Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Small for gestational age, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Scoliosis |
OMIM:617404 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
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 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... |
OMIM:618097 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Slender build, Hyperlordosis |
ORPHA:352470 |
Xeroderma Pigmentosum, Complementation Group F |
|
Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Astigmatism, Scolio... |
OMIM:278760 |
Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... |
ORPHA:97244 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Cataract, Small for gestational age |
ORPHA:85288 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight |
OMIM:618392 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis |
ORPHA:363454 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618524 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Scoliosis, Hyperlordosis |
ORPHA:408 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Keloids, Decreased testicular size |
ORPHA:3085 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis |
ORPHA:157973 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture, Elbow flexion con... |
ORPHA:267 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Achilles tendon contracture, 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 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... |
OMIM:618363 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build |
OMIM:161800 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis |
OMIM:252605 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, S... |
OMIM:300624 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis |
OMIM:615761 |
Winchester Syndrome |
|
Kyphosis, Corneal opacity |
OMIM:277950 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity |
OMIM:609308 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma |
OMIM:612713 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Bethlem Myopathy 2 |
|
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis |
OMIM:616471 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618323 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cryptorchidism, Cataract, Scoliosis, Hyperlordosis |
ORPHA:1387 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:617352 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract, Decreased testicular size |
ORPHA:1875 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Kyphoscoliosis |
ORPHA:251383 |
Nemaline Myopathy 2 |
|
Spinal rigidity, Hyperlordosis, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... |
OMIM:256030 |
Myopathy, Scapulohumeroperoneal |
|
Achilles tendon contracture, Increased connective tissue, Scoliosis, Hyperlordosis |
OMIM:616852 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Defective DNA repair after ultraviolet radiation damage, C... |
OMIM:610965 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... |
OMIM:619542 |
Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Immunodeficiency 54 |
|
Chromosome breakage, Failure to thrive |
OMIM:609981 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:255200 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Hyperlordosis |
OMIM:162370 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Ataxia-Telangiectasia |
|
Failure to thrive, Abnormality of chromosome stability, Abnormal testis morphology |
ORPHA:100 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... |
ORPHA:3041 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Ankle flexion contracture, Scoliosis, Hyperlordosis |
OMIM:617760 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cataract, Cervical kyphosis, Kyphoscolios... |
OMIM:255800 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis |
OMIM:255310 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98855 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Scoliosis, Hyperlordosis |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Hyperlordosis |
OMIM:615156 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Achilles tendon c... |
ORPHA:98863 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... |
OMIM:616817 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive |
OMIM:620007 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr... |
OMIM:253000 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive |
ORPHA:796 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... |
OMIM:184250 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98853 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Hyperlordosis |
OMIM:160150 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:613156 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Oculoskeletodental Syndrome |
|
Hyperlordosis, Developmental cataract, Thoracic kyphosis, Scoliosis, Enamel hypoplasia |
ORPHA:557003 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal... |
OMIM:301900 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy |
OMIM:615980 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... |
ORPHA:582 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scolios... |
OMIM:618484 |
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 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Hyperlordosis |
ORPHA:1192 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Shagreen patch, Scoliosis, Hyperlordosis |
ORPHA:2511 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Microcornea, Scoliosis, Abnormality of the cervical ... |
ORPHA:48431 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive, Flexion contracture |
OMIM:618237 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Kyphosis, Abnormal fo... |
ORPHA:2635 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Chromosomal breakage in... |
OMIM:609053 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Failure to thrive |
OMIM:617883 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptodactyly of finge... |
OMIM:114300 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... |
OMIM:234250 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive |
ORPHA:319199 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
Baralle-Macken Syndrome |
|
Kyphosis, Cataract, Obesity |
OMIM:619255 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... |
OMIM:253010 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... |
OMIM:314580 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Hypomelanosis Of Ito |
|
Kyphosis, Cataract, Iris coloboma, Scoliosis |
OMIM:300337 |
Intellectual Disability And Myopathy Syndrome |
|
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti... |
OMIM:278730 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Abnormality of the vertebral column, Hyperlordosis |
ORPHA:52430 |
Three M Syndrome 1 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... |
OMIM:273750 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis |
OMIM:167320 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Flexion contracture, Hyperlordosis |
OMIM:611588 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis |
ORPHA:893 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus... |
ORPHA:354 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo... |
ORPHA:171436 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity,... |
OMIM:617114 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Small for gestational age, Kyphosis, Cryptorchidism, Congenital contracture, Joi... |
ORPHA:352490 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... |
OMIM:169550 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Scoliosis |
OMIM:617244 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... |
OMIM:617796 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Spinal canal stenosis, Developmental cataract, Scoliosis, Cerv... |
ORPHA:436174 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... |
ORPHA:2789 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Microphthalmia, Lenz Type |
|
Cataract, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Microcornea, Scoliosi... |
ORPHA:568 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Abnormality of chromosome stability, Abnormal vertebral morphology, Sho... |
OMIM:300514 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture |
OMIM:618658 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Hyperlordosis |
OMIM:617450 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:253700 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Scoliosis |
OMIM:618234 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Cryptorchidism, Flexion contracture, Anterior wedging of T12, Deficien... |
OMIM:227645 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Obesity, Scoliosis