Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... |
OMIM:611702 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... |
ORPHA:1801 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... |
ORPHA:64755 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... |
ORPHA:2790 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... |
ORPHA:1354 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... |
ORPHA:2635 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax |
ORPHA:93302 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... |
OMIM:610017 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosi... |
ORPHA:40 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Short thorax, Vertebral fusion, Short long bone, Sacral dimple |
OMIM:618845 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... |
OMIM:608406 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... |
OMIM:618469 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... |
OMIM:113000 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... |
ORPHA:168549 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... |
OMIM:602196 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Hyper... |
ORPHA:1803 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, Pectus excav... |
OMIM:263540 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... |
OMIM:615633 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... |
OMIM:265000 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... |
OMIM:255710 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... |
ORPHA:1394 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abse... |
ORPHA:392 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... |
ORPHA:628 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... |
ORPHA:93267 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... |
ORPHA:2319 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Dumbbell-shaped long b... |
ORPHA:485 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... |
ORPHA:2097 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Thin ribs, Short ribs, Femoral bowing, Osteopenia |
OMIM:618188 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Bowing... |
OMIM:619131 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... |
OMIM:312150 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Long clavicles... |
OMIM:171480 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Abnormal thorax morphology, Clinodac... |
ORPHA:1445 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Pectus carinatum, Thora... |
ORPHA:313892 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... |
OMIM:253290 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... |
OMIM:614524 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones,... |
OMIM:166210 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... |
OMIM:300232 |
Kbg Syndrome |
|
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Th... |
ORPHA:2332 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... |
ORPHA:582 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs |
OMIM:618155 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Kbg Syndrome |
|
Delayed skeletal maturation, Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2... |
OMIM:148050 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Verheij Syndrome |
|
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... |
OMIM:615583 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... |
OMIM:300863 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... |
ORPHA:2990 |
Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... |
OMIM:252605 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Joint hypermobility, Thin ribs, Femoral bowing, Biconcave vertebral bodies, ... |
OMIM:617952 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... |
OMIM:305620 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Joint hypermobility, Multiple rib fractures, Osteopenia, Decre... |
OMIM:616229 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... |
ORPHA:2616 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... |
OMIM:134780 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... |
OMIM:151200 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Kyphosis, Thin ribs, Decreased calvarial ossification, Biconc... |
OMIM:259420 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly |
ORPHA:261197 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... |
ORPHA:2484 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... |
ORPHA:2916 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... |
ORPHA:2021 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... |
OMIM:228520 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax, Abnormal enchondral ... |
ORPHA:93298 |
Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... |
ORPHA:2876 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... |
OMIM:213980 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, J... |
ORPHA:2050 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
Spondylocarpotarsal Synostosis Syndrome |
|
Scapular winging, Short neck, Pectus carinatum, Block vertebrae, Delayed skeletal maturation, Ver... |
OMIM:272460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:600081 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
Dysosteosclerosis |
|
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... |
OMIM:224300 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... |
OMIM:612852 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentatio... |
ORPHA:915 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Thin ribs, Femoral retroversion, Fem... |
OMIM:610915 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short foot, Short thorax, ... |
ORPHA:93299 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone |
OMIM:613819 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... |
ORPHA:3035 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... |
OMIM:184460 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation |
ORPHA:2643 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... |
ORPHA:263508 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... |
OMIM:200600 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Reduced bone mineral density, Camptodactyly of finger, Scoliosis, A... |
ORPHA:1488 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... |
OMIM:618019 |
Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bowing of the long ... |
ORPHA:436 |
Baller-Gerold Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... |
OMIM:218600 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... |
ORPHA:1507 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... |
OMIM:304050 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... |
