... |
OMIM:619542 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... |
OMIM:176920 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, F... |
ORPHA:75840 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Ck Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Hyperlordosis |
OMIM:300831 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis, Abnormal so... |
ORPHA:530983 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... |
OMIM:607095 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin... |
OMIM:619467 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ... |
ORPHA:3218 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis, Thin bony cortex |
OMIM:619638 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo... |
ORPHA:93351 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, M... |
OMIM:130720 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Facial myokymia, Pectus carinatum |
OMIM:620007 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... |
ORPHA:93267 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Congenital hip dislocation, Centrally... |
OMIM:255310 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Ventriculomegaly |
ORPHA:319199 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Short 3rd metacarpal, Limb undergrowth, Short tibia, Short 4th metacarpal, Short 2nd ... |
OMIM:118651 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Kypho... |
ORPHA:1606 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Platyspondyly, Biconcave vertebral bodies, Vertebral wedging |
OMIM:610967 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, Scoliosis, Arthrogryposis multiple... |
ORPHA:178148 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Facial palsy, Hyperlordosis, High iliac wing, Asymmetry of the th... |
ORPHA:2780 |
Hall-Riggs Syndrome |
|
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis |
OMIM:234250 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c... |
ORPHA:101075 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly |
ORPHA:85198 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis |
ORPHA:71267 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Multiple Myeloma |
|
Osteopenia, Vertebral compression fracture |
ORPHA:29073 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Vertebral compression fracture, Osteolysis |
OMIM:263700 |
Three M Syndrome 3 |
|
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... |
OMIM:614205 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... |
OMIM:161200 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
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Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Platyspondyly, Scoliosis |
OMIM:619131 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... |
ORPHA:2916 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,... |
ORPHA:94068 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Lumbar hyperlor... |
ORPHA:370959 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... |
OMIM:305620 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ... |
ORPHA:171881 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig... |
OMIM:616817 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis |
ORPHA:276630 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... |
OMIM:607326 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... |
ORPHA:3041 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteo... |
OMIM:165800 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification of carpal bones, S... |
OMIM:618392 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... |
OMIM:206900 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology |
ORPHA:1513 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Clinodactyly of the 5th finger, Wide anterior fontanel, Delayed skeletal maturation, Optic disc c... |
OMIM:607872 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... |
OMIM:146000 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Spina bifida, Proximal placement of thumb, Short thumb, Preaxial... |
ORPHA:1120 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... |
ORPHA:1488 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Platyspondyly |
ORPHA:2619 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Facial diplegia, Hip dysplasia... |
OMIM:611890 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu... |
ORPHA:166002 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit... |
ORPHA:268 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation, Scoliosis,... |
ORPHA:2181 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Ck Syndrome |
|
Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Joint hypermobility |
ORPHA:251383 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... |
OMIM:616549 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Neonatal death |
OMIM:618237 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ... |
ORPHA:3027 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Congenita... |
ORPHA:280 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly |
OMIM:271600 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Delayed epiphyseal ossification, Flexion contracture, Hyp... |
OMIM:616007 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lowe... |
OMIM:250250 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... |
ORPHA:2876 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects of the phala... |
ORPHA:2484 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Pectus carinatum, Scoliosis |
ORPHA:1548 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Cushing Disease |
|
Osteoporosis, Secondary amenorrhea, Oligomenorrhea, Abnormal libido, Vertebral compression fractu... |
ORPHA:96253 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Kyphosis, Short thorax, Flexion contracture, Osteoporosis, Pectus carina... |
ORPHA:87876 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Hyperlordosis, Coxa vara, Abnormal form of the vertebral bodies,... |
ORPHA:2831 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... |
ORPHA:2614 |
Grant Syndrome |
|
Abnormal rib morphology, Decreased skull ossification, Narrow chest, Sprengel anomaly, Abnormal c... |
ORPHA:2097 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... |
OMIM:608940 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Vertebral compression fracture, Deformed rib cage |
ORPHA:811 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Platyspondyly, Osteoporosis, Scoliosis |
OMIM:126550 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Meningocele, Abno... |
ORPHA:2789 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosi... |
ORPHA:48431 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abno... |
ORPHA:800 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Increased bone mineral density, Wo... |
ORPHA:1798 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly |
OMIM:184840 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Short thorax, Limitation of joint mobility, Joint hyperfl... |
ORPHA:93274 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ... |
OMIM:618291 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Squared iliac b... |
OMIM:618000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Increased skull ossification, Craniofacial ... |
OMIM:618476 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis... |
ORPHA:568 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short toe, Brachydactyly |
ORPHA:3085 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation |
ORPHA:85288 |
Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... |
OMIM:615155 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Scapular winging, Short metacarpal, Ivory epiphyses of the distal phalanges of the ha... |
OMIM:190350 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Delayed skeletal maturation, Thoracic kyphosis, Short 5th f... |
ORPHA:557003 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,... |
OMIM:254090 |
Lethal Recessive Chondrodysplasia |
|
Limb undergrowth, Flared elbow metaphyses, Micromelia, Micrognathia |
ORPHA:1423 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... |
ORPHA:163649 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short n... |
OMIM:615065 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia |
ORPHA:93298 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... |
ORPHA:268882 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Lateral ventricle dilatation, Clinodactyl... |
ORPHA:544488 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio... |
ORPHA:1323 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas... |
OMIM:151210 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Platyspondyly |
ORPHA:157965 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Absent ossification of calvaria, Thin ribs, Bell-shaped thorax, Platyspondyly, Thora... |
OMIM:166210 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Short metacarpal, Tapered finger, Opt... |
OMIM:216550 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Scoliosis |
ORPHA:2771 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Hypoplastic vertebral bodies, Irregula... |
ORPHA:1782 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Scoliosis, Hyperlordosis |
ORPHA:1387 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Spastic tetraplegia, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumba... |
OMIM:230600 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Joint hypermobility, Pectus excavatum, ... |
OMIM:610443 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Scoliosis, Limited... |
OMIM:619719 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... |
OMIM:607634 |
Bruck Syndrome 2 |
|
Osteopenia, Platyspondyly, Pectus carinatum |
OMIM:609220 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis in... |
ORPHA:73 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormality of the vertebral endplates, Platyspondyly, Delayed pubic bone ossification, Ovoid ver... |
ORPHA:1856 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Flexion contract... |
OMIM:215150 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Optic atrophy, Diap... |
OMIM:122860 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Hypoplast... |
OMIM:224300 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... |
ORPHA:508498 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, 2-3 toe syndactyly, Scoliosis, Hyperlordosis |
OMIM:617352 |
Jansen-De Vries Syndrome |
|
Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregu... |
OMIM:612813 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Persistent open anterior fontanelle, Generalized osteosclerosis, Na... |
ORPHA:763 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Platyspondyly, Delayed ossification of carpal bones, Cervical inst... |
ORPHA:93346 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Inappropriate laughter, Scoliosis |
ORPHA:505652 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo... |
ORPHA:254854 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Zttk Syndrome |
|
Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Optic atrophy, Rib fusion, ... |
OMIM:617140 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Congenital muscular dystrophy, Joint hyperflexibility |
ORPHA:1875 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Broad ribs, Thin bony cortex |
ORPHA:85184 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Ollier Disease |
|
Platyspondyly, Osteolysis |
ORPHA:296 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Narrow greater sciatic notch, Abnormality... |
ORPHA:508533 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Platyspondyly, Osteoporosis |
ORPHA:319195 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hydrocephalus, Joi... |
ORPHA:2655 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoepiphyses o... |
OMIM:194190 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Limitation of joint mobility, Hyperlordosis |
ORPHA:1192 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ... |
ORPHA:2249 |
Distal Deletion 10Q |
|
Scapular winging, Lumbar hyperlordosis, Sandal gap, Prominent metopic ridge, Craniosynostosis, Ta... |
ORPHA:96148 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle ... |
OMIM:600462 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Facial palsy, Sandal ga... |
OMIM:607323 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Osteoporosis, Pectus carinatum, Coronal cleft vertebrae, Platyspondyly... |
OMIM:184260 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Delayed ossifi... |
OMIM:602471 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction velocity |
ORPHA:99014 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy... |
OMIM:601152 |
Martsolf Syndrome 1 |
|
Joint laxity, Enlarged sylvian cistern, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpa... |
OMIM:212720 |
Progressive Pseudorheumatoid Dysplasia |
|
Kyphoscoliosis, Osteoporosis, Platyspondyly, Sclerotic vertebral endplates, Decreased cervical sp... |
OMIM:208230 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:600081 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
Myotonia Permanens |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Limitation of joint mobility, Hyperl... |
ORPHA:99735 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Aplasia/Hypoplasia of the abdo... |
ORPHA:354 |
3Mc Syndrome |
|
Diastasis recti, Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination o... |
ORPHA:293843 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Rocker bottom foot, Short neck, Kyphosis, Achilles tendon contract... |
OMIM:301041 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Pectus excavatum, Kyphosis, Absen... |
OMIM:108145 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the... |
ORPHA:2741 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ... |
ORPHA:99947 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... |
OMIM:602111 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Platyspondyly, Short neck |
OMIM:618958 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Recurrent fractures, ... |
ORPHA:2050 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosi... |
OMIM:620351 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, K... |
OMIM:310200 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Muscular dystrophy, Lower limb muscle we... |
OMIM:615980 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly, ... |
OMIM:239850 |
Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
Ruvalcaba Syndrome |
|
Short metacarpal, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Short foot, Na... |
OMIM:180870 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Platyspondyly, Thoracic kyphosis |
ORPHA:85194 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... |
ORPHA:373 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly |
ORPHA:250984 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Short neck, Abnormality of the humerus, Kyphosis, Wide an... |
ORPHA:3098 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... |
ORPHA:3130 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Pectus carinatum, Scoliosis, Prominent fingertip pads |
OMIM:300986 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Spina bifida, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Optic disc co... |
OMIM:234100 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Limb ... |
OMIM:614078 |
Osteochondrosis Of The Metatarsal Bone |
|
Thickened cortex of bones, Sclerosis of foot bone |
ORPHA:564003 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosynostosis, Co... |
OMIM:616294 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171430 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Hydrocephalus... |
ORPHA:1834 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... |
OMIM:271510 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Thoracic platyspondyly, Abnormal lumbar spine morphology, Bico... |
ORPHA:166011 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Umbilical herni... |
ORPHA:352490 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pectus excavatum, Kyphosis, Wide anterior fontanel, Umbilical hernia |
OMIM:618272 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy, Hyperlordosis |
ORPHA:269 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia, Abn... |
ORPHA:2631 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Ventriculomegaly, Short femur, Fractured radius, Short neck, ... |
OMIM:616897 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f... |
ORPHA:2633 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Pectus excavatum, Kyphosis, Cervical ribs |
ORPHA:77300 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... |
OMIM:252900 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Broad thumb, Brachydactyly |
ORPHA:171866 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:241530 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa v... |
OMIM:230000 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy |
ORPHA:369840 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... |
ORPHA:710 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Umbilical hernia, Arthrogryposis multiplex c... |
OMIM:615834 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Delayed skeletal maturati... |
ORPHA:812 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Pectus ... |
ORPHA:3219 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Odontochondrodysplasia |
|
Platyspondyly, Narrow chest, Scoliosis |
ORPHA:166272 |
Mcdonough Syndrome |
|
Pectus excavatum, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... |
ORPHA:73230 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Hypoplastic iliac wing, Joint stiffness, Short toe... |
OMIM:139210 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly |
ORPHA:90653 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Hydrocephalus, Femoral bowing, Tibial bow... |
OMIM:616482 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363958 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Hereditary Geniospasm |
|
Abnormality of mentalis muscle, Abnormal social behavior |
ORPHA:53372 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Vertebral clefting, Platyspondyly, Decreased calvarial ossification, Short ribs... |
OMIM:241500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis |
OMIM:300676 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphosis, Myopathy, Scolios... |
OMIM:162300 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Delayed epiphyseal ossification, Bell-shaped thorax, Short ribs, Narrow chest, Dyspla... |
OMIM:613320 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... |
OMIM:615084 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Missing ribs, Vertebral wedging, Decreased calvarial ossification, Platyspondyly, Short ribs, Tho... |
OMIM:617866 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus excavatum, Increased vertebr... |
OMIM:613385 |
Acrocephalopolydactyly |
|
Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Limb hypertonia, Ventriculomegaly, Pectus carinatum |
ORPHA:500180 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Hyp... |
ORPHA:2020 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo... |
ORPHA:2347 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Mild fetal ventriculom... |
OMIM:617190 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi... |
ORPHA:1860 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphos... |
ORPHA:500150 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... |
OMIM:618443 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Small hand, Camptodactyly, Hyperlordosis |
OMIM:619980 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Lumbar hyperlordosis, Congenital hip dislocation, Toe syndactyly, Sandal gap, S... |
OMIM:609625 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Laron Syndrome |
|
Limb undergrowth |
OMIM:262500 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ... |
ORPHA:959 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,... |
ORPHA:3121 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Ventriculome... |
ORPHA:2643 |
Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal maturation, Macroglossia, Hip dy... |
ORPHA:61 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis |
OMIM:610743 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... |
OMIM:227330 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... |
ORPHA:2970 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Osteoporosis, Secondary amenorrhea, Oligomenorrhea, Abnormal libido, Vertebral compression fractu... |
ORPHA:99889 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... |
ORPHA:794 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Joint laxity, Lumbar hyperlordosis, Toe syndactyly, Bilateral camptodactyly, Lumbar ky... |
OMIM:619234 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Toe syndactyly, 2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Limb under... |
OMIM:616809 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Platyspondyly, Kyphoscoliosis |
OMIM:612350 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe... |
ORPHA:573278 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Coronal cleft vertebrae, Platyspondyly... |
ORPHA:1190 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Macroglo... |
ORPHA:258 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Limitation of j... |
ORPHA:93473 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Wide anterior fontanel, Rhabdomyolysis,... |
ORPHA:26791 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... |
ORPHA:3035 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han... |
ORPHA:233 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Rickets, Bulging of t... |
OMIM:264700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Hyperlordosis, Accelerat... |
OMIM:613327 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Optic atrophy, Abnormal rib morphology, Abnormal pelvic gir... |
ORPHA:3378 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus... |
ORPHA:163966 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Myopathy, Scoliosis |
OMIM:618234 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Optic nerve hypoplasia, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped ep... |
ORPHA:221139 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... |
OMIM:620076 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Hydrocephalus, Optic atrophy,... |
ORPHA:3301 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Foot dorsiflexor weakness, Scoliosis |
OMIM:618124 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta... |
ORPHA:85170 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... |
OMIM:108300 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... |
OMIM:182212 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Accelerated skeletal mat... |
ORPHA:77301 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb morpho... |
ORPHA:94065 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexi... |
OMIM:608328 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital d... |
ORPHA:887 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
Iniencephaly |
|
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, ... |
ORPHA:63259 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... |
OMIM:248800 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ... |
OMIM:300280 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dense... |
OMIM:252930 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Ankle clonus, Distal amyotrophy,... |
OMIM:609541 |
3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Six lumbar vertebrae, Pectus carinatum |
ORPHA:65286 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Knee... |
OMIM:603387 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... |
ORPHA:3242 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Ulnar deviation of finger |
ORPHA:2928 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossifi... |
OMIM:271640 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Supernumerary vertebrae |
OMIM:263750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Bro... |
OMIM:301066 |
Hypophosphatasia |
|
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:436 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
3C Syndrome |
|
Finger syndactyly, Ventriculomegaly, Short neck, Missing ribs, Kyphosis, Hydrocephalus, Optic atr... |
ORPHA:7 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... |
ORPHA:52 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Finger clinodactyly, Basal encephal... |
ORPHA:391474 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Kniest Dysplasia |
|
Short neck, Pectus excavatum, Delayed epiphyseal ossification, Coronal cleft vertebrae, Platyspon... |
OMIM:156550 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly... |
ORPHA:457359 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Abnormal femur morpholog... |
ORPHA:93329 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Abnormal tibia morphology, A... |
ORPHA:2496 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Joint laxity, Sandal gap, Kyphosis, Small hand, Short foot, Macrogl... |
OMIM:300354 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp... |
OMIM:242900 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Testicular neoplasm, Fibrous dyspla... |
ORPHA:249 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... |
ORPHA:192 |
Anauxetic Dysplasia 3 |
|
Thoracolumbar kyphoscoliosis, Pectus excavatum, Platyspondyly, Narrow chest, Beaking of vertebral... |
OMIM:618853 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Paroxysmal bursts of laughter, Mesoaxial polydactyly, Radial bowing, Rib fusion, U... |
ORPHA:672 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Camptodactyly of fin... |
ORPHA:261330 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short thorax, Narrow chest, Hypoplastic scapulae |
ORPHA:85166 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... |
ORPHA:289157 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Joint hypermobility, Postaxial polydactyly |
OMIM:619185 |
Fg Syndrome Type 1 |
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Finger syndactyly, Sacral dimple, Broad toe, Progressive flexion contractures, Optic nerve hypopl... |
ORPHA:93932 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Deformed rib cag... |
OMIM:277440 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Urban-Rogers-Meyer Syndrome |
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Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
Marden-Walker Syndrome |
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Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Wide anterior fontanel, Abnormal ste... |
OMIM:248700 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Camp... |
ORPHA:2215 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Broad hallux, Delay... |
OMIM:305450 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Spastic Paraplegia 46, Autosomal Recessive |
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Kyphosis, Ankle clonus, Scoliosis, Limb muscle weakness, Lower limb muscle weakness |
OMIM:614409 |
Arthrogryposis, Distal, Type 4 |
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Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fing... |
OMIM:609128 |
Campomelic Dysplasia |
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Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Pelger-Huet Anomaly |
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Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... |
OMIM:169400 |
Vacterl Association With Hydrocephalus |
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Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
Congenital Myopathy 22B, Severe Fetal |
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Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Sclerosteosis 1 |
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Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi... |
OMIM:269500 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... |
ORPHA:85188 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Horner syndrome |
OMIM:141300 |
Alexander Disease |
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Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocephalus... |
ORPHA:58 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal bones, Cervical i... |
OMIM:617425 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Orofaciodigital Syndrome Type 10 |
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Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of carpal bones, Advanced tars... |
OMIM:215045 |
Hsd10 Disease |
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Abnormal social behavior, Optic atrophy, Ventriculomegaly |
ORPHA:391417 |
Fibular Hemimelia |
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Finger syndactyly, Toe syndactyly, Short femur, Abnormal morphology of ulna, Bowing of the legs, ... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Weill-Marchesani Syndrome 1 |
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Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad phalanges of the h... |
OMIM:277600 |
Mosaic Trisomy 8 |
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Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... |
ORPHA:96061 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Kyphosis, Macroglossia, Scoliosis |
ORPHA:79107 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossific... |
OMIM:611717 |
Schaaf-Yang Syndrome |
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Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio... |
OMIM:615547 |
Apert Syndrome |
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Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Hurler Syndrome |
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Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... |
OMIM:607014 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Hydrocephalus, Flexion co... |
ORPHA:505248 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Parkinsonism, Paralysis |
OMIM:105500 |
Lopes-Maciel-Rodan Syndrome |
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Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
4Q21 Microdeletion Syndrome |
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Toe syndactyly, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm, Ventriculome... |
ORPHA:238750 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia... |
OMIM:601559 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys... |
OMIM:269300 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Short foot, Inappropriate laughter, Impaired social interactions, Scoliosis |
ORPHA:3095 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... |
ORPHA:261318 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Congenital diaphragmatic hernia,... |
ORPHA:1647 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal metacarpa... |
ORPHA:3429 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... |
ORPHA:352447 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Primary Angiitis Of The Central Nervous System |
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Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Acromesomel... |
ORPHA:968 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
Czech Dysplasia |
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Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... |
OMIM:609162 |
Familial Expansile Osteolysis |
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Osteolysis, Thin bony cortex |
OMIM:174810 |
Image Syndrome |
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Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis |
ORPHA:1545 |
Mesomelic Dysplasia, Savarirayan Type |
|
Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia |
OMIM:605274 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... |
OMIM:271665 |
Helsmoortel-Van Der Aa Syndrome |
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Joint laxity, Prominent fingertip pads, Sandal gap, Facial palsy, Broad hallux, Hyperlordosis, Pe... |
OMIM:615873 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Abnormality of the musculature of the lower limbs, Hip dislocation, Scoliosis |
ORPHA:464282 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly, Scoliosis |
OMIM:616723 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Thickened cortex of long bones, Delayed skeletal maturation, Abnormal rib... |
ORPHA:488434 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Short foot, Clinodactyly of the 5th finger, Abnormal social behavior, Brachydactyly |
ORPHA:444002 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... |
ORPHA:1439 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Deviation of ... |
ORPHA:1597 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bones, Cervical spi... |
OMIM:615349 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Delayed cranial suture closure... |
OMIM:151050 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Pla... |
ORPHA:79255 |
Opsismodysplasia |
|
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Increased variabili... |
OMIM:617022 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy,... |
ORPHA:87 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Kagami-Ogata Syndrome |
|
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, T... |
OMIM:608149 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:816 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... |
OMIM:230500 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Conge... |
OMIM:200980 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical t... |
ORPHA:309282 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Sandal gap, Optic nerve hypoplasia, Facial palsy, Camptodactyly of finge... |
ORPHA:261349 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Paraspinal muscle hypertrophy |
ORPHA:3198 |
Rhizomelic Chondrodysplasia Punctata |
|
Limb undergrowth, Abnormal metaphysis morphology, Rhizomelia |
ORPHA:177 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb, Ventriculomegaly |
OMIM:615433 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Slender fing... |
ORPHA:251028 |
Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly |
OMIM:618641 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs |
OMIM:618265 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina... |
OMIM:609008 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... |
ORPHA:3003 |
Stiff-Person Syndrome |
|
Proximal limb muscle stiffness, Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Axial mus... |
OMIM:184850 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic... |
OMIM:304150 |
Jaberi-Elahi Syndrome |
|
Joint hypermobility, Joint stiffness, Kyphosis, Optic atrophy, Pectus carinatum, Scoliosis, Dandy... |
OMIM:617988 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Diastasis recti, Pectus excavatum, Large placenta, Flexi... |
ORPHA:254528 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Short metacarpal, Elbow contr... |
OMIM:617137 |
Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia |
ORPHA:2220 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Posterior rib fusion, Neonatal death, Butterfly vertebrae, Ventriculomegaly, Rig... |
OMIM:265380 |
Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Facial palsy, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus ... |
OMIM:300373 |
48,Xxxy Syndrome |
|
Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocation, Hip dislocation, Joint hyperfl... |
ORPHA:96263 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... |
ORPHA:96334 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma... |
ORPHA:1830 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Short neck, Coxa valga, Large placenta, Limitation of joint mobi... |
ORPHA:254519 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch... |
OMIM:119600 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ... |
ORPHA:536532 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Overlapping toe, Ta... |
OMIM:618371 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Kyphosis... |
ORPHA:85293 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly... |
ORPHA:521426 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Scoliosi... |
OMIM:211530 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, Kyphosis, Contracture of the dis... |
OMIM:607015 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Flynn-Aird Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short neck, Bowing of the legs, Hydrocephalus, Short thorax, Anencephaly, S... |
OMIM:269860 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... |
ORPHA:93357 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis, Reduced bone mineral density |
OMIM:166220 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology |
ORPHA:166277 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Ataxia, Cranial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:2710 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Coxoauricular Syndrome |
|
Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, 2-3 toe syndactyly, Sco... |
OMIM:617061 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... |
ORPHA:1842 |
Pachydermoperiostosis |
|
Cerebral palsy, Osteoporosis, Osteolysis, Scoliosis, Abnormal cortical bone morphology |
ORPHA:2796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... |
OMIM:260400 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Kyphosis, Long fingers, Optic atrophy, Pectus carinatu... |
OMIM:617527 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:581 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Kyphosis, Hydrocephalus, Flexion contracture, Split hand, Macroglossia, ... |
OMIM:309900 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum |
ORPHA:1035 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Hall-Riggs Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:2107 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Scoliosis, Ve... |
OMIM:617011 |
Saul-Wilson Syndrome |
|
Pectus excavatum, Hypoplasia of the odontoid process, Pectus carinatum, Irregular vertebral endpl... |
OMIM:618150 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Bell-sh... |
ORPHA:1393 |
Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Narrow chest, Thin bony cortex |
OMIM:612731 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Lateral ventricle dil... |
OMIM:619745 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... |
OMIM:600920 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... |
OMIM:300554 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Aplastic clavicle, Short thorax, Platyspondyly, Short ribs, Narro... |
ORPHA:50945 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:241800 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Re... |
OMIM:618188 |
Sillence Syndrome |
|
Back pain, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral disc degeneration |
ORPHA:3168 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... |
ORPHA:254346 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Hyperlordosis |
ORPHA:3253 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, R... |
OMIM:208150 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc... |
ORPHA:1005 |
Caffey Disease |
|
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Hydrocephalus, Flexion contracture, Abnormal sternum ... |
ORPHA:314588 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical... |
ORPHA:1780 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Ventriculomegaly, Congenital hip dislocation, Congenital diaphragmati... |
OMIM:609029 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Pectus excavatum, Kyphosis, Hydrocephalus, Flexion contracture, Osteolysis, Abno... |
ORPHA:3042 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Kyp... |
OMIM:619951 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Torticollis, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Crani... |
ORPHA:536467 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Aplastic clavicle, Kyphosis, Cryptorchidism, Cranial hyperostosis... |
ORPHA:2658 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif... |
OMIM:252940 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... |
OMIM:601812 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Optic ... |
ORPHA:193 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Bowing of the legs, Hypoplastic ili... |
ORPHA:1855 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... |
ORPHA:1969 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Ulnar dev... |
OMIM:211750 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hip dysplasia, Limb-girdle muscular dystrophy, Scoliosis, Hyperlordosis |
OMIM:615356 |
Radio-Renal Syndrome |
|
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... |
ORPHA:3015 |
Aspartylglucosaminuria |
|
Pectus carinatum, Scoliosis, Anterior beaking of lumbar vertebrae, Macroorchidism, Beaking of ver... |
ORPHA:93 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hip dysplasia, Cutaneous finger sy... |
OMIM:616078 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Optic atrophy |
ORPHA:324737 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck |
ORPHA:3191 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, Neonatal death, Joint hypermobility |
OMIM:300219 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Tibial bowing, Limb undergrowth, Rocker bottom foot, Micrognathia |
ORPHA:453510 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodactyly, Fl... |
ORPHA:88628 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
11 pairs of ribs, Osteopenia, Craniosynostosis, Short neck, Osteoporosis, Pectus carinatum, Platy... |
OMIM:245600 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Pectus excavatum, Kyphosis, Scoliosi... |
OMIM:617602 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... |
OMIM:616914 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Diastasis recti, Craniosynostosis, Limited wrist moveme... |
ORPHA:576 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Platyspondyly, Scoliosis |
OMIM:612394 |
Williams Syndrome |
|
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:904 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Facial hypotonia, Rocker bottom foot, Proximal placement of thumb, Short neck, Pec... |
OMIM:613458 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Vocal cord paralysis, Myoclonus, Scoliosis |
ORPHA:500144 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Aganglionic megacolon |
ORPHA:261222 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Kyphosis, Wide... |
ORPHA:401973 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Wide anterior fontanel, Abno... |
ORPHA:798 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Lowry-Wood Syndrome |
|
Platyspondyly |
ORPHA:1824 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Delayed skeletal maturation, Hip dislocation, Short neck |
OMIM:608776 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Platyspondyly, Sclerosis of skull base, Broad ribs, Thin bony cortex |
OMIM:619727 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Pectus excavat... |
ORPHA:2461 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Partial absenc... |
ORPHA:955 |
Achondrogenesis, Type Ib |
|
Short ribs, Micromelia |
OMIM:600972 |
Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Abnormal rib morphology, Skeletal muscle hypertrophy, Platyspondy... |
ORPHA:2588 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Optic atrophy, Scoliosis, Joint stiffness |
ORPHA:702 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Pe... |
ORPHA:464738 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:300009 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Hydrocephalus, Postaxial hand polydactyly, Scoliosis, ... |
ORPHA:2075 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... |
OMIM:306955 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Genu recurvatum, Kyphosis, Scoliosis, Abnormality of muscle size |
ORPHA:364028 |
Achondrogenesis |
|
Micromelia, Micrognathia |
ORPHA:932 |
Congenital Myopathy 15 |
|
Osteopenia, Vocal cord paralysis |
OMIM:620161 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Osteopetrosis |
OMIM:612301 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Short ribs, Micromelia |
ORPHA:93296 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost... |
ORPHA:2232 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Optic atrophy, Elbow flexion contracture, Genu valgum, Scoliosis, Fing... |
OMIM:618493 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Hydrocephalus, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis, D... |
ORPHA:500055 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, Ventriculomegaly |
OMIM:616449 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Flexion contrac... |
ORPHA:365 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Cranio-Osteoarthropathy |
|
Abnormal cortical bone morphology |
ORPHA:1525 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Hydrocephalus, Partia... |
OMIM:164210 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis |
OMIM:203700 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Kyphosis, Colpocephaly, Hip dysplasia, Scoli... |
ORPHA:261250 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis |
ORPHA:37553 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal hip bone morphology, Scoliosis, Hyperlordosis |
ORPHA:3353 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Proximal p... |
ORPHA:818 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Pectus carinatum, Vertebral seg... |
OMIM:312870 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63260 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... |
ORPHA:522077 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Osteoporosis, Scoliosis |
OMIM:615381 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth |
ORPHA:79243 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Pectus excavatum, Kyphosis, Unilateral radial aplasia, Partial absence of thumb, ... |
ORPHA:476126 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Optic atrophy, ... |
ORPHA:394 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial ... |
OMIM:225500 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Ganglion... |
ORPHA:653 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Joint hypermobility, Short neck, Pectus excavatum, Kyphosis, Prominent... |
OMIM:300966 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint ... |
ORPHA:83617 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Clubbing of fingers, Short ribs, Talipes equinovaru... |
ORPHA:1865 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Platyspondyly, Scoliosis |
OMIM:619269 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Flexion contracture, Multi... |
OMIM:619503 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... |
OMIM:617925 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis, Rad... |
OMIM:301040 |
Dyschondrosteosis-Nephritis Syndrome |
|
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia |
ORPHA:1765 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Optic atrophy, Hip dysplasia, Scoliosis, Clinodactyly of the 5t... |
OMIM:616975 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis |
OMIM:170390 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Kyphoscoliosis, Sagittal craniosynostosis, Cryptorchidism,... |
ORPHA:536471 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy, Brachydactyly |
OMIM:616368 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Kyphosis, Ankle clonus, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Narrow chest, Scoliosis |
OMIM:182210 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Wide anterior fontanel, Kypho... |
ORPHA:85199 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Optic atrophy, Abnormal r... |
ORPHA:991 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Postaxial hand polydactyl... |
ORPHA:3380 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Short neck, Hyperlordosis, Tapered finger, Long fingers, Scoliosis, Prominent fing... |
OMIM:619950 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Kyphoscoliosis, Osteoporosis, Thin ribs, Platyspondyly, Progressive congenital scoliosis |
OMIM:225400 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... |
ORPHA:404440 |
Rett Syndrome |
|
Short foot, Kyphosis, Scoliosis, Skeletal muscle atrophy |
OMIM:312750 |
Rift Valley Fever |
|
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short t... |
ORPHA:464311 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Infertility, Reduced bone mineral density |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Cryptorchidism,... |
ORPHA:221008 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Hydrocephalus, Abnormal tibia morphology, Genu v... |
ORPHA:363700 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Osteoglophonic Dysplasia |
|
Osteopenia, Hypoplastic scapulae, Craniosynostosis, Short neck, Pectus excavatum, Cryptorchidism,... |
OMIM:166250 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, L... |
ORPHA:558 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Advanced ossification o... |
OMIM:224400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture,... |
ORPHA:217085 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... |
ORPHA:261112 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination, Scoliosis |
ORPHA:99956 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ... |
OMIM:618529 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Paralysis, Rigidity, Bone cyst, Osteolysis, Tetraplegia, Hemiparesis, ... |
ORPHA:2396 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pe... |
ORPHA:464306 |
Branchiooculofacial Syndrome |
|
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Prea... |
OMIM:113620 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture,... |
ORPHA:217093 |
Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc... |
ORPHA:297 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Abnormal ... |
ORPHA:2879 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs |
OMIM:614857 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Decreased muscle mass, Kyphosis, Acromicria, Small hand, Osteoporosis, Ge... |
OMIM:176270 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Short distal phalanx of finger, Broad thumb, Brachydactyly |
ORPHA:1784 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia |
ORPHA:90322 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Sacral dimple, Osteoporosis, Scoliosis, Abnormal cortical bone morphology, Thickened ... |
ORPHA:3206 |
Megalocornea-Intellectual Disability Syndrome |
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Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ... |
ORPHA:2479 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Abnormality of the cervical spine |
ORPHA:221098 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Paralysis, Pectus excavatum, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Azoospermia, Hy... |
ORPHA:2072 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Clinodactyly of the 2nd finger, Clinod... |
ORPHA:73223 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... |
ORPHA:79139 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae |
OMIM:166200 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Multiple Osteochondromas |
|
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal morphology of ulna, Coxa va... |
ORPHA:321 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Skeletal muscle atrophy |
OMIM:219080 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Limb hypertonia |
OMIM:619909 |
Fucosidosis |
|
Kyphosis, Decreased muscle mass, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Abnormal sternum morphology, Scoliosis |
OMIM:177850 |
Glutamine Deficiency, Congenital |
|
Micromelia, Camptodactyly |
OMIM:610015 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micrognathia, 4-5 toe syndactyly, Humeroradial synostosis, 2-3 ... |
OMIM:260660 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Micro Syndrome |
|
Kyphosis, Optic atrophy, Scoliosis, Joint stiffness |
ORPHA:2510 |
Machado-Joseph Disease Type 3 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276244 |
Cowden Syndrome 5 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:615108 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Pectus excavatum, Kyphosis, Broad distal phalanx of the toes, Elbow ... |
OMIM:619194 |
Fryns Syndrome |
|
Dandy-Walker malformation, Aganglionic megacolon, Rocker bottom foot, Proximal placement of thumb... |
OMIM:229850 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Ataxia, Short neck, Advanced ossification of carpal bones, Irregular vertebral endplates, Platysp... |
OMIM:610442 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoa... |
ORPHA:828 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:619244 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Radial deviation of the hand, Short metacarpal, Proximal placement of thumb, M... |
OMIM:268305 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Bra... |
OMIM:602361 |
Cowden Syndrome 6 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:615109 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Delayed cranial suture closure, Hypopla... |
OMIM:278250 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormal... |
ORPHA:91347 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Charge Syndrome |
|
Brachydactyly, Facial palsy, Aqueductal stenosis, Abnormal tibia morphology, Optic atrophy, Abnor... |
ORPHA:138 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus exca... |
ORPHA:3063 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Horizontal inferior border of scapula, Platyspondyly, Anterior rib cupping |
OMIM:102700 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Paralysis |
ORPHA:803 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly, Thin ribs |
OMIM:617397 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Short neck, Small hand, Short foot, Lateral ventricle dilatation, Clinodactyly o... |
ORPHA:177907 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Schisis Association |
|
Micromelia |
ORPHA:63862 |
Dent Disease |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
ORPHA:1652 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Clinodactyly of the 5th finger, Limb undergrowth, Abnormal carpal morphology, Short middle phalan... |
ORPHA:319675 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydrocephalus, Abnormal rib morp... |
ORPHA:667 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Talipes equinovarus, Micromelia, Micrognathia |
OMIM:224410 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Macroglossia, Trach... |
ORPHA:444077 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Aspartylglucosaminuria |
|
Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of vertebr... |
OMIM:208400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Cryptorchidism |
ORPHA:221016 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly |
OMIM:614800 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Kyphosis, Myopathy, Skeletal muscle atrophy |
OMIM:615512 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Down-sloping shoulders, Kyphoscoliosis, ... |
OMIM:309800 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha... |
OMIM:616331 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Mgat2-Cdg |
|
Osteopenia, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... |
ORPHA:3404 |
Cowden Syndrome 1 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:158350 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased ... |
OMIM:211380 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Advanced... |
ORPHA:3144 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Overlapping fingers, Optic atrophy, Knee flexion contracture |
OMIM:619708 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Adducted thumb |
ORPHA:50810 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Pectus excavatum, Rickets, Reduced bone mineral density, Scoliosis, Thin bony cortex |
OMIM:613658 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Limb undergrowth, Short toe, Short phalanx of finger, Micrognathia |
OMIM:225410 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia |
ORPHA:1422 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... |
OMIM:135900 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly, Short ph... |
OMIM:616894 |
Poliomyelitis |
|
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis |
ORPHA:2912 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Impaired social interactions, Scoliosis |
OMIM:613454 |
Dextrocardia |
|
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphos... |
OMIM:216400 |
Marshall Syndrome |
|
Platyspondyly |
OMIM:154780 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Optic atrophy, Ankle clonus, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Delayed early-childhood social milestone development, Reduced bone minera... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Delayed early-childhood social milestone development, Reduced bone minera... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Delayed early-childhood social milestone development, Reduced bone minera... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Delayed early-childhood social milestone development, Reduced bone minera... |
ORPHA:881 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Craniosynostosis, Metatars... |
ORPHA:744 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Kyphosis, Flexion contracture, Osteopenia |
OMIM:212065 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Accelerated skeletal maturation |
OMIM:300942 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Mesomelia, Clinodactyly of the 5th finger, Metaphyseal irregulari... |
OMIM:618162 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... |
OMIM:263650 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydact... |
OMIM:613610 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly |
ORPHA:488632 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis, Accelerated skeletal maturation |
OMIM:203800 |
Geleophysic Dysplasia 3 |
|
Limb undergrowth, Short foot, Brachydactyly |
OMIM:617809 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Limb undergrowth, Talipes equinovarus |
OMIM:619124 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Joint hypermobility, Pectus excavatum, Kyphosis, Metata... |
OMIM:259050 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... |
ORPHA:2907 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Kyphosis, Cryptorchidism, Rickets, Platyspondyly, Scoliosis |
OMIM:309000 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Hydrocephalus, Long fingers, 2-3 toe synd... |
OMIM:300960 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
Distal Renal Tubular Acidosis |
|
Paralysis, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Infantile Systemic Hyalinosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Short palm |
ORPHA:2176 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphosis, Limitation of... |
OMIM:133540 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility |
OMIM:619718 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Coccidioidomycosis |
|
Osteomyelitis, Hydrocephalus, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality o... |
ORPHA:228123 |
Charge Syndrome |
|
Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Absent radius, Short thumb, Absent ... |
OMIM:214800 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Myocardial calcification, Stippled calcification of the sh... |
ORPHA:51608 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Clinodactyly of the 5th finger, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:2637 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... |
OMIM:619127 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Tapered finger, Pectus excavatum, Kyphosis, Abnormal toe morphology... |
ORPHA:268261 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp... |
OMIM:264090 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Bowing of the long bones, Bowed h... |
OMIM:210710 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, Hypoplasia of the radius, Hypoplastic radi... |
OMIM:122470 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Finger clinodactyly, Talip... |
ORPHA:99776 |
Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Macroglossia, Scoliosis, Brachydactyly |
ORPHA:201 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth |
OMIM:618005 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Kyphosis, Flexion contracture, Scoliosis, Abnormality... |
ORPHA:90324 |
Sotos Syndrome |
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Joint laxity, Sacrococcygeal teratoma, Hip contracture, Aganglionic megacolon, Ankle flexion cont... |
ORPHA:821 |
Desmosterolosis |
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Metatarsus adductus, Micromelia, Micrognathia |
ORPHA:35107 |
Atelis Syndrome 2 |
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Clinodactyly, Kyphosis, Sacral dimple |
OMIM:620185 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Kyphosis, Increased femoral anteversion, Scoliosis |
OMIM:619005 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Left ventricular noncompaction, Scoliosis,... |
OMIM:300967 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Joint laxity, Torticollis, Osteomyelitis, Kyphosis, Hydrocephalus, Abnormal curvature ... |
OMIM:619475 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy |
ORPHA:309256 |
Gitelman Syndrome |
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Ataxia, Paralysis |
OMIM:263800 |
Cockayne Syndrome |
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Optic disc pallor, Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Optic ... |
ORPHA:191 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy |
ORPHA:309263 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Ramon Syndrome |
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Juvenile rheumatoid arthritis, Optic disc pallor, Kyphosis, Scoliosis |
OMIM:266270 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs |
OMIM:616546 |
Kinsship Syndrome |
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Coxa valga, Micrognathia, Fibular hypoplasia, Polydactyly, Mesomelia, Dislocated radial head |
OMIM:619297 |
African Trypanosomiasis |
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Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Abnormality of the men... |
ORPHA:3385 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Pectus excavatum, Cranial nerve compression, Optic atrophy, Osteopetrosis, P... |
ORPHA:2785 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy, Orthostatic hypoten... |
ORPHA:309271 |
Raine Syndrome |
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Bowing of the long bones, Micromelia, Micrognathia, Long hallux, Brachydactyly |
OMIM:259775 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic clavicle, Abnorm... |
ORPHA:2636 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Delaye... |
ORPHA:2273 |
Robinow Syndrome, Autosomal Dominant 1 |
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Broad toe, Brachydactyly, Rhizomelia, Micrognathia, Small hand, Mesomelia, Broad thumb, Radial de... |
OMIM:180700 |
Slc39A8-Cdg |
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Limb undergrowth, Cutaneous syndactyly of toes |
ORPHA:468699 |
Ellis Van Creveld Syndrome |
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Micromelia, Capitate-hamate fusion, Genu valgum, Hand polydactyly, Foot polydactyly, Synostosis o... |
ORPHA:289 |
Viss Syndrome |
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Long toe, Joint laxity, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Joint hy... |
OMIM:619472 |
Fontaine Progeroid Syndrome |
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Craniosynostosis, Cryptorchidism, Platyspondyly, Scoliosis, Coronal craniosynostosis |
OMIM:612289 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Short neck, Shield chest, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Abnorma... |
ORPHA:99646 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Epiphyseal dysplasia, Abnormal social behavior, Short neck |
ORPHA:1675 |
Neurofibromatosis Type 1 |
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Recurrent fractures, Joint stiffness, Kyphosis, Hydrocephalus, Genu valgum, Slender long bone, Sc... |
ORPHA:636 |
Leukocyte Adhesion Deficiency Type Ii |
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Limb undergrowth, Overlapping toe |
ORPHA:99843 |
Neu-Laxova Syndrome |
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Large hands, Micromelia, Micrognathia |
ORPHA:2671 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Mesomelia, Micrognathia |
OMIM:613457 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal ... |
ORPHA:97685 |
Acromegaly |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Macroglossia, Join... |
ORPHA:963 |
Somatomammotropinoma |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Macroglossia, Join... |
ORPHA:314769 |
Autosomal Dominant Robinow Syndrome |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro... |
ORPHA:3107 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis |
OMIM:153400 |
Acrocephalopolydactylous Dysplasia |
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Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Smith-Lemli-Opitz Syndrome |
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Microretrognathia, Overlapping toe, Micromelia, Micrognathia, Metatarsus adductus, Short thumb, 2... |
OMIM:270400 |
Tyrosinemia, Type I |
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Hypophosphatemic rickets, Periodic paralysis |
OMIM:276700 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Gitelman Syndrome |
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Paralysis |
ORPHA:358 |
8Q24.3 Microdeletion Syndrome |
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Microretrognathia, Long toe, Short femur, Rocker bottom foot, Short hallux, Micromelia, Long fing... |
ORPHA:508488 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Abnormal morphology of ulna, Micromelia, Micrognathia, Proximal placement of thum... |
ORPHA:199 |
C Syndrome |
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Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo... |
ORPHA:1308 |
Pmm2-Cdg |
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Osteopenia, Ataxia, Abnormality of coordination, Kyphoscoliosis, Hypogonadotropic hypogonadism, O... |
ORPHA:79318 |
Pineoblastoma |
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Paralysis |
ORPHA:251909 |
Peters Plus Syndrome |
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Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Short foot, Shor... |
ORPHA:93271 |
Tuberous Sclerosis Complex |
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Abnormal social behavior, Noncommunicating hydrocephalus |
ORPHA:805 |
Niemann-Pick Disease Type C |
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Abnormal social behavior, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:646 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior |
ORPHA:314647 |
Alström Syndrome |
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Optic disc pallor, Thoracic scoliosis, Accelerated skeletal maturation, Kyphosis, Short toe, Lumb... |
ORPHA:64 |