Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... |
OMIM:609223 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda... |
OMIM:173800 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o... |
OMIM:618167 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Knee flexion contracture, Narrow pelvis ... |
OMIM:602484 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Long penis, Abnormal rib morphology, Rib f... |
ORPHA:1988 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... |
OMIM:118651 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal ... |
ORPHA:1803 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... |
ORPHA:3268 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Dext... |
OMIM:613686 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morph... |
ORPHA:2310 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... |
ORPHA:2311 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu... |
OMIM:252605 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno... |
ORPHA:429 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... |
OMIM:600561 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clav... |
OMIM:619698 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral... |
OMIM:615222 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Genu varum, Patellar hypoplasia, Short femoral neck, ... |
OMIM:609325 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Pes planus, Hip contracture, Kyphoscoliosis, Hyperlordosis, Micrognathia, Coxa... |
OMIM:618363 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Pes planus, Scapular winging, Hip contracture, Hyperlordosis, Pectus excavatum, Kyphosis, Achille... |
OMIM:615290 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia |
ORPHA:156728 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic a... |
OMIM:620076 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis |
OMIM:300718 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... |
OMIM:156530 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente... |
OMIM:177170 |
Familial Anetoderma |
|
Abnormal tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso... |
OMIM:605274 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Micrognathia, Spinal rigidity, Scoliosis |
OMIM:618524 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a... |
ORPHA:577 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Talipes equinovar... |
OMIM:600175 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... |
ORPHA:2522 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Dilated cardiomyopathy, Calf muscle hypertrophy, Thorac... |
ORPHA:206546 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Myosclerosis, Autosomal Recessive |
|
Achilles tendon contracture, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Talipes, Tarsal synostosis, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C... |
ORPHA:582 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Hypospadias, Rhizome... |
OMIM:611209 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... |
OMIM:602271 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal rib morphology, Abnormal carpal morphology, Sh... |
ORPHA:93351 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ankle flexion contr... |
ORPHA:280333 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies... |
ORPHA:2831 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal lower limb muscle weakness, Hyperlordosis |
OMIM:607088 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Scapular winging, Hyperlordosis, Achilles tendon contracture, Pectus carinatum, Scoliosis, Pes cavus |
OMIM:620389 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Lumbar hyperlordosis, Radial bowing, Ovoid vertebral bodies, Broad metatarsal, ... |
OMIM:602875 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Rib fusion, Abnormal heart morphology, ... |
ORPHA:261197 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... |
OMIM:618019 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Pes planus, Scapular winging, Ventricular septal defect, Monkey wrench femoral... |
OMIM:618870 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i... |
OMIM:607095 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
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 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Clinodactyly, Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly |
OMIM:610313 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Left atrial enlargement, Dilated cardiomyopathy, S... |
OMIM:160500 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Three M Syndrome 1 |
|
Pes planus, Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height,... |
OMIM:273750 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr... |
ORPHA:93267 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hip dysplasia, Abnormality of the Achilles tendon, Hyperlordosis |
ORPHA:363454 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Talipes equinovarus, Scoliosis, Hyperlordosis |
OMIM:611067 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Hemivertebrae, Micropenis, Dysplastic sacrum, Absent verte... |
OMIM:134780 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnor... |
ORPHA:2345 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal thumb morphology, Abnormal finger morpho... |
ORPHA:2511 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... |
OMIM:263520 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Short thorax, ... |
OMIM:618845 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irreg... |
OMIM:618395 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Short ... |
OMIM:619451 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Calf muscle hypertro... |
ORPHA:267 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... |
OMIM:615633 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Pes planus, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short ... |
OMIM:619467 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Calf muscle hypertrophy, Cardiomyopathy, Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... |
OMIM:268310 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Talipes, Spinal rigidity, Narrow chest, Hyperlordosis |
ORPHA:157973 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, ... |
ORPHA:536516 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Micrognathia, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h... |
ORPHA:94068 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kypho... |
OMIM:615761 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Hypospadias, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ... |
OMIM:607143 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... |
ORPHA:15 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Short neck, Cardiomegaly, Pericardia... |
OMIM:239850 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Abnormal rib morphology, Hip di... |
ORPHA:2484 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... |
ORPHA:2319 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... |
OMIM:612813 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum... |
OMIM:612921 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Multiple renal cysts... |
ORPHA:66637 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal... |
ORPHA:3035 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of... |
OMIM:264180 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A... |
ORPHA:1507 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Bowing of th... |
OMIM:255800 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormality of the a... |
ORPHA:970 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Hyperlordosis, Kyphosis, Met... |
OMIM:181405 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ... |
ORPHA:3218 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Missing ribs, Short neck, Absent thumb, Humeroradial synostosis, Absent... |
OMIM:251230 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly |
OMIM:617352 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of toe,... |
OMIM:265000 |
Myasthenic Syndrome, Congenital, 14 |
|
Pes planus, Scapular winging, Hyperlordosis, Knee flexion contracture, Scoliosis |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Hyperlordosis |
OMIM:618129 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... |
ORPHA:1394 |
Steel Syndrome |
|
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino... |
OMIM:615155 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Cardiomegaly, Wide distal femoral metaphysis, Dela... |
OMIM:613320 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Transient nephrotic syndrome, Abnormal ... |
ORPHA:356961 |
Three M Syndrome 3 |
|
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... |
OMIM:614205 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Nemaline Myopathy 7 |
|
Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Be... |
OMIM:616897 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Calf muscle pseudohypertrophy, Scapular winging, Lumbar hyperlordosis, Achilles tendon contractur... |
ORPHA:353 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Micrognathia, Kyphosis, Po... |
ORPHA:3082 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Pes cavus |
OMIM:161800 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Ectopic kidney, Short neck |
ORPHA:2578 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Hyperlordosis, Avascular necrosis of the... |
ORPHA:77258 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
Myopathy, Scapulohumeroperoneal |
|
Achilles tendon contracture, Scapular winging, Scoliosis, Hyperlordosis |
OMIM:616852 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ... |
OMIM:100800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventricular canal defect,... |
OMIM:617925 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Nephrotic syndrome, Abnormal mitral valve morphology, Nephropathy |
ORPHA:1192 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig... |
OMIM:616817 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Micromelia, Micr... |
ORPHA:628 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... |
OMIM:258860 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il... |
OMIM:169550 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S... |
OMIM:601559 |
Ck Syndrome |
|
Micrognathia, Hyperlordosis, Kyphosis, Scoliosis, Abnormal digit morphology |
OMIM:300831 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Pectus excavatum, ... |
ORPHA:2990 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Tetralogy ... |
ORPHA:276422 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... |
ORPHA:97360 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short metacarpal, Sand... |
ORPHA:1427 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Pes cavus |
OMIM:255200 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax... |
ORPHA:1120 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Hyperlordosis, Long fingers, ... |
ORPHA:169186 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovo... |
OMIM:252920 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Congen... |
ORPHA:2970 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Pes planus, Overlapping... |
OMIM:213980 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Lower limb a... |
ORPHA:1703 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Pectus excavatum, Calf muscle hypertrophy, Talipes equin... |
OMIM:611588 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Short 5th finger, Scol... |
ORPHA:557003 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hyperlordosis, Hip dislocation, Scoliosis, Left ventricular hypertrophy, Micropenis |
OMIM:613156 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:98855 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Epispadias, Rib fusion, Vertebral arch anomaly, Cutaneo... |
OMIM:148050 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,... |
ORPHA:2475 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Micrognathia, Hip disloca... |
ORPHA:171436 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ... |
OMIM:143095 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Coxa valg... |
ORPHA:263508 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hypospadias, Missing ribs, Rib fusion, Hemivertebrae... |
OMIM:206900 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
Nemaline Myopathy 2 |
|
Calf muscle pseudohypertrophy, Talipes, Spinal rigidity, Hyperlordosis, Abnormal rib cage morphol... |
OMIM:256030 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Pectus carinatum, Coxa vara, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
Nail-Patella Syndrome |
|
Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border of the... |
OMIM:161200 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Sm... |
OMIM:619980 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small hand, Short foot, Brachyda... |
OMIM:617450 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly |
OMIM:165800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defec... |
ORPHA:280 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ... |
OMIM:215150 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachy... |
ORPHA:171866 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... |
ORPHA:98863 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Atr... |
ORPHA:96334 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Dilated ... |
ORPHA:98853 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili... |
OMIM:212720 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Scapular winging, Spinal rigidity, Cardiomegaly, Hyperlordosis, Limited knee flexion/extension, P... |
ORPHA:268 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone ... |
ORPHA:3068 |
Fucosidosis |
|
Cervical platyspondyly, Barrel-shaped chest, Hepatomegaly, Lumbar hyperlordosis, Absent/hypoplast... |
OMIM:230000 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... |
ORPHA:2911 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Cardiomyopathy, Calf muscle hypertrophy, Thigh hypertrophy... |
ORPHA:86812 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis |
ORPHA:352470 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c... |
ORPHA:93298 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos... |
ORPHA:583 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Scapular winging, Lumbar hyperlordosis, Limited knee flexion, Absent Achilles reflex, Hammertoe, ... |
ORPHA:435387 |
Ck Syndrome |
|
Microretrognathia, Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers |
ORPHA:251383 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... |
OMIM:300232 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology |
OMIM:167320 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Trichorhinophalangeal Syndrome, Type I |
|
Pes planus, Scapular winging, Short metacarpal, Ivory epiphyses of the distal phalanges of the ha... |
OMIM:190350 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finge... |
ORPHA:568 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology, Abnormality of ... |
OMIM:601076 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Scoliosis, Pes cavus |
OMIM:620285 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Ankle flexion contracture, Scoliosis, Hyperlordosis |
OMIM:617760 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi... |
OMIM:211350 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r... |
ORPHA:2876 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Right ventricular dilatation, Scoliosis, Right vent... |
OMIM:253700 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... |
OMIM:602471 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Coxa vara, Mitr... |
ORPHA:2848 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... |
OMIM:314580 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Thoracic kyphosis, S... |
OMIM:619542 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Brachydactyly, Congenital hip dislocation, Hyperlordosis, Micrognathia, Hypoplasia of... |
OMIM:616007 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Abnormal foot morphology, N... |
OMIM:269920 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Talipes calcaneovalgus, Patellar... |
ORPHA:2614 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Abnormal rib morphology, Hypoplastic ... |
ORPHA:2772 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Micrognathia, Hyperlordosis, Ulnar deviation of fin... |
ORPHA:1387 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... |
OMIM:271510 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia |
ORPHA:66630 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Ventricular septal defect, Short humerus,... |
OMIM:142900 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... |
OMIM:613848 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Micromelia, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Abno... |
ORPHA:1798 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bel... |
OMIM:619131 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femu... |
ORPHA:3130 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Vertebral segmentation d... |
ORPHA:1323 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Pes planus, Arachnodactyly, Hyperlordosis, Micrognathia, Pectus carinat... |
OMIM:300986 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal... |
OMIM:617022 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Hyperlordosis, Micrognathia, High iliac wing, Asymmetry of the thorax, Scoliosis, Large iliac win... |
ORPHA:2780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:606612 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal rigidity, Achill... |
OMIM:617114 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Brachydactyly, Rhizomelia, Hyperlordosis, Micrognathia, Kyphosis, H... |
ORPHA:763 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Increased intervertebral space, Narrow greater sciatic notch, Abnormality of the ce... |
ORPHA:508533 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis |
OMIM:255310 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... |
OMIM:166210 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom... |
ORPHA:2347 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebr... |
OMIM:118100 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch... |
ORPHA:93317 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe... |
OMIM:157800 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Cap Myopathy |
|
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Pectus excavatum, Mitral valve prolapse, Pe... |
ORPHA:171881 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia |
OMIM:620306 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch... |
ORPHA:93299 |
Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
Cohen Syndrome |
|
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Micrognathia, Tapered fin... |
OMIM:216550 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bon... |
ORPHA:1318 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Abnormal long bone morphology, Cardiomyopathy, Abnormality of the vertebral column... |
ORPHA:52430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... |
ORPHA:1788 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Cervi... |
OMIM:601389 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... |
ORPHA:1488 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Slender... |
ORPHA:1486 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Genu va... |
OMIM:618443 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... |
ORPHA:710 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Absent frontal sinuses, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Scoliosis,... |
ORPHA:314795 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb... |
OMIM:252900 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca... |
ORPHA:79345 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La... |
OMIM:617895 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Pes planus, Scapular winging, Lumbar hyperlordosis, Knee flexion contracture, Scoliosis |
ORPHA:353327 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp... |
ORPHA:2097 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fusion, Hypo... |
OMIM:194190 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... |
ORPHA:96148 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Abnorm... |
ORPHA:354 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyse... |
OMIM:225500 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
Myopathy, Centronuclear, 1 |
|
Distal lower limb muscle weakness, Hyperlordosis |
OMIM:160150 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Dilated cardiomyopathy... |
OMIM:310200 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Alagille Syndrome |
|
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Abnormal rib morph... |
ORPHA:52 |
Chromosome 10Q26 Deletion Syndrome |
|
Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Congenital hip dislocation, Toe... |
OMIM:609625 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Hydronephrosis |
ORPHA:195 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of th... |
ORPHA:73230 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Micrognathia, A... |
ORPHA:2789 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... |
OMIM:277600 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, S... |
OMIM:258315 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Pectus carinatum, Knee dislocation... |
OMIM:245600 |
Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Kyphosis, Rib fusion, Hemivertebr... |
OMIM:617140 |
Baller-Gerold Syndrome |
|
Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology, Hypoplasi... |
OMIM:218600 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Secundum atrial septal defect, Abnormal 5th f... |
ORPHA:1439 |
Dysosteosclerosis |
|
Sclerotic scapulae, Micrognathia, Increased intervertebral space, Absent frontal sinuses, Abnorma... |
OMIM:224300 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal scle... |
OMIM:260400 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... |
OMIM:304050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae,... |
ORPHA:800 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Hypospadias, Dilated cardiomyopa... |
ORPHA:1606 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Hyperlordosis, Micrognathia, Short neck, Limited knee flexion, Calcan... |
OMIM:615065 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Calf muscle hypertrophy, Hyperlordosis |
OMIM:613157 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma... |
ORPHA:1834 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Split hand, Abnormal rib... |
ORPHA:2145 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly... |
OMIM:230500 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnorma... |
ORPHA:3378 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Abnormal thorax morphology, Lateral humeral condyle aplasia, Fibular h... |
OMIM:164900 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A... |
ORPHA:2050 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Femoral bowing, Tibial bowing, ... |
OMIM:616482 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, O... |
OMIM:252930 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ... |
ORPHA:3144 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi... |
OMIM:156550 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex... |
OMIM:618150 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum ... |
ORPHA:2519 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Scapular winging, Hyperlordosis, Glutaric aciduria, Lacticaciduria, Abnormal heart ... |
ORPHA:26791 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidn... |
ORPHA:887 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scolios... |
OMIM:259420 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... |
OMIM:242900 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l... |
OMIM:253220 |
Occipital Horn Syndrome |
|
Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Aplastic ... |
ORPHA:198 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Micropenis, Hydronephrosis |
OMIM:619185 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Coxa valga... |
OMIM:608149 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis, Hyporeflexia of lower... |
ORPHA:254854 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ... |
OMIM:312150 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pectus excavatum, Inc... |
OMIM:613385 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Scoliosis, Cardiomegaly |
ORPHA:3137 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadia... |
OMIM:265380 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg... |
OMIM:241530 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ... |
OMIM:253290 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b... |
OMIM:274000 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Micrognathia, Tapered finger, Abnormal thumb morpho... |
ORPHA:1452 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hyp... |
OMIM:252500 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Micrognat... |
ORPHA:251028 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate... |
OMIM:607872 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Ve... |
OMIM:617952 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Plan... |
OMIM:109400 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abn... |
ORPHA:3015 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
Bethlem Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, Ankle flexio... |
ORPHA:610 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t... |
ORPHA:573278 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Short metatarsal, Spinal canal... |
OMIM:608328 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, Coxa valga, Vertebral ar... |
ORPHA:85184 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Micrognathia, Hyperlordosis |
OMIM:600462 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of fin... |
ORPHA:93473 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen oval... |
OMIM:269860 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Dee... |
ORPHA:96061 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem... |
ORPHA:89936 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Atrial septal defect, Micropenis, Atrioventricular canal defect, M... |
ORPHA:672 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology |
ORPHA:436 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Hepatomegaly, Hyperlordosis |
ORPHA:369840 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Mic... |
ORPHA:2020 |
Omodysplasia 2 |
|
Short humerus, Hypospadias, Micrognathia, Short 1st metacarpal, Fibular hypoplasia, Hypoplastic d... |
OMIM:164745 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Congenital Myopathy 10B, Mild Variant |
|
Achilles tendon contracture, Knee contracture, Scoliosis, Hyperlordosis |
OMIM:620249 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary epinephrine level, Scoliosis, Pes cav... |
OMIM:162300 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Hypospadias, Ectopic kidney, Absent radius, Short thumb, H... |
OMIM:192350 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in ... |
ORPHA:505248 |
Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly o... |
ORPHA:3242 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Absent Achilles reflex, Scoliosis, Hyperlordosis |
OMIM:128100 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Pes planus, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnodactyly, ... |
ORPHA:261330 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Wide capital femoral epiphyses, Short ... |
ORPHA:1830 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Arach... |
ORPHA:261344 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Cardiomegaly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender long... |
ORPHA:2463 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Pes planus, Hyperlordosis, Tapered finger, Hip dislocation, Hepatosplenomegaly, Gen... |
OMIM:301066 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:666 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses, Myocardial fibro... |
OMIM:253250 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor... |
OMIM:307800 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R... |
OMIM:210720 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Pes cavus, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognath... |
ORPHA:363700 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Pes cavus |
OMIM:615980 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste... |
OMIM:309350 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... |
ORPHA:85451 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... |
OMIM:206920 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Unilateral renal agenesis, Absent thumb, Ri... |
ORPHA:500150 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Hyperlordosis, Abnormal form o... |
ORPHA:794 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo... |
ORPHA:324410 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis |
ORPHA:615 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuses, Scoliosis... |
OMIM:269300 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th... |
ORPHA:488434 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy, Pes cavus, Abnormal renal physiology |
OMIM:266500 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Sanda... |
OMIM:210600 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Occipital Horn Syndrome |
|
Pes planus, Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, Ca... |
OMIM:304150 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly |
OMIM:618265 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... |
OMIM:224690 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm |
OMIM:244460 |
Xylt1-Cdg |
|
Pes planus, Hepatomegaly, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho... |
ORPHA:370930 |
3Mc Syndrome |
|
Hyperlordosis, Hip dislocation, Radioulnar synostosis, Prominent coccyx, Scoliosis, Spina bifida ... |
ORPHA:293843 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Finger clinodactyly, En... |
ORPHA:99776 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal... |
ORPHA:3301 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Pro... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Pro... |
ORPHA:363958 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Hyperlordosis, Abnormality of the ureter, Palmop... |
ORPHA:3253 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Hepatosplenomegaly, Platyspondyly... |