ORPHA:93324 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... |
ORPHA:3027 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia, Scoliosis |
ORPHA:530983 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Knee flexion contracture,... |
ORPHA:1145 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... |
ORPHA:2347 |
Gorlin Syndrome |
|
Arachnodactyly, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral wedging, Vertebral fusion |
ORPHA:377 |
Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Decreased hip abduction, Pectus excavatum, Lumbar hyperlordosis, Abnormal rib ca... |
OMIM:114300 |
Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... |
OMIM:109400 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, ... |
ORPHA:3258 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... |
OMIM:616549 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Osteopenia, Short neck, Scoliosis... |
OMIM:611209 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... |
ORPHA:85184 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... |
OMIM:130720 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis |
OMIM:618265 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process |
OMIM:609654 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... |
OMIM:244460 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... |
ORPHA:958 |
Wolf-Hirschhorn Syndrome |
|
Rib fusion, Kyphosis, Split hand, Arachnodactyly, Abnormality of the vertebral column, Scoliosis,... |
ORPHA:280 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Slender long bon... |
OMIM:612921 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Cone-shaped epiphysis... |
ORPHA:93317 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Limitation of joint mobility, Short metacarpal, Short femur, Undula... |
OMIM:211350 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... |
OMIM:613848 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... |
OMIM:203500 |
Pallister-Hall Syndrome |
|
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Hemivertebrae, Syndactyly, Po... |
OMIM:146510 |
Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Unossified sacrum, Shor... |
ORPHA:3003 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple |
ORPHA:544488 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Joint hypermobility, Cone-shaped epiphysis, Brachydactyly, Scolios... |
OMIM:157800 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... |
OMIM:616294 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Kyphosis, Short neck, Genu valgum, Broad ribs, Ovoid verte... |
ORPHA:583 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... |
OMIM:619636 |
Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... |
ORPHA:2167 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Cleidocranial Dysplasia |
|
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... |
ORPHA:1452 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac... |
OMIM:617895 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... |
ORPHA:3068 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... |
ORPHA:1120 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Cantú Syndrome |
|
Narrow chest, Short distal phalanx of finger, Accelerated skeletal maturation, Broad hallux phala... |
ORPHA:1517 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... |
ORPHA:2911 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... |
OMIM:245190 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... |
ORPHA:79345 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly |
ORPHA:2145 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... |
ORPHA:90652 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short femur, Short ribs,... |
OMIM:616897 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:241530 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Preaxial hand polydactyly |
OMIM:601389 |
Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... |
ORPHA:1724 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... |
OMIM:251230 |
Craniometadiaphyseal Dysplasia |
|
Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormian bones, Genu varum, Gen... |
OMIM:269300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... |
OMIM:271640 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... |
OMIM:271665 |
Robinow Syndrome |
|
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... |
ORPHA:97360 |
Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... |
ORPHA:83 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... |
ORPHA:73230 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... |
ORPHA:2769 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... |
OMIM:240500 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... |
OMIM:617241 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... |
OMIM:613091 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... |
OMIM:619227 |
Cartilage-Hair Hypoplasia |
|
Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abn... |
ORPHA:175 |
Wolf-Hirschhorn Syndrome |
|
Delayed skeletal maturation, Rib fusion, Preaxial foot polydactyly, Abnormal sternal ossification... |
OMIM:194190 |
Xylt1-Cdg |
|
Short clavicles, Joint dislocation, Accelerated skeletal maturation, Flared metaphysis, Short fem... |
ORPHA:370930 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:1834 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Ovoid thoracolumbar... |
OMIM:252930 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... |
OMIM:610682 |
Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib... |
ORPHA:3242 |
Zttk Syndrome |
|
Rib fusion, Kyphosis, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... |
OMIM:617140 |
Opsismodysplasia |
|
Narrow chest, Short palm, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Sh... |
OMIM:258480 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... |
OMIM:304150 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Prominent sternum, Asymmetry... |
OMIM:250250 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... |
ORPHA:1318 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... |
OMIM:225500 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib cage morphology, Down-sloping shou... |
OMIM:227330 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging |
OMIM:619122 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Arachnodactyly, Scoliosis, Hip disloca... |
ORPHA:96169 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Hypoplastic pelvis, Cubitus valgus, B... |
OMIM:114620 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Broad ribs, St... |
OMIM:617022 |
Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of fin... |
ORPHA:96061 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciatic notch, Metaphyseal ... |
