| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Rib fusion, Restrictive ventilatory defect, Short neck, Verteb... |
OMIM:608681 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Block ver... |
OMIM:277300 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... |
OMIM:609223 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Respiratory failure, Flar... |
OMIM:156530 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... |
OMIM:613686 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... |
OMIM:609052 |
| Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Ovoid verteb... |
ORPHA:63446 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... |
ORPHA:1797 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Narrow pelvis bone, Knee flexion contracture, Narrow chest, Scapular winging, Scoliosis, Lumbar h... |
OMIM:602484 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... |
OMIM:122600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Short ribs, Platyspondyly, Vertebral hypoplasia, Delayed ep... |
OMIM:602557 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Pectus excavatum, Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distr... |
OMIM:614399 |
| Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle clonus... |
OMIM:600561 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... |
ORPHA:3268 |
| Poland Syndrome |
|
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... |
OMIM:173800 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... |
ORPHA:93304 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee fl... |
OMIM:313420 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Distal arthrogryposis, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow ches... |
OMIM:208081 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs,... |
OMIM:608728 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Optic atrophy, Thoracic hypoplasia, Anterior rib cuppi... |
OMIM:602271 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... |
OMIM:187601 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Pectus carinatum, Capitate-hamate fusion, Short me... |
OMIM:271650 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Flat acetabular roof, Death in infancy, Increased intervertebral space, Resp... |
OMIM:256050 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coronal cleft vertebrae, Irregular verteb... |
OMIM:618363 |
| Becker Nevus Syndrome |
|
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs... |
ORPHA:64755 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Anterior rib cupping, Metaphyseal dappling, Pectus carinatum, Delayed pubic bo... |
OMIM:184250 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... |
OMIM:609616 |
| Myosclerosis, Autosomal Recessive |
|
Facial palsy, Spinal rigidity, Reduced forced vital capacity, Thoracolumbar scoliosis, Lumbar hyp... |
OMIM:255600 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Pectus carinatum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovo... |
OMIM:184255 |
| Thoracomelic Dysplasia |
|
Diaphyseal thickening, Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of t... |
ORPHA:1803 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Flared, irregular rib ends, Platyspondyly, Short palm |
ORPHA:168555 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Sco... |
OMIM:617087 |
| Anauxetic Dysplasia 2 |
|
Shield chest, Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubi... |
OMIM:617396 |
| Nemaline Myopathy 9 |
|
Narrow chest, Scoliosis, Respiratory insufficiency |
OMIM:615731 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... |
ORPHA:93352 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
| Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
| Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormal rib morphology, ... |
ORPHA:1988 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
| Kbg Syndrome |
|
Vertebral fusion, Radial deviation of finger, Vertebral arch anomaly, Cervical ribs, Thoracic kyp... |
OMIM:148050 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... |
OMIM:611702 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... |
ORPHA:1354 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Respiratory insufficiency, Rib segmentation abnormalitie... |
ORPHA:2311 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Neonatal respiratory distress, Short ribs, Cup... |
ORPHA:168549 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, Hyperlordosis, Short... |
OMIM:300718 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Facial pa... |
ORPHA:2790 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Spinal rigidity, Hyperlordosis, Abnormality on pulmonary fu... |
ORPHA:97244 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Arthralgia of the hi... |
OMIM:609324 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal sacrum morpholog... |
ORPHA:2345 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limited elbow extension, Enlarged join... |
ORPHA:156728 |
| Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Pectus carinatum, Irregular vertebral endplates, Kyphoscoliosis, Avascular ... |
OMIM:184100 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Platyspondyly,... |
ORPHA:163665 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Flattened femoral head, Abnormal intervertebral disk morphol... |
ORPHA:99642 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... |
OMIM:313400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Hyperlordosis, Back pain |
OMIM:618129 |
| Hypochondroplasia |
|
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... |
OMIM:146000 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Increased intervertebral space, Lumbar platyspondyly, Beaking of v... |
OMIM:618961 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... |
OMIM:618728 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scapular winging, Hip dysplasia, Hyperlordosis, Knee flexion contracture |
OMIM:615290 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... |
OMIM:617719 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Respiratory insufficiency, Spinal rigidity, Narrow chest, Hyperlordosis |
ORPHA:157973 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... |
OMIM:603546 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Abnormality of epiphysis morphology, Lower limb undergrowth, Hyp... |
ORPHA:2310 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Shield ch... |
ORPHA:93314 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Scoliosis, Hyperlordosis |
OMIM:616228 |
| Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspondyly, Wormian bones, Kyphosis, Be... |
OMIM:259440 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Coxa valga, Hypoplastic ilia |
OMIM:616583 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis, Reduced vital capacity |
