Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Bleeding Disorder, Platelet-Type, 9 |
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Thrombocytopenia |
OMIM:614200 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Ossicular Malformations, Familial |
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Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Deafness, Conductive, With Malformed External Ear |
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Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Sugarman Brachydactyly |
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Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Brachydactyly, Type A3 |
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Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
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Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Familial Digital Arthropathy-Brachydactyly |
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Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Digital Arthropathy-Brachydactyly, Familial |
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Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Brachydactyly, Type A1, C |
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Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Gombo Syndrome |
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Clinodactyly, Abnormal heart morphology, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Brachydactyly, Type A1 |
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Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Cleidorhizomelic Syndrome |
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Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Conductive Deafness-Malformed External Ear Syndrome |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Brachydactyly, Type D |
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Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Polydactyly, Abnormal c... |
ORPHA:294975 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Deafness, Autosomal Recessive 20 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Hyperlordosis, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Dispropo... |
ORPHA:2501 |
Deafness, Autosomal Recessive 13 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Camurati-Engelmann Disease, Type 2 |
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Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr... |
OMIM:606631 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Congenital Disorder Of Glycosylation, Type Iik |
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Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Malar flattening, Failur... |
OMIM:614727 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Diastrophic Dysplasia |
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Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ... |
ORPHA:3319 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis |
ORPHA:408 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Isolated Osteopoikilosis |
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Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Brachydactyly, Type A1, B |
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Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Failure to thrive, Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dis... |
ORPHA:96183 |
Thiemann Disease, Familial Form |
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Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... |
ORPHA:577 |
Brachydactyly, Type A4 |
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Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Short stature, Spondylol... |
OMIM:600561 |
Osteogenesis Imperfecta, Type Viii |
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Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Type 1 coll... |
OMIM:610915 |
Intermediate Osteopetrosis |
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Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Fallot Complex With Severe Mental And Growth Retardation |
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Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
Brachyolmia Type 1, Toledo Type |
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Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... |
OMIM:271630 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Ck Syndrome |
|
Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, High palate, Scoliosis, Mal... |
OMIM:300831 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Atresia Of External Auditory Canal And Conductive Deafness |
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Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... |
ORPHA:324964 |
Liebenberg Syndrome |
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Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Paraspinal muscle hypertr... |
OMIM:602484 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Splenomegaly, ... |
ORPHA:61 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
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Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Brachydactyly, Type A2, With Microcephaly |
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Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... |
OMIM:136300 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon... |
OMIM:616583 |
Proteus Syndrome |
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Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Open mouth, Spinal canal stenosis, Calvarial h... |
OMIM:176920 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Facial pal... |
OMIM:255600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Ectrodactyly-Polydactyly Syndrome |
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Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee... |
OMIM:610687 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor... |
OMIM:271530 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Dental crowding, Kyphoscoliosis, Thick lower lip vermilion, Everted lo... |
OMIM:300844 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... |
OMIM:620389 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, H... |
ORPHA:2485 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Short stature, Camptodactyly of finger, Kyph... |
OMIM:612350 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism... |
ORPHA:2471 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Warburg Micro Syndrome 1 |
|
Short stature, Kyphoscoliosis, Micrognathia, Cryptorchidism, Osteoporosis, Thin vermilion border,... |
OMIM:600118 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky... |
OMIM:613330 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility |
ORPHA:300179 |
Sillence Syndrome |
|
Back pain, Slender build, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal... |
ORPHA:3168 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Genu v... |
OMIM:609223 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle... |
OMIM:619042 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture, Lower... |
OMIM:611225 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Leukodystrophy, Hypomyelinating, 17 |
|
Mandibular prognathia, Kyphoscoliosis, Flexion contracture, Gingival overgrowth, Growth delay, Wi... |
OMIM:618006 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Short stature, Kyphoscoliosis, High, narrow palate, Hypermobility of inter... |
ORPHA:3433 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene... |
ORPHA:750 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed skeleta... |
ORPHA:168621 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, High ... |
OMIM:618524 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short n... |
ORPHA:3101 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis,... |
ORPHA:970 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Severe short stature, Kyphoscoliosis, Abnormal enchondra... |
OMIM:156530 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... |
ORPHA:1159 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... |
OMIM:616668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... |
OMIM:277950 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Cerebrooculofacioskeletal Syndrome 1 |
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Delayed eruption of teeth, Failure to thrive, Small for gestational age, Kyphoscoliosis, Microgna... |
OMIM:214150 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Craniofacial osteosclerosis, Bone pain, Leukopenia, Cortical thickening ... |
ORPHA:1328 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build |
ORPHA:352470 |
Ck Syndrome |
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Microretrognathia, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, High palate, Malar flat... |
ORPHA:251383 |
Autosomal Dominant Brachyolmia |
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Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis |
ORPHA:93304 |
Exostoses With Anetodermia And Brachydactyly, Type E |
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Type E brachydactyly |
OMIM:133690 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Familial Anetoderma |
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Irregular dentition, Generalized joint laxity, Lumbar hyperlordosis, High, narrow palate |
ORPHA:228277 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Anauxetic Dysplasia 2 |
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Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P... |
OMIM:617396 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Decreased muscle mass, Micrognathia, Postnatal growth retardation, Abnormal form of the vertebral... |
ORPHA:73230 |
Schwartz-Jampel Syndrome, Type 1 |
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Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Micrognathia,... |
OMIM:255800 |
Kbg Syndrome |
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Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M... |
ORPHA:2332 |
Eng-Strom Syndrome |
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Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... |
OMIM:611067 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
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Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Retrognathia, High palate, Ty... |
OMIM:161800 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
King-Denborough Syndrome |
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Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally nucleated skeletal mus... |
OMIM:619542 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Narrow mouth, Whistling a... |
OMIM:277720 |
Metatropic Dysplasia |
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Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... |
ORPHA:2635 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
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Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Fibrodysplasia Ossificans Progressiva |
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Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... |
ORPHA:337 |
Intellectual Disability And Myopathy Syndrome |
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Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi... |
ORPHA:93315 |
Parastremmatic Dwarfism |
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Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... |
ORPHA:157973 |
Congenital Disorder Of Glycosylation, Type Iig |
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Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
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Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Progressive Pseudorheumatoid Dysplasia |
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Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
Ichthyosis--Cheek--Eyebrow Syndrome |
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High palate, Kyphoscoliosis |
OMIM:146720 |
Osteogenesis Imperfecta, Type Xiii |
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Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph... |
OMIM:614856 |
Heart-Hand Syndrome, Spanish Type |
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Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
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Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
Hall-Riggs Syndrome |
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Kyphosis, Delayed skeletal maturation, Hypoplasia of the primary teeth, Osteoporosis, Thick lower... |
OMIM:234250 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Thrombocytopenia |
OMIM:166990 |
Platelet Signal Processing Defect |
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Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... |
OMIM:610968 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... |
ORPHA:496689 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Increased circulati... |
ORPHA:1858 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
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Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Congenital Heart Defects, Multiple Types, 9 |
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Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly... |
OMIM:612847 |
Intellectual Developmental Disorder, X-Linked 82 |
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Kyphosis, Scoliosis |
OMIM:300518 |
Trichorhinophalangeal Syndrome, Type I |
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Osteopenia, Delayed eruption of teeth, Scapular winging, Ivory epiphyses of the distal phalanges ... |
OMIM:190350 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
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Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature, High palate, Cubit... |
OMIM:610313 |
Lambert Syndrome |
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Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... |
ORPHA:1296 |
Congenital Heart Defects, Multiple Types, 5 |
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Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Azoospermia, Infer... |
ORPHA:1445 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Premature... |
ORPHA:2959 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Brachydactyly Type B2 |
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Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Incr... |
ORPHA:79474 |
Brachydactyly Type B |
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Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Bardet-Biedl Syndrome 11 |
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Hypogonadism, Polydactyly, Obesity |
OMIM:615988 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contr... |
ORPHA:75496 |
Congenital Muscular Dystrophy Without Intellectual Disability |
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Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Bleeding Disorder, Platelet-Type, 19 |
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Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... |
ORPHA:90650 |
Roch-Leri Mesosomatous Lipomatosis |
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Thrombocytopenia |
ORPHA:529 |
Epiphyseal Dysplasia, Multiple, 4 |
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Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Hemifacial Atrophy, Progressive |
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Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Tarsal-Carpal Coalition Syndrome |
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Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Maxillonasal Dysplasia, Binder Type |
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Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion |
OMIM:155050 |
Frontometaphyseal Dysplasia 1 |
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Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... |
OMIM:305620 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
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Delayed epiphyseal ossification, Multiple joint dislocation, Generalized joint laxity, Abnormal c... |
ORPHA:93360 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Diaphanospondylodysostosis |
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Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Hyperekplexia 4 |
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Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly |
OMIM:618011 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Short stature, Kyphoscoliosis, Dental malocclusion |
OMIM:615541 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Abnormal shoulder morphology, Brachydactyly, Abnormal mitral valve morphology, Mesomelia |
ORPHA:1277 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity, Polydactyly, Hypogonadism, Recurrent otitis media, Hearing impairment |
OMIM:615993 |
Three M Syndrome 1 |
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Joint dislocation, Mandibular prognathia, Scapular winging, Small for gestational age, Short stat... |
OMIM:273750 |
Aneurysm-Osteoarthritis Syndrome |
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Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Scoliosis |
OMIM:616756 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... |
ORPHA:329178 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, ... |
OMIM:264180 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosynostosis, Thic... |
OMIM:619451 |
Transaldolase Deficiency |
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Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor... |
ORPHA:101028 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Ky... |
OMIM:612079 |
Double Outlet Right Ventricle |
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Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... |
ORPHA:295 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... |
OMIM:604381 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Short statur... |
OMIM:615583 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace... |
OMIM:617405 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Severe short stature, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Reduced b... |
ORPHA:2617 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, K... |
ORPHA:582 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... |
OMIM:231070 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col... |
ORPHA:485 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Short neck, Osteoarthritis, Genu varum, Joint laxity, Microretrognathia, Hyper... |
OMIM:251450 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... |
OMIM:616589 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Stillbirth, Aortic ... |
OMIM:615415 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis |
OMIM:236660 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Severe short stature, ... |
OMIM:313420 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal... |
ORPHA:2522 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... |
OMIM:253000 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ... |
OMIM:616817 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Scapular winging, Sacral dimple, Short stature, Camptodactyly of finger, O... |
ORPHA:1327 |
Hypochondroplasia |
|
Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ... |
ORPHA:429 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis, Atrial s... |
ORPHA:3304 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,... |
OMIM:114300 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Distal joint laxit... |
OMIM:617258 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Short stature, Tarsal synostosis, Multiple pterygia, Short nec... |
OMIM:178110 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Short stature, Abnormal... |
ORPHA:2916 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... |
OMIM:160500 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased suscept... |
ORPHA:52430 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Micr... |
ORPHA:48431 |
Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... |
OMIM:185700 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nuclea... |
OMIM:617760 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Micrognathia, Cryptorchidism, Furrow... |
ORPHA:1387 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ... |
OMIM:193700 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Distal amyot... |
ORPHA:3115 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Kyphoscoliosis, Cervical spondylosis, Localized osteoporosis, Lower limb pain |
ORPHA:199354 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Short stature, Kyphoscoliosis |
OMIM:600384 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Genu valgu... |
OMIM:184250 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis |
OMIM:605588 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Anemia |
ORPHA:1192 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... |
OMIM:601186 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thin upper ... |
ORPHA:3041 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Forsythe-Wakeling Syndrome |
|
Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased body weight, Th... |
OMIM:613606 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ... |
OMIM:609308 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Short stature, Small for gestational age, Dental crowding, Micrognathia, D... |
OMIM:610883 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Decreased muscle mass, Short stature, Dental crowding, Short n... |
OMIM:130720 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Abnormal dent... |
ORPHA:1798 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi... |
ORPHA:377 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, H... |
ORPHA:915 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Short stature, Micrognathi... |
OMIM:610758 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon... |
ORPHA:85446 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Seckel Syndrome 1 |
|
Pancytopenia, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathi... |
OMIM:210600 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, P... |
ORPHA:93352 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Facial palsy, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... |
ORPHA:2114 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Monosomy 5P |
|
Microretrognathia, Short stature, Recurrent fractures, Short neck, Joint hyperflexibility, High p... |
ORPHA:281 |
Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:101081 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su... |
OMIM:618624 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ... |
OMIM:616471 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... |
ORPHA:1802 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Facial palsy, ... |
ORPHA:3068 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... |
OMIM:242900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow,... |
ORPHA:263463 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... |
ORPHA:206546 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Facial palsy, Hy... |
ORPHA:2780 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormalit... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl... |
OMIM:608940 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Thoracic kyphosis, Neutropenia, Decreased circulating IgG leve... |
OMIM:271510 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... |
ORPHA:477817 |
Central Core Disease |
|
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Myopathy, ... |
ORPHA:597 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia, Edema |
OMIM:189800 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... |
OMIM:102500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl... |
OMIM:613156 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, C... |
ORPHA:93314 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Hyperlordosis, Microcy... |
OMIM:600462 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Delayed s... |
ORPHA:3085 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Sacral dimple, Short stature, Dental crowding, Kyphoscoliosis, Microgna... |
OMIM:616331 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hypoplasia, Irregular pat... |
OMIM:609325 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho... |
OMIM:612921 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Retrognathia, High palate, Neutropeni... |
OMIM:618005 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexi... |
OMIM:616549 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Growth delay, ... |
OMIM:244600 |
Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Long upper lip, Hip dislocation, Advance... |
OMIM:615349 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho... |
ORPHA:251028 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... |
OMIM:122600 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Dental crowding, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scolios... |
OMIM:236200 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Osteoporosis, Hip dislocation, Cleft pal... |
ORPHA:447980 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Lumbar hyperlordosis, Short stature, Accelerated skeletal maturation, Prem... |
OMIM:165800 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morpholo... |
ORPHA:2710 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis |
OMIM:612913 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the dentition, Thi... |
ORPHA:391307 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Smooth phi... |
OMIM:309583 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Short stature, Congenital bilateral hip dislocation |
ORPHA:85288 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Kyphoscoliosis |
OMIM:301107 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Abnormal macrophage morpho... |
ORPHA:353 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Micrognathia,... |
OMIM:121050 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglossia, High pala... |
OMIM:616354 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,... |
ORPHA:562 |
Microphthalmia, Syndromic 13 |
|
Short stature, Kyphoscoliosis, Widely-spaced incisors |
OMIM:300915 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle... |
ORPHA:35173 |
Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
Acrocapitofemoral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Hyperlordosis, Delayed skeletal maturation, Scoliosis, Gen... |
ORPHA:63446 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Small for gestational age, Kyphoscoliosis, Short neck, Pr... |
ORPHA:391408 |
Foxg1 Syndrome |
|
Short stature, Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight |
ORPHA:561854 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... |
OMIM:253010 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pancytopenia, Failure to thrive, Increased bone mineral ... |
OMIM:259700 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Short stature, Disproportionate short-limb short stature, ... |
ORPHA:156728 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Carpenter Syndrome |
|
Craniosynostosis, Kyphoscoliosis, Cryptorchidism, Obesity, Genu valgum, Polysplenia |
ORPHA:65759 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited elbow movement,... |
OMIM:300280 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... |
OMIM:615761 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Limb joint contracture, Centrally... |
OMIM:255310 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morphology, Abnorm... |
ORPHA:2370 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Harrod Syndrome |
|
Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na... |
ORPHA:2115 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Small for gestational age, Short stat... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Hip disl... |
OMIM:616507 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Genu recurvatum, Acute rhabdomyoly... |
OMIM:604168 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... |
OMIM:617022 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Micrognathia, High palate, Wrist flexion contracture, Long p... |
ORPHA:800 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Wieacker-Wolff Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... |
OMIM:314580 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Short stature, Dental crowding, Delayed skeletal maturation... |
OMIM:617877 |
Sclerosteosis 1 |
|
Mandibular prognathia, Facial palsy, Sclerotic scapulae, Irregular menstruation, Dental malocclus... |
OMIM:269500 |
Mucopolysaccharidosis, Type Iiic |
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Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Everted lower lip v... |
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