Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... |
ORPHA:93304 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Abnormality of the elbow, Abnormal rib morphology, Pectus carin... |
ORPHA:3268 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... |
ORPHA:40 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate short-trunk short stature,... |
OMIM:609223 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Disproportionate short-trunk short stature, Hemivertebrae, Rib fu... |
OMIM:608681 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... |
ORPHA:1354 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Disproportionate short-trunk short stature, Platyspondyly... |
ORPHA:163665 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Disproportio... |
ORPHA:1801 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, In... |
OMIM:616583 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disproportionate short-... |
OMIM:259440 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... |
OMIM:259450 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals |
OMIM:277950 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Pectu... |
OMIM:255710 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... |
OMIM:613330 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... |
OMIM:113500 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs, Disproportionate short-limb short stature |
OMIM:273740 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Enlarged joints, ... |
OMIM:313420 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... |
OMIM:608940 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral ne... |
OMIM:618392 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... |
ORPHA:168549 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Short stature, Pectus carinatum |
OMIM:620007 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint dislocation, Hi... |
OMIM:618395 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Abnormal fibul... |
ORPHA:85198 |
Bethlem Myopathy 2 |
|
Kyphosis, Scapular winging, Hip dislocation, Scoliosis |
OMIM:616471 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... |
ORPHA:93351 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis |
ORPHA:276630 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Hip dislocation, Small hand, Short foot, Scoliosis |
OMIM:300434 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Congenital bilateral hip dislocation |
ORPHA:85288 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ... |
OMIM:252605 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short stature, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis |
OMIM:604919 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... |
ORPHA:474 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Short stature, Diaphyseal thickening |
ORPHA:1513 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:611225 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... |
ORPHA:1858 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... |
OMIM:614524 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus excavatu... |
ORPHA:2522 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
Juberg-Hayward Syndrome |
|
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... |
ORPHA:2319 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco... |
OMIM:184253 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Short stature, Scoliosis, Thin ribs |
OMIM:615220 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis |
OMIM:609384 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Ruvalcaba Syndrome |
|
Short palm, Short metacarpal, Short stature, Kyphosis, Limited elbow extension, Short metatarsal,... |
OMIM:180870 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Thoracopelvic Dysostosis |
|
Short stature, Short ribs |
OMIM:187770 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... |
ORPHA:93360 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis, Pectus carinatum |
ORPHA:1548 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly |
OMIM:618393 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Masa Syndrome |
|
Kyphosis, Adducted thumb, Short stature, Hyperlordosis |
OMIM:303350 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... |
ORPHA:3098 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality o... |
ORPHA:263463 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Coxa valga, Disproportionate short... |
OMIM:618363 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of th... |
ORPHA:1486 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... |
OMIM:130060 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Scoliosis |
OMIM:616756 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebra... |
OMIM:273750 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Knee flexion contra... |
OMIM:615290 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... |
OMIM:614326 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa... |
ORPHA:1988 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Dumbbell-shaped l... |
OMIM:269250 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Rhizomelia, Dumbbell-... |
OMIM:151210 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, ... |
ORPHA:582 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617404 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos... |
ORPHA:3082 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Narrow greater sciatic notch, Abnorm... |
ORPHA:93316 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pel... |
ORPHA:2097 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Kyphosis, Abnormal rib morphology, ... |
ORPHA:2050 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut... |
OMIM:234250 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Thoracic hypoplasia, Bowing of the legs, Hip joi... |
ORPHA:15 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis |
ORPHA:505652 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... |
OMIM:602557 |
Bruck Syndrome |
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Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Ptery... |
ORPHA:2771 |
Achondrogenesis Type 1B |
|
Severe short stature, Short neck, Disproportionate short stature, Abnormal rib morphology, Short ... |
ORPHA:93298 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth... |
ORPHA:2643 |
Osteogenesis Imperfecta, Type Iii |
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Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Disproportionate shor... |
OMIM:259420 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Bell-shaped thorax, Scoliosis, Clinodactyly |
ORPHA:178148 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Short stature, Hip dysplasia |
ORPHA:195 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Zimmermann-Laband Syndrome 3 |
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Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs... |
OMIM:618658 |
Ruvalcaba Syndrome |
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Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,... |
ORPHA:3121 |
Spondyloepiphyseal Dysplasia Congenita |
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Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... |
ORPHA:94068 |
Mucopolysaccharidosis, Type X |
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Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... |
OMIM:619698 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor... |
OMIM:613320 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Clinodactyly of the 5th finger, Kyphosis, Scoliosis |
ORPHA:3454 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... |
ORPHA:2484 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... |
OMIM:613686 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... |
ORPHA:2021 |
Cole-Carpenter Syndrome 2 |
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Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, Pectus excavatum, Th... |
OMIM:616294 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Scoliosis |
ORPHA:79107 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... |
ORPHA:93324 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... |
ORPHA:163966 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Abnormal rib morphology, Abnormality of the vertebral column, Short stature, Sprengel anomaly |
OMIM:601076 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... |
ORPHA:958 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia,... |
OMIM:607095 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Congenital Muscular Dystrophy, Ullrich Type |
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Long toe, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, Knee... |
ORPHA:75840 |
Three M Syndrome 2 |
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Scapular winging, Severe short stature, Lumbar hyperlordosis, Short stature, Hyperlordosis, Short... |
OMIM:612921 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Pectus excavatum, Kyphosis, Cervical ribs |
ORPHA:77300 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Phaver Syndrome |
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Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
White Forelock With Malformations |
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Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Mosaic Trisomy 14 |
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Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Short stature, B... |
OMIM:616229 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Arachnodactyly, Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Cooper-Jabs Syndrome |
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Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Pectus exc... |
ORPHA:536516 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... |
OMIM:611717 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk ... |
ORPHA:583 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Platyspondyly, Hip dysplasia, Dispr... |
ORPHA:2655 |
Congenital Pseudoarthrosis Of The Clavicle |
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Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Hypophosphatasia |
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Bowing of the long bones, Short stature, Craniosynostosis, Abnormal rib morphology, Narrow chest,... |
ORPHA:436 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... |
OMIM:253010 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Short neck, Short thorax, Short foot, Narrow chest,... |
ORPHA:93299 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis |
ORPHA:1875 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Short stature, Scoliosis |
OMIM:618124 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum |
ORPHA:319199 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis |
OMIM:300676 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... |
ORPHA:2916 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Scoliosis, Intrauterine growth retardation, Abn... |
ORPHA:48431 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnorma... |
ORPHA:3409 |
Dysosteosclerosis |
|
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Delayed closure of the ... |
OMIM:224300 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Joint Laxity, Short Stature, And Myopia |
|
Short stature, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum |
OMIM:617662 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... |
OMIM:602875 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Scoliosis |
OMIM:617768 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla... |
OMIM:244460 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Scoliosis |
OMIM:611890 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scap... |
OMIM:200600 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Congeni... |
OMIM:114300 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute... |
ORPHA:2145 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Severe short stature, Kyphosis, Abnormality of the elbow, Hip d... |
ORPHA:1005 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Short stature, Limited wrist extension, Pectus excavatum, Kyphosis, Absent phalan... |
OMIM:108145 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft ve... |
OMIM:620076 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scolio... |
OMIM:181405 |
Ck Syndrome |
|
Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis |
OMIM:300831 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum |
OMIM:614898 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave verte... |
OMIM:610968 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Spatulate ribs... |
OMIM:253220 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of ... |
ORPHA:73230 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina... |
OMIM:609008 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla... |
OMIM:613091 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scolios... |
OMIM:230500 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morpho... |
ORPHA:3068 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Scoliosis, Flexion contracture of finger, Adducted thumb |
OMIM:618484 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, De... |
OMIM:609128 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:312150 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short stature |
ORPHA:2772 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly |
ORPHA:3085 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Short thorax, Platyspondyly, Narrow chest, Abnormal metaphysis morpholog... |
ORPHA:93274 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Osteoarthri... |
OMIM:108300 |
Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Mcdonough Syndrome |
|
Pectus excavatum, Kyphosis, Short stature, Scoliosis |
ORPHA:2471 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Wormian bones, Tapered finger, Abnor... |
ORPHA:1452 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Wormian bones, Hype... |
ORPHA:1798 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Intrauterine growth retardation |
OMIM:618237 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, V... |
OMIM:617952 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Short neck, Kyphosis, Small hand, Growth delay, Short foot, Scoliosis, Short palm... |
ORPHA:238750 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus ex... |
OMIM:617425 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... |
ORPHA:137834 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Ky... |
ORPHA:1860 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:255200 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Short stature, Rhizomelia, Bowing of the... |
OMIM:613848 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scol... |
OMIM:269300 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Intrauterine growth retardation |
OMIM:615834 |
Sialidosis Type 2 |
|
Kyphosis, Short thorax, Short stature, Pectus carinatum |
ORPHA:87876 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch... |
OMIM:119600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:253290 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... |
ORPHA:1834 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, S... |
ORPHA:2115 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplasia, Scoliosis, Hypoplastic ... |
ORPHA:61 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... |
OMIM:617895 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Pectus... |
ORPHA:3219 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... |
ORPHA:2911 |
Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Vertebral segmentation defect, Hip dysplasia, Pol... |
ORPHA:531151 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... |
OMIM:143095 |
Typical Nemaline Myopathy |
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Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Hip dislocation, Genu val... |
ORPHA:171436 |
Xylt1-Cdg |
|
Joint dislocation, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, S... |
ORPHA:370930 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest... |
ORPHA:1394 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Short stature, Coxa valga, Kyphosis, Short metatarsal, Scoliosis, Cubitus valgus |
OMIM:248800 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis,... |
ORPHA:1969 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... |
ORPHA:89936 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Greenberg Dysplasia |
|
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... |
OMIM:215140 |
Renpenning Syndrome |
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Severe short stature, Abnormal thumb morphology, Pectus excavatum, Abnormal rib morphology, Growt... |
ORPHA:3242 |
Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Scoliosis, C... |
OMIM:615547 |
Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation,... |
OMIM:314580 |
Multiple Pterygium Syndrome, Escobar Variant |
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Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... |
OMIM:265000 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing ... |
OMIM:166220 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Severe short stature, Scoliosis |
ORPHA:2617 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Kyphosis, Joint contracture of the 5th finger, Scoliosis, Joint contracture of the... |
ORPHA:352490 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
Radio-Renal Syndrome |
|
Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ... |
ORPHA:3015 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Thin ribs, Slender long bone, Brachydactyly |
OMIM:618265 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scol... |
OMIM:300280 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... |
ORPHA:3003 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:816 |
Shwachman-Diamond Syndrome 1 |
|
Short stature, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement o... |
OMIM:260400 |
Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... |
ORPHA:175 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Hyperlor... |
ORPHA:568 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Kyphosis, Hip dislocation, Scoliosis, ... |
OMIM:618291 |
15Q24 Microdeletion Syndrome |
|
Short stature, Proximal placement of thumb, Postnatal growth retardation, Kyphosis, Abnormal thum... |
ORPHA:94065 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Hip dislocation, Narrow... |
OMIM:301041 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... |
OMIM:271510 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Short stature, Sandal gap, Camptodactyly of finger, Short neck, Down-sloping shou... |
ORPHA:85293 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Brachydactyly, Persistent open anterior fontanelle, Rhizomelia, Wor... |
ORPHA:763 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Sialidosis Type 1 |
|
Short stature, Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, S... |
ORPHA:812 |
3C Syndrome |
|
Finger syndactyly, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Missing rib... |
ORPHA:7 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short stature, Sandal gap, Kyphosis, Small hand, Short foot, Delayed puberty, Brachydactyly |
OMIM:300354 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... |
OMIM:304150 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Mild short stature, Short 4t... |
OMIM:169400 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pectus excavatum, Kyphosis, Sacral dimple |
OMIM:618272 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Growth delay, Short foot, Scoliosis |
ORPHA:3095 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Radioulnar synostosis, Abnorm... |
OMIM:248700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Na... |
ORPHA:96061 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Short stature, Fem... |
OMIM:610682 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... |
ORPHA:98855 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Broad ribs, Short long bone,... |
OMIM:617022 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Short stature, Irregular, rachitic-like metaphys... |
ORPHA:289157 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis... |
OMIM:253200 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... |
ORPHA:98863 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor... |
OMIM:208500 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Pectus carinatum,... |
OMIM:618476 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cuta... |
OMIM:224690 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi... |
OMIM:109400 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... |
ORPHA:2215 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Abnormality of ... |
ORPHA:93473 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... |
ORPHA:1300 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Elbow fl... |
ORPHA:98853 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Pectus carinatum |
ORPHA:500180 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Postnatal growth retardation, Pectus excavatum, Coat hanger sign of ri... |
ORPHA:254528 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Short stature, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing... |
OMIM:259770 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis, Increased laxi... |
OMIM:254090 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retard... |
ORPHA:263508 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Spinal canal stenosis, Scoliosi... |
OMIM:277600 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Short stature, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compressi... |
OMIM:616507 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short f... |
OMIM:618443 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Cerebrocostomandibular Syndrome |
|
Short stature, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of the 5th finger, I... |
ORPHA:1393 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly |
OMIM:602361 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation... |
ORPHA:293843 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short stature, Short neck, Rib fusion, Vertebral arch anomaly, Cuta... |
OMIM:148050 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum |
ORPHA:3134 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Contracture of the distal interphalangeal joint... |
OMIM:607015 |
Cohen Syndrome |
|
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, K... |
ORPHA:193 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:3042 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Fused cervical vertebrae, Broad ribs, Joint swelling, Flaring of rib cage |
OMIM:612852 |
Noonan Syndrome 14 |
|
Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Cubitu... |
OMIM:619745 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, Brachydactyly |
ORPHA:2075 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... |
OMIM:616482 |
Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Short stature, Pseudoepiphyses of the metacarpals, Tapered finge... |
ORPHA:192 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Hurler Syndrome |
|
Short stature, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hyp... |
OMIM:607014 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:609541 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Postnatal growth retardation, Sho... |
OMIM:263750 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, 2-3 toe syndactyly, Sco... |
OMIM:617061 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... |
ORPHA:254346 |
Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... |
OMIM:312830 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Abnormali... |
ORPHA:198 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Hemivertebrae, Rib f... |
OMIM:206900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... |
ORPHA:800 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Pectus excavatum, Kyphosi... |
OMIM:620351 |
Rett Syndrome |
|
Short foot, Kyphosis, Short stature, Scoliosis |
OMIM:312750 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Short stature, Delayed closure of the ... |
OMIM:303600 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Joint dislocation, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, ... |
ORPHA:536532 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Postnatal growth retardation, Short neck, Bell-shaped thorax, Coat ha... |
ORPHA:254519 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti... |
ORPHA:1855 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Arachnodactyly, Sandal gap, Pectus excavatum, Kyphosis, Scoliosis, Camptodactyly, ... |
OMIM:617602 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retar... |
OMIM:617190 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... |
OMIM:619951 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Sho... |
ORPHA:249 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Delayed crani... |
OMIM:249420 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal form of ... |
ORPHA:2789 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral fe... |
OMIM:239000 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Ver... |
ORPHA:96169 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi... |
ORPHA:3404 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus... |
ORPHA:261349 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Sh... |
OMIM:134780 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... |
OMIM:616914 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hy... |
OMIM:618493 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum |
ORPHA:2479 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:261190 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Abnormal sternum morphology, Scoliosis, Camptodactyly... |
ORPHA:314588 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... |
ORPHA:666 |
Gm1 Gangliosidosis |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral b... |
ORPHA:354 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... |
OMIM:304120 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... |
ORPHA:96334 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Kyphosis, Short thorax, Coron... |
ORPHA:85199 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Pectus excavatum, ... |
ORPHA:476126 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Pectus excavatum, Kyphos... |
OMIM:610443 |
Myhre Syndrome |
|
Brachydactyly, Severe short stature, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis m... |
ORPHA:2588 |
Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2047 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... |
ORPHA:404440 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Kyphosis, Coxa valga, Hemivertebrae... |
OMIM:301040 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Vater/Vacterl Association |
|
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... |
OMIM:192350 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Pectus excavatum, Kyphosis, Scoliosis, Wormian bones... |
OMIM:130720 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Hyperlordo... |
ORPHA:1328 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... |
ORPHA:261318 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... |
OMIM:269150 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:702 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:77301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Pectus excavatum, Prominent pr... |
OMIM:300966 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... |
ORPHA:95699 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Genu recurvatum, Short stature, Scoliosis |
ORPHA:364028 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone... |
OMIM:617088 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... |
OMIM:617925 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Short stature, Increased intervertebral space, Broad ischia, Diaphyseal dy... |
OMIM:619727 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:609029 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wrist movement... |
ORPHA:576 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Scoliosis, Pectus carinatum |
OMIM:616449 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Pe... |
ORPHA:464738 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Short s... |
OMIM:194190 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Severe short stature, Aplastic clavicle, Kyphosis, Abnormal metacarpal morphol... |
ORPHA:2658 |
Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Pec... |
ORPHA:2461 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Short neck, Kyphosis, Split hand, Mild short stature |
OMIM:309900 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Pectus excavatum, Elbow ... |
OMIM:619194 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
Prader-Willi Syndrome |
|
Short palm, Syndactyly, Short stature, Kyphosis, Acromicria, Small hand, Genu valgum, Short foot,... |
OMIM:176270 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... |
OMIM:618050 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Abnormal sternum morphology, Scoliosis |
OMIM:177850 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly... |
ORPHA:521426 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis, Pectus carinatum |
OMIM:617988 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Short neck, Kyphosis, Scoliosis, Camptodactyly, Clinoda... |
OMIM:616894 |
Micro Syndrome |
|
Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation |
ORPHA:2510 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:90322 |
Gaucher Disease Type 1 |
|
Kyphosis, Osteoarthritis, Growth delay, Delayed puberty, Vertebral compression fracture |
ORPHA:77259 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Narrow chest, Scoliosis |
OMIM:182210 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... |
ORPHA:2554 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Hip dysplasia, Proximal placement of thumb, Scoliosis |
ORPHA:261250 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Bowing of the long bones, Sho... |
ORPHA:955 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Birth length le... |
ORPHA:464311 |
Classic Homocystinuria |
|
Arachnodactyly, Pectus excavatum, Kyphosis, Pectus carinatum, Genu valgum, Scoliosis |
ORPHA:394 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Pectus carinatum |
OMIM:617527 |
Cowden Syndrome 5 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:615108 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Short stature, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, ... |
ORPHA:818 |
Stickler Syndrome |
|
Joint dislocation, Short stature, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, ... |
ORPHA:828 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:211530 |
Zttk Syndrome |
|
Short stature, Craniosynostosis, Kyphosis, Hemivertebrae, Rib fusion, Small hand, Growth delay, S... |
OMIM:617140 |
Cowden Syndrome 6 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:615109 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Short stature, Arachnodactyly, Pectus excavatum, Kyphosis, Polydac... |
ORPHA:464306 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Enlarged thorax, Short 5th metacarpal, Hypermobility of toe joints, Short stature, Sh... |
ORPHA:99413 |
Turner Syndrome |
|
Short neck, Enlarged thorax, Short 5th metacarpal, Hypermobility of toe joints, Short stature, Sh... |
ORPHA:881 |
Mosaic Monosomy X |
|
Short neck, Enlarged thorax, Short 5th metacarpal, Hypermobility of toe joints, Short stature, Sh... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Enlarged thorax, Short 5th metacarpal, Hypermobility of toe joints, Short stature, Sh... |
ORPHA:99226 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Pectus excavatum, Kyphosis, Slender toe,... |
ORPHA:3063 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Mend Syndrome |
|
Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe synd... |
OMIM:300960 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Mend Syndrome |
|
Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe synd... |
ORPHA:401973 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Grow... |
ORPHA:3380 |
Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Mgat2-Cdg |
|
Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Kyphosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:398069 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Increased femoral anteversion, Scoliosis, Intrauterine growth retardation |
OMIM:619005 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Growth delay, Triphalangeal thumb, Delayed puberty, Contracture o... |
ORPHA:2232 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... |
OMIM:309000 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Kyphosis, Short stature, Scoliosis |
OMIM:266270 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip ... |
ORPHA:2907 |
Wrinkly Skin Syndrome |
|
Scapular winging, Congenital hip dislocation, Short stature, Delayed closure of the anterior font... |
OMIM:278250 |
Cowden Syndrome 1 |
|
Pectus excavatum, Kyphosis, Scoliosis |
OMIM:158350 |
Alstrom Syndrome |
|
Kyphosis, Short stature, Scoliosis |
OMIM:203800 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Asymmetry of the thorax, Metopic ... |
ORPHA:457359 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Craniosynostos... |
ORPHA:363958 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Growth delay, Abnormal epiph... |
ORPHA:667 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Short stature, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal sten... |
ORPHA:1606 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Overlapping fingers, Knee flexion contracture |
OMIM:619708 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Short stature, Sandal gap, Aplasia/Hypoplasia of the patella, Postnatal growth ret... |
OMIM:135900 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Arachnodactyly, Scoliosis, Hyperlordosis |
OMIM:617011 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... |
ORPHA:581 |
Atelis Syndrome 2 |
|
Clinodactyly, Kyphosis, Sacral dimple |
OMIM:620185 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Short stature, Tapered finger, Abnormal toe morphology, Kyphosis, P... |
ORPHA:268261 |
Marfan Syndrome |
|
Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Pectus excavat... |
ORPHA:558 |
Charge Syndrome |
|
Short stature, Postnatal growth retardation, Abnormal tibia morphology, Hemivertebrae, Abnormal r... |
ORPHA:138 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Short stature |
ORPHA:991 |
Cockayne Syndrome A |
|
Hip contracture, Short stature, Kyphosis, Ivory epiphyses of the phalanges of the hand, Severe po... |
OMIM:216400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Arthritis, Platys... |
ORPHA:534 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Kyphosis, Ivory epiphyses of the phalanges of... |
OMIM:133540 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Cowden Syndrome |
|
Short stature, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:201 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,... |
ORPHA:857 |
Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Neurofibromatosis Type 1 |
|
Short stature, Kyphosis, Genu valgum, Slender long bone, Scoliosis, Delayed puberty, Abnormal hip... |
ORPHA:636 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalanx of the thu... |
OMIM:300967 |
Aspartylglucosaminuria |
|
Short stature, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Sp... |
OMIM:208400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Growth ... |
ORPHA:2273 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... |
ORPHA:2908 |
Congenital Disorder Of Glycosylation, Type Ia |
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Kyphosis |
OMIM:212065 |
Primrose Syndrome |
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Hip contracture, Short stature, Metatarsus adductus, Kyphosis, Pectus excavatum, Genu valgum, Kne... |
OMIM:259050 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Kyphosis, Hi... |
ORPHA:744 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis |
ORPHA:171629 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Postnatal growth retardation, Absent radius, Shor... |
OMIM:214800 |
Triosephosphate Isomerase Deficiency |
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Kyphosis |
OMIM:615512 |
Acromegaly |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, Co... |
ORPHA:963 |
Somatomammotropinoma |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, Co... |
ORPHA:314769 |
Cockayne Syndrome |
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Severe short stature, Postnatal growth retardation, Kyphosis, Growth delay, Abnormal epiphysis mo... |
ORPHA:191 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis |
OMIM:153400 |
17Q11 Microdeletion Syndrome |
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Short stature, Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Abnormality of the vertebral c... |
ORPHA:97685 |
Cockayne Syndrome Type 3 |
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Kyphosis, Mild postnatal growth retardation, Scoliosis |
ORPHA:90324 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Kyphosis, Abnormal curvature of the vertebral column, Genu valgum, Scoliosis, Delayed ... |
OMIM:619475 |
Williams Syndrome |
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Hallux valgus, Sacral dimple, Short stature, Down-sloping shoulders, Hyperlordosis, Pectus excava... |
ORPHA:904 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Branchiooculofacial Syndrome |
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Proximal placement of thumb, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck, S... |
OMIM:113620 |
Viss Syndrome |
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Long toe, Recurrent joint dislocation, Short stature, Arachnodactyly, Rocker bottom foot, Pectus ... |
OMIM:619472 |
Sotos Syndrome |
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Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostosis, Pectus exc... |
ORPHA:821 |
Alström Syndrome |
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Thoracic scoliosis, Short stature, Kyphosis, Short toe, Lumbar scoliosis, Short finger, Delayed m... |
ORPHA:64 |