OMIM:617760 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Pulmonary arterial hypertension, Abnormal ... |
OMIM:608406 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Pectus carinatum, Abnormal vertebral morphology, Beaking of vertebral bodies, Abnormality of the ... |
ORPHA:93359 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Wormian bones, Wide ... |
ORPHA:85184 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis, Reduced vital capacity |
OMIM:607088 |
| Three M Syndrome 1 |
|
Pectus excavatum, Neonatal respiratory distress, Hypoplastic pelvis, Short thorax, Short ribs, Jo... |
OMIM:273750 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Scoliosis, Respiratory insufficiency, Hyperlordosis |
OMIM:617404 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Enlarged joints, Coxa... |
OMIM:184252 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Abnormal thorax morphology, Genu valg... |
OMIM:265900 |
| Myopathy, Congenital, With Tremor |
|
Scapular winging, Spinal rigidity, Scoliosis, Lumbar hyperlordosis |
OMIM:618524 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
2-3 toe syndactyly, Cubitus valgus, Facial palsy, Clinodactyly, Radial deviation of finger, Limit... |
OMIM:610313 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... |
OMIM:187600 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... |
OMIM:618395 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Respiratory insufficiency due to muscle weakness, Scoliosis, Hyper... |
OMIM:611067 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae, Abnormal rib ... |
ORPHA:2522 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle weak... |
OMIM:611890 |
| Congenital Bowing Of Long Bones |
|
Bowing of the long bones, Hyperlordosis |
ORPHA:2292 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Lumbar hyperlordosis |
OMIM:253320 |
| Scheuermann Disease |
|
Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
| Cartilage-Hair Hypoplasia |
|
Flaring of lower rib cage, Femoral bowing, Aganglionic megacolon, Metaphyseal dysplasia, Metaphys... |
OMIM:250250 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
| Myasthenic Syndrome, Congenital, 8 |
|
Narrow chest, Facial palsy, Respiratory insufficiency |
OMIM:615120 |
| Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Coxa valga, Cervical subluxation, Metaphyseal widening, ... |
OMIM:253000 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... |
ORPHA:239 |
| Familial Anetoderma |
|
Abnormality of tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... |
ORPHA:93351 |
| Achondroplasia |
|
Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular distance, Bow... |
OMIM:100800 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormality of epiphysis morphology, Osteoarthritis, Short thorax, Platyspondyly |
ORPHA:93283 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Respiratory d... |
ORPHA:2759 |
| Mucolipidosis Iii Gamma |
|
Flat capital femoral epiphysis, Pectus carinatum, Kyphosis, Genu valgum, Hyperlordosis, Abnormal ... |
OMIM:252605 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... |
OMIM:608940 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Congenital hip dislocation, Kyphosis, Overlappi... |
OMIM:618291 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... |
OMIM:604864 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Missin... |
ORPHA:66637 |
| Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
| Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
| Kyphomelic Dysplasia |
|
Flat acetabular roof, Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abno... |
ORPHA:1801 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis, Respiratory insufficiency |
OMIM:619042 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Kyphosis, Hyperlordosis, Scoliosis, Elbow flexion contracture |
OMIM:600175 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu varum, Flat capital femoral epiphysis, Platyspondyly, Genu valgum |
OMIM:608361 |
| Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Genu varum, Hypoplastic scapulae, Beaking of vertebral bodies, Hypoplastic a... |
OMIM:607326 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Coxa valga, Cervical subluxation, Metaphyseal widening, ... |
OMIM:253010 |
| Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Neonatal respiratory distress, Genu varum, Short metatarsal, Short 1s... |
OMIM:251450 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... |
OMIM:617974 |
| Dyggve-Melchior-Clausen Disease |
|
Shield chest, Genu varum, Short metatarsal, Prominent calcaneus, Brachydactyly, Iliac crest serra... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... |
OMIM:602111 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Congenital finger flexion contractures, Wrist flexion contracture, Spi... |
ORPHA:267 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... |
OMIM:304950 |
| Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
| Dysspondyloenchondromatosis |
|
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Abnormality of ulnar metaphysis... |
ORPHA:85198 |
| Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Facial palsy, Aspiration, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Abnorma... |
ORPHA:2511 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Achilles tendon contracture, Facial palsy, Spinal rigidity |
OMIM:604801 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Metaphyseal widening, Platyspondyly, Short ribs, Bell-shaped thorax, Hypopla... |
OMIM:614524 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... |
ORPHA:166011 |
| Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Short toe, Platyspondyly, Flared metaphysis,... |
OMIM:607095 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Platyspondyly, Narro... |
ORPHA:1426 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Short ilia... |
ORPHA:93316 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hypoplastic inferior ilia, Hyperlordosis, Large iliac wing... |
ORPHA:577 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... |
OMIM:187760 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Broad femoral neck, ... |
OMIM:609325 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hip dysplasia, Hyperlordosis |
ORPHA:363454 |
| 3M Syndrome |
|
Horizontal ribs, Hypoplastic pelvis, Thin ribs, Abnormality of the elbow, Rocker bottom foot, Sho... |
ORPHA:2616 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Scoliosis, Respiratory insufficiency, Hyperlord... |
OMIM:603034 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Metatarsus adductus, Stridor, Respiratory insufficiency, Facial palsy, Small hand, Clinodactyly, ... |
OMIM:181405 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Small epiphyses, Optic disc pallor, Anterior rib cupping, Thin ribs, Flared iliac wing, Metaphyse... |
OMIM:300232 |
| Acromesomelic Dysplasia 1 |