OMIM:260400 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... |
OMIM:617796 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... |
ORPHA:1505 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bod... |
OMIM:230500 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Short femoral neck, Wormian bones, Tapered finger, Fused cervical vertebrae, Fla... |
OMIM:617159 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... |
OMIM:600920 |
Acrorenal-Mandibular Syndrome |
|
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplasia of the radiu... |
OMIM:200980 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... |
OMIM:224690 |
1P36 Deletion Syndrome |
|
Bifid ribs, Rib fusion, Joint stiffness, Clinodactyly of the 5th finger, Kyphosis, Spinal canal s... |
ORPHA:1606 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Bro... |
ORPHA:2519 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:3015 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... |
ORPHA:508498 |
Mucopolysaccharidosis, Type Vi |
|
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Anterior we... |
OMIM:253200 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... |
OMIM:300853 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Joint hypermobility |
ORPHA:456328 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ab... |
ORPHA:52 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split hand, Finger synd... |
ORPHA:1300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... |
OMIM:308205 |
Trisomy 13 |
|
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:3378 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... |
OMIM:607323 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Irregular, rachiti... |
ORPHA:289157 |
Koolen-De Vries Syndrome |
|
Kyphosis, Pectus excavatum, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominen... |
OMIM:610443 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... |
ORPHA:959 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Increased circulating IgE level |
ORPHA:277 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... |
OMIM:276820 |
Myhre Syndrome |
|
Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of joint mobility, Co... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... |
OMIM:263520 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Adducted thumb, Thin ribs, Abnormal thorax morphology, Arthrogryposis multip... |
ORPHA:171430 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Fused cervical vertebra... |
OMIM:609053 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:601859 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... |
ORPHA:488434 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... |
OMIM:182212 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... |
ORPHA:500150 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... |
ORPHA:800 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... |
OMIM:601559 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Abnormal morphology of ... |
ORPHA:249 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:93473 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Humeroradial synostosis, Finger... |
OMIM:101200 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Abnormal bone ossification, Thin ribs, Arachnodactyly, Osteopenia, Thin metatar... |
ORPHA:2463 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion cont... |
ORPHA:254528 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Long fingers, Bell-shaped thorax,... |
OMIM:608149 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... |
ORPHA:1647 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Sco... |
ORPHA:2215 |
Pallister-Hall Syndrome |
|
Polydactyly affecting the 3rd finger, Rib fusion, Overlapping toe, Radial bowing, Bilateral posta... |
ORPHA:672 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... |
OMIM:269500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, 11 pairs of ribs... |
OMIM:607872 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abnormally ossifi... |
ORPHA:3301 |
Gracile Bone Dysplasia |
|
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Decreased skull ossification |
OMIM:602361 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Biconcave vertebra... |
ORPHA:666 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Finger syndactyly, Abnormal rib morphology, Aplasia/Hypoplasia of ... |
ORPHA:887 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Pectu... |
OMIM:114290 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:619774 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Short toe, Pectus excavatum, Clinodactyly of the 5th finger, Short... |
ORPHA:373 |
Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Epiphyseal dysplasia, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral ... |
OMIM:252940 |
Trisomy 1Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Preaxial hand pol... |
ORPHA:261344 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... |
ORPHA:268882 |
Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone m... |
ORPHA:1163 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Progressive sclerosis of skull base, Hyperextensibility of the f... |
OMIM:151050 |
Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Thin ribs, Flexion contracture, Wide cranial sutures, Scoliosis, Limited elbow m... |
OMIM:614008 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Delayed skeletal maturation, Horizontal ribs, Bell-shaped thorax |
OMIM:614857 |
Weill-Marchesani Syndrome 1 |
|
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Broad phalanges ... |
OMIM:277600 |
Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Finger cli... |
OMIM:617137 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Short neck, Abnormality of the verte... |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bell-shaped thorax, Hypopl... |
OMIM:616300 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Clinodac... |
ORPHA:96334 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Joint hypermobility |
OMIM:300219 |
Duane Retraction Syndrome |
|
Hypoplasia of the radius, Abnormal vertebral segmentation and fusion, Absent radius, Short neck, ... |
ORPHA:233 |
Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Bowing of the legs, Short toe, Short ribs, Bowing of the arm, Brachydactyly, Short ... |
OMIM:269860 |
Myhre Syndrome |
|
Joint stiffness, Large iliac wing, Abnormality of the pubic bone, Brachydactyly, Platyspondyly, A... |
ORPHA:2588 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... |
OMIM:117650 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... |
OMIM:266910 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Butterfly vertebrae, Posterior rib fusion |
OMIM:265380 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Short neck, Bell-shaped t... |
