| Coxa Vara |
|
Coxa vara |
OMIM:122750 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... |
OMIM:620236 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... |
OMIM:615184 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Ventricular septal defect,... |
ORPHA:3449 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Neutrope... |
ORPHA:175 |
| Mucopolysaccharidosis Type 4 |
|
Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... |
ORPHA:582 |
| Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
| Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Oxycephaly, Hepatosplenomegaly, Abno... |
ORPHA:221054 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-... |
OMIM:614524 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... |
OMIM:609324 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid ... |
OMIM:253000 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Failure to thrive, Thick nasa... |
ORPHA:583 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Mandibular prognathia, Cran... |
OMIM:122860 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Optic atrophy, Finger syndactyly, Abnormality of the nose, Curved dist... |
ORPHA:3152 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid ... |
OMIM:253010 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Achard Syndrome |
|
Arachnodactyly, Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Di... |
ORPHA:1513 |
| Otopalatodigital Syndrome Type 1 |
|
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... |
ORPHA:90650 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, ... |
ORPHA:217340 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... |
OMIM:617719 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Short ribs, Carpal bone hypoplasia... |
OMIM:252600 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... |
OMIM:609052 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... |
ORPHA:93396 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,... |
OMIM:184255 |
| Chondrodysplasia Calcificans Metaphysealis |
|
Metaphyseal chondrodysplasia, Mucopolysacchariduria, Metaphyseal dysplasia |
OMIM:215050 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, G... |
OMIM:614078 |
| Oculoskeletodental Syndrome |
|
Wide nasal bridge, Broad columella, Renal agenesis, Thoracic hypoplasia, Elbow flexion contractur... |
OMIM:618440 |
| Fibular Hemimelia |
|
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... |
ORPHA:93323 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Abnormal epiphysis morphology, Joint dislocation, Thick nasal alae, Abnor... |
ORPHA:579 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Microcephaly, Abnormal rib morphology... |
ORPHA:3268 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Pectus carinatum, Genu valgum, Mucopolysacchariduria, Shield chest, Short femoral neck, Short palm |
OMIM:184095 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Diap... |
OMIM:607014 |
| Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Obesity, Cubitus valgus, Short foot, Short nose |
OMIM:300577 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Micrognathia, Long thorax, Brachydactyly, Convex nasal ridge, Mesom... |
ORPHA:1277 |
| Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... |
OMIM:256050 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Obesity, Femoral bowing, Short... |
ORPHA:174 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Optic atrophy, Hearing impairment, Hypertelorism, Craniosynostosis, Facial palsy, Incr... |
ORPHA:178377 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Micrognathia, Bowing of th... |
ORPHA:628 |
| Odontochondrodysplasia |
|
Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Mic... |
ORPHA:166272 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Mi... |
OMIM:252500 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Depressed nasal... |
OMIM:600373 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction |
ORPHA:2380 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger |
OMIM:259270 |
| Achondroplasia |
|
Flat acetabular roof, Thoracic hypoplasia, Obesity, Limited elbow extension, Knee joint hypermobi... |
ORPHA:15 |
| Hurler Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Abnormal epiphysis morphology, Abnormal clavicle morph... |
ORPHA:93473 |
| Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Horseshoe kidney, Calcification... |
ORPHA:2867 |
| Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Broad ribs, Brach... |
OMIM:277600 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ... |
OMIM:253200 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera... |
ORPHA:3416 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxil... |
ORPHA:1529 |
| Kyphomelic Dysplasia |
|
Narrow chest, Micromelia, Micrognathia, Undulate ribs, Bowing of the long bones, Missing ribs, La... |
ORPHA:1801 |
| Mucopolysaccharidosis, Type X |
|
Wide nasal bridge, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate... |
OMIM:619698 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Anteverted nares, Hydronephrosis, Frontal bossing... |
ORPHA:1450 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Mucopolysaccharidosis, Type Vii |
|
Thoracolumbar kyphosis, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasi... |