|
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Beaking of vertebral... |
OMIM:602875 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... |
OMIM:184253 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Pectus excavatum, Hyperlordosis |
OMIM:611588 |
| Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Short ribs, Narrow chest, Severe platyspondyly, Disc-like vertebr... |
OMIM:151210 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Scoliosis, Respiratory insufficiency |
ORPHA:640 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long ... |
ORPHA:582 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... |
OMIM:157800 |
| Brachyolmia Type 3 |
|
Proximal femoral metaphyseal irregularity, Platyspondyly, Clinodactyly, Kyphosis, Radial deviatio... |
OMIM:113500 |
| Odontochondrodysplasia |
|
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Platyspondyly, Abnormality of ... |
ORPHA:166272 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
| Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Facial palsy, Kyphosis, Hyperlordosis, Scapular... |
OMIM:255200 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... |
ORPHA:90117 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Lumbar hyperlordosis |
ORPHA:280333 |
| Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormality of epiphysis morphology, Abnormal clavicle morphology, Bowing of the long bones, Plat... |
ORPHA:93267 |
| Odontochondrodysplasia 1 |
|
Death in infancy, Genu varum, Genu recurvatum, Short phalanx of finger, Flat acetabular roof, Sho... |
OMIM:184260 |
| Dystonia With Ringbinden |
|
Hyperlordosis |
OMIM:224550 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
| Achondroplasia |
|
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Restrict... |
ORPHA:15 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Intervertebral space narrowing, Platyspondyly, Herniati... |
OMIM:601216 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Respiratory insufficiency, Vertebral fusion, Cone-shaped epiphysis, Hypoplast... |
OMIM:139210 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Pectus carinatum, Limited elbow movement, Delayed pubic bone ossification, Platyspondyly, Atlanto... |
OMIM:183900 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Respiratory insufficiency, Back pain, Spinal rigidity, Scapular winging, Short neck |
OMIM:300696 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... |
ORPHA:1394 |
| Bruck Syndrome 1 |
|
Ankle flexion contracture, Vertebral wedging, Pectus carinatum, Platyspondyly, Knee flexion contr... |
OMIM:259450 |
| Nemaline Myopathy 3 |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial palsy, Spinal... |
OMIM:161800 |
| Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Flattened femoral head, Epiphyseal dysplasia, Platyspondyly, Hypoplasia of the capital femoral ep... |
OMIM:184000 |
| Pelvis-Shoulder Dysplasia |
|
Short clavicles, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Back p... |
OMIM:169550 |
| Myopathy, Scapulohumeroperoneal |
|
Scapular winging, Facial palsy, Hyperlordosis, Scoliosis |
OMIM:616852 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Scoliosis, Platyspondyly, Phalangeal dislocation |
ORPHA:85174 |
| Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Respiratory insufficiency, Platy... |
OMIM:166210 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Exertional dyspnea, Hyperlordosis, Obstructive sleep apnea |
ORPHA:352470 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Pectus excavatum, Scoliosis, Respiratory insufficiency |
OMIM:609284 |
| Masa Syndrome |
|
Adducted thumb, Hyperlordosis, Kyphosis |
OMIM:303350 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Facial palsy, Flexion contracture |
OMIM:615348 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Decreased cervical spine mobility, Spinal deformities, Facial palsy, H... |
ORPHA:370968 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Hammertoe, Decreased distal sensor... |
OMIM:606071 |
| Typical Nemaline Myopathy |
|
Pectus excavatum, Genu varum, Respiratory insufficiency, Facial diplegia, Facial palsy, Kyphosis,... |
ORPHA:171436 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Abnormal respiratory system physiology, Dysplasia of the femoral head, Li... |
ORPHA:94068 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Optic nerve hypoplasia, Missing ribs, Verte... |
OMIM:206900 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Irregular vertebral endplates, Lower limb undergrowth, Kyphoscoliosis, Platys... |
OMIM:612847 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Vertebral fusion, Hemivertebrae, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... |
OMIM:271520 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis, Elbow flexion contracture |
ORPHA:206546 |
| Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Flattened femoral head, Pectus carinatum, Short metatarsal, Metaphyseal irregul... |
OMIM:615222 |
| Myopathic Ehlers-Danlos Syndrome |
|
Ankle flexion contracture, Pectus excavatum, Shoulder flexion contracture, Adducted thumb, Congen... |
ORPHA:536516 |
| Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles... |
ORPHA:666 |
| Hyperekplexia 4 |
|
Respiratory failure, Kyphoscoliosis, Adducted thumb, Camptodactyly |
OMIM:618011 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Irregular epiphyses, Short finger, Metaphyseal widening, Platyspondyly, Barrel-shaped chest, Bron... |
OMIM:612813 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Genu varum, Irregular chondrocostal junctions, Metaphyseal dysplasia, Metaphyseal irregularity, S... |
OMIM:250420 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... |
OMIM:226980 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Monkey wrench femoral neck, Flat acetabular roof, Pectus excavatum, Neonatal respiratory distress... |
OMIM:618870 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Syndactyly, Dysplastic patella, Patellar aplasia, Neck pterygia, R... |
OMIM:265000 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Adducted thumb, Knee flexion contracture, Kyphosis, Slender finger, Hip dislocation, Spinal rigid... |
ORPHA:75840 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pectus excavatum, Bowing of the legs, Platyspondyly, Wormian bones, Coxa vara, Barrel-shaped ches... |
OMIM:619131 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Epiphyseal dysplasia, Slender finger,... |
ORPHA:93360 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... |
OMIM:269250 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Small epiphyses, Irregular vertebral endplates, Tapered finger, Metaphyseal irregularity, Platysp... |
OMIM:601668 |
| Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea, Spinal rigidity, Hyperlordosis, Abnormal... |
OMIM:256030 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Short ribs, Joint contracture of the hand, Camptodactyly, Short long bone, Anterior... |
OMIM:228520 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... |
ORPHA:970 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Platyspondyly, 11 pairs of... |
OMIM:300863 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multiple prenatal fractures, A... |
ORPHA:171433 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Optic atrophy, Platyspondyly |
OMIM:230600 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short thorax, Prominent calcaneus, Short 5th finger, Slender long bo... |
OMIM:612921 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... |
OMIM:156510 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Small hand, Platyspondyly, Short palm, Hypoplasia of the odonto... |
ORPHA:85172 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Flared iliac wing, Scoliosis, Anterior beaking o... |
OMIM:230650 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Short neck, Respiratory distress, Respiratory failure, Delayed cranial suture closure, Dyspnea |
ORPHA:1832 |
| Parastremmatic Dwarfism |
|
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Short ribs, Broad hallux, Bul... |
OMIM:304120 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... |
ORPHA:166024 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... |
OMIM:601376 |
| Diastrophic Dysplasia |
|
Respiratory insufficiency, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of ... |
ORPHA:628 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral fusion, Short thorax, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion... |
ORPHA:313892 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
| Three M Syndrome 3 |
|
Prominent calcaneus, Short thorax, Clinodactyly of the 5th finger, Hip dysplasia, Slender long bo... |
OMIM:614205 |
| Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Genu valgum, Deviation of finger, Coxa vara, Short metacar... |
ORPHA:2831 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Myasthenic Syndrome, Congenital, 19 |
|
Respiratory insufficiency, Pectus carinatum, Facial palsy, Spinal rigidity, Distal joint laxity |
OMIM:616720 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Neonatal respiratory distress, Genu varum, Epiphyseal dysplasia, Toe ... |
OMIM:615777 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial palsy, Congen... |
OMIM:255310 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Respiratory insufficiency, Progressive cervical vertebral spin... |
OMIM:135100 |
| Pseudodiastrophic Dysplasia |
|
Tongue-like lumbar vertebral deformities, Phalangeal dislocation, Platyspondyly, Camptodactyly, E... |
OMIM:264180 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Pectus carinatum, Craniosyno... |
OMIM:178110 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hammertoe, Decreased nerve conduction velocity, Limited knee flexion, Scapular winging, Dyspnea, ... |
ORPHA:435387 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Respiratory insufficiency, Radial club hand, Abnormal verteb... |
OMIM:276950 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Toe cl... |
ORPHA:457395 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Thin ribs, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cu... |
ORPHA:163966 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... |
ORPHA:266 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Facial palsy, Kyphosis, Hyperlordosis, Restrictive ventilatory defect, Scoliosis |
OMIM:606612 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shield chest, Cubitus valgus, Deviation of the 5th finger, Camptodactyly of finger, Narrow verteb... |
OMIM:143095 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Facial palsy, Abnormal rib morphology, Hyperlordosis, Clinodactyly of the 5th f... |
ORPHA:3068 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Facial palsy, Exertional dyspnea, Orthop... |
ORPHA:98913 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Genu varum, Short middle phalanx of finger, Irregu... |
OMIM:156500 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
2-3 toe syndactyly, Pectus carinatum, Short finger, Thoracic kyphosis, Clinodactyly of the 5th fi... |
OMIM:619467 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Short thorax, Abnormality of femoral epiphysis, Hyperlordo... |
ORPHA:3218 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Short thumb, Broad hallux, Osteochondritis Dissecans, Osteoarthritis, Lumbar ... |
OMIM:165800 |
| Alagille Syndrome |
|
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormal rib morphology, Butterfly v... |
ORPHA:52 |
| Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... |
ORPHA:1149 |
| Radio-Renal Syndrome |
|
Abnormality of the elbow, Abnormal form of the vertebral bodies, Hypoplasia of the radius, Short ... |
ORPHA:3015 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Kyphosis, Hip di... |
OMIM:314580 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Hip osteoarthritis, Platyspondyly, Flattened metatarsal heads, Osteoa... |
OMIM:271600 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Neonatal respiratory distress, Pterygium, Popliteal pterygium, Abnormal sternum... |
ORPHA:2990 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... |
OMIM:300106 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Tachypnea, Dysplastic sacrum, Pulmonary arterial hypertension, Short ribs, W... |
OMIM:613320 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Short ribs, Platyspondyly, Flare... |
ORPHA:2347 |
| Arthrogryposis, Distal, Type 3 |
|
Cutaneous finger syndactyly, Pectus excavatum, Kyphoscoliosis, Camptodactyly of toe, Congenital h... |
OMIM:114300 |
| Dysosteosclerosis |
|
Increased intervertebral space, Short ribs, Progressive bowing of long bones, Abnormal metaphysea... |
OMIM:224300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Facial palsy, Hip dislocation, Hyperlordosis, Scoliosis |
OMIM:613156 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis |
ORPHA:94095 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis, Enlarged epiphyses, Platyspondyly, Epiphyseal dysplasia |
OMIM:184840 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... |
ORPHA:2319 |
| Mucopolysaccharidosis, Type Vi |
|
Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal widening, Flared iliac wing, Hypoplas... |
OMIM:253200 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Delayed cranial suture ... |
OMIM:268310 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae |
OMIM:604919 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Facial palsy, Back pain, Scapular winging, Abnormality of pelvic girdle bone morphology, Lumbar h... |
OMIM:167320 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Pectus excavatum, Abnormal vertebral morphology, Kyphoscoliosis, Down-sloping shoulders, Hyperlor... |
OMIM:616817 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Spinal rigidity, Lumbar hyperlordosis |
OMIM:609308 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Craniosynostosis, Hand polydactyly, Scoliosis, Rib fusion |
ORPHA:261197 |
| Hypophosphatasia, Infantile |
|
Short lower limbs, Death in infancy, Bowing of the legs, Apnea, Unossified vertebral bodies, Shor... |
OMIM:241500 |
| Ck Syndrome |
|
Abnormal digit morphology, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
| Jeune Syndrome |
|
Toe syndactyly, Respiratory insufficiency, Cone-shaped epiphysis, Abnormal sternum morphology, Ab... |
ORPHA:474 |
| Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis |
OMIM:616471 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
| Jansen-De Vries Syndrome |
|
Short foot, Small hand, Hyperlordosis, Brachydactyly |
OMIM:617450 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Prominent interphalangeal joints, Large tarsal bones, Coronal cleft vertebrae, Beaking of vertebr... |
OMIM:215150 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Stillbirth, Short ribs,... |
OMIM:600972 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Kyphosis, Bell-shaped thorax, Flex... |
ORPHA:178148 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Abnormal respiratory system physiology, Barrel-shaped chest, Broad thumb, Short neck, Lumbar hype... |
ORPHA:171866 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Lumbar hyperlordosis |
OMIM:613818 |
| Pelvis-Shoulder Dysplasia |
|
Long clavicles, Absent proximal finger flexion creases, Prominent protruding coccyx, Abnormal for... |
ORPHA:2839 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... |
OMIM:617895 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Short ribs, Absent vertebr... |
OMIM:200610 |
| Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology |
ORPHA:1513 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abnormally ossifi... |
ORPHA:1427 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypoplastic scapulae, Lower thoracic interpediculate narrowness, Short long bone, Metaphyseal wid... |
OMIM:252500 |
| Osteogenesis Imperfecta, Type Xix |
|
Biconcave vertebral bodies, Pectus excavatum, Vertebral wedging, Pectus carinatum, Scoliosis |
OMIM:301014 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Small epiphyses, Cervical instability, Abnormal respiratory system physiology, Laryngotracheomala... |
ORPHA:93346 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Hypoplastic scapulae, Bowing of the long bones, Short thorax, Platyspondyly, Short fo... |
ORPHA:85166 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
| Osteogenesis Imperfecta, Type Xiii |
|
Pectus carinatum, Kyphoscoliosis, Wormian bones, Platyspondyly, Dislocated radial head, Arachnoda... |
OMIM:614856 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Respiratory insufficiency |
ORPHA:93941 |
| Saul-Wilson Syndrome |
|
Pectus excavatum, Pectus carinatum, Short metatarsal, Platyspondyly, Short metacarpal, Wide anter... |
OMIM:618150 |
| Autosomal Recessive Centronuclear Myopathy |
|
Respiratory insufficiency, Facial diplegia, Long fingers, Facial palsy, Hyperlordosis, Scapular w... |
ORPHA:169186 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Short... |
ORPHA:2655 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... |
OMIM:618167 |
| Anauxetic Dysplasia 3 |
|
Pectus excavatum, Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Gen... |
OMIM:618853 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Kyphosis, Sandal gap, Sacral dimple, Hyper... |
OMIM:615761 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Flexion contracture |
OMIM:616081 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Short ribs, Narrow chest, Respiratory failure, Thoracic dysplasia |
OMIM:273730 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Slender long bone |
ORPHA:262 |
| Fibrochondrogenesis |
|
Respiratory insufficiency, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short rib... |
ORPHA:2021 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Triphalangeal thumb, Phocomelia, Abnormal clavicle morphology, Aplasia/Hypoplas... |
ORPHA:392 |
| Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Platyspondyly, Delayed epiphyseal ossification, Wide anterior fontanel, Flared ... |
OMIM:601561 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Opsismodysplasia |
|
Flat acetabular roof, Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foo... |
OMIM:258480 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormality of the elbow, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... |
ORPHA:163649 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Respiratory insufficiency, Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platy... |
ORPHA:93317 |
| Myopathy, Centronuclear, 1 |
|
Facial palsy, Hyperlordosis |
OMIM:160150 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis |
OMIM:609384 |
| Aicardi Syndrome |
|
Optic atrophy, Butterfly vertebrae, Bifid ribs, Block vertebrae, Missing ribs, Small hand, Optic ... |
ORPHA:50 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ky... |
OMIM:271510 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Pectus excavatum, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Hip dislocation, Carpal sy... |
OMIM:615349 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Platyspondyly, Wide distal femoral metaphysis, Hip dysplasia, Sho... |
OMIM:619598 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Brachydactyly, Short toe, Anterior scalloping of vertebral bodies, Restrictive ve... |
OMIM:611717 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 5th metacarpal, Wormian bones, Platyspondyly, Thoracic kyphosis, Femoral bowing, Broad thum... |
OMIM:619638 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... |
ORPHA:175 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased bone mineral... |
ORPHA:2777 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
2-3 toe syndactyly, Scoliosis, Hyperlordosis, Clinodactyly |
OMIM:617352 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... |
OMIM:271665 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongated femoral neck, Hip disl... |
OMIM:619345 |
| Bone Dysplasia, Lethal, Holmgren Type |
|
Bell-shaped thorax, Narrow chest, Short ribs, Respiratory insufficiency |
OMIM:211120 |
| Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... |
OMIM:610967 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Optic atrophy, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... |
ORPHA:93315 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Kbg Syndrome |
|
Vertebral fusion, Cervical ribs, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scol... |
ORPHA:2332 |
| Aicardi Syndrome |
|
Optic atrophy, Butterfly vertebrae, Bifid ribs, Hemivertebrae, Block vertebrae, Missing ribs, Pro... |
OMIM:304050 |
| Distal Monosomy 17Q |
|
Optic atrophy, Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Abnormal form of the v... |
ORPHA:1597 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Abnormal rib ... |
ORPHA:2180 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Narrow iliac wing, Coronal c... |
OMIM:616294 |
| Melnick-Needles Syndrome |
|
Short clavicles, Respiratory insufficiency, Abnormality of the pubic bone, Bowing of the long bon... |
ORPHA:2484 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Fusion of midcervical facet joints, Cervical vertebral bodies with dec... |
OMIM:606842 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture |
OMIM:613869 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multiple prenatal f... |
ORPHA:171430 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... |
ORPHA:98863 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal rib morphology, Slender... |
ORPHA:1486 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Pectus carinatum, Kyphosis |
OMIM:618392 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed humeral hea... |
OMIM:601438 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Cone-shaped epiphysis, ... |
ORPHA:439822 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Butterfly vertebrae, Short long bone, Kyphoscoliosis, Pulmonary... |
ORPHA:263508 |
| Ck Syndrome |
|
Long fingers, Kyphoscoliosis, Lumbar hyperlordosis, Long toe |
ORPHA:251383 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Tibial bowing, Pectus carinatum, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossific... |
OMIM:245160 |
| Kniest Dysplasia |
|
Short thorax, Short long bone, Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia,... |
ORPHA:485 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Facial palsy, Knee flexion contracture, Scapular winging, Scoliosis, Lumbar hyperlordosis |
ORPHA:353327 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pseudoarthrosis, Pectus excavatum, Missing ribs, Short ribs, Scoliosis |
OMIM:618155 |
| Bruck Syndrome |
|
Respiratory insufficiency, Bowing of the long bones, Platyspondyly, Wormian bones, Kyphosis, Pter... |
ORPHA:2771 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal deformities, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, ... |
ORPHA:352447 |
| Kniest-Like Dysplasia, Lethal |
|
Dumbbell-shaped long bone, Coronal cleft vertebrae, Metaphyseal irregularity, Short ribs, Platysp... |
OMIM:245190 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis |
OMIM:214300 |
| Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis, Brachyd... |
OMIM:234250 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Bowing of the long bones, Chronic lung disease, Platyspondyly, Genu valgum, Vertebral ... |
OMIM:613848 |
| Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Barrel-shaped ch... |
OMIM:610915 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2234 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Shortening of all phalanges of fingers, Cone-shaped epiphysis, Pectus carinatum, Short metatarsal... |
ORPHA:77258 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Thickened ribs, Facial diplegia, Diaphyseal sclerosis, Papilledema, Cortical scler... |
OMIM:122860 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Nocturnal hypoventilation, Hyperlordosis, Restrictive ventilatory def... |
OMIM:607155 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... |
OMIM:615633 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Scoliosis, Hyperlordosis, Pneumonia |
OMIM:253700 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Short ribs, 11 pairs of ribs, Abnormal ossification involvi... |
OMIM:215140 |
| Stickler Syndrome, Type I |
|
Morbus Scheuermann, Pectus excavatum, Beaking of vertebral bodies, Platyspondyly, Arachnodactyly,... |
OMIM:108300 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Osteoarthritis, Abnormal intervertebral disk morphology, Pulmonary embolism |
ORPHA:1345 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Emery-Dreifuss Muscular Dystrophy |
|
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Pectus excavatum, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Sprengel... |
ORPHA:98853 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Anterior bowing of long bones, Shoulder flexion contracture, Coronal cleft vertebrae, Pectus cari... |
OMIM:255800 |
| Proximal Spinal Muscular Atrophy |
|
Restrictive ventilatory defect, Intercostal muscle weakness, Neonatal respiratory distress, Recur... |
ORPHA:70 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... |
OMIM:218600 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, Asymmetry of the thorax, Facial palsy, Abnormality of the metaphysis, Coarse me... |
ORPHA:2780 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thoracic hypoplasia, 2-3 toe syndactyly, Radial bowing, Vertebral wedging, Postaxial polydactyly,... |
OMIM:617866 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... |
OMIM:312150 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Respiratory failure, Scoliosis |
OMIM:310200 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Joint hypermobility, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of finger, Abnormal h... |
ORPHA:1323 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Pectus carinatum, Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Irregular f... |
OMIM:255710 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Spinal canal stenosis, Epiphyseal stippling, Short metatarsal, Dislocated radial h... |
OMIM:101800 |
| Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Short 5th finger, Thoracic kyphosis, Hyperlordosis, Scoliosis, Hypoplasia ... |
ORPHA:557003 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Metatarsus adductus, 2-3 toe syndactyly, Lumbar kyphosis in infancy, 4-5 toe syndactyly, Hyperext... |
ORPHA:3041 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... |
ORPHA:79345 |
| Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Pectus carinatum, Beaking of vertebral bodies, Abnormality of epiphys... |
ORPHA:2078 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... |
ORPHA:85167 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Hemivertebrae, Short humerus, Dysplastic sacrum, Hypoplastic acetabulae, Short fi... |
OMIM:134780 |
| Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Short thorax, Platyspondyly, Abnormality of the metaphysis, Kyphosis, ... |
ORPHA:93274 |
| Czech Dysplasia |
|
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... |
OMIM:609162 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Short ribs, Stillbirth, Hypop... |
OMIM:200600 |
| Dysostosis, Stanescu Type |
|
Pectus excavatum, Abnormality of epiphysis morphology, Bowing of the long bones, Wormian bones, A... |
ORPHA:1798 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Scoliosis, Hyperlordosis |
ORPHA:1387 |
| White Forelock With Malformations |
|
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th finger, Spi... |
ORPHA:2475 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Pectus excavatum, Back pain, Kyphosis, Sprengel anomaly, Spinal rigidity, Hyperlordosis, Scapular... |
ORPHA:98855 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Bifid ribs, Hemivertebrae, Beaking of vertebral bodies, Craniosynostosis, Sacral dimple, Narrow c... |
OMIM:213980 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
| Cap Myopathy |
|
Pectus excavatum, Facial palsy, Central hypoventilation, Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Short hu... |
OMIM:610319 |
| Cooper-Jabs Syndrome |
|
Respiratory insufficiency, Missing ribs, Proximal placement of thumb, Abnormal rib morphology, Ca... |
ORPHA:1488 |
| Bruck Syndrome 2 |
|
Pectus carinatum, Wormian bones, Knee flexion contracture, Platyspondyly, Pterygium, Femoral bowi... |
OMIM:609220 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... |
OMIM:253290 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Limited elbow extension, Block v... |
OMIM:272460 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Tapered finger, Abnormality of the metaphysis, Platyspondyly, Fla... |
ORPHA:157965 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperlordosis, Brachydactyly, Kyphosis |
ORPHA:3085 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Increased intervertebral space, Short iliac bones, Pneumonia, Irregular ve... |
OMIM:607944 |
| Fucosidosis |
|
Cervical platyspondyly, Shield chest, Barrel-shaped chest, Anterior beaking of thoracic vertebrae... |
OMIM:230000 |
| Myopathy, Myofibrillar, 6 |
|
Respiratory insufficiency, Facial palsy, Knee flexion contracture, Spinal rigidity, Reduced force... |
OMIM:612954 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Ankle flexion contracture, Respiratory insufficiency... |
ORPHA:1145 |
| Cantu Syndrome |
|
Metaphyseal widening, Broad first metatarsal, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoi... |
OMIM:239850 |
| Sillence Syndrome |
|
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... |
ORPHA:3168 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Cranial nerve compression, Abnormality of long bone morpholo... |
ORPHA:52430 |
| Satoyoshi Syndrome |
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Genu varum, Abnormality of femur morphology, Abnormal joint morphology, Abnormality of the knee, ... |
ORPHA:3130 |
| Atelosteogenesis, Type I |
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Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Short f... |
OMIM:108720 |
| Microphthalmia, Lenz Type |
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Long thorax, Abnormal clavicle morphology, Optic disc coloboma, Kyphosis, Finger syndactyly, Comp... |
ORPHA:568 |
| Multiple Synostoses Syndrome 2 |
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Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
| Autosomal Recessive Robinow Syndrome |
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Broad hallux phalanx, Death in infancy, Finger syndactyly, Camptodactyly of finger, Vertebral seg... |
ORPHA:1507 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Cough, Respiratory distress, Spinal rigidity, Dyspnea, Scoliosis, Lumbar hyperlordosis |
ORPHA:86812 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Abnormal nerve conduction velocity, Scoliosis, Kyphosis |
ORPHA:101075 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Pectus excavatum, Scoliosis, Pectus carinatum, Kyphosis |
ORPHA:276630 |
| Autosomal Recessive Stickler Syndrome |
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Irregular vertebral endplates, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Platysp... |
ORPHA:250984 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Long clavicles, Shoulder flexion contracture, Bowed humerus, Stillbirth, Platyspondyly, Knee flex... |
OMIM:210710 |
| Mosaic Trisomy 14 |
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Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
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Pectus carinatum, Kyphosis, Delayed skeletal maturation, Joint stiffness, Scoliosis |
ORPHA:1548 |
| Myopathy, Myofibrillar, 7 |
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Shoulder flexion contracture, Facial palsy, Spinal rigidity, Thoracic kyphosis, Scoliosis, Lumbar... |
OMIM:617114 |
| Chondroectodermal Dysplasia With Night Blindness |
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Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones, Metaphyseal irregula... |
ORPHA:319195 |
| Chst3-Related Skeletal Dysplasia |
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Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Abnormality of the elbow, K... |
ORPHA:263463 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly, Pectus carinatum, Abnormalit... |
ORPHA:3082 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Death in infancy, Triphalangeal thumb, Respiratory insufficiency, Proximal placement of thumb, Ab... |
ORPHA:1120 |
| Renal Dysplasia-Limb Defects Syndrome |
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Fibular aplasia, Thin ribs, Phocomelia, Pneumothorax, Neonatal death, Aplasia of the ulna, Short ... |
OMIM:266910 |
| Thanatophoric Dysplasia Type 1 |
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Short greater sciatic notch, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Bow... |
ORPHA:1860 |
| Kniest Dysplasia |
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Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Platyspondyly, Delaye... |
OMIM:156550 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Scoliosis, Lumbar hyperlordosis |
ORPHA:353 |
| Short Rib-Polydactyly Syndrome |
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Abnormal ilium morphology, Short ribs, Syndactyly, Respiratory failure, Abnormal pelvis bone morp... |
ORPHA:1505 |
| Osteogenesis Imperfecta, Type Iii |
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Biconcave vertebral bodies, Decreased calvarial ossification, Thin ribs, Pulmonary arterial hyper... |
OMIM:259420 |
| Wildervanck Syndrome |
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Pseudopapilledema, Fused cervical vertebrae |
OMIM:314600 |
| Septopreoptic Holoprosencephaly |
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Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Butyrylcholinesterase Deficiency |
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Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Wolf-Hirschhorn Syndrome |
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Abnormality of the vertebral column, Optic atrophy, Short hallux, Abnormal vertebral morphology, ... |
ORPHA:280 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Tapered finger, Tapered toe, Sacral dimple, Asthma, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
| Brachydactyly, Type B1 |
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Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Wide anterior fontanel, Hypoplast... |
OMIM:113000 |
| Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal thorax morphology |
ORPHA:1445 |
| Pallister-Hall Syndrome |
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Toe syndactyly, Mesoaxial foot polydactyly, Hemivertebrae, Mesoaxial hand polydactyly, Oligodacty... |
OMIM:146510 |
| Nail-Patella Syndrome |
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Pectus excavatum, Patellar aplasia, Hypoplastic radial head, Hypoplasia of first ribs, Iliac horn... |
OMIM:161200 |
| Lethal Congenital Contracture Syndrome 5 |
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Death in infancy, Thin ribs, Respiratory insufficiency, Decreased nerve conduction velocity, Flex... |
OMIM:615368 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Thoracic hypoplasia, Adducted thumb, Decreased fibular diameter, Multiple rib fractures, Short ri... |
OMIM:616897 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Short hallux, Broad hallux phalanx, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebra... |
ORPHA:1517 |
| Trichorhinophalangeal Syndrome, Type I |
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Cone-shaped epiphyses of the middle phalanges of the hand, Flat capital femoral epiphysis, Pectus... |
OMIM:190350 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Pectus excavatum, Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Epiphyseal dysplas... |
OMIM:617425 |
| Pycnodysostosis |
|
Spondylolysis, Stridor, Obstructive sleep apnea, Hypoplastic iliac wing, Short finger, Abnormal c... |
ORPHA:763 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
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Chronic pulmonary obstruction, Limitation of movement at ankles, Facial palsy, Hyperlordosis, Lim... |
ORPHA:437572 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Respiratory failure, Optic atrophy, Arthrogryposis multiplex congenita, Respiratory insufficiency |
OMIM:615330 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Flat capital femoral epiphysis, Irregular vertebral endplates, Tapered finger, Kyphoscoliosis, Jo... |
OMIM:612350 |
| Bethlem Myopathy |
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Interphalangeal joint contracture of finger, Ankle flexion contracture, Reduced maximal expirator... |
ORPHA:610 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... |
OMIM:250220 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Broad ulna, Hypoplasia of the radius, Hypoplasia of the ulna, Rudimentary fibula, ... |
OMIM:249700 |
| Ulnar Hemimelia |
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Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Limited elbow exte... |
ORPHA:93320 |
| King-Denborough Syndrome |
|
Kyphoscoliosis, Thoracic kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis |
OMIM:619542 |
| Myotonia Permanens |
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Dyspnea, Hyperlordosis, Asthma |
ORPHA:99735 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis |
ORPHA:369840 |
| Microspherophakia-Metaphyseal Dysplasia |
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Irregular epiphyses, Metaphyseal dysplasia, Flattened moderately deformed vertebrae, Spinal steno... |
OMIM:157151 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Central apnea, Pulmonary arterial hypertension, Platyspondyly, Kyphosis, Wide anterior fontanel, ... |
OMIM:616482 |
| Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Respiratory insufficiency, Aplasia/Hypoplasia of the phalanges of the hallux, Abno... |
ORPHA:337 |
| Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Flat acetabular roof, Anterior rib cupping, Tibial bowing, Lateral clavicle ... |
OMIM:211350 |
| Schwartz-Jampel Syndrome |
|
Death in infancy, Apnea, Protrusio acetabuli, Abnormally ossified vertebrae, Shoulder flexion con... |
ORPHA:800 |
| Achondrogenesis Type 1B |
|
Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Short neck |
ORPHA:93298 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Wormian bones, Kyphosis, Hip dislocation, Joint subluxation, Hyperlordosis, Scolio... |
OMIM:617821 |
| Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Biconcave flattened vertebrae, Wormian bones, Abnormal joint morphology |
OMIM:166230 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Decreased nerve conduction velocity, Kyphosis |
ORPHA:101078 |
| Arthrogryposis, Distal, Type 5D |
|
Adducted thumb, Calcaneovalgus deformity, Hip dislocation, Hyperlordosis, Camptodactyly, Short ne... |
OMIM:615065 |
| Atelosteogenesis Type I |
|
Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Join... |
ORPHA:1190 |
| Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, Stridor, Partial fusion of c... |
OMIM:305620 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... |
OMIM:618469 |
| Alg1-Cdg |
|
Respiratory failure, Scoliosis, Kyphosis |
ORPHA:79327 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Hallux valgus, Pectus excavatum, Reduced forced expiratory volume in one... |
OMIM:613385 |
| Mucopolysaccharidosis, Type Vii |
|
Loud snoring, Metatarsus adductus, Obstructive sleep apnea, Pectus carinatum, Anterior beaking of... |
OMIM:253220 |
| Nail-Patella Syndrome |
|
Abnormality of the knee, Cubitus valgus, Contracture of the distal interphalangeal joint of the f... |
ORPHA:2614 |
| Phaver Syndrome |
|
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Ulnar deviation of finger, Abnorm... |
ORPHA:2876 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis |
ORPHA:1192 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Abnormality of femur morphology, Respiratory insufficiency, Abnormality of... |
ORPHA:1842 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Respiratory failure |
OMIM:610127 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Spinal canal stenosis, Abnormal vertebral morphology, Tapered finger, Metaphyseal irregularity, C... |
OMIM:616007 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Spinal canal stenosis, Pectus excavatum, Vertebral fusion, Hemivertebrae, Pect... |
OMIM:263540 |
| Cohen Syndrome |
|
Optic atrophy, Tapered finger, Short metatarsal, Cubitus valgus, Genu valgum, Short metacarpal, T... |
OMIM:216550 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of the hand, Platyspondyly, Short p... |
OMIM:618958 |
| Cole-Carpenter Syndrome |
|
Bowing of the long bones, Abnormal form of the vertebral bodies, Wormian bones, Abnormality of th... |
ORPHA:2050 |