ORPHA:254519 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Abnormality of B ce... |
OMIM:600802 |
Apert Syndrome |
|
Vertebral segmentation defect, Broad thumb, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia o... |
ORPHA:87 |
Weill-Marchesani Syndrome 2 |
|
Broad metacarpals, Delayed skeletal maturation, Spinal canal stenosis, Joint stiffness, Lumbar hy... |
OMIM:608328 |
Osteopathia Striata With Cranial Sclerosis |
|
Sclerosis of skull base, Pectus excavatum, Clinodactyly of the 5th finger, Joint contracture of t... |
OMIM:300373 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Thin ribs, Long clavicles, Arachnodactyly, Contracture of the distal interphalan... |
ORPHA:83617 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... |
OMIM:269150 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Br... |
OMIM:619727 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... |
ORPHA:3404 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Joint dislocation, Thin ribs, Arachnodactyly, Osteopenia, Congenital hip dislocat... |
OMIM:225400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:603909 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Joint stiffness, Avascular necrosis, Pectus excavatum, Cortical thickening of lon... |
ORPHA:309282 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shaped epiphysis, Brachyda... |
OMIM:617088 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:572 |
Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... |
ORPHA:2554 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation |
ORPHA:1666 |
Hallermann-Streiff Syndrome |
|
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Metaphyseal widening, ... |
OMIM:234100 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Osteopetrosis, Reduced bone mineral density,... |
ORPHA:667 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Mucopolysaccharidosis Type 3 |
|
Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Reduced bone mineral density,... |
ORPHA:581 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia |
OMIM:616368 |
Vater/Vacterl Association |
|
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... |
OMIM:192350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad metacarpals, Tapered finger, Limited elbow extension, Hyperlordosis, Broad long bone diaphy... |
OMIM:301066 |
Monosomy 9P |
|
Short neck, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphology, Postaxial ha... |
ORPHA:261112 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... |
ORPHA:2907 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Joint stiffness, Pectus excavatum, Thin ribs, Flexion contracture, De... |
OMIM:619127 |
Trisomy 18 |
|
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Abnormal rib morpholo... |
ORPHA:3380 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... |
OMIM:613179 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Split hand, Short neck, Brachydactyly, Scoliosis, Abnormal form of ... |
ORPHA:818 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow ankylosis, Thin ribs, Camptodactyly of finger, Short neck, Slender long bone, Arthrogryposi... |
OMIM:208150 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:600903 |
Cranioectodermal Dysplasia 2 |
|
Narrow chest, Pectus excavatum, Craniosynostosis, Short ribs, Short neck, Brachydactyly, Polydact... |
OMIM:613610 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function |
ORPHA:1830 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Femur fracture, Multiple rib fractures |
OMIM:612301 |
Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Abnormal clavicle morphology, Kyp... |
ORPHA:798 |
Vici Syndrome |
|
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... |
OMIM:242840 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Brach... |
ORPHA:444077 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Joint stiffness, Kyphosis, Recurrent fractures, Platyspondyly, Osteomalacia, Scol... |
ORPHA:534 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum, Brachydactyly, Shortening of all phalanges of ... |
OMIM:211380 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Shor... |
ORPHA:2908 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Thin rib... |
OMIM:229850 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hemivertebrae, Abnormal rib morphology, Hypoplasia of the ulna, B... |
OMIM:118450 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... |
ORPHA:217085 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... |
OMIM:618213 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... |
ORPHA:217093 |
Restrictive Dermopathy |
|
Multiple joint contractures, Widely patent fontanelles and sutures, Thin ribs, Aplasia/Hypoplasia... |
ORPHA:1662 |
Coccidioidomycosis |
|
Osteomyelitis, Abnormality of the vertebral column, Arthritis, Abnormal long bone morphology, Abn... |
ORPHA:228123 |
Townes-Brocks Syndrome |
|
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... |
ORPHA:857 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
Charge Syndrome |
|
Clinodactyly of the 5th finger, Hemivertebrae, Brachydactyly, Scoliosis, Abnormality of tibia mor... |
ORPHA:138 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Heterotaxy, Visceral, 1, X-Linked |
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Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Short long bone |
OMIM:306955 |
Pagod Syndrome |
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Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:991 |
Craniofacial Microsomia |
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Partial duplication of thumb phalanx, Hemivertebrae, Scoliosis, Cervical ribs, Genu valgum, Verte... |
OMIM:164210 |
Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion |
ORPHA:83471 |
Wiedemann-Rautenstrauch Syndrome |
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Narrow chest, Widely patent fontanelles and sutures, Thin ribs, Short femur, Flexion contracture,... |
OMIM:264090 |
Osteopetrosis With Renal Tubular Acidosis |
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Osteopetrosis, Recurrent fractures, Pectus excavatum, Prominent floating ribs |
ORPHA:2785 |
Charge Syndrome |
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Absent tibia, Hand polydactyly, Hemivertebrae, Down-sloping shoulders, Scoliosis, Short thumb, Ab... |
OMIM:214800 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function |
ORPHA:567 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Impaired T cell function |
OMIM:188400 |
Auriculocondylar Syndrome 1 |
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Ankylosis |
OMIM:602483 |
Auriculocondylar Syndrome |
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ORPHA:137888 |