ORPHA:79255 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Thin ribs, Abnormal rib cage... |
OMIM:234100 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Abnor... |
ORPHA:1666 |
Helsmoortel-Van Der Aa Syndrome |
|
Pes planus, Prominent fingertip pads, Sandal gap, Broad hallux, Hyperlordosis, Pectus excavatum, ... |
OMIM:615873 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm... |
ORPHA:373 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Talipe... |
OMIM:619234 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Pectus carinatum, Scoliosis, ... |
OMIM:618143 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Pes cavus, Scoliosis |
OMIM:601152 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Ventricular septal defect, Thoracic hypoplasia, Abnormal heart morphology |
ORPHA:254534 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Calf muscle pseudohypertrophy, Lumbar hyperlordosis |
ORPHA:370959 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Broad hallux, Short neck, Micrognat... |
OMIM:305450 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Constricting Bands, Congenital |
|
Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis, Ectop... |
OMIM:217100 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Lateral clavicle hook, Pectus excavatu... |
OMIM:182212 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Overlapping toe, Short neck, Pericardial effusion, C... |
OMIM:139210 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradia... |
ORPHA:3404 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Thin ribs, Femoral bowi... |
OMIM:618188 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ... |
OMIM:610682 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Abnormal rib morphology, Platy... |
ORPHA:2588 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Kyp... |
ORPHA:2215 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Methylmalonic aciduria, Bell-shaped thorax, Atrial septal defect, Homocystinuria, H... |
OMIM:614857 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Pectus excavatum,... |
OMIM:618371 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped epiphysis, ... |
ORPHA:221139 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture... |
OMIM:620369 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi... |
OMIM:617088 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hypospadias |
ORPHA:456328 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Pes planus, Ventricular septal defect, Rocker bottom foot, Camptodac... |
OMIM:602782 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septa... |
OMIM:300373 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Scoliosis |
OMIM:613327 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Pedal edema |
OMIM:152800 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Epiphyseal dysplasia, Short ne... |
OMIM:252940 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... |
OMIM:269150 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Abnormal form of the vert... |
ORPHA:904 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... |
OMIM:601005 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Vesicoureteral reflux, Micropenis, Abnormal vertebral morphology, S... |
ORPHA:95699 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Talipes, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow... |
ORPHA:83 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... |
ORPHA:2879 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, ... |
ORPHA:391474 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... |
ORPHA:439 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... |
ORPHA:857 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... |
ORPHA:2041 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Cardiomyopathy, Scoliosis, Hyperlordosis |
ORPHA:258 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Hip dysplasia, Cutaneous finger sy... |
OMIM:616078 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Ureteral duplication, Renal insufficiency, Tapered toe, Long-chain dicarb... |
OMIM:608836 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular canal defect, Pre... |
OMIM:236680 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Overlap... |
ORPHA:79330 |
Kinsship Syndrome |
|
Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Renal hypoplasi... |
OMIM:619297 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T... |
OMIM:259770 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Spl... |
ORPHA:581 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Atrial septal defec... |
OMIM:214800 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Palmoplantar keratoderma, Abnormal hip bone morphology, Scoliosis, Hyperlordosis |
ORPHA:3353 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... |
ORPHA:818 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Thin ri... |
OMIM:601812 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ribs |
OMIM:612852 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Brachydactyly |
OMIM:602361 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hyperlordosis, Oligosacchariduria, Scoliosis, Left ventricular hypert... |
ORPHA:365 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Asymmetry of the thor... |
ORPHA:457359 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Kyphosis, Posterior rib ga... |
ORPHA:1393 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb |
ORPHA:171430 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thi... |
OMIM:617397 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli... |
ORPHA:522077 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Plantar pits, Abnormal rib morphology, Cardiac fibroma, A... |
ORPHA:77301 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly |
ORPHA:391428 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Tubulointerstitial nephritis, Narrow chest, Hepatomegaly, Rhizomelia, Shor... |
OMIM:218330 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Hip dysplasia, Scoliosis, Hyperlordosis |
OMIM:615356 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot |
OMIM:617011 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Micrognathia, Renal cys... |
OMIM:616975 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Camptod... |
ORPHA:254528 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Broad ischia, D... |
OMIM:619727 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Narrow chest, Scoliosis |
OMIM:182210 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Multiple small medullary renal cysts, Abnormal... |
OMIM:118450 |
Beck-Fahrner Syndrome |
|
Pes planus, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Broad clavicles, Micrognathia, ... |
OMIM:151050 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias |
OMIM:300219 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Proteinuria, Sandal gap, Micrognathia, Pectus excavatum... |
OMIM:619127 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Knee flexion... |
OMIM:619503 |
Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Abnormality of the foot musculature, Thin ribs, Calf muscle hypertrophy, Ar... |
ORPHA:169189 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Left atrial enlargement, Micrognathia, Thin ribs, Rib osteolysis, Progressive ... |
OMIM:614008 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pes planus, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, Abnormal sternum morphology, Sco... |
ORPHA:91387 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Syndactyly, Rhizomelia, Short neck, Pectus excavatum, Splenome... |
OMIM:613610 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin... |
OMIM:225400 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Mi... |
ORPHA:798 |
Fryns Syndrome |
|
Microretrognathia, Ureteral duplication, Prominent fingertip pads, Ventricular septal defect, Hyp... |
OMIM:229850 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Hepatosplenomegaly, Thoracic hypoplasia |
OMIM:608013 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Pes planus, Sacral dimple, Short neck, Hyperlordosis, Tapered finger, Long fingers, Unilateral re... |
OMIM:619950 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Micrognathia, Coxa valga, Bell-shaped thorax, Coat hanger sign of rib... |
ORPHA:254519 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... |
ORPHA:63259 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Micrognathia, Abnormality of the tarsal bon... |
ORPHA:261112 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... |
OMIM:300967 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Hypophosphaturia, Micrognathia, Hyperlordosis, Clinodactyly of the 2nd finger, ... |
ORPHA:73223 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Abnormality of the lower l... |
ORPHA:3380 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Hydr... |
OMIM:614921 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, Splenomegaly, Cardiomy... |
ORPHA:465508 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept... |
OMIM:300855 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary norepinephrine level, Hype... |
ORPHA:653 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Hepatosplenomegaly, Oligosacchari... |
ORPHA:309282 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ... |
ORPHA:217085 |
Charge Syndrome |
|
Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Horseshoe kidney, Bif... |
ORPHA:138 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Episp... |
ORPHA:2554 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ... |
ORPHA:217093 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Bicuspid aortic valve, Down-sloping shoulders, Kyphoscoliosis, ... |
OMIM:309800 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm... |
ORPHA:667 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the d... |
ORPHA:83617 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Situs inversus totalis, Abnormal rib ... |
ORPHA:991 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ... |
ORPHA:2232 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... |
ORPHA:2907 |
Oculocerebrorenal Syndrome Of Lowe |
|
Renal insufficiency, Proteinuria, Micrognathia, Kyphosis, Abnormal rib morphology, Proximal renal... |
ORPHA:534 |
Bohring-Opitz Syndrome |
|
Micrognathia, Pectus excavatum, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retenti... |
ORPHA:97297 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology... |
ORPHA:2908 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ... |
ORPHA:1662 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Patent foramen ovale, Small hand, Horseshoe... |
ORPHA:444077 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pectus excavatum, Hepatosplenomegaly |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Abetalipoproteinemia |
|
Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Talipes equinovarus, Distal lower limb muscle weaknes... |
ORPHA:14 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Branchiooculofacial Syndrome |
|
Hypospadias, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Shor... |
OMIM:113620 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Cardiomegaly, Pericardial ef... |
ORPHA:51608 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial ... |
ORPHA:980 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Multiple rib fractures, Femur fracture, Hepatomegaly |
OMIM:612301 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Hypospadias, Short neck, Secundum atrial septal defect, Hyp... |
OMIM:264090 |
Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Abnormal long bone morphology, Abnormality of the vertebral co... |
ORPHA:228123 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... |
OMIM:208150 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Micropenis, Scoliosis, Hypertrophic cardiomyopathy |
ORPHA:51 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... |
OMIM:256040 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly |
ORPHA:137675 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Micrognathia, Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, R... |
ORPHA:2785 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Micrognathia, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Micr... |
OMIM:619991 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |