| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis, Complete dupl... |
ORPHA:1879 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Arrhythm... |
OMIM:618453 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o... |
OMIM:168400 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Short femoral neck, Kyphosis, Short stature, Small for gestational age, De... |
OMIM:618392 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Spinal rigidity, Elbow flexion ... |
OMIM:181350 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contract... |
ORPHA:98855 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... |
ORPHA:392 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contract... |
ORPHA:98863 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contract... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contract... |
ORPHA:98853 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Clinodactyly of the 5th finger, Failure to thrive, Atrioventricular block, Joint ... |
OMIM:614407 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportiona... |
OMIM:156530 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Atrial Standstill |
|
Flexion contracture, Right bundle branch block, Ischemic stroke, Mobitz I atrioventricular block,... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Kyphosis, Abnormality of the epiphysis... |
ORPHA:2114 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... |
ORPHA:2635 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Contractures of the large joints, Metaphyseal cupping, Coxa vara, Short... |
OMIM:616716 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, Flattened met... |
ORPHA:564003 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Scoliosis, Intrauterine growth retardation, Joint contracture, Arthrogryposi... |
OMIM:618397 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender long bones with narrow diaphyses, Short stature, Small for gestational age, Failure to th... |
ORPHA:50811 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... |
ORPHA:3344 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Short long bone, Small for gestational age, Cervical kyphosis, Shor... |
OMIM:222600 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Back pain, Abnormal cardiac ventricular function, Hyp... |
ORPHA:439232 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Short n... |
OMIM:613330 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... |
ORPHA:40 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
2-3 toe syndactyly, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Joint hypermobility... |
OMIM:261990 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Spinal rigidity, Supraventricular a... |
ORPHA:98909 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Short stature,... |
OMIM:619795 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
| Caffey Disease |
|
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Scoliosis, Calvari... |
ORPHA:1310 |
| Proteus Syndrome |
|
Multiple lipomas, Thin bony cortex, Spinal canal stenosis, Facial hyperostosis, Kyphoscoliosis, L... |
OMIM:176920 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis involving ta... |
OMIM:277950 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis... |
ORPHA:970 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia |
ORPHA:85447 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Kyphosis, Hyp... |
OMIM:313420 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Upper limb undergrowth, Short foot, Short stature, Abnormal cortical b... |
ORPHA:166277 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Increased susceptibility to fractures, Hallux valgus, Kyphosis, Atrophic scars, Joint laxity, Con... |
OMIM:130060 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... |
OMIM:604169 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... |
OMIM:609813 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Intrauterine growth retardation, Brac... |
OMIM:234250 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Bethlem Myopathy 2 |
|
Flexion contracture, Kyphosis, Atrophic scars, Hip dislocation, Scoliosis, Distal joint laxity |
OMIM:616471 |
| Pyle Disease |
|
Thin bony cortex, Genu valgum, Platyspondyly, Scoliosis, Limited elbow extension, Metaphyseal dys... |
OMIM:265900 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Increased adipose tissue, Kyphosis, Short stature, Spinal rigidity, Scoliosis |
OMIM:617404 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Ck Syndrome |
|
Hyperlordosis, Kyphosis, Abnormal cortical bone morphology, Joint hypermobility, Scoliosis, Abnor... |
OMIM:300831 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Clubbing of fingers, Palpitations, Abnormal P wave, Tricuspid regurgitatio... |
ORPHA:99106 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Flattened epiphysis, Amelogenesis imperfecta, ... |
OMIM:618363 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Flexion contracture, Right bundle branch block, Limited elbow mo... |
OMIM:614008 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... |
OMIM:616201 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Dilated cardiomyopathy, Short neck... |
OMIM:300718 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Progressive intervertebral space narrowing |
ORPHA:480 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Kyphosis, Short foot, Toe syndactyly, Short stature... |
ORPHA:3409 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Kyphosis, Increased b... |
ORPHA:628 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro... |
OMIM:271630 |
| Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Sc... |
OMIM:600175 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Short stature, Abnormal cortical bone morphology, Abnormality of ... |
ORPHA:2204 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
| Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... |
OMIM:618658 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Short stature, Craniofacial hyperost... |
ORPHA:2484 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Hypoplastic ilia, Abnormal metaphysis morphology, Short st... |
ORPHA:93359 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Short stature, Sinus tachycardia, Elevated jugul... |
OMIM:255160 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Short stature, Congenital bilateral hip dislocation, Kyphosis |
ORPHA:85288 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Short toe, Tapered finger, Kyphosis, Short stature, Shortenin... |
OMIM:301900 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Severe short stature... |
OMIM:112350 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Coxa vara, Elbow flexion contracture, Hypoplasia of the odon... |
OMIM:184252 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Spinal rigidity, Joint hypermobility, Scoliosis |
OMIM:618323 |
| Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Dentinogenesis imperfecta, Biconcave vertebral bodies, Bowing of... |
OMIM:259420 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Severe short stature, Scoliosis, Shagreen patch, Lipoatr... |
ORPHA:2617 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Kyphosis, Short metacarpal, Small hand, Short stature, Ingui... |
OMIM:180870 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Failure to thrive, Hypertroph... |
OMIM:618234 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Absent ossification of capital femoral epiphysis, Abnormal epiphysis m... |
ORPHA:226313 |
| Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95717 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Sick sinus syndrome, Brachydac... |
OMIM:140450 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Arthrogryposis multiplex congenita, Scoliosis, Plat... |
ORPHA:2771 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Kyphosis, Elbow flexion contracture, Flexion con... |
OMIM:619040 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... |
OMIM:115197 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Short metacarpal, Arrhythmia, Disproportionate ... |
ORPHA:93317 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Flexion contracture, Spinal rigidity, Lipodystrophy, Failure to thrive, Prolonged ... |
OMIM:613327 |
| Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Sinus tachycardia, Flared iliac wing, Anterior wedgi... |
OMIM:253200 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growt... |
OMIM:618237 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
First degree atrioventricular block, Cardiomyopathy |
OMIM:617336 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Kyphosis, Short stature, Hip dislocation, Scoliosis, Short foot |
OMIM:300434 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased ... |
ORPHA:75840 |
| Meier-Gorlin Syndrome 7 |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Preaxial hand polydactyly, Decreased body weight, ... |
OMIM:617063 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... |
ORPHA:45452 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... |
OMIM:313400 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, Wide anterior fontanel, Kyphosis, Rhizomelia, Sho... |
ORPHA:3098 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Slender long bone, Abnormal cortical bone morphology, Limitat... |
ORPHA:1486 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Hernia, Coxa valga, Kyphosis, Short stature, Grayish enamel, Spinal c... |
ORPHA:582 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis, Intrauterine growth retardation |
OMIM:616276 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Metacarpal osteolysis, Thin metacarpal cortices, Pro... |
OMIM:259600 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
| Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... |
ORPHA:536516 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Broad femoral neck, Irregular vertebral endplat... |
OMIM:612350 |
| Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long toe, Osteopenia, Arachnodactyly, Long fingers, Po... |
OMIM:619489 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Aortic regurgitation, Adducted thumb, Joint hyperflexibility, Sco... |
ORPHA:2181 |
| Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... |
OMIM:607326 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Disproportionate ... |
ORPHA:94068 |
| Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... |
OMIM:609128 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Thoracic kyphosis, Femo... |
OMIM:619638 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia... |
ORPHA:26793 |
| Grant Syndrome |
|
Short stature, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelv... |
ORPHA:2097 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Short stature, Scoliosis, I... |
ORPHA:48431 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Short stature, Hip dislocation, Scoliosis, Obesity, Lumbar hyperlordosis |
OMIM:616756 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Short stature, Kyphosis, Hip dysplasia |
OMIM:620007 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Camptodactyly, Short neck, Arthrogryposis multiplex congenita, Rocker bottom foot |
OMIM:618393 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... |
OMIM:253000 |
| Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
| 15Q24 Microdeletion Syndrome |
|
Hernia, Small hand, Kyphosis, Short stature, Small for gestational age, Clinodactyly, Joint laxit... |
ORPHA:94065 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Short stature, Kyphosis, Scoliosis, Obesity |
ORPHA:276630 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
| Gorham-Stout Disease |
|
Abnormal bone ossification, Abnormality of the cervical spine, Osteomyelitis, Abnormal finger mor... |
ORPHA:73 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased body weight, Bundle branch block, Scoliosis, Obesity, First degree atrioventricular block |
ORPHA:589821 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... |
OMIM:608940 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Short stature, Small for gestational age, Clinodactyly of the 5th finger, Inguinal hern... |
OMIM:615834 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormal metacarpal morphology, Clinodactyly of the 5th finger... |
ORPHA:137834 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... |
OMIM:252605 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Hip dysplasia, Achilles tendo... |
OMIM:615290 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short stature, Synostosis of carpal bones, Inguinal hernia, Short neck, Scoliosis, Arrh... |
ORPHA:3191 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Arachnodactyly, Decreased body weight, Recurrent fractures, Wide dista... |
OMIM:614856 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Bradycardia, Congestive heart failure, Intrauterine growth retardation |
OMIM:619048 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Kyphosis, Small for gestational age, Adducted thumb, Flexion contracture of ... |
OMIM:618484 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Limited elbow movement, Joint contracture of the hand, Kyphosis, Hallux valgus, Dislocation of to... |
OMIM:300280 |
| Lyme Disease |
|
Arthritis, Atrioventricular block, Arrhythmia |
ORPHA:91546 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiph... |
OMIM:264700 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... |
OMIM:617952 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiph... |
OMIM:277440 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Osteoporosis, Kyphosis, Platyspondyly |
ORPHA:2786 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Abnormality of the calcaneus, Aplasia/hypoplasia involving b... |
ORPHA:40366 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Achondroplasia |
|
Short proximal phalanx of finger, Limited elbow extension, Narrow greater sciatic notch, Lumbar h... |
ORPHA:15 |
| Cranio-Osteoarthropathy |
|
Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormality of tibia morphology, ... |
ORPHA:1525 |
| Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of joint mobil... |
ORPHA:3454 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Kyphosis, Small for gestational age, Short stature, Inguinal herni... |
ORPHA:352490 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Tapered finger, Short foot, Kyphosis, Small hand, Short stature, Clinodactyl... |
OMIM:615547 |
| Camurati-Engelmann Disease |
|
Coxa valga, Cachexia, Cortical thickening of long bone diaphyses, Hypertrophic cardiomyopathy, Sl... |
ORPHA:1328 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Myocarditis, Reduced left ventricular ejection ... |
ORPHA:563 |
| Mucopolysaccharidosis Type 3 |
|
Increased susceptibility to fractures, Genu valgum, Flexion contracture, Avascular necrosis of th... |
ORPHA:581 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis |
OMIM:174810 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Hip dysplasia, Short neck, Scoliosis, Arthrogryposis multiplex congenita, Rocker bottom... |
OMIM:611890 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Thin bony cortex, Increased susceptibility to fractures, Genu varum, Short sta... |
ORPHA:289157 |
| Fabry Disease |
|
Mucosal telangiectasiae, Short stature, Transient ischemic attack, Bundle branch block, Telangiec... |
ORPHA:324 |
| Alpha-Mannosidosis |
|
Kyphosis, Arthritis, Hypoplastic inferior ilia, Hip dysplasia, Craniofacial hyperostosis, Synosto... |
ORPHA:61 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperlordosis, Kyphosis, Keloids, Short stature, Brachydactyly, Obesity |
ORPHA:3085 |
| Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95716 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:241530 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal metaphys... |
ORPHA:1354 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Scoliosis, Telangiectasia ... |
OMIM:615381 |
| Sandhoff Disease |
|
Failure to thrive, Congestive heart failure, Kyphosis |
ORPHA:796 |
| Atrophoderma Vermiculata |
|
Atrophic scars, Heart block |
ORPHA:79100 |
| Masa Syndrome |
|
Adducted thumb, Hyperlordosis, Short stature, Kyphosis |
OMIM:303350 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Increased susceptibility to fractures, Pro... |
OMIM:610968 |
| Sialidosis Type 2 |
|
Flexion contracture, Kyphosis, Short stature, Inguinal hernia, Osteoporosis, Umbilical hernia |
ORPHA:87876 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasi... |
ORPHA:3082 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short neck, A... |
OMIM:611717 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Kyphosis, Clinodactyly, Short neck, Scoliosis, Arthrogryposis multiplex cong... |
ORPHA:178148 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid vertebral bodies, Limited elbow extensio... |
OMIM:618019 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Sinus bradycardia |
OMIM:619482 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Thin bony cortex, Genu valgum, Generalized joint laxity, Rhizomelia, S... |
OMIM:613848 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Kyphosis, Short stature, Hip dysplasia, Scoliosis, Brachydactyly, Short d... |
ORPHA:1858 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Bowing of the long bones, Advanced ossification of carpal ... |
OMIM:615349 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Small hand, Kyphosis, Short metacarpal, Synostosis of carpal bones, Clinod... |
ORPHA:3121 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Growth delay, Scoliosis |
ORPHA:505652 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Hernia, Hip dislocation, Aortic regurgitation, Adducted thumb, Osteopenia, Intrauterine growth re... |
OMIM:616603 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Flexion contracture, Kyphosis, Limitation of joint... |
ORPHA:1545 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Short phalanx of finger, Shoulder dislocation, Flexion contracture, Devi... |
OMIM:143095 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Flexion contracture, Multiple joint contractures, Kyphosis, Hip dislocation, Spina... |
OMIM:618291 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Hernia, Kyphosis, Epiphyseal dysplasia, Failure to thrive, Short neck, Ovoid vertebr... |
ORPHA:583 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... |
ORPHA:1798 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, First degree atrioventricular block, Atrial fibrillation |
OMIM:160900 |
| Cartilage-Hair Hypoplasia |
|
Heart block, Abnormal distal phalanx morphology of finger, Short neck, Metaphyseal chondrodysplas... |
ORPHA:175 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Increased facial adipose tissue, Acroosteolysis ... |
ORPHA:280365 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Kyphosis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Aor... |
ORPHA:254346 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Short stature, ... |
OMIM:253220 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Short stature, Flared ili... |
OMIM:230650 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Weight loss, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,... |
ORPHA:3208 |
| Atrial Standstill 2 |
|
Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wav... |
OMIM:615745 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Abnormal metaphysis morphology, Osteopetrosis, Short palm, Crania... |
ORPHA:2658 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Short stature, Increased bone mineral density, Short humerus, Anky... |
OMIM:239000 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology, Growth delay, Short stature |
ORPHA:2512 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy, Bradycardia, Intrauter... |
OMIM:614702 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... |
OMIM:166220 |
| 3M Syndrome |
|
Hyperlordosis, Increased vertebral height, Hypoplastic pubic bone, Kyphosis, Short stature, Slend... |
ORPHA:2616 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Flexion contracture, Camptodactyly |
OMIM:610015 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Abnormality of tibia morphology, Scoliosis, Lipoatrophy |
ORPHA:64755 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:94080 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis... |
OMIM:616294 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Sacral dimple, Flexion contracture, Genu valgu... |
ORPHA:3206 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Coxa valga, Kyphosis, Short metacarpal, Short stature, Failure to thrive, Sc... |
OMIM:248800 |
| Hurler Syndrome |
|
Flexion contracture, Coxa valga, Flared iliac wing, Hypoplasia of the femoral head, Short neck, C... |
OMIM:607014 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
| Timothy Syndrome |
|
Syndactyly, Prolonged QT interval, Bradycardia, Cutaneous syndactyly |
OMIM:601005 |
| Arthrogryposis, Distal, Type 5 |
|
Absent phalangeal crease, Congenital finger flexion contractures, Distal arthrogryposis, Limited ... |
OMIM:108145 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Growth delay, Bradycardia |
OMIM:619272 |
| Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Congestive heart failure, Hypertension, Failure to thrive, Palpitations, Crani... |
ORPHA:525731 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Kyphosis, Vertebral segmentation defect, Synostosis of carpal bones, Hip dislo... |
ORPHA:1005 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Coxa vara, Short stature, Rickets of the lower limbs, Enthesitis, Increased bone mine... |
ORPHA:289176 |
| Atkin-Flaitz Syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Short stature, Joint laxity, Scoliosis, Short palm, Obesity |
OMIM:300431 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Coxa vara, Hypoplasia of the od... |
OMIM:183900 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteolysis, Fibrous dysplasia of the bones, Osteomalacia, Abnormality of the hu... |
ORPHA:249 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Kyphosis, Failur... |
OMIM:169400 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Dislocated radial head, Abnormal metaphysis morphology, Abnormal form of the... |
ORPHA:666 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Short stature, Arrhythmia |
OMIM:530000 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Clinodacty... |
ORPHA:2710 |
| Pycnodysostosis |
|
Increased bone mineral density, Hypoplastic iliac wing, Increased susceptibility to fractures, Di... |
ORPHA:763 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Kyphosis, Split hand, Scoliosis, Obesity |
OMIM:618124 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Bradycardia, Joint contracture |
OMIM:614498 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Weight loss, Arthritis, Congestive heart failure, Dilated c... |
ORPHA:732 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Scoliosis, Kyphosis, Arachnodactyly |
ORPHA:1548 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased laxity of fingers, Spinal ... |
OMIM:254090 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Short stature, Scoliosis, Joint hyperflexibil... |
ORPHA:2050 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Short foot, Kyphosis, Small hand, Toe syndactyly, Short stature, Cachexi... |
ORPHA:85293 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Cardiomyopathy, Abnormal left ventricular function, Heart block |
ORPHA:98912 |
| Hyperoxaluria, Primary, Type I |
|
Arterial occlusion, Increased bone mineral density, Raynaud phenomenon, Intermittent claudication... |
OMIM:259900 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Wide anterior fontanel, Kyphosis, Large for gestational age, Inguinal hernia, Umbi... |
OMIM:618272 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Kyphosis, Short stature, Aortic regurgi... |
OMIM:607015 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Short stature, Scoliosis, Joint contracture of the 5th finger,... |
ORPHA:1883 |
| Sjögren-Larsson Syndrome |
|
Short stature, Kyphosis, Scoliosis, Joint stiffness, Abnormal dental enamel morphology |
ORPHA:816 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Short stature, Vaginal hernia, Clinodactyly of the 5th finger, Hypopl... |
ORPHA:2916 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Prominent calcaneus, Scoliosis, Bradycardia, Intrauterine growth re... |
ORPHA:565624 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, Coxa valga, Acroosteolysis of distal phalan... |
OMIM:248370 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Finger syndactyly, Kyphosis, Short stature, Vertebral segmentation defec... |
ORPHA:2311 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
| Hypomelanosis Of Ito |
|
Kyphosis, Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger, Scoliosis |
OMIM:300337 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... |
ORPHA:330001 |
| Thanatophoric Dysplasia |
|
Kyphosis, Hip dysplasia, Brachydactyly, Disproportionate short-limb short stature, Joint hyperfle... |
ORPHA:2655 |
| Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Elbow flexion contracture, Proportionate short stature, Flexion contracture of ... |
OMIM:608328 |
| Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Thoracic kyphosis, El... |
ORPHA:70 |
| Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
| Clark-Baraitser syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Joint laxity, Scoliosis, Short palm, Obesity |
OMIM:300602 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Weight loss, Kyphosis, Short stature, Coarse metaphyseal ... |
ORPHA:354 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Hyperextensibility of the finger joints, Reduced subcutaneous adipose tissue, Hypertens... |
OMIM:616914 |
| Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Coxa valga, Hypoplastic vertebral bodies, Failure to thrive, Scoliosis, Platysp... |
OMIM:230600 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses of the metacarpals,... |
OMIM:210720 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Intrauterine growth retardation |
OMIM:614654 |
| Brachyolmia Type 3 |
|
Short femoral neck, Kyphosis, Childhood-onset short-trunk short stature, Clinodactyly, Proximal f... |
OMIM:113500 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
| Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Osteolysis, Short palm, Aplasia/hypoplas... |
ORPHA:198 |
| Pachydermoperiostosis |
|
Genu varum, Osteomyelitis, Small hand, Arthritis, Abnormal cortical bone morphology, Clubbing of ... |
ORPHA:2796 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Decreased body weigh... |
OMIM:271640 |
| Leopard Syndrome 1 |
|
Third degree atrioventricular block, Limited elbow movement, Short stature, Bundle branch block, ... |
OMIM:151100 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Joint hyperflexibility, Kyphosis |
ORPHA:319199 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Scoliosis, Cardiomyopathy |
ORPHA:329336 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Sandal gap, Postaxial polydactyly, Broad dista... |
OMIM:615761 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:255200 |
| O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Kyphosis |
OMIM:618512 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Spinal cana... |
ORPHA:85451 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ... |
ORPHA:369929 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Broad phalanges of the hand, Short stature, Spinal canal stenosis, Broad metata... |
OMIM:277600 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Cap Myopathy |
|
Sinus tachycardia, Thoracic scoliosis, Reduced systolic function, Lumbar hyperlordosis |
ORPHA:171881 |
| Fountain Syndrome |
|
Kyphosis, Short stature, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnorma... |
ORPHA:3219 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Congenital foot contractures, Kyphosis, Short stature, Camptodactyly, Hip dislocat... |
OMIM:314580 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Failure to thrive, Growth delay, Abnormal epiph... |
ORPHA:90674 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Decreased body weight, Coxa valga, Increased bone m... |
ORPHA:800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Kyphosis, Short stature, Joint laxity, Delayed puberty, Sandal gap, Brachydactyly, Sh... |
OMIM:300354 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
| Gm1-Gangliosidosis, Type I |
|
Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypoplastic vertebral bodies, Inguina... |
OMIM:230500 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Kyphosis, Hypoplasia of the radius, Butterfly vertebrae, Hip dislocation, Intr... |
ORPHA:958 |
| Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Bone cyst, Joint stiffness |
ORPHA:2047 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Flexion contracture, Hip contracture, Kyphosis, Short stature, Achilles tendon contracture, Hip d... |
OMIM:301041 |
| Marden-Walker Syndrome |
|
Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Camptodactyly, Radioulnar synost... |
OMIM:248700 |
| 4Q21 Microdeletion Syndrome |
|
Short foot, Kyphosis, Small hand, Toe syndactyly, Short neck, Scoliosis, Growth delay, Short palm... |
ORPHA:238750 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis, Truncal obesity |
ORPHA:2429 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Wide anterior fontanel, Kyphosis, Short long bone, Anterior concavity of... |
OMIM:249420 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Severe platyspondyly, Elbow flexion contracture, Aplasia/hypoplasia invo... |
ORPHA:508533 |
| Illum Syndrome |
|
Bradycardia, Arthrogryposis multiplex congenita |
OMIM:208155 |
| Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Kyphosis, Hypoplastic ilia, Short femur, Femoral bowing, Brachydactyly, A... |
ORPHA:1860 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Kyphosis, Hip osteoarthritis, Enthesitis, Aortic... |
OMIM:106300 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Dysplast... |
OMIM:265000 |
| Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Weight loss, Shortened PR interval, Prolonged QT interval, Pal... |
ORPHA:79102 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Cln3 Disease |
|
T-wave inversion, Bradycardia |
ORPHA:228346 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Short tubular bones of the hand, Coxa vara, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Hallux valgus, Hyperextensibility of the finger joints, Kyphosis, Atrophic scars, ... |
OMIM:617821 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Short stature, Hip dislocation, Scoliosis, Absent pubertal growth spurt, Obesity |
ORPHA:464282 |
| Poland Syndrome |
|
Spina bifida occulta, Short neck, Absent hand, Absence of subcutaneous fat, Reduced bone mineral ... |
ORPHA:2911 |
| Rett Syndrome |
|
Abnormal T-wave, Kyphosis, Short stature, Cachexia, Scoliosis, Short foot, Prolonged QTc interval |
OMIM:312750 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:90673 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased body weight, Wide anterior fontanel, Short stature, Abnormal cortical bone morphology, ... |
OMIM:614886 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Kyphosis |
ORPHA:1875 |
| Mucolipidosis Type Ii |
|
Hip dislocation, Telangiectases of the cheeks, Postnatal growth retardation, Pulmonary insufficie... |
ORPHA:576 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Widened atrophic scar, Shoulder dislocation, Ventral hernia, Hallux valgus, Kyphos... |
ORPHA:536532 |
| 3C Syndrome |
|
Finger syndactyly, Kyphosis, Short stature, Hand polydactyly, Abnormal hip bone morphology, Ingui... |
ORPHA:7 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Kyphosis, Spina bifida occulta, Short neck, Reduced bone mineral density |
ORPHA:2983 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Recurrent fractures, Kyphosis, Short long bone, Short stature, Hypoplastic... |
ORPHA:140 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Short neck, Ectrodactyly, Short palm, Ab... |
ORPHA:251014 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Genu valgum, Flexion contracture, Genu varum, Kyphosis, Spinal rigidity, Hip dislo... |
ORPHA:171436 |
| Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Hernia, Finger syndactyly, Kyphosis, Vertebra... |
ORPHA:261318 |
| Mcdonough Syndrome |
|
Short stature, Cachexia, Scoliosis, Kyphosis |
ORPHA:2471 |
| Baralle-Macken Syndrome |
|
Obesity, Tapered finger, Kyphosis |
OMIM:619255 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Kyphosis, Congenital hip dislocation, Scoliosis, Disloca... |
OMIM:619797 |
| Hajdu-Cheney Syndrome |
|
Osteolysis, Short neck, Short toe, Recurrent fractures, Partial absence of toe, Delayed puberty, ... |
ORPHA:955 |
| Harrod Syndrome |
|
Kyphosis, Abnormal pelvic girdle bone morphology, Failure to thrive, Joint hyperflexibility, Scol... |
ORPHA:2115 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Delayed puberty, Scoliosis, Kyphosis |
ORPHA:2598 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Hypoplas... |
OMIM:119600 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, G... |
OMIM:614653 |
| Marshall-Smith Syndrome |
|
Decreased body weight, Hallux valgus, Atlantoaxial dislocation, Slender finger, Short sternum, Re... |
OMIM:602535 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed proximal femoral epiphyseal ossification, Short finger, Hand polydactyly, Short neck, Pit... |
ORPHA:226307 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Short neck, Abnormal hip bone m... |
ORPHA:2522 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Short stature, Limitation of joint mobility, Brachydactyly, Joint hyperflexibility, Pla... |
ORPHA:93274 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
| Classic Homocystinuria |
|
Pulmonary embolism, Genu valgum, Hernia, Recurrent fractures, Cerebral ischemia, Kyphosis, Intrac... |
ORPHA:394 |
| Lopes-Maciel-Rodan Syndrome |
|
Small hand, Short foot, Scoliosis, Kyphosis |
OMIM:617435 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... |
OMIM:620066 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Osteoporosis, Kyphosis, Recurrent fractures |
ORPHA:85193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Short stature, Lo... |
OMIM:309583 |
| Emanuel Syndrome |
|
Sacral dimple, Kyphosis, Inguinal hernia, Congenital diaphragmatic hernia, Failure to thrive, Con... |
OMIM:609029 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Joint hypermobility, Cong... |
OMIM:617602 |
| Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... |
OMIM:277590 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Distal Tetrasomy 15Q |
|
Flexion contracture, Hernia, Kyphosis, Camptodactyly, Large for gestational age, Scoliosis, Arach... |
ORPHA:314588 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Kyphosis, Arthritis, Joint stiffness, Joint hypermobility, Spondylolisthesis, Sco... |
OMIM:108300 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Hallux valgus, Kyphosis, 3-4 finger cutaneous syndac... |
OMIM:619951 |
| Spondyloocular Syndrome |
|
Thin bony cortex, Arachnodactyly, Decreased body weight, Short stature, Overlapping toe, Osteopen... |
OMIM:605822 |
| Kleefstra Syndrome 2 |
|
Growth delay, Scoliosis, Kyphosis |
OMIM:617768 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:276621 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal scle... |
OMIM:618476 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, E... |
ORPHA:420794 |
| Trisomy 13 |
|
Hernia, Kyphosis, Abnormal pelvic girdle bone morphology, Scoliosis, Postaxial hand polydactyly, ... |
ORPHA:3378 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
| Cockayne Syndrome B |
|
Hypoplastic iliac wing, Kyphosis, Small for gestational age, Reduced subcutaneous adipose tissue,... |
OMIM:133540 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Genu valgum, Short 5th finger, Short foot, Kyphosis, Smal... |
OMIM:618443 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Short stature, Heart block |
ORPHA:1964 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
| Tetanus |
|
Tachycardia, Stiff neck, Bradycardia, Hypertension |
ORPHA:3299 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Kyphosis, Mitral regurgitation, Thoracic scoliosis, Postaxial polydactyly |
OMIM:603387 |
| Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Weight loss, Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Megalocornea-Intellectual Disability Syndrome |
|
Metatarsus valgus, Genu varum, Tapered finger, Kyphosis, Short stature, Joint hyperflexibility, S... |
ORPHA:2479 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension |
OMIM:615474 |
| D-Glyceric Aciduria |
|
Failure to thrive, Bradycardia, Growth delay |
OMIM:220120 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Kyphosis, Short stature, Congestive heart failure, In... |
OMIM:309900 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis... |
OMIM:259770 |
| 2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Kyphosis, Metatarsus adductus, Aortic regurgitation, Ing... |
ORPHA:261349 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Kyphosis, Short stature, Overlapping toe, Scoliosis, Gr... |
OMIM:619557 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Kyphosis |
OMIM:618138 |
| Prader-Willi Syndrome |
|
Genu valgum, Small hand, Kyphosis, Short foot, Short palm, Hip dysplasia, Short stature, Clinodac... |
OMIM:176270 |
| Sialidosis Type 1 |
|
Hernia, Kyphosis, Short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Hypertrophic cardiomyopathy, Bradycardia... |
OMIM:618775 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
| Cohen Syndrome |
|
Genu valgum, Tapered finger, Finger syndactyly, Kyphosis, Short stature, Slender toe, Clinodactyl... |
ORPHA:193 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Kyphosis, Aortic regurgitation, Scoliosis, Arachnodactyl... |
OMIM:609008 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:85317 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Small hand, Kyphosis, Hip dysplasia, Clinodactyly, Metatarsus adductus, Scoliosis |
OMIM:181405 |
| Dermatomyositis |
|
Pulmonary arterial hypertension, Weight loss, Cellulitis, Sinus tachycardia, Arthritis, Telangiec... |
ORPHA:221 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Hypertension, Osteopenia, Truncal obesity, Osteoporosis |
OMIM:219080 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Hypertension, Osteopenia, Truncal obesity, Osteoporosis |
OMIM:610475 |
| Atypical Rett Syndrome |
|
Small hand, Kyphosis, Growth delay, Scoliosis, Short foot |
ORPHA:3095 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Brachydactyly, Postaxial hand polydactyly, ... |
ORPHA:2075 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
| Occipital Horn Syndrome |
|
Short clavicles, Genu valgum, Limited elbow extension, Coxa valga, Kyphosis, Capitate-hamate fusi... |
OMIM:304150 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Lipoatrophy, Failure to thrive, Kyphosis |
ORPHA:349 |
| Coffin-Lowry Syndrome |
|
Tapered finger, Kyphosis, Short metacarpal, Short stature, Craniofacial hyperostosis, Broad finge... |
ORPHA:192 |
| 16P13.2 Microdeletion Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Short stature, Hip dysplasia, Failure to thrive, Scoli... |
ORPHA:500055 |
| Magel2-Related Prader-Willi-Like Syndrome |
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Flexion contracture, Small hand, Kyphosis, Short stature, Hip dysplasia, Failure to thrive, Osteo... |
ORPHA:398069 |
| Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Enamel hypoplasia, Genu valgum, Finger swelling, Joint contracture of th... |
OMIM:309000 |
| Gaucher Disease Type 1 |
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Pulmonary arterial hypertension, Kyphosis, Increased bone mineral density, Osteolysis, Delayed pu... |
ORPHA:77259 |
| Refsum Disease |
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Short metacarpal, Heart block, Hammertoe, Abnormal epiphysis morphology, Cardiomyopathy |
ORPHA:773 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Biconcave vertebral bodies, Kyphosis, Keloids, Short stature, Joint hypermobili... |
OMIM:130720 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Hip contracture, Kyphosis, Finger joint hypermobility, Short stature, Elbow flexion ... |
OMIM:618493 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ... |
ORPHA:2215 |
| Alg1-Cdg |
|
Limitation of joint mobility, Scoliosis, Kyphosis, Cardiomyopathy |
ORPHA:79327 |
| Bohring-Opitz Syndrome |
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Short stature, Fixed elbow flexion, Limitation of joint mobility, Bilateral wrist flexion contrac... |
ORPHA:97297 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Absent fourth finger distal interphalangeal crease, Kyphosis, Short stature, Joint hypermobility,... |
OMIM:618050 |
| Atrioventricular septal defect 3 |
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Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
| Shashi-Pena Syndrome |
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Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Intrauterine growth retardation, Cervical C2... |
OMIM:617190 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Kyphosis, Craniofacial hyperostosis, Inguinal hernia, Short neck, Scoliosis, Joint... |
ORPHA:2789 |
| Stickler Syndrome |
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Protrusio acetabuli, Genu valgum, Arachnodactyly, Kyphosis, Short stature, Osteoarthritis, Cachex... |
ORPHA:828 |
| Immunodeficiency 87 And Autoimmunity |
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Pulmonary arterial hypertension, Third degree atrioventricular block, Small for gestational age, ... |
OMIM:619573 |
| Pelizaeus-Merzbacher Disease |
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Kyphosis, Short stature, Cachexia, Scoliosis, Joint stiffness, Failure to thrive in infancy |
ORPHA:702 |
| Gitelman Syndrome |
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Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... |
ORPHA:358 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
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Short stature, Kyphosis, Femoral retroversion, Scoliosis, Hypoplastic scapulae |
ORPHA:79107 |
| Zimmermann-Laband Syndrome 2 |
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Short stature, Short neck, Kyphosis |
OMIM:616455 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Short stature, Small for gestational age, Joint laxity, Rickets, Inguinal herni... |
OMIM:613658 |
| Cockayne Syndrome A |
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Hypoplastic iliac wing, Enamel hypoplasia, Hip contracture, Kyphosis, Short stature, Reduced subc... |
OMIM:216400 |
| Cockayne Syndrome Type 2 |
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Enamel hypoplasia, Flexion contracture, Kyphosis, Scarring, Scoliosis, Intrauterine growth retard... |
ORPHA:90322 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Bradycardia, Shock, Hypotension |
ORPHA:391673 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Short neck, Hip dislocation, Kyphosis |
OMIM:608776 |
| Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Elbow contracture, Broad hallux, Short hallux, Short neck, Postaxial hand polydac... |
OMIM:304120 |
| Hereditary Pheochromocytoma-Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:29072 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Complete duplication of thumb phalanx, Finger syndactyly,... |
ORPHA:568 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Wide anterior fontanel, Kyphosis, Rhizomelia, Tibial bowing, Con... |
OMIM:616482 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Kyphosis, Clinodactyly, Kyphoscoliosis, Radial deviation of finger, S... |
OMIM:301040 |
| 15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Scoliosis, Kyphosis |
ORPHA:261190 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Short stature, Small for gestational age, Hip dysplasi... |
OMIM:610443 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short phalanx of finger, Kyphosis, Short stature, Clinodactyly, Camptodactyly, Syn... |
OMIM:616894 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Flexion contracture, Hip contracture, Irregular vertebral endplates, Kyphosis, Posterior scallopi... |
ORPHA:3042 |
| Mgat2-Cdg |
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Kyphosis, Reflex asystolic syncope, Brachydactyly, Failure to thrive, Osteopenia, Scoliosis, Arrh... |
ORPHA:79329 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Kyphosis, Hypertension, Vertebral compression fracture, Obesity, Abdo... |
OMIM:219090 |
| Spondyloenchondrodysplasia |
|
Hypoplastic ilia, Kyphosis, Juvenile rheumatoid arthritis, Short stature, Arthritis, Raynaud phen... |
ORPHA:1855 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis |
OMIM:614898 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Thin bony cortex, Metaphyseal dysplasia, Increased intervertebral space, Broad femoral neck, Shor... |
OMIM:619727 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Preaxial hand polydactyly, Hernia, Kyphosis, Hypoplastic pubic rami, Intrauterine ... |
ORPHA:280 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Thin bony cortex, Cuboid-shaped vertebral bodies, Slender long bone, Large for gesta... |
OMIM:612731 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Scoliosis, Kyphosis |
OMIM:609541 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Short stature, Vertebral segmentation defect, Hip dislocation, Scolio... |
ORPHA:96169 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Kyphosis, Clinodactyly, B... |
ORPHA:464738 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Growth delay |
OMIM:608800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Kyphosis, Hypertension, Osteopenia, Truncal obesity, Osteoporosis |
OMIM:610489 |
| Dent Disease |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
ORPHA:1652 |
