Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Complete duplication of the distal phalanges of the hand, Hypertension, Multiple... |
ORPHA:1879 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th fin... |
OMIM:618453 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Cardiomyopathy, Dilated, 1A |
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Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Absent P wave, First degree atrioventricular block, Sudden cardiac death, Achilles tendon contrac... |
OMIM:310300 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Brachyolmia Type 1, Hobaek Type |
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Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Progressive Familial Heart Block, Type Ii |
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Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Inguinal hernia, Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density... |
OMIM:618392 |
Long Qt Syndrome 8 |
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Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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First degree atrioventricular block, Spinal rigidity, Sudden cardiac death, Neck joint contractur... |
OMIM:181350 |
Heart-Hand Syndrome, Slovenian Type |
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Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Back pain, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Spinal rigidity, Hyper... |
ORPHA:98855 |
Congenital Myopathy 5 With Cardiomyopathy |
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Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Atrioventricular reentran... |
OMIM:611705 |
Long Qt Syndrome 13 |
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Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Holt-Oram Syndrome |
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Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Back pain, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Short n... |
ORPHA:98863 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Sick Sinus Syndrome 1 |
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Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Sick Sinus Syndrome 4 |
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Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Emery-Dreifuss Muscular Dystrophy |
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Back pain, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Spinal rigidity, Hyper... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Back pain, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Spinal rigidity, Hyper... |
ORPHA:98853 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Tapered finger, Long fingers, Atrioventricular block, Growth delay, Joint contracture of the 5th ... |
OMIM:614407 |
Long Qt Syndrome 9 |
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Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Atrial Fibrillation, Familial, 7 |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Metatropic Dysplasia |
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Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Atrial Standstill |
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Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1E |
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Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Short stature, Coxa... |
OMIM:616716 |
Osteomesopyknosis |
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Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Flexion contracture, Sinus bradycardia, Congenital contracture, Scoliosis, Arthrogryposis multipl... |
OMIM:618397 |
Long Qt Syndrome 5 |
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Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Romano-Ward Syndrome |
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Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Osteochondrosis Of The Metatarsal Bone |
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Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Diastrophic Dysplasia |
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Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Acromesomelic Dysplasia 4 |
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Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
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Dense metaphyseal bands, Osteopenia, Short stature, Small for gestational age, Generalized lipody... |
ORPHA:50811 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Eiken Syndrome |
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Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor... |
ORPHA:79106 |
Congenital Heart Block |
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First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Brugada Syndrome |
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Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1D |
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Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr... |
ORPHA:40 |
Atrial Standstill 1 |
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Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Aapoaiv Amyloidosis |
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Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co... |
ORPHA:439232 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Omphalocele, Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,... |
ORPHA:371428 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Short fourth metatarsal, Short fifth metatarsal, Tricuspid regurgitation, Joint hypermobility, 2-... |
OMIM:261990 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Long Qt Syndrome 10 |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Desminopathy |
|
Thoracic kyphoscoliosis, Supraventricular arrhythmia, Sudden cardiac death, Spinal rigidity, Cong... |
ORPHA:98909 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Atrial Septal Defect, Sinus Venosus Type |
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Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Proteus Syndrome |
|
Kyphoscoliosis, Facial hyperostosis, Spinal canal stenosis, Multiple lipomas, Calvarial hyperosto... |
OMIM:176920 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss |
ORPHA:85447 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Bethlem Myopathy 2 |
|
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Atrophic scars, Scoliosis |
OMIM:616471 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Ck Syndrome |
|
Slender build, Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal di... |
OMIM:300831 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Platyspon... |
OMIM:265900 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617404 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Amelogenesis imperfecta, Short stature, Hyperlordosis, Obesity, Co... |
OMIM:618363 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... |
ORPHA:2204 |
Nestor-Guillermo Progeria Syndrome |
|
Short stature, Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteopo... |
OMIM:614008 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Short stature, Kyphosis, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... |
OMIM:300718 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Third degree atrioventricular block |
ORPHA:480 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis... |
ORPHA:3409 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Congenital Myopathy 24 |
|
Cardiomyopathy, Talipes equinovarus, First degree atrioventricular block |
OMIM:617336 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Short stature, Micromelia, Kyphosis, Limited elbow extension, ... |
OMIM:180870 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Right axis deviation, Short stature, Elevated jugular venous pressure, Conges... |
OMIM:255160 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Hip ... |
ORPHA:2484 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Dec... |
OMIM:259440 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Disproportionate short-trunk short stature, Kyphoscoliosis, Short neck, Irregular, rachitic-like ... |
OMIM:184252 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Lipoatrophy, Kyphosis, Reduced bone mineral density, Vertebral segmentation... |
ORPHA:2617 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Scoliosis, Hype... |
OMIM:618234 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphys... |
ORPHA:95717 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome, Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydac... |
OMIM:140450 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage... |
OMIM:619040 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Spinal rigidi... |
OMIM:613327 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Fail... |
OMIM:618237 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Myocarditis, Disproportion... |
ORPHA:93317 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Abnormal epiphysis morph... |
ORPHA:226313 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... |
OMIM:253200 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... |
ORPHA:75840 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Short stature, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Wide ... |
ORPHA:3098 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s... |
OMIM:609128 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Short stature, Sagittal craniosynostosis, Bowing of the legs... |
OMIM:617063 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of th... |
ORPHA:1486 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Bradycardia, Scoliosis |
OMIM:616276 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Sco... |
OMIM:616756 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short ... |
ORPHA:582 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin... |
OMIM:618484 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sco... |
ORPHA:2181 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop... |
OMIM:253010 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Failure to thrive, Short stature |
OMIM:620007 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... |
ORPHA:1329 |
Grant Syndrome |
|
Bowing of the long bones, Short stature, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:2097 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar... |
OMIM:619638 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Intrauterine growth re... |
ORPHA:48431 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... |
ORPHA:26793 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Short stature, Small for gestational age, Proximal placement of thumb, Congenital d... |
ORPHA:94065 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Obesity, Scoliosis, Decreased body weight |
ORPHA:589821 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Short stature, Small for gestational age, Kyphosis, Scoliosis, Clinodactyly of t... |
OMIM:615834 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Talipes equinovarus, Scoliosis, Hand cle... |
OMIM:611890 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral ep... |
OMIM:252605 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Short neck, Kyphosis, Obesity, Scoliosis, Arrhythmia, Synostosis ... |
ORPHA:3191 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Kyphoscoliosis,... |
OMIM:614856 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Failure to thrive, Bradycardia, Congestive heart failure |
OMIM:619048 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Kyphosis, Flexio... |
OMIM:615547 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Lyme Disease |
|
Arthritis, Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature, Osteoporosis |
ORPHA:2786 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Short stature, Small for gestational age, Kyphosis, Congenital contracture, Join... |
ORPHA:352490 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Small for gestational age, Short neck, Wide distal femoral ... |
OMIM:613320 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest |
OMIM:618235 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... |
ORPHA:75508 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Ulnar dev... |
OMIM:618291 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... |
OMIM:618019 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Short stature, Angina pectoris, Transient ische... |
ORPHA:324 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Avascular necrosis of the capital fe... |
ORPHA:581 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyphosis, Achilles... |
OMIM:620351 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Short neck, Kyphosis, Arthr... |
ORPHA:61 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Inguinal her... |
OMIM:613848 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... |
ORPHA:1354 |
Sialidosis Type 2 |
|
Inguinal hernia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Umbilical hernia |
ORPHA:87876 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco... |
OMIM:615349 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Short toe, Obesity, Keloids, Brachydactyly |
ORPHA:3085 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Telangiectasia of the skin, Kyphosis... |
OMIM:615381 |
Atrophoderma Vermiculata |
|
Heart block, Atrophic scars |
ORPHA:79100 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Congestive heart failure |
ORPHA:796 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypertension, Second degree atrioventricular block, Pulmonary arterial... |
OMIM:617021 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphys... |
ORPHA:95716 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos... |
ORPHA:3082 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617087 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... |
ORPHA:178148 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral... |
ORPHA:175 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis |
ORPHA:505652 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Sinus bradycardia |
OMIM:619482 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... |
ORPHA:1858 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... |
OMIM:610968 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... |
ORPHA:85184 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Limitation of joint mobility, Flexion co... |
ORPHA:1545 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio... |
ORPHA:583 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor... |
ORPHA:3206 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Card... |
OMIM:300280 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300554 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Severe short stature, Abnormal atrioventricular conduction, Proport... |
ORPHA:3208 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Micromelia, Camptodactyly |
OMIM:610015 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short ne... |
ORPHA:254346 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Abnormal d... |
ORPHA:2616 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Bradycardia, Intrauterine growth retardation, Hypertrophic cardiomyopa... |
OMIM:614702 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:94080 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Dista... |
OMIM:108145 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibi... |
OMIM:166220 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent fractures, Intraventricular... |
OMIM:616507 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... |
OMIM:615745 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Sco... |
OMIM:248800 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon... |
OMIM:616294 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Short phalanx of finger, Genu varum, Joint laxity, Short metaca... |
OMIM:615777 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hypoplasia of the femoral head, Sh... |
OMIM:607014 |
Pycnodysostosis |
|
Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mineral density,... |
ORPHA:763 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Aortic regurgitation, Postnatal growth retardation, Hip... |
OMIM:616603 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Inguinal hernia, Growth delay, Bradycardia, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa... |
ORPHA:666 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... |
OMIM:253220 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Severe short stature, Abnormal dental enamel morphology, Joint ... |
ORPHA:1005 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Kyphosis, Split hand, Obesity, Scoliosis |
OMIM:618124 |
Pelger-Huet Anomaly |
|
Failure to thrive, Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical... |
OMIM:169400 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Craniosynostosis, Congestive heart failure, Hypertension, Palpitations, Intr... |
ORPHA:525731 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Short stature, Third degree atrioventricular block |
OMIM:530000 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Inguinal hernia |
OMIM:614498 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, Intrauterine growth... |
OMIM:255200 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Bradycardia, Scoliosis, Prominent calcaneus, Intrauterine growth re... |
ORPHA:565624 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis, Joint stiffness |
ORPHA:1548 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Sho... |
ORPHA:85293 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... |
OMIM:259900 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Wide anterior fontanel, Umbi... |
OMIM:618272 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2050 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... |
OMIM:230600 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Inguinal hernia, Short stature, Camptodactyly of finger, Joint stiffness, K... |
OMIM:607015 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis... |
ORPHA:354 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel morphology, Kyphosis, Pos... |
ORPHA:2916 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Campt... |
ORPHA:2311 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Short stature, Spina... |
OMIM:608328 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Osteopenia, Li... |
OMIM:248370 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... |
OMIM:616914 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Joint hyperflexibility |
ORPHA:319199 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300009 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Hip dislocation, Elbow flexion contracture, Kne... |
ORPHA:70 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Bifid fe... |
ORPHA:2769 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Apl... |
ORPHA:198 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom foot, Short neck, Kyp... |
OMIM:301041 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, Incr... |
ORPHA:800 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Limitation of joint mobility, Small hand, Osteoporosi... |
ORPHA:2796 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation,... |
OMIM:314580 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Bradycardia |
OMIM:614654 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Cranio... |
ORPHA:3219 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal atrioventricular conduction, Scoliosis |
ORPHA:329336 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... |
OMIM:277600 |
Leopard Syndrome 1 |
|
Bundle branch block, Short stature, Kyphoscoliosis, Short neck, Limited elbow movement, Hypertrop... |
OMIM:151100 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Growth delay, Scoliosis... |
ORPHA:238750 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, K... |
OMIM:231070 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Anterior concavity of thoracic verte... |
OMIM:249420 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Short stature, Kyphosis, Small hand, Short foot, Abdominal obesity, Del... |
OMIM:300354 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Sp... |
ORPHA:85451 |
Marden-Walker Syndrome |
|
Inguinal hernia, Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Wide anterio... |
OMIM:248700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Gr... |
OMIM:614653 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Growth delay, Bradycardia, Abnormal epiphysis m... |
ORPHA:90674 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Sinus tachycardia |
ORPHA:171881 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Kyphosis, Congestive heart fa... |
OMIM:230500 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Telangiectases of the cheeks, Short stat... |
ORPHA:576 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... |
OMIM:184253 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... |
ORPHA:140 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphys... |
ORPHA:90673 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Obesity, Scoliosis |
ORPHA:464282 |
Cln3 Disease |
|
T-wave inversion, Bradycardia |
ORPHA:228346 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... |
ORPHA:79102 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Redu... |
ORPHA:2911 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Ventral hernia, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyp... |
ORPHA:536532 |
Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Short foot, Scoliosis, Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip ... |
OMIM:106300 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Wide anterior fontanel, Growth delay, Decreased body weight, Abnormal cortical bon... |
OMIM:614886 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Genu ... |
ORPHA:171436 |
3C Syndrome |
|
Finger syndactyly, Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyph... |
ORPHA:7 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Tapered finger |
OMIM:619255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys... |
ORPHA:93274 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand ... |
ORPHA:261318 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Short stature, Scoliosis |
ORPHA:2471 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Short neck, Overweight, Delayed proximal femoral epiphyseal ossification, Gro... |
ORPHA:226307 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Hernia, Decreased skull ossification, Partial absence of toe, Short statu... |
ORPHA:955 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... |
OMIM:309583 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral... |
OMIM:119600 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Inguinal hernia, Congenital diaphragmatic hernia, Kyph... |
OMIM:609029 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Joint stiffness, Pulmonary embo... |
ORPHA:394 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyp... |
OMIM:619951 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Scoli... |
ORPHA:314588 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone m... |
ORPHA:2522 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Short stature, Kyphosis, Scoliosis, ... |
OMIM:617602 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Scoliosis |
OMIM:617768 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:276621 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthritis, Arthritis... |
OMIM:108300 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Arachnodactyly, Femur fracture, Overlapping toe, Short stature, Long finger... |
OMIM:605822 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Short stature, Premature ventricular contraction |
ORPHA:1964 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... |
ORPHA:3378 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Severe short stature, Small for gestational age, Postnatal g... |
OMIM:133540 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Mitral regurgitation |
OMIM:603387 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Short stature, Failure to thrive in infancy, Kyphosis, Acromicria, Small ... |
OMIM:176270 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Obesity, Genu valgum... |
OMIM:618443 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Weight loss, Syncope, Bradycardia, Abnormality of the cervical spine |
ORPHA:221098 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsu... |
ORPHA:2479 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipes equinovarus, Sco... |
OMIM:181405 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Severe short stature, Short stature, Short neck, Kyphosis, Congestive heart fail... |
OMIM:309900 |
Tetanus |
|
Hypertension, Tachycardia, Stiff neck, Bradycardia |
ORPHA:3299 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Inguinal hernia, Sandal gap, Camptodactyly of finger, Tapered finger, Metat... |
ORPHA:261349 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Severe short stature, Arachnodactyly, Camptodactyly of finger... |
ORPHA:2215 |
D-Glyceric Aciduria |
|
Growth delay, Failure to thrive, Bradycardia |
OMIM:220120 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Hypertension |
OMIM:219080 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Short foot, Growth delay, Scoliosis |
ORPHA:3095 |
Sialidosis Type 1 |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Hernia, Scoliosis |
ORPHA:812 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Hypertension |
OMIM:610475 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scoliosi... |
OMIM:609008 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, ... |
ORPHA:500055 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, S... |
ORPHA:192 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Failure to thrive i... |
ORPHA:193 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Bradycardia, Intrauterine growth retarda... |
OMIM:618775 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... |
ORPHA:221 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Finger... |
OMIM:618493 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Short stature, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Increased bod... |
ORPHA:398069 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Hiatus h... |
OMIM:304150 |
Fucosidosis |
|
Kyphosis, Failure to thrive, Lipoatrophy, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, P... |
ORPHA:77259 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine gr... |
ORPHA:2075 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterin... |
OMIM:617190 |
Bohring-Opitz Syndrome |
|
Short stature, Limitation of joint mobility, Bilateral wrist flexion contracture, Congenital cont... |
ORPHA:97297 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short stature, Short neck, Kyphosis, Keloids, Sclerosis of sku... |
OMIM:130720 |
Refsum Disease |
|
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology |
ORPHA:773 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... |
OMIM:618050 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retarda... |
OMIM:309000 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of... |
ORPHA:2789 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Short stature, Cachexia, ... |
ORPHA:828 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop... |
OMIM:616482 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:29072 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Short stature, Small for gestational age, Portal hyper... |
OMIM:613658 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:702 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pressure, Ventricular fibril... |
ORPHA:358 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Short stature, Kyphosis, Limitation of join... |
OMIM:216400 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Tricuspid regurgitation, Short stature, Short neck, Kypho... |
OMIM:616894 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation, Enamel hypop... |
ORPHA:90322 |
Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Dilated cardiomyopathy, Growth delay, Hypertension, Pulmonary arterial... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Hip dislocation, Short neck |
OMIM:608776 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Raynaud phe... |
ORPHA:1855 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shou... |
ORPHA:568 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hip dislocat... |
OMIM:610443 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Postnatal growth retardation, Hemivertebrae... |
OMIM:301040 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Hypertension, Abdominal obesity, Biconcave vertebral bodies, Ver... |
OMIM:219090 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Bradycardia, Hypotension |
ORPHA:391673 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Scoliosis |
ORPHA:261190 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility |
OMIM:614898 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Congenital diaphragmatic he... |
ORPHA:280 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal fo... |
ORPHA:3042 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 t... |
ORPHA:464738 |
Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Reflex asystolic syncope, Arrhythmia, Failure to thrive, Brachyd... |
ORPHA:79329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Talipes cavus equi... |
OMIM:300966 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Short stature, Increased intervertebral space, Broad isc... |
OMIM:619727 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Hypertension |
OMIM:610489 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Multiple joint contractures,... |
ORPHA:464306 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Cuboid-shaped vertebral bodies, Slender long bone, Polydac... |
OMIM:612731 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Bradycardia |
OMIM:608800 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Short stature, Kyphosis, Hip... |
ORPHA:96169 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contra... |
OMIM:212065 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight |
ORPHA:90051 |
Alstrom Syndrome |
|
Short stature, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hyperost... |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Failure to thrive, Small for gestational age, Ankle flexion contracture, Ta... |
ORPHA:464311 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostosis of carpal b... |
ORPHA:1507 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly... |
ORPHA:521426 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99226 |
Heart Block, Congenital |
|
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... |
OMIM:234700 |
Cowden Syndrome |
|
Short stature, Kyphosis, Bone cyst, Scoliosis, Lipoma, Mucosal telangiectasiae, Failure to thrive... |
ORPHA:201 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Dilated cardiomyopathy, Osteoporosis, Growth delay, Bradycardia, M... |
ORPHA:79404 |
Marfan Syndrome |
|
Osteopenia, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited e... |
ORPHA:558 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... |
OMIM:617061 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi... |
OMIM:617988 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Joint hyper... |
OMIM:619718 |
Aspartylglucosaminuria |
|
Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior bea... |
ORPHA:93 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, 2-3 toe syndactyly, Scoliosis, Pulmonary arterial hypertension |
OMIM:616449 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st... |
ORPHA:476126 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Short stature, Kyphosis, Scoliosis, Slender build |
ORPHA:364028 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Growth delay, Triphalangeal thumb, Dela... |
ORPHA:2232 |
Alexander Disease |
|
Osteopenia, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Hypertension, Scoliosis, H... |
ORPHA:58 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... |
ORPHA:404440 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Short stature, Short neck, Kyphosis, Hypertrophic cardiomyopathy, Pulmonic ... |
OMIM:619745 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Primary Hyperoxaluria |
|
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... |
ORPHA:416 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join... |
OMIM:617527 |
Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adduct... |
ORPHA:2461 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Short stature, Kyphosis, Wide anterior f... |
OMIM:278250 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insuffic... |
OMIM:614437 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Short stature, Kyphosis, Wide anterior fontanel, Lo... |
ORPHA:401973 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Weight loss, Second degree atr... |
ORPHA:3385 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodacty... |
ORPHA:744 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Short ... |
OMIM:303600 |
Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Pseudoe... |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Ver... |
ORPHA:373 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Kyphosis, Increased femoral anteversion, Scoliosis, Decreased b... |
OMIM:619005 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Recurrent fractures, Kyphosis, Osteoporo... |
ORPHA:3063 |
Zttk Syndrome |
|
Aortic regurgitation, Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebr... |
OMIM:617140 |
Encephalitis Lethargica |
|
Stiff neck, Bradycardia |
ORPHA:83600 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Inguinal hernia, Radial deviation of finger |
OMIM:609944 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Short stature, Kyphosis, Long fingers, 2-3 toe synd... |
OMIM:300960 |
Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Mu... |
ORPHA:636 |
Monosomy 9Q22.3 |
|
Short neck, Large for gestational age, Kyphosis, Joint hyperflexibility, Abnormality of the verte... |
ORPHA:77301 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur... |
OMIM:619194 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Small for gestation... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Small for gestation... |
ORPHA:363958 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Stiff neck, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis... |
ORPHA:99827 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia, Obesity |
ORPHA:91355 |
Cowden Syndrome 5 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis |
OMIM:615108 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Abnormal form of the ve... |
ORPHA:818 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Hip dysplasia, Mitral regurgitatio... |
ORPHA:261250 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Cowden Syndrome 6 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis |
OMIM:615109 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Micro Syndrome |
|
Short stature, Joint stiffness, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retarda... |
ORPHA:2510 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Short stature, Abnormal dental enamel morphology, Osteomalacia, Recurrent fractu... |
ORPHA:534 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavicle, Kyphosis, Wide anterior ... |
ORPHA:85199 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio... |
OMIM:603116 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Sacral dimple, Inguinal hernia, Short stature, Small for ges... |
ORPHA:268261 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Scimitar Syndrome |
|
Left-to-right shunt, Heart block, Congestive heart failure, Abnormality of the vertebral column, ... |
ORPHA:185 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Umbilical hernia, Bradycardia |
OMIM:218700 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Scoliosis |
ORPHA:261144 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Arrhythmia, Cellulitis |
OMIM:153400 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Telangiectasia of the skin, Bowing of the legs, Kyphosis, Osteoporosis... |
ORPHA:97685 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... |
OMIM:177850 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral ... |
OMIM:162300 |
Williams Syndrome |
|
Osteopenia, Myocardial infarction, Abnormal form of the vertebral bodies, Vertebral segmentation ... |
ORPHA:904 |
Cowden Syndrome 1 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis |
OMIM:158350 |
Marburg Hemorrhagic Fever |
|
Back pain, Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrh... |
ORPHA:99826 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Severe short stature, Cachexia, Postnatal growth retardation... |
ORPHA:191 |
Aspartylglucosaminuria |
|
Joint laxity, Short stature, Kyphosis, Platyspondyly, Mitral regurgitation, Spondylolysis, Scolio... |
OMIM:208400 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Clinodactyly of the 5th finger... |
OMIM:135900 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture |
OMIM:619708 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Large hands, Sc... |
OMIM:617011 |
Steinert Myotonic Dystrophy |
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Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Primrose Syndrome |
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Hip contracture, Short stature, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contr... |
OMIM:259050 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
1P36 Deletion Syndrome |
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Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Dilated cardiomyopathy, Spinal... |
ORPHA:1606 |
3-Methylglutaconic Aciduria, Type Viii |
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Growth delay, Failure to thrive, Bradycardia |
OMIM:617248 |
Atelis Syndrome 2 |
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Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, ... |
OMIM:620185 |
Cockayne Syndrome Type 3 |
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Mild postnatal growth retardation, Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal he... |
ORPHA:90324 |
Ramon Syndrome |
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Short stature, Kyphosis, Telangiectasia, Scoliosis, Decreased body weight, Juvenile rheumatoid ar... |
OMIM:266270 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Severe short stature, Camptodactyl... |
ORPHA:2273 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Joint laxity, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Kypho... |
OMIM:300967 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Heart block, Cardiomyopathy, Arrhythmia |
ORPHA:228308 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Ky... |
ORPHA:457359 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Scarring, Portal hypertension, Heart block, Bone cyst, Ven... |
ORPHA:797 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Joint laxity, Aortic regurgitation, Osteomyelitis, Failure to thrive, Overweight, Kyph... |
OMIM:619475 |
Yellow Fever |
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Shock, Low back pain, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left vent... |
ORPHA:99829 |
Autosomal Recessive Ataxia, Beauce Type |
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Kyphosis, Scoliosis |
ORPHA:88644 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Kyphosis, Scoliosis |
OMIM:211530 |
Postencephalitic Parkinsonism |
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Kyphosis, Camptocormia |
ORPHA:97349 |
Triosephosphate Isomerase Deficiency |
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Kyphosis, Failure to thrive, Congestive heart failure |
OMIM:615512 |
Cerebrocostomandibular Syndrome |
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Short stature, Tracheomalacia, Kyphosis, Clinodactyly of the 5th finger, Intrauterine growth reta... |
ORPHA:1393 |
Acromegaly |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, Mitr... |
ORPHA:963 |
Somatomammotropinoma |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, Mitr... |
ORPHA:314769 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis |
OMIM:619244 |
Viss Syndrome |
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Long toe, Joint laxity, Inguinal hernia, Epidural hemorrhage, Arachnodactyly, Rocker bottom foot,... |
OMIM:619472 |
Branchiooculofacial Syndrome |
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Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... |
OMIM:113620 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis |
OMIM:300942 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Sacrococcygeal teratoma, Inguinal hernia, Ankle flexion contractur... |
ORPHA:821 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis |
ORPHA:171629 |
Alström Syndrome |
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Thoracic scoliosis, Dorsocervical fat pad, Short stature, Portal hypertension, Kyphosis, Short to... |
ORPHA:64 |