Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis |
OMIM:617404 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... |
OMIM:255600 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... |
OMIM:602484 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Mucolipidosis Type Iii |
|
Fatigue, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:577 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... |
OMIM:618097 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Flexion contracture, Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... |
ORPHA:97244 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myalgia, Multiple joint contractures, Slender build, Hyperlordosis |
ORPHA:352470 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis |
ORPHA:363454 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618524 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight |
OMIM:618392 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... |
ORPHA:267 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hyperlordosis, Kyphosis, Obesity, Keloids |
ORPHA:3085 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Achilles tendon contracture, Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Failure to thrive, Multiple joint contractures, Foot joint contracture, Sho... |
ORPHA:536516 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture, Myalgia, Thoracic kyphosis |
ORPHA:206546 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... |
OMIM:618363 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build |
OMIM:161800 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
Aredyld Syndrome |
|
Cachexia, Lipoatrophy, Abnormal dental enamel morphology, Scoliosis |
ORPHA:1133 |
Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Cataract, Small for gestational age |
ORPHA:85288 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
Adiposis Dolorosa |
|
Fatigue, Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia |
OMIM:103200 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
Bethlem Myopathy 2 |
|
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis |
OMIM:616471 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity |
OMIM:609308 |
Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Cataract, Scoliosis |
ORPHA:2047 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:2471 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... |
ORPHA:98855 |
Myopathy, Scapulohumeroperoneal |
|
Hyperlordosis, Achilles tendon contracture, Scoliosis, Increased connective tissue |
OMIM:616852 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618323 |
Developmental And Epileptic Encephalopathy 73 |
|
Inguinal hernia, Cataract, Flexion contracture, Scoliosis, Failure to thrive |
OMIM:618379 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Defective DNA repair after ultraviolet radiation damage, C... |
OMIM:610965 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Sudden cardiac death, Short neck, Hyperlordosis, Kyphosis, Achilles ten... |
ORPHA:98863 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Scoliosis |
OMIM:616801 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Scoliosis |
ORPHA:363717 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy |
OMIM:615980 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Abdominal pain, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma |
OMIM:612713 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Sudden cardiac death, Hyperlordosis, Spinal rigidity, Kyphosis, Achille... |
ORPHA:98853 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Hyperlordosis |
OMIM:162370 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Arthralgia, Opacification of the corneal stroma, Scoliosis |
OMIM:252605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Myalgi... |
OMIM:606612 |
Tuberculosis |
|
Fatigue, Weight loss |
ORPHA:3389 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Nemaline Myopathy 2 |
|
Hyperlordosis, Spinal rigidity, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... |
OMIM:256030 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:255200 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... |
ORPHA:3041 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Ankle flexion contracture, Hyperlordosis |
OMIM:617760 |
Intellectual Disability And Myopathy Syndrome |
|
Fatigue, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis |
OMIM:615761 |
Mantle Cell Lymphoma |
|
Fatigue, Weight loss |
ORPHA:52416 |
Myasthenic Syndrome, Congenital, 14 |
|
Hyperlordosis, Scoliosis, Knee flexion contracture |
OMIM:616228 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis |
OMIM:255310 |
Pulmonary Blastoma |
|
Chest pain, Weight loss |
ORPHA:64741 |
Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Kyphoscoliosis, Asthenia |
ORPHA:251383 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia |
ORPHA:85278 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Hyperlordosis |
OMIM:160150 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoli... |
ORPHA:371364 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Exercise-induced myalgia, Distal arthrogryposis, Cachexia |
ORPHA:42 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... |
OMIM:184250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Exercise intolerance, Slender build, Myalgia, Hyperlordosis |
OMIM:615156 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cataract, Shoulder flexion contracture, C... |
OMIM:255800 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Scoliosis, Shagreen patch |
ORPHA:2511 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontin... |
OMIM:617114 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Bowel incontinence, Kyphosis, Scoliosis |
ORPHA:702 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel, Hypoplasia of... |
OMIM:253000 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Cronkhite-Canada Syndrome |
|
Fatigue, Cataract, Cachexia, Abdominal pain |
ORPHA:2930 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Ky... |
ORPHA:582 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Myalgia, Scoliosis |
OMIM:607155 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hip pain, Hypoplasia of the odontoid process, I... |
OMIM:184100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Myalgia, Hyperlordosis |
OMIM:618129 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Myalgia, Scoliosis |
OMIM:160500 |
Renpenning Syndrome |
|
Cataract, Iris coloboma, Cachexia |
ORPHA:3242 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:613156 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Winchester Syndrome |
|
Kyphosis, Corneal opacity |
OMIM:277950 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:1387 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Arthralgia, Scoliosis |
OMIM:618167 |
Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive, Flexion contracture |
OMIM:618237 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Hump-shaped mou... |
OMIM:313400 |
Oculoskeletodental Syndrome |
|
Hyperlordosis, Developmental cataract, Thoracic kyphosis, Scoliosis, Enamel hypoplasia |
ORPHA:557003 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Fatigue, Lumbar hyperlordosis, Bilateral camptodactyly, Posterior subcapsular cataract... |
OMIM:619234 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:617352 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Exercise-induced myalgia, Thoracic kyphosis, Sc... |
OMIM:619542 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:85293 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Kyphosis, Vertebral segmentation defect, Scoliosis, Shagreen patch |
ORPHA:2617 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Hyperlordosis |
OMIM:613157 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Flexion contracture, Hyperlordosis |