OMIM:253220 |
| Mucolipidosis Iii Gamma |
|
Pectus carinatum, Genu valgum, Claw hand deformity, Flared iliac wing, Mucopolysacchariduria, Fla... |
OMIM:252605 |
| Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Tombstone-shaped proximal phalanges, Rhizomelia, Hypoplasia of the maxill... |
OMIM:108721 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizom... |
OMIM:300863 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Micromelia, Finger syndactyly, Abnormal rib morphology, Micrognathia,... |
ORPHA:2145 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Micro... |
OMIM:613320 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... |
OMIM:112450 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Single transverse palmar crease,... |
OMIM:601224 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e... |
OMIM:226900 |
| Jeune Syndrome |
|
Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ... |
ORPHA:474 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... |
ORPHA:2097 |
| Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Sclerosis of foot bone, Abnormality of the os naviculare pedis, Tibial to... |
ORPHA:566943 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... |
ORPHA:63446 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Flattened epiphysis, Flat acetabular roof, Short nose, Abnormality of the elbow, Sl... |
ORPHA:163649 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the ... |
ORPHA:2511 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Broad nasal tip, Hypoplasia of... |
OMIM:136760 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G... |
ORPHA:2790 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Failure to thrive... |
ORPHA:1842 |
| Hypochondroplasia |
|
Depressed nasal bridge, Flared metaphysis, Frontal bossing, Trident hand, Limited elbow extension... |
OMIM:146000 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Hurler-Scheie Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture ... |
OMIM:607015 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Pectus carinatum, Broad nasal tip, Hepatosplenomegaly, Urinary glycosamin... |
ORPHA:79255 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Iris coloboma, Mitral regurgitation, Patent foramen ovale |
ORPHA:88630 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... |
ORPHA:950 |
| Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Short finger, Elb... |
OMIM:608328 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle mor... |
ORPHA:93267 |
| Multiple Sulfatase Deficiency |
|
Depressed nasal bridge, Broad thumb, Anteverted nares, Splenomegaly, Microcephaly, Mucopolysaccha... |
ORPHA:585 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Hypoplasia of the maxilla, Proptosis, Carpal osteolysis, Wrist swelling, Metacarpal o... |
OMIM:166300 |
| Osseous Heteroplasia, Progressive |
|
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... |
OMIM:619402 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Renal hypoplasia, Toe syndactyly, Pectus carinatum, Renal agenesis, Obesi... |
ORPHA:171839 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pulmonary venous hype... |
ORPHA:75249 |
| Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, Broad long bone... |
ORPHA:2347 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Micromelia, Elbow dislocation, Frontal bossing, Pterygium, Sh... |
ORPHA:93329 |
| Mosaic Trisomy 14 |
|
Wide nasal bridge, Hypospadias, Narrow chest, Failure to thrive, Camptodactyly of finger, Antever... |
ORPHA:1703 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... |
OMIM:611263 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Choanal atresia, Underdeveloped nasal alae, Overhanging nasal... |
ORPHA:163979 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... |
OMIM:608154 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ... |
OMIM:617102 |
| Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Abnormality of the urinary system, Micrognathia, Microcephaly, Brachyceph... |
ORPHA:1695 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Proptosis, Low-set, posteriorly rotated ears, Reduced bon... |
ORPHA:2370 |
| Mucopolysaccharidosis Type 7 |
|
Abnormal hip bone morphology, Epiphyseal stippling, Splenomegaly, Mucopolysacchariduria, Metatars... |
ORPHA:584 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:617642 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Large earlobe, Ant... |
OMIM:616809 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... |
OMIM:249710 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... |
OMIM:228520 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse |
OMIM:225320 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone dens... |
OMIM:136300 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Decreased motor nerve cond... |
OMIM:218000 |
| Achondrogenesis Type 1B |
|
Narrow chest, Micromelia, Short thorax, Abnormal rib morphology, Anteverted nares, Micrognathia, ... |
ORPHA:93298 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Irregular epiphyses, Posterior rib cupping, S... |
OMIM:608728 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Macrocephaly, Advanced tarsal ossificati... |
OMIM:269250 |
| Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Toe syndactyly, Mandibular prognathia, Preaxial foot polydactyly, Symp... |
ORPHA:1540 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Mitral valve prolapse |
OMIM:173900 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract, Mitral regurgitation, Mitral valve prolapse, Pericarditis |
ORPHA:2848 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... |
OMIM:166210 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands |
OMIM:615198 |
| Summitt Syndrome |
|
Depressed nasal ridge, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Obesity, Genu v... |
ORPHA:3210 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:184260 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... |
OMIM:271665 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... |
ORPHA:93351 |
| Craniometaphyseal Dysplasia |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Conductive hearing impairme... |
ORPHA:1522 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Elbow... |
OMIM:252940 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Heparan sulfate excretion in urine, Hepatosplenomegaly, Scaphocephaly,... |
OMIM:309900 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short nose, Microgna... |
ORPHA:93328 |
| Dysostosis, Stanescu Type |
|
Macroglossia, Hypoplasia of the maxilla, Carious teeth, Proptosis, Micromelia, Massively thickene... |
ORPHA:1798 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Anteverted nares, Sho... |
OMIM:618961 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip ... |
OMIM:618821 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
| Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Diastrophic Dysplasia |
|
Laryngotracheal stenosis, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger... |
OMIM:222600 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip, Proptosis, Osteolysis |
ORPHA:2776 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Pentasomy X |
|
Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Micrognathia, Radioulnar s... |
ORPHA:11 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
| Opsismodysplasia |
|
Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Flat occiput, F... |
ORPHA:2746 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... |
OMIM:151210 |
| Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Short thorax, Short nose, Anteverted nares, Micrognathia, Multiple rib ... |
ORPHA:93299 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
| Greenberg Dysplasia |
|
Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Calvarial ... |
ORPHA:1426 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Plagiocephaly, Slender long bone, Retrognathia, Trigonocephaly, Micrognathia, Vesicour... |
OMIM:618265 |
| Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s... |
OMIM:300244 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... |
ORPHA:2631 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Hypospadias, Short metaca... |
ORPHA:439822 |
| Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, T... |
OMIM:252920 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Bowing of the long bones, Sprengel anomaly, Brachydactyly, Dolichocephaly... |
ORPHA:40 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Failure to thrive,... |
OMIM:620099 |
| Acromicric Dysplasia |
|
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Joint... |
ORPHA:969 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... |
OMIM:251450 |
| Keipert Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Depressed nasal brid... |
ORPHA:2662 |
| Periventricular Nodular Heterotopia 7 |
|
Ataxia, Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint ... |
OMIM:617201 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
| Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Anteverted nares, Microcephaly, Brachycephaly, Short nose, Prominent metopic ridge |
ORPHA:46 |
| 3M Syndrome |
|
Thin ribs, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Bulbous nose, Horizontal ri... |
ORPHA:2616 |
| Distal Duplication 18Q |
|
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Anteverted nares, M... |
ORPHA:1716 |
| Pierpont Syndrome |
|
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Failure to thrive, Malar flat... |
OMIM:602342 |
| Camurati-Engelmann Disease, Type 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:606631 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed... |
ORPHA:83 |
| Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, D... |
OMIM:252930 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Rachitic rosary, Phosphoethanolaminuria, Craniosynostosis, Elevated urine pyrophos... |
OMIM:241510 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... |
ORPHA:324410 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Hearing impairment, Single transverse palmar crease, Prominent nasal tip, Hypertelo... |
ORPHA:502430 |
| Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, T... |
OMIM:252900 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Narrow nasal bridge, Microcephaly, Hip dysplasia, Short nose |
OMIM:618379 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Anemia, Multiple enchondromatosis, Abnormal metaphysis... |
ORPHA:296 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Hypertelorism |
OMIM:125700 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Renal dysplasia, ... |
OMIM:241800 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... |
ORPHA:163966 |
| Pycnodysostosis |
|
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Mild conductive heari... |
ORPHA:763 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sprengel anomaly, Hypospadias, Depressed nasal ridge, Plagiocephaly, Brachydac... |
ORPHA:1520 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Enlarged joints... |
ORPHA:156728 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Sclerosteosis 2 |
|
Hearing impairment, Short finger, Cranial nerve compression, Cutaneous finger syndactyly, Spastic... |
OMIM:614305 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Low-set, posteriorly rotated ears, Micr... |
ORPHA:261120 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes equi... |
OMIM:108720 |
| Pfeiffer Syndrome |
|
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... |
OMIM:101600 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Plagiocephaly, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synos... |
OMIM:618577 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... |
OMIM:187601 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... |
ORPHA:1327 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Small for ges... |
OMIM:215250 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
| Prieto Syndrome |
|
Low-set ears, Clinodactyly, Cerebral atrophy, Radial deviation of finger, Retrognathia, 11 pairs ... |
OMIM:309610 |
| Atelosteogenesis Type Ii |
|
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Be... |
ORPHA:56304 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia... |
OMIM:215045 |
| Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
| Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Clinodactyly, Hypogonadism, Malar flattening, Deeply set eye, 2-3 toe syn... |
OMIM:615984 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... |
OMIM:156510 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Ruvalcaba Syndrome |
|
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr... |
ORPHA:3121 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Horizontal inferior border... |
ORPHA:239 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Low-set ears, Clinodactyly, Hearing impairment, Recurrent otitis media, Bulbou... |
OMIM:613604 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, Short foot, ... |
OMIM:166250 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped femur, Flare... |
OMIM:156550 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb... |
OMIM:618728 |
| Achondrogenesis, Type Ia |
|
Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphology, Severe li... |
OMIM:200600 |
| Multiple Sulfatase Deficiency |
|
Broad thumb, Broad hallux, Anteverted nares, Splenomegaly, Hypoplastic vertebral bodies, Mucopoly... |
OMIM:272200 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Arthralgia of the hip, Avascular necrosis of the capital femoral... |
ORPHA:93308 |
| 17P13.3 Microduplication Syndrome |
|
Congenital hip dislocation, Clinodactyly of the 5th finger, Hypoplasia of penis, Frontal bossing,... |
ORPHA:217385 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... |
OMIM:601382 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormal rib morphology, Thick nasal ala... |
ORPHA:581 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Anterior rib cup... |
OMIM:258480 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs,... |
OMIM:615633 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal... |
ORPHA:363417 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Bowing ... |
ORPHA:429 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Retrognathia, Failure to thrive in infancy, Obesity, Malar flattening, Macroceph... |
OMIM:613670 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... |
ORPHA:2831 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Hypoplasia of the ... |
ORPHA:1248 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Macrocephaly, Abnormal rib morphology,... |
ORPHA:1506 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Deeply ... |
ORPHA:85279 |
| 20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Pectus carinat... |
ORPHA:261295 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Anteverted... |
OMIM:616897 |
| Monosomy 5P |
|
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated... |
ORPHA:281 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Narrow nasal bridge, Micrognathia, Brachycephaly, Spina bifida occulta, Short ... |
ORPHA:1514 |
| Miller-Dieker Syndrome |
|
Cerebral cortical atrophy, Anteverted nares, EEG abnormality, Omphalocele, Ataxia, Clinodactyly o... |
ORPHA:531 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Low-set ears, Broad thumb, Proptosis, Clinodactyly, Prominent fingertip pads, ... |
OMIM:618529 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal rib morphology, Abnormal dental e... |
ORPHA:2180 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Cerebellar atrophy, Inability to walk, Short nose, Hypertelorism, Macrotia |
ORPHA:438178 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Sandal gap, Clinodactyly, Obesity, Anteverted nares, Microcephaly, Brachy... |
OMIM:617752 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Depressed nasal bridge, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral ... |
OMIM:617895 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Hypoplasia of the odontoid process, Failure to thrive, Elbow dislocation, Anteverted ... |
OMIM:264180 |
| Ruvalcaba Syndrome |
|
Small hand, Narrow chest, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow exten... |
OMIM:180870 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Depressed nasal ridge, Proptosis, Retrognathia, Anteverted nares, Micrognathia, Man... |
ORPHA:1832 |
| Three M Syndrome 2 |
|
Short 5th finger, Depressed nasal bridge, Thin ribs, Pectus carinatum, Dental malocclusion, Slend... |
OMIM:612921 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Depressed nasal bridge, Hypercalciuria, Metaphyseal dysplasia, Macrocephaly... |
OMIM:614732 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Slender build, Prominent nasal bridge,... |
OMIM:300676 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... |
OMIM:155050 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim... |
ORPHA:2204 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Clinodactyly, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Deeply set eye, Li... |
OMIM:618087 |
| Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Mitral regurgitation |
OMIM:612954 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone, Abnormal joint morphology |
OMIM:262500 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Myopic astigmatism, Abnormal heart valve morphology, Tricuspid regurgitatio... |
ORPHA:230851 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Low-set ears, Retrognathia, Finger clinodactyly, Cerebral atrophy, Prominent nose, Inguinal herni... |
ORPHA:2958 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Carious teeth, Thoracic hypoplasia, Short thorax, Knee ... |
OMIM:618363 |
| ERI1-related disease |
|
Micrognathia, Decreased body weight, Patellar dislocation, Finger joint hypermobility, Dislocated... |
OMIM:608739 |
| Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Arachno... |
ORPHA:776 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615959 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Mandibular prognathia, Cone-shaped epiphysis, Obesity, Anteverted nares, ... |
OMIM:614613 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Toe syndactyly, Abnormal epiphysis morpholo... |
ORPHA:3082 |
| Pfeiffer Syndrome Type 1 |
|
Low-set ears, Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Proptosis, ... |
ORPHA:93258 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu... |
OMIM:600002 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Trigonocephaly, Anteverted nares, Microcephaly, Clinodactyly of the 5th finger, Rocker bottom foo... |
OMIM:618506 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, Delayed eruption ... |
ORPHA:1782 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
| Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... |
OMIM:211350 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
| Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Hypoplastic cervical ... |
ORPHA:2635 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... |
ORPHA:2633 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... |
OMIM:620300 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Broad ribs, Renal insufficiency, Abnormal long bone morphology, Eosino... |
ORPHA:228123 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... |
ORPHA:3258 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse |
OMIM:615539 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Toe syndactyly, Abnormality of the diaphragm, Anteverted nares, Amelia, Congenital ... |
OMIM:601163 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Metaphyseal dysplasia, Joint dislocation, Thoracic hypoplasia, Femora... |
OMIM:618019 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Corneal opacity, Right vent... |
ORPHA:423461 |
| Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation |
OMIM:301080 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Hepatosplenomegaly, Micrognathia, Barrel-shaped chest,... |
OMIM:215140 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Premature osteoarthriti... |
ORPHA:93284 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Abnorm... |
ORPHA:2522 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Carious teeth, Proptosis, Skeletal muscle atrophy, Hearing impairment, Cra... |
OMIM:131300 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:212140 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... |
OMIM:300280 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Long nose, ... |
OMIM:257850 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-sha... |
ORPHA:397973 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Short femur |
OMIM:601357 |
| Keipert Syndrome |
|
Low-set ears, Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Prominent ... |
OMIM:301026 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Proptosis, Hearing impai... |
ORPHA:1914 |
| Image Syndrome |
|
Depressed nasal bridge, Hypospadias, Micromelia, Hydronephrosis, Metaphyseal dysplasia, Frontal b... |
ORPHA:85173 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Decreased body weight, Ar... |
OMIM:600325 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Megalocornea, Tricuspid regurgitation, Aniridia, Mitral regurgitation, Tricuspid valve prolapse, ... |
ORPHA:1101 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Dilatation of t... |
OMIM:600920 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, ... |
ORPHA:1307 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Turricephaly, Brachycephaly, Abnorm... |
ORPHA:93262 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... |
OMIM:164900 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Abnormal metacarpal morphology, H... |
ORPHA:1452 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
| Melorheostosis |
|
Atypical scarring of skin, Skeletal muscle atrophy, Joint stiffness, Ectopic ossification in musc... |
ORPHA:2485 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Obesity, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618725 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the ... |
ORPHA:2547 |
| Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Plagiocephaly, Narro... |
OMIM:618853 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Low-set ears, Broad nasal tip, Umbilical hernia, Micrognathia, Prominent nasal bridge, Inguinal h... |
OMIM:613544 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum... |
ORPHA:93333 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Mitral regurgitation |
OMIM:614434 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Broad thumb, Hearing impairment, Difficulty walking, Arachnodactyly, Ataxia, Hypert... |
ORPHA:481152 |
| Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Small for gestatio... |
OMIM:216550 |
| Peho-Like Syndrome |
|
Optic atrophy, Cerebellar atrophy, Retrognathia, Hypsarrhythmia, Short nose, Tapered finger |
OMIM:617507 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed eruption of ... |
ORPHA:915 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cortical sclerosis, Cranial nerve ... |
ORPHA:210110 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... |
OMIM:616564 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax |
ORPHA:93283 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Barrel-shaped chest... |
OMIM:612813 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndact... |
OMIM:206920 |
| Chung-Jansen Syndrome |
|
Macrotia, Large earlobe, Anteverted nares, Micrognathia, Deeply set eye, Joint hypermobility, Hyp... |
OMIM:617991 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Finger joint hypermobility, Fla... |
OMIM:618870 |
| Fucosidosis |
|
Brachycephaly, Mucopolysacchariduria, Failure to thrive |
ORPHA:349 |
| C Syndrome |
|
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... |
OMIM:211750 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... |
OMIM:212093 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... |
OMIM:601812 |
| Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan s... |
OMIM:615273 |
| Harel-Yoon Syndrome |
|
Ataxia, Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Inability to walk, Micrognathia, De... |
OMIM:617183 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Sensorineural heari... |
OMIM:617519 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Pr... |
ORPHA:380 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... |
ORPHA:422 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibial metaphyseal... |
ORPHA:457395 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depressed nasal bridge... |
ORPHA:85166 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Depressed nasal bridge, Narrow chest, Micromelia, Short thorax, Fronta... |
ORPHA:2655 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Narrow chest, Delayed... |
ORPHA:2484 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Achondrogenesis |
|
Narrow chest, Micromelia, Short thorax, Anteverted nares, Micrognathia, Macrocephaly, Frontal bos... |
ORPHA:932 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Genu valgum, Long thorax, Postaxial polydactyly, Limb undergrowth, Ove... |
OMIM:619142 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Bulbous nose, Anteverted nares, Short l... |
OMIM:102370 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Skeletal muscle atrophy, Hearing impairment, Wide distal femoral metap... |
OMIM:614856 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid... |
OMIM:614823 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Hearing impairment, Hip contracture, Deeply set eye, Hernia, Talip... |
OMIM:193700 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Abnormal joint m... |
ORPHA:1427 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Abnormal tibia morphology, ... |
ORPHA:2496 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Depressed nasal ridge, Small hand, Plagiocephaly, Anteverted nares, Prominent occiput, Malar flat... |
OMIM:618672 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
| Hall-Riggs Syndrome |
|
Wide nasal bridge, Abnormal epiphysis morphology, Failure to thrive, Delayed eruption of teeth, A... |
ORPHA:2107 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Proptosis, Depressed na... |
ORPHA:50945 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Flat occiput, Retrognathia, Trigonoce... |
OMIM:613792 |
| Thoracolaryngopelvic Dysplasia |
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Hypoplastic iliac wing, Slender build, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... |
OMIM:187760 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Finger syndactyly, Frontal bossing, ... |
ORPHA:2256 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
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Low-set ears, Prominent fingertip pads, Decreased muscle mass, Bulbous nose, Prominent nose, Dysm... |
OMIM:617773 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal rib cage morphology, Depressed nasal bridge, Pectus carinatum, Hypoplasia of the odontoi... |
OMIM:184252 |
| Albers-Schönberg Osteopetrosis |
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Short distal phalanx of finger, Optic atrophy, Mandibular osteomyelitis, Abnormal epiphysis morph... |
ORPHA:53 |
| Mietens Syndrome |
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Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... |
ORPHA:2557 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Low-set ears, Depressed nasal bridge, Inability to walk, Anteverted nares, Single transverse palm... |
OMIM:613443 |
| Fabry Disease |
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Mitral regurgitation, Arrhythmia, Achalasia, Cataract, Hypertrophic cardiomyopathy, Bundle branch... |
ORPHA:324 |
| Muenke Syndrome |
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Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ... |
OMIM:602849 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
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Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Patellar dislocation, F... |
OMIM:620663 |
| Collagenoma, Familial Cutaneous |
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Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
| Potocki-Shaffer Syndrome |
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Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Micrognathia,... |
ORPHA:52022 |
| Contractural Arachnodactyly, Congenital |
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Ectopia lentis, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid ... |
OMIM:121050 |
| Craniosynostosis With Fibular Aplasia |
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Fibular aplasia |
OMIM:218550 |
| Al-Raqad Syndrome |
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Low-set ears, Sandal gap, Inability to walk, Gait ataxia, Joint hypermobility, Deeply set eye, Br... |
OMIM:616459 |
| Robinow Syndrome, Autosomal Dominant 2 |
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Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Hy... |
OMIM:616331 |
| Charcot-Marie-Tooth Disease, Type 4D |
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Distal amyotrophy, Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve condu... |
OMIM:601455 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Broad femoral neck, Proptosis, Abnormal diaphysis morphology, Overtubulated long bone... |
ORPHA:85184 |
| Mucopolysaccharidosis Type 2, Severe Form |
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Wide nasal bridge, Recurrent upper respiratory tract infections, Camptodactyly of finger, Temporo... |
ORPHA:217085 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
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Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... |
OMIM:123000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Abnormal B cell morphology, Depressed nasal bridge, Polydactyly, Microcephaly, Hypoplastic ischia... |
OMIM:616910 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Genu ... |
ORPHA:1295 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
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Mandibular prognathia, Broad thumb, Plagiocephaly, Prominent fingertip pads, Failure to thrive, G... |
OMIM:619721 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... |
OMIM:271650 |
| Hypophosphatasia |
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Narrow chest, Failure to thrive in infancy, Bowing of the long bones, Abnormal rib morphology, An... |
ORPHA:436 |
| Neonatal Marfan Syndrome |
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Abnormal cardiac ventricle morphology, Ectopia lentis, Megalocornea, Tricuspid regurgitation, Mit... |
ORPHA:284979 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
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Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Optic atrophy, Flared metaphysis... |
OMIM:218400 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
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Micromelia, Sandal gap, Abnormality of the ureter, Obesity, Genu valgum, Anteverted nares, Arachn... |
ORPHA:1035 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
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Hypoplasia of the maxilla, Decreased body weight, Microcephaly, Brachycephaly, Mandibular prognat... |
ORPHA:93950 |
| Edinburgh Malformation Syndrome |
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Slender finger, Ulnar deviation of finger, Choanal atresia, Failure to thrive, Anteverted nares, ... |
ORPHA:1895 |
| Three M Syndrome 1 |
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Short 5th finger, Depressed nasal bridge, Hypospadias, Small for gestational age, Joint dislocati... |
OMIM:273750 |
| Congenital Tricuspid Stenosis |
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Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Depressed nasal bridge, Proximal femoral epiphysiolysis, Skull asymmetry, Frontal bossing, Small ... |
OMIM:616723 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
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Wide nasal bridge, Recurrent upper respiratory tract infections, Camptodactyly of finger, Temporo... |
ORPHA:217093 |
| Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... |
OMIM:601596 |
| Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Abnormal epiphysis morphology, Proptosis, Abnormal vertebral epiphysis... |
ORPHA:90653 |
| Van Buchem Disease |
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Hearing impairment, Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral ... |
OMIM:239100 |
| Juberg-Hayward Syndrome |
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Toe syndactyly, Short thumb, Horseshoe kidney, Abnormality of the wrist, Wide nose, Radioulnar sy... |
ORPHA:2319 |
| Polydactyly, Postaxial, Type A1 |
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Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Otopalatodigital Syndrome Type 2 |
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Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... |
ORPHA:90652 |
| Acromesomelic Dysplasia 1 |
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Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Lower thoraci... |
OMIM:602875 |
| Fibrochondrogenesis |
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Depressed nasal bridge, Hypoplastic scapulae, Plagiocephaly, Narrow chest, Micromelia, Abnormal d... |
ORPHA:2021 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Wide nasal bridge, Hypoplastic ilia, Narrow chest, Micromelia, Broad long bones, Clubbing of fing... |
ORPHA:1865 |
| Moebius Syndrome |
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Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim... |
OMIM:157900 |
| Martsolf Syndrome 1 |
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Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility, Short metacarpal,... |
OMIM:212720 |
| Raine Syndrome |
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Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Bowing ... |
OMIM:259775 |
| Neurogenic Arthrogryposis Multiplex Congenita |
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Ankle flexion contracture, Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Micrognathia,... |
ORPHA:1143 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Osteopetrosis, Autosomal Dominant 1 |
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Abnormal pelvic girdle bone morphology, Conductive hearing impairment, Mandibular pain, Thickened... |
OMIM:607634 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
| Heart Defects-Limb Shortening Syndrome |
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Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal metaphysis morphology, Abnormal rib ... |
ORPHA:1354 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Obesity, Carpal bone... |
OMIM:618395 |
| Cooper-Jabs Syndrome |
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Camptodactyly of finger, Frontal bossing, Abnormal hip bone morphology, Anteverted nares, Malar f... |
ORPHA:1488 |
| Foxp1 Syndrome |
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Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly,... |
ORPHA:391372 |
| Osteogenesis Imperfecta, Type Xvi |
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Rhizomelia, Microretrognathia, Narrow chest, Decreased calvarial ossification, Bowing of the long... |
OMIM:616229 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation, Astigmatism |
OMIM:619576 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Hearing impairment, Hypogonadism... |
OMIM:302950 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Missing rib... |
OMIM:619859 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Increased variability in muscle fiber diameter, Abnormal amplitude of pattern reversal visual evo... |
OMIM:125250 |
| Microcephalic Primordial Dwarfism, Toriello Type |
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Abnormal epiphysis morphology, Microcephaly, Enamel hypoplasia, Brachydactyly, Neutropenia, Abnor... |
ORPHA:2643 |
| Cornelia De Lange Syndrome 5 |
|
Depressed nasal bridge, Small hand, Toe syndactyly, Broad nasal tip, Retrognathia, Anteverted nar... |
OMIM:300882 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,... |
OMIM:620073 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
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Telangiectasia of the skin, Dilated cardiomyopathy, Mitral regurgitation, Cardiomyopathy |
OMIM:212112 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Deviation of finger, Anteve... |
ORPHA:2412 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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