OMIM:611588 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Riboflavin Transporter Deficiency |
|
Cachexia, Iris hypopigmentation |
ORPHA:97229 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Fetal Akinesia Deformation Sequence 4 |
|
Arthrogryposis multiplex congenita, Short neck, Kyphosis, Camptodactyly |
OMIM:618393 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Scoli... |
ORPHA:300605 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia |
OMIM:618186 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Microcornea, Scoliosis, Abnormality of the cervical ... |
ORPHA:48431 |
Majeed Syndrome |
|
Cachexia, Flexion contracture, Bone pain, Weight loss, Arthralgia, Myalgia, Failure to thrive |
ORPHA:77297 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Kyphoscoliosis, Cutaneous angiolipomas, Bone pain, Abnormality of the vertebral column, ... |
ORPHA:53721 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... |
OMIM:314580 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... |
OMIM:253010 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... |
OMIM:618484 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Hyperlordosis |
OMIM:617450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Lipodystrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Myalgia... |
OMIM:613327 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Scoliosis |
OMIM:300624 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal ve... |
OMIM:616817 |
Eosinophilic Fasciitis |
|
Fatigue, Fasciitis, Weight loss, Arthralgia, Myalgia, Cellulitis |
ORPHA:3165 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Arthrogrypo... |
ORPHA:171436 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... |
OMIM:234250 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Kyphosis, Abnormal fo... |
ORPHA:2635 |
Schwartz-Jampel Syndrome |
|
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Hyperlordosis,... |
ORPHA:800 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form... |
ORPHA:354 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:253700 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Short neck, Kyphoscoliosi... |
OMIM:114300 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture |
ORPHA:353327 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Short neck |
ORPHA:1438 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract |
ORPHA:1875 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Weight loss |
ORPHA:2023 |
Idiopathic Bronchiectasis |
|
Halitosis, Chest pain, Cachexia |
ORPHA:60033 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Myalgia... |
OMIM:619040 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Hip pain |
OMIM:167320 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Small for gestational age, Kyphosis, Congenital contracture, Joint contracture o... |
ORPHA:352490 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
ORPHA:353 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... |
OMIM:616200 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive |
OMIM:620007 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Abnormal testis morphology |
ORPHA:100 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Abnormality of the vertebral column, Hip pain, Hyperlordosis |
ORPHA:52430 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive |
ORPHA:796 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis... |
OMIM:615834 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Cataract, Weight loss |
OMIM:620045 |
Immunodeficiency 54 |
|
Chromosome breakage, Failure to thrive |
OMIM:609981 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Marfan Syndrome |
|
Inguinal hernia, Flat cornea, Arthralgia/arthritis, Chronic fatigue, Cachexia, Lens luxation, Ect... |
ORPHA:558 |
Idiopathic Achalasia |
|
Chest pain, Weight loss |
ORPHA:930 |
Full Schwannomatosis |
|
Lipoma, Pain, Cataract, Scoliosis |
ORPHA:93921 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scol... |
ORPHA:2789 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills, Panniculitis, Weight loss |
ORPHA:86884 |
Baralle-Macken Syndrome |
|
Kyphosis, Urinary incontinence, Cataract, Obesity |
OMIM:619255 |
Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Kyphosis, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Lipoatrophy, Scoliosis |
ORPHA:64755 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:178148 |
Rett Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
OMIM:312750 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abdominal pain, Cachexia, Weight loss |
ORPHA:298 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
Congenital Myopathy 10B, Mild Variant |
|
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis |
OMIM:620249 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis |
ORPHA:1192 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Corneal erosion, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Muscular Dystrophy, Duchenne Type |
|
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contractures, Knee fle... |
OMIM:310200 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... |
ORPHA:75840 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia |
OMIM:618272 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
Microphthalmia, Lenz Type |
|
Cataract, Camptodactyly of finger, Hyperlordosis, Kyphosis, Microcornea, Scoliosis, Iris coloboma |
ORPHA:568 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification of the co... |
OMIM:230650 |
Bethlem Myopathy |
|
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... |
ORPHA:610 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Abdominal pain, Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
Alpha-Mannosidosis |
|
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis |
ORPHA:61 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Encopresis, Obesity, Scoliosis |
OMIM:618443 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
19Q13.11 Microdeletion Syndrome |
|
Microcornea, Failure to thrive, Cataract, Cachexia |
ORPHA:217346 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Camurati-Engelmann Disease |
|
Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Bone pain, Abno... |
ORPHA:1328 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Arthralgia, Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Pseudomyxoma Peritonei |
|
Abdominal pain, Hernia, Weight loss |
ORPHA:26790 |
Short Syndrome |
|
Inguinal hernia, Posterior embryotoxon, Lipodystrophy, Abnormal dental enamel morphology, Corneal... |
ORPHA:3163 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris col... |
ORPHA:391474 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Exercise intolerance, Kyphosis, Keratoglobus, Distal arthrogryposis, Astigmatism, Sc... |
OMIM:108145 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity, Arthralgia, Scoliosis |
ORPHA:813 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Weight loss |
ORPHA:100083 |
Galactose Epimerase Deficiency |
|
Cataract, Weight loss |
ORPHA:79238 |
Primary Myelofibrosis |
|
Fatigue, Flank pain, Constitutional symptom, Cachexia |
ORPHA:824 |
Fucosidosis |
|
Lipoatrophy, Corneal opacity, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive |
ORPHA:349 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Camptodactyly |
OMIM:619980 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Myalgia, Hyperlordosis |
ORPHA:369840 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Chromosomal breakage in... |
OMIM:609053 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Arthralgia, Scoliosis, Verte... |
ORPHA:93352 |
3Mc Syndrome |
|
Hyperlordosis, Abnormal anterior chamber morphology, Prominent coccyx, Scoliosis, Umbilical herni... |
ORPHA:293843 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Scoliosis, Joint contracture |
OMIM:615381 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... |
OMIM:230000 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal st... |
OMIM:616007 |
Hypomelanosis Of Ito |
|
Kyphosis, Cataract, Iris coloboma, Scoliosis |
OMIM:300337 |
Myotonia Permanens |
|
Chest pain, Myalgia, Hyperlordosis |
ORPHA:99735 |
Three M Syndrome 1 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... |
OMIM:273750 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Lipoma, Cachexia, Scoliosis |
ORPHA:109 |
3M Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... |
ORPHA:2616 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger |
ORPHA:2848 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Abdominal pain |
OMIM:175500 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Failure to thrive |
OMIM:617883 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Astigmatism, Hernia, Enamel hypoplasia, Failure to thrive, Amelogenesis impe... |
OMIM:617052 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive |
ORPHA:319199 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract |
OMIM:610756 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Hyperlordosis |
ORPHA:169186 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Seckel Syndrome |
|
Cachexia, Abnormal dental enamel morphology, Scoliosis |
ORPHA:808 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... |
OMIM:169550 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Flexion contracture, Developmental cataract, Scoliosis, Failure to thrive |
OMIM:248800 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Arthralgia, Be... |
OMIM:215150 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Astigmatism, Lumbar scoliosis, Cervi... |
OMIM:617796 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Kyphosis, Scoliosis |
ORPHA:2181 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hernia |
ORPHA:812 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis |
ORPHA:1545 |
Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly |
OMIM:615065 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Desmoplastic Small Round Cell Tumor |
|
Abdominal pain, Cachexia, Weight loss |
ORPHA:83469 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Arthralgia, Abnormal... |
ORPHA:174 |
Trisomy 18 |
|
Omphalocele, Cataract, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Microc... |
ORPHA:3380 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:1798 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Failure to thrive, Hyperlordosis |
OMIM:600462 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis |
ORPHA:435387 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... |
OMIM:607095 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Spondylolysis, Scoliosis, Enamel hypoplasia, S... |
ORPHA:763 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:3191 |
Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoli... |
ORPHA:2020 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium |
ORPHA:2771 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:612921 |
Whipple Disease |
|
Fatigue, Cachexia, Abdominal pain, Chest pain, Arthralgia, Myalgia |
ORPHA:3452 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Opacification of the corneal stroma, Hernia, Failur... |
ORPHA:583 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Cataract, Urinary incontinence, Scoliosis |
OMIM:614409 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Scoliosis |
OMIM:618234 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Weight loss |
ORPHA:86893 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Cataract, Block vertebrae, Short neck, Hyperlordosis, Hypoplas... |
OMIM:272460 |
Icf Syndrome |
|
Umbilical hernia, Abnormality of chromosome stability |
ORPHA:2268 |
Stickler Syndrome |
|
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Kyphosis, Bone pain, Spina... |
ORPHA:828 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Cataract, Urinary incontinence, Cachexia, Band keratopathy, ... |
ORPHA:191 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Chronic Hiccup |
|
Recurrent singultus, Weight loss |
ORPHA:396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:300986 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... |
ORPHA:1427 |
Nodular Non-Suppurative Panniculitis |
|
Abdominal pain, Weight loss, Panniculitis, Myalgia, Arthralgia |
ORPHA:33577 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Cataract, Flexion contracture, Irregular vertebral endplates, Coronal cleft vert... |
OMIM:222765 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis |
OMIM:618870 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, E... |
OMIM:608328 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Ruvalcaba Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
OMIM:180870 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight |
OMIM:615222 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Lumbar hyperlordosis, Abnormality iris morphology, Cataract |
ORPHA:370959 |
Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive, Hernia, Short neck |
ORPHA:1842 |
Trichorhinophalangeal Syndrome Type 1 |
|
Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Scoliosis, Camptodactyly, A... |
OMIM:615547 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Nail-Patella Syndrome |
|
Back pain, Lester's sign, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint o... |
ORPHA:2614 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Platyspondyl... |
OMIM:242900 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Martsolf Syndrome 1 |
|
Inguinal hernia, Cataract, Lumbar hyperlordosis, Thoracic scoliosis, Developmental cataract |
OMIM:212720 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Hernia, Scoliosis,... |
ORPHA:94065 |
Hemifacial Atrophy, Progressive |
|
Trigeminal neuralgia, Kyphosis |
OMIM:141300 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Weight loss |
ORPHA:317 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Flexion contracture, Anterior wedging of T12, Deficient excision of UV... |
OMIM:227645 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Cohen Syndrome |
|
Small for gestational age, Thoracic scoliosis, Lumbar hyperlordosis, Childhood-onset truncal obesity |
OMIM:216550 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom... |
ORPHA:175 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Contracture of the distal interphalang... |
OMIM:607015 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Obesity, Scoliosis |
OMIM:618124 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Scoliosis |
OMIM:617244 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Arthralgia, Sc... |
OMIM:177170 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:1969 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... |
OMIM:613385 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... |
ORPHA:573278 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... |
ORPHA:2839 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Pfapa Syndrome |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:42642 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slender build |
OMIM:254090 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Bowel incontinence, Kyphosis, Chronic pain, Scoliosis, Camptodactyly, Flexion contractu... |
ORPHA:88628 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Abnormal vertebral morphology, Short neck |
OMIM:300514 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Obesity |
OMIM:619185 |
Follicular Lymphoma |
|
Fatigue, Night sweats, Weight loss |
ORPHA:545 |
Pure Mitochondrial Myopathy |
|
Exercise intolerance, Lumbar hyperlordosis, Myalgia, Scoliosis |
ORPHA:254854 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... |
ORPHA:2311 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:609625 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
Nail-Patella Syndrome |
|
Back pain, Keratoconus, Lumbar hyperlordosis, Cataract, Antecubital pterygium, Microcornea, Scoli... |
OMIM:161200 |
X-Linked Agammaglobulinemia |
|
Fatigue, Weight loss, Conjunctivitis, Cellulitis, Failure to thrive |
ORPHA:47 |
Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Flexion contracture, Developmental cataract, Conjunctivitis, Scoliosis, Ename... |
ORPHA:90322 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Lig4 Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... |
OMIM:253200 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Astigmatism, Scoliosis |
OMIM:619797 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis, Scoliosis, C... |
OMIM:609128 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hyperlordosis, Increased connective tissue, Flexion contracture, Scoliosis, Decreased body weight |
ORPHA:258 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Small for gestational age, Short n... |
ORPHA:1830 |
Trisomy 13 |
|
Cataract, Kyphosis, Aplasia/Hypoplasia of the iris, Scoliosis, Hernia, Iris coloboma |
ORPHA:3378 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Joint contracture, Lumbar hyperlordosis |
OMIM:602471 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe |
ORPHA:3409 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe, Joint contracture of th... |
OMIM:300280 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Abdominal pain, Weight loss, Abdominal cramps, Slender build, Allodynia |
OMIM:603041 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... |
OMIM:618291 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Urinary incontinence, Obesity, Scoliosis |
ORPHA:464282 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Kyphosis, Hemivertebrae, Abn... |
ORPHA:2916 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Alexander Disease |
|
Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Bowel incontinence, Recurrent singultu... |
ORPHA:58 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... |
OMIM:619636 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Cataract, Ectopia lentis, Microspherophakia, Spinal canal stenosis, Shallow... |
OMIM:277600 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Kyphosis, Absence of subcutaneo... |
OMIM:616914 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Abnormal sacroiliac joint morphology, Bone pain, Weight loss, Scoliosis, Abnormal verteb... |
ORPHA:324964 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Failure to thrive, Kyphosis |
OMIM:169400 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma, Abdominal pain |
ORPHA:79076 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contracture, Flexion... |
OMIM:301041 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract, Arthralgia, Cellulitis |
OMIM:614878 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis |
ORPHA:3253 |
Proteus Syndrome |
|
Central heterochromia, Cataract, Abnormal dental enamel morphology, Cachexia, Sudden cardiac deat... |
ORPHA:744 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Poems Syndrome |
|
Fatigue, Lipodystrophy, Weight loss, Pain, Sclerotic vertebral endplates |
ORPHA:2905 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Short neck |
OMIM:610832 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis |
ORPHA:3068 |
Mast Cell Sarcoma |
|
Fatigue, Weight loss |
ORPHA:66661 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Cowden Syndrome 5 |
|
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma |
OMIM:615108 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigue, Exercise intolerance, Bowel incontinence, Hyperlordosis, Flexion contracture, Chronic pa... |
ORPHA:365 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Cataract, Weight loss, Aplasia/Hypoplasia of the iris, Astig... |
ORPHA:84 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... |
ORPHA:628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Exercise intolerance, Spinal rigidity |
OMIM:615084 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... |
ORPHA:93360 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Hernia of the abdominal wall, Short neck |
ORPHA:3082 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Myalgia, Hyperlordosis |
ORPHA:26791 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Weight loss, Kayser-Fleischer ring, Arthralgia, Fail... |
ORPHA:905 |
Trichorhinophalangeal Syndrome, Type I |
|
Arthralgia, Scoliosis, Hyperlordosis |
OMIM:190350 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
ORPHA:261190 |
Emanuel Syndrome |
|
Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Astigmatism, Scoliosis... |
OMIM:609029 |
Bloom Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Azoospermia, Chromosome breakage |
OMIM:210900 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... |
OMIM:271510 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Kyphoscoliosis, Hyperlordosi... |
ORPHA:653 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Myopic astigmatism, Obesity, Hyperlordosis |
OMIM:301066 |
Stickler Syndrome, Type I |
|
Cataract, Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebra... |
OMIM:108300 |
Cowden Syndrome 6 |
|
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma |
OMIM:615109 |
Takayasu Arteritis |
|
Fatigue, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:3287 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contract... |
OMIM:620351 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly |
OMIM:616482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Myalgia, Scoliosis, Hyperlordosis |
OMIM:615356 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Hypoplastic sacrum, Chromosomal breakage induced by crosslinking agents, Sho... |
OMIM:614083 |
Liposarcoma |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:69078 |
Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Inguinal hernia, Kyphosis, Scoliosis |
ORPHA:3121 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... |
ORPHA:649 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Failure to thrive, Spina bifida occulta, Astigmatism |
ORPHA:96148 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Hyperlordosis, Scoliosis, Iris coloboma |
OMIM:234100 |
Pleural Mesothelioma |
|
Constitutional symptom, Chest pain, Weight loss |
ORPHA:50251 |
Distal Triplication 15Q |
|
Corneal dystrophy, Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Hernia, C... |
ORPHA:314588 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Cachexia, Short neck |
ORPHA:647 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Failure to thrive, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Classic Hodgkin Lymphoma |
|
Fatigue, Chest pain, Bone pain, Weight loss |
ORPHA:391 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis |
OMIM:617143 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity, Lumbar hyperlordosis, Astigmatism, Hyperlordosis |
OMIM:616078 |
Polymyositis |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia, Chondrocalcinosis |
ORPHA:732 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Cataract, Scoliosis |
ORPHA:2115 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Cataract, Scoliosis |
ORPHA:79107 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:250420 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Flexion contracture, Lumbar kyphosis, Thoracic kyphosis, Conjun... |
ORPHA:505248 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Umbilical hernia, Hyperlordosis |
ORPHA:221139 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis |
OMIM:162300 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Cataract |
ORPHA:324737 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Thymic Carcinoma |
|
Fatigue, Chest pain, Weight loss |
ORPHA:99868 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... |
OMIM:230500 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Exercise intolerance, Spinal rigidity |
ORPHA:352447 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis |
OMIM:616449 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Bowel incontinence, Hyperlordosis |
ORPHA:261330 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Bone pain |
ORPHA:85193 |
Lymphoid Interstitial Pneumonia |
|
Fatigue, Weight loss, Keratoconjunctivitis sicca, Abnormality of connective tissue, Failure to th... |
ORPHA:79128 |
Hurler Syndrome |
|
Inguinal hernia, Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexi... |
OMIM:607014 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Astigmatism, Scoliosis |
OMIM:618493 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Lumbar hyperlordosis, Sacral dimple, Short neck, Ca... |
OMIM:305450 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:600901 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis |
OMIM:259420 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Short neck |
OMIM:608776 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Microsporidiosis |
|
Cachexia, Abdominal pain, Keratitis, Weight loss, Keratoconjunctivitis, Corneal ulceration |
ORPHA:2552 |
Marden-Walker Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Joint co... |
OMIM:248700 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis |
ORPHA:236 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:65682 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Failure... |
OMIM:619950 |
Non-Functioning Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain, Weight loss |
ORPHA:94080 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
3C Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Iris coloboma |
ORPHA:7 |
Leishmaniasis |
|
Fatigue, Night sweats, Arthralgia, Weight loss |
ORPHA:507 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Megalocornea, Leukocoria |
OMIM:268130 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:254346 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:227650 |
Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Lens subluxation, Scoliosis |
OMIM:609008 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
Cowden Syndrome 1 |
|
Kyphosis, Cataract, Scoliosis, Subcutaneous lipoma |
OMIM:158350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Knee flexion contracture |
OMIM:603387 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Cryptogenic Organizing Pneumonia |
|
Fatigue, Night sweats, Weight loss, Chest pain, Arthralgia |
ORPHA:1302 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Cachexia, Corneal opacity, Scoliosis |
ORPHA:2072 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Failure to thrive, Cataract, Scoliosis |
OMIM:617988 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Ocular pain, Anisocoria, Posterior s... |
ORPHA:263479 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... |
ORPHA:2479 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Chromosomal breakage induced by ionizing radiation, ... |
ORPHA:420741 |
Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Yao Syndrome |
|
Abdominal pain, Weight loss, Keratoconjunctivitis sicca, Arthralgia, Myalgia, Chest pain |
OMIM:617321 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Lysosomal Acid Lipase Deficiency |
|
Abdominal pain, Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Focal Myositis |
|
Myalgia, Weight loss |
ORPHA:48918 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Hirschsprung Disease |
|
Abdominal pain, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Developmental cataract, Scolio... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Developmental cataract, Scolio... |
ORPHA:363958 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bo... |
ORPHA:261318 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Ocular pain, Abnormal anterior ch... |
ORPHA:67043 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Abdominal obesity |
OMIM:300354 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Abnormal dental enamel morphology, Kyphosis, Vertebral segmentation d... |
ORPHA:96169 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis, Congenital diaphragmatic hernia |
ORPHA:2075 |
Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... |
OMIM:250250 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age |
ORPHA:1439 |
Chronic Beryllium Disease |
|
Fatigue, Weight loss |
ORPHA:133 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Umbilical hernia, Scoliosis, Keloids, Bi... |
OMIM:130720 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Hermansky-Pudlak Syndrome |
|
Fatigue, Cataract, Abnormal dental enamel morphology, Abdominal pain, Ocular albinism, Weight los... |
ORPHA:79430 |
Felty Syndrome |
|
Weight loss, Arthralgia, Cellulitis |
ORPHA:47612 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Kaposi Sarcoma |
|
Fatigue, Weight loss |
ORPHA:33276 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive |
OMIM:617602 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis |
ORPHA:522077 |
Aggressive Systemic Mastocytosis |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym... |
ORPHA:98850 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Abdominal pain, Weight loss |
OMIM:266600 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, Sacral dimple, Kyphos... |
ORPHA:536532 |
Sponastrime Dysplasia |
|
Shoulder pain, Lumbar hyperlordosis, Cataract, Small for gestational age, Kyphoscoliosis, Hyperco... |
ORPHA:93357 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis |
ORPHA:1005 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive |
ORPHA:500055 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Night sweats, Weight loss |
ORPHA:2126 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Short neck |
ORPHA:251028 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Corneal ulceration |
OMIM:153400 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Weight loss |
OMIM:191390 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Episodic pain, Ear pain, Mandibular pain, Weight loss, Tongue ... |
ORPHA:221098 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Dentinogenesis imperfecta, Scoliosis |
OMIM:166220 |
Williams Syndrome |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Arthralgia, Megalocornea, S... |
ORPHA:904 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperlordosis, Obesity, Truncal obesity, Astigmatism, Scoliosis, Failure to thrive |
OMIM:615873 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck |
ORPHA:251071 |
Monosomy 9Q22.3 |
|
Cataract, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral column, U... |
ORPHA:77301 |
Rhabdoid Tumor |
|
Abdominal pain, Weight loss |
ORPHA:69077 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Obesity |
ORPHA:261222 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Classic Homocystinuria |
|
Cataract, Ectopia lentis, Kyphosis, Scoliosis, Hernia |
ORPHA:394 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:268 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Rheumatoid Arthritis |
|
Fatigue, Arthralgia, Weight loss |
OMIM:180300 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Kyphosis, Scoliosis |
OMIM:617061 |
Polyarteritis Nodosa |
|
Abdominal pain, Arthralgia, Myalgia, Weight loss |
ORPHA:767 |
Nephroblastoma |
|
Aniridia, Abdominal pain, Weight loss |
ORPHA:654 |
Meningioma |
|
Back pain, Urinary incontinence, Trigeminal neuralgia, Ear pain, Obesity, Chromosomal breakage in... |
ORPHA:2495 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Abdominal pain, Weight loss, Myalgia, Constitutional symptom |
ORPHA:188 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Weight loss |
ORPHA:3226 |
Immunodeficiency 27A |
|
Night sweats, Weight loss |
OMIM:209950 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Small for gestational age, Kyph... |
OMIM:610443 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, Allergi... |
OMIM:176690 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Scoliosis, Knee flexion contracture |
OMIM:118650 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... |
ORPHA:2062 |
Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Chromosomal... |
OMIM:227646 |
Igg4-Related Aortitis |
|
Low back pain, Abdominal pain, Weight loss |
ORPHA:449400 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss, Enthesitis, Arthralgia, Myalgia, Abnormality of the cervical spine |
ORPHA:85408 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bone pain, Art... |
ORPHA:955 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Slender build, Scoliosis |
ORPHA:364028 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Malignant Atrophic Papulosis |
|
Fatigue, Cataract, Abdominal pain, Weight loss, Chest pain |
ORPHA:679 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Micro Syndrome |
|
Microcornea, Kyphosis, Cataract, Scoliosis |
ORPHA:2510 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Macular scar |
OMIM:239000 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2215 |
Osteosarcoma |
|
Pain, Weight loss |
ORPHA:668 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Kyphosis, Developmental cataract,... |
OMIM:133540 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:261349 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... |
OMIM:610915 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Lumbar hyperlordosis, Kyphosis |
ORPHA:2232 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Short neck, Kyphosis, Flexion contracture, Umbilical hernia |
OMIM:309900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Failure to thrive |
OMIM:212065 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Contracture of the pro... |
ORPHA:464738 |
Loeffler Endocarditis |
|
Fatigue, Chest pain, Weight loss |
ORPHA:75566 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Parathyroid Carcinoma |
|
Fatigue, Bone pain, Weight loss, Episodic abdominal pain, Lipoma, Mandibular pain, Chondrocalcinosis |
ORPHA:143 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chest pain, Asthenia, Weight loss |
ORPHA:411703 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build |
ORPHA:457359 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, ... |
ORPHA:3042 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Congenital diaphragmatic hernia, Sclerocornea, Kyphosis, Abnormal form of the vert... |
ORPHA:280 |
Cystic Echinococcosis |
|
Fatigue, Abnormality of the vertebral column, Epigastric pain, Weight loss |
ORPHA:400 |
Lynch Syndrome |
|
Fatigue, Abdominal pain, Flexion contracture, Weight loss |
ORPHA:144 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Sacral dimple, Thoracolumb... |
OMIM:619503 |
Cowden Syndrome |
|
Cataract, Kyphosis, Scoliosis, Lipoma, Failure to thrive, Conjunctival hamartoma |
ORPHA:201 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Sc... |
ORPHA:251014 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Corneal opacity, Small for gestational age, Ankle flexion contracture, Kyphosi... |
ORPHA:464311 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Cap Polyposis |
|
Abdominal pain, Weight loss |
ORPHA:160148 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Cataract, Keratitis, Weight loss, Chest pain, Anterior lenticonus, Precordial pain, Fa... |
ORPHA:1018 |
Alstrom Syndrome |
|
Kyphosis, Subcapsular cataract, Truncal obesity, Scoliosis |
OMIM:203800 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... |
OMIM:259770 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Failure to thrive, Scoliosis, Short neck |
ORPHA:420794 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Night sweats, Arthralgia, Asthenia, Weight loss |
ORPHA:2902 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Weight loss |
ORPHA:168816 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Episodic abdominal pain, Upper limb pain, Weight loss |
ORPHA:370348 |
Alveolar Echinococcosis |
|
Fatigue, Low back pain, Abdominal pain, Weight loss, Chest pain, Asthenia, Epigastric pain, Abnor... |
ORPHA:284 |
Familial Colorectal Cancer Type X |
|
Fatigue, Abdominal pain, Flexion contracture, Weight loss |
ORPHA:440437 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Weight loss |
ORPHA:168811 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Acute Promyelocytic Leukemia |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Gangrene |
ORPHA:520 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Inguinal hernia |
OMIM:609944 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Weight loss, Arthralgia, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Scoliosis, Failure to th... |
ORPHA:398069 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia |
OMIM:301040 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Weight loss |
ORPHA:514 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Corneal opacity, Small for gestational age, Kyphosis, Astigmatism, S... |
ORPHA:464306 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:88644 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Klatskin Tumor |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:99978 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Hypop... |
OMIM:619194 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis |
OMIM:617190 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Failure to thrive, Kyphosis |
OMIM:617527 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Coffin-Lowry Syndrome |
|
Kyphosis, Cataract, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:192 |
Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, Failure to thrive, Kyphosis |
ORPHA:521426 |
Giant Cell Arteritis |
|
Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Arthralgia, Myalgia, Gangrene |
ORPHA:397 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Kyphosis, Atypical scarring of sk... |
OMIM:216400 |
Granulomatosis With Polyangiitis |
|
Fatigue, Keratitis, Weight loss, Asthenia, Conjunctivitis, Myalgia, Gangrene |
OMIM:608710 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Branchiooculofacial Syndrome |
|
Cataract, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Atypical scarring of sk... |
OMIM:113620 |
Anaplastic Thyroid Carcinoma |
|
Pain, Weight loss |
ORPHA:142 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Arthralgia, Body odor |
OMIM:300942 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Kyphosis, Corneal scarring, Developmental cataract, P... |
OMIM:309000 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Failure to thrive, Kyphosis,... |
OMIM:618050 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Chest pain, Weight loss |
ORPHA:79127 |
Marshall-Smith Syndrome |
|
Omphalocele, Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Th... |
OMIM:602535 |
Weaver Syndrome |
|
Inguinal hernia, Kyphosis, Scoliosis, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:277590 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Scoliosis, Peters anomaly |
OMIM:616975 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... |
OMIM:249420 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Failure to thrive, Urinary incontinence, Scoliosis |
ORPHA:476126 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:465508 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Keratoconjunctivitis |
ORPHA:79242 |
Cohen Syndrome |
|
Failure to thrive in infancy, Kyphosis, Obesity, Scoliosis, Iris coloboma |
ORPHA:193 |
Aspartylglucosaminuria |
|
Cataract, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Beaking of vertebral bodies,... |
OMIM:208400 |
Nocardiosis |
|
Fatigue, Keratitis, Ocular pain, Night sweats, Weight loss, Chest pain, Conjunctivitis, Celluliti... |
ORPHA:31204 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain, Weight loss |
ORPHA:276621 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity |
OMIM:219080 |
Familial Pancreatic Carcinoma |
|
Back pain, Abdominal pain, Chronic fatigue, Weight loss |
ORPHA:1333 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia |
ORPHA:183 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Asthenia, Weight loss |
ORPHA:90003 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Intervert... |
OMIM:203500 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
Ménétrier Disease |
|
Abdominal pain, Asthenia, Weight loss |
ORPHA:2494 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Scoliosis, Weight loss |
OMIM:619487 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Kyphosis, Knee flexion contracture, Weight loss, Umbilical hernia |
ORPHA:576 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Episodic abdominal pain, Weight loss, Chest pain, Aniridia |
ORPHA:29072 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly |
OMIM:619123 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Astigmatism, Scoliosis |
ORPHA:261250 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Failure to thrive, Bone pain, Weight loss |
OMIM:256700 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Absence of subcutaneous fat, Hemivertebrae... |
ORPHA:2911 |
Oromandibular Dystonia |
|
Pain, Weight loss |
ORPHA:93958 |
Cockayne Syndrome Type 3 |
|
Cataract, Kyphosis, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Sc... |
ORPHA:90324 |
Reactive Arthritis |
|
Abdominal pain, Weight loss, Enthesitis, Arthralgia, Conjunctivitis |
ORPHA:29207 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Kyphosis, Multiple lipomas, Scoliosis, Lisch nodules, Heterochromia ir... |
ORPHA:636 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Weight loss |
ORPHA:330001 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Diffuse Alveolar Hemorrhage |
|
Chest pain, Weight loss |
ORPHA:90060 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:361 |
Somatostatinoma |
|
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss |
ORPHA:97283 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Weight loss |
ORPHA:2070 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Abdominal pain, Flank pain, Weight loss, Pain |
ORPHA:49041 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fatigue, Cataract, Abdominal pain, Anterior chamber flare, Flank pain, Ocular pain, Weight loss, ... |
ORPHA:91500 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Kyphosis, Obesity, Abdominal obesity, Scoliosis, Iris hypopigmentation |
OMIM:176270 |
Polycythemia Vera |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:729 |
Osteogenesis Imperfecta |
|
Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Cervical kyphosis, Small for... |
ORPHA:666 |
Multiple Myeloma |
|
Fatigue, Vertebral compression fracture, Bone pain, Weight loss |
ORPHA:29073 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Chest pain, Weight loss |
ORPHA:747 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Zollinger-Ellison Syndrome |
|
Lipoma, Multiple lipomas, Episodic abdominal pain, Weight loss |
ORPHA:913 |
Late-Onset Isolated Acth Deficiency |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive |
ORPHA:199299 |
Refractory Celiac Disease |
|
Abdominal pain, Arthralgia, Weight loss |
ORPHA:398063 |
Dermatomyositis |
|
Fatigue, Weight loss, Arthralgia, Myalgia, Cellulitis, Gangrene, Chondrocalcinosis |
ORPHA:221 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia |
ORPHA:98849 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100085 |
Stevens-Johnson Syndrome |
|
Fatigue, Sudden cardiac death, Abdominal pain, Corneal erosion, Weight loss, Conjunctivitis |
ORPHA:36426 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Localized hypoplasia of dental enamel, Hyperlordosis |
ORPHA:73223 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Failure to thrive, Lumbar hyperlordosis, Decreased body weight |
OMIM:618371 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Myalgia, Weight loss |
ORPHA:54251 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology, Kyphosis, Abnormal... |
ORPHA:534 |
Vipoma |
|
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss |
ORPHA:97282 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Sacral dimple, Cataract, Small for gestational age, Failure to thrive in infancy... |
ORPHA:268261 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lisch nodules, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
Acrodermatitis Enteropathica |
|
Corneal erosion, Failure to thrive, Conjunctivitis, Weight loss |
ORPHA:37 |
Toxic Epidermal Necrolysis |
|
Fatigue, Sudden cardiac death, Abdominal pain, Corneal erosion, Weight loss, Conjunctivitis |
ORPHA:537 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Bone pain, Abdominal pain |
ORPHA:77259 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel mo... |
ORPHA:2273 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Arthrogrypos... |
ORPHA:2461 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Mend Syndrome |
|
Sacral dimple, Failure to thrive, Cataract, Kyphosis, Anterior polar cataract |
OMIM:300960 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Tropical Endomyocardial Fibrosis |
|
Fatigue, Cachexia |
ORPHA:75565 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity |
OMIM:610489 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Glucagonoma |
|
Chronic fatigue, Episodic abdominal pain, Subcutaneous lipoma, Weight loss |
ORPHA:97280 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmenta... |
ORPHA:1507 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Thymic Neuroendocrine Tumor |
|
Chest pain, Weight loss |
ORPHA:97289 |
Ramon Syndrome |
|
Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight |
OMIM:266270 |
Thymoma |
|
Chest pain, Night sweats, Myalgia, Weight loss |
ORPHA:99867 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Myalgia, Lower limb pain |
ORPHA:1855 |
Ppoma |
|
Episodic abdominal pain, Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
Castleman Disease |
|
Fatigue, Abdominal pain, Flank pain, Weight loss, Constitutional symptom |
ORPHA:160 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
Simple Cryoglobulinemia |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:91139 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Short neck, Scleroc... |
ORPHA:818 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Rat-Bite Fever |
|
Back pain, Rigors, Weight loss, Arthralgia, Myalgia, Chills |
ORPHA:31205 |
Renal Nutcracker Syndrome |
|
Fatigue, Flank pain, Abdominal pain, Weight loss |
ORPHA:71273 |
Mgat2-Cdg |
|
Kyphosis, Failure to thrive, Scoliosis |
ORPHA:79329 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... |
ORPHA:198 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Developmental cataract |
OMIM:620185 |
Juvenile Dermatomyositis |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Myalgia |
ORPHA:93672 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Bronchial Neuroendocrine Tumor |
|
Chest pain, Night sweats, Weight loss |
ORPHA:97287 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Fatigue, Cataract, Abdominal pain, Overweight, Kyphosis, Obesity, Abnormal curvature o... |
OMIM:619475 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Cataract, Weight loss |
OMIM:607459 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Cataract, Failure to thrive |
ORPHA:401973 |
Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis, Decreased body weight |
OMIM:619005 |
Gallbladder Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100086 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Weight loss |
ORPHA:20 |
Al Amyloidosis |
|
Fatigue, Weight loss |
ORPHA:85443 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Abdominal pain, Keratoconjunctivitis sicca, Weight loss |
ORPHA:309031 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Acute Adrenal Insufficiency |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive |
ORPHA:95409 |
Neuroendocrine Tumor Of The Colon |
|
Abdominal pain, Weight loss |
ORPHA:100080 |
Beta-Ketothiolase Deficiency |
|
Body odor, Weight loss |
ORPHA:134 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Weight loss |
ORPHA:90362 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Abdominal pain, Weight loss |
ORPHA:85450 |
Grfoma |
|
Episodic abdominal pain, Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Failure to thrive |
OMIM:615512 |
Budd-Chiari Syndrome |
|
Abdominal pain, Weight loss |
ORPHA:131 |
Osteootohepatoenteric Syndrome |
|
Abdominal pain, Failure to thrive, Weight loss |
OMIM:619377 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Failure to thrive, Weight loss |
ORPHA:99885 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Behçet Disease |
|
Fatigue, Cataract, Abdominal pain, Weight loss, Keratoconjunctivitis sicca, Arthralgia, Myalgia, ... |
ORPHA:117 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
Q Fever |
|
Fatigue, Night sweats, Myalgia, Weight loss |
ORPHA:781 |
Caroli Disease |
|
Abdominal pain, Conjunctival icterus, Abdominal rigidity, Weight loss, Chills |
ORPHA:53035 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Kyphosis, Scoliosis |
ORPHA:2658 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Hemivertebrae, Failure to thrive in infancy, Kyphoscoliosis |
ORPHA:500150 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abdominal pain, Chest pain, Weight loss |
ORPHA:67 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Abnormal dental enamel morphology |
ORPHA:85199 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Neuroendocrine Tumor Of The Rectum |
|
Abdominal pain, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Abdominal pain, Weight loss |
ORPHA:100082 |
Zttk Syndrome |
|
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive |
OMIM:617140 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Astigmatism, Urinary incontinence, Scoliosis |
OMIM:619482 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis |
OMIM:119600 |
X-Linked Intellectual Disability, Snyder Type |
|
Kyphosis, Kyphoscoliosis, Camptodactyly |
ORPHA:3063 |
Malt Lymphoma |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:52417 |
Erdheim-Chester Disease |
|
Fatigue, Abdominal pain, Bone pain, Weight loss |
ORPHA:35687 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Abdominal pain, Flexion contracture, Weight loss, Keratoconjunctivitis sicca, Arthralg... |
ORPHA:99921 |
Brucellosis |
|
Fatigue, Small for gestational age, Abdominal pain, Weight loss, Sacroiliac arthritis, Arthralgia... |
ORPHA:1304 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse |
OMIM:303600 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
1P36 Deletion Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Ocular albinism, Spinal canal stenosis, Obesity, Sco... |
ORPHA:1606 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Hiatus hernia |
OMIM:304150 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Microcornea, Ciliary body coloboma, Scoliosis, Camptodactyl... |
OMIM:309800 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Weight loss |
ORPHA:97286 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Granulomatosis With Polyangiitis |
|
Fatigue, Abdominal pain, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:900 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Hip pain, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Co... |
ORPHA:740 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Rieger anomaly, Small for gestational age, Kyphosis, Abnormal fo... |
OMIM:194190 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Sarcoidosis |
|
Fatigue, Cataract, Scarring, Weight loss, Keratoconjunctivitis sicca, Abnormal conjunctiva morpho... |
ORPHA:797 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Urinary incontinence, Bowel incontinence |
ORPHA:171629 |
Addison Disease |
|
Fatigue, Abdominal pain, Weight loss, Arthralgia, Failure to thrive |
ORPHA:85138 |
Ileal Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100078 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Immunodeficiency 31C |
|
Fatigue, Weight loss |
OMIM:614162 |
Pyomyositis |
|
Myalgia, Sudden cardiac death, Weight loss |
ORPHA:764 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Kyphosis, Scoliosis, Umbilical hernia, Failure to thrive |
OMIM:278250 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Multiple Endocrine Neoplasia Type 1 |
|
Multiple lipomas, Abdominal pain, Impairment of activities of daily living, Weight loss |
ORPHA:652 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, As... |
ORPHA:99889 |
Familial Thrombocytosis |
|
Chest pain, Weight loss |
ORPHA:71493 |
Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Astigmatism, Scoliosis... |
OMIM:135900 |
Neuroendocrine Tumor Of Stomach |
|
Episodic abdominal pain, Weight loss |
ORPHA:100075 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... |
ORPHA:99226 |
Turner Syndrome |
|
Failure to thrive in infancy, Short neck, Kyphosis, Neck pterygia, Obesity, Atypical scarring of ... |
ORPHA:881 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Kyphoscoliosis, Slender build, Scoliosis |
OMIM:300967 |
Primary Sclerosing Cholangitis |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:171 |
Kikuchi-Fujimoto Disease |
|
Fatigue, Night sweats, Weight loss, Arthralgia, Myalgia, Chills |
ORPHA:50918 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Pulmonary Alveolar Microlithiasis |
|
Fatigue, Chest pain, Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Abdominal pain, Night sweats, Weight loss, Arthralgia, Myalgia, Chills |
ORPHA:48435 |
Pancreatoblastoma |
|
Abdominal pain, Weight loss |
ORPHA:677 |
Tropical Pancreatitis |
|
Epigastric pain, Weight loss |
ORPHA:103918 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Acromegaly |
|
Fatigue, Kyphosis, Arthralgia, Spinal canal stenosis |
ORPHA:963 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Weight loss |
ORPHA:91347 |
Somatomammotropinoma |
|
Fatigue, Kyphosis, Arthralgia, Spinal canal stenosis |
ORPHA:314769 |
Cystinosis, Nephropathic |
|
Weight loss, Failure to thrive in infancy, Recurrent corneal erosions, Corneal crystals |
OMIM:219800 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Keratoconjunctivitis sicca, Weight loss |
ORPHA:79078 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Sacrococcygeal teratoma, Cataract, Ankle flexion contracture, K... |
ORPHA:821 |
Primrose Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Knee flexion contracture, Irregular vertebral end... |
OMIM:259050 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
African Trypanosomiasis |
|
Fatigue, Rigors, Urinary incontinence, Keratitis, Weight loss, Arthralgia, Conjunctivitis, Iritis |
ORPHA:3385 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Abdominal pain, Weight loss |
OMIM:301074 |
Igg4-Related Kidney Disease |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:449395 |
17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis, Lis... |
ORPHA:97685 |
Viss Syndrome |
|
Inguinal hernia, Kyphosis, Scoliosis, Umbilical hernia, Failure to thrive, Contracture of the pro... |
OMIM:619472 |
Primary Fanconi Renotubular Syndrome |
|
Bone pain, Weight loss |
ORPHA:3337 |
Sarcoidosis, Susceptibility To, 1 |
|
Chest pain, Weight loss |
OMIM:181000 |
Goodpasture Syndrome |
|
Fatigue, Chills, Chest pain, Weight loss |
OMIM:233450 |
Yunis-Varon Syndrome |
|
Cataract, Small for gestational age, Anterior concavity of thoracic vertebrae, Sclerocornea, Fail... |
OMIM:216340 |
Alström Syndrome |
|
Thoracic scoliosis, Cataract, Dorsocervical fat pad, Urinary incontinence, Kyphosis, Posterior su... |
ORPHA:64 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Immunodeficiency 82 With Systemic Inflammation |
|
Abdominal pain, Weight loss |
OMIM:619381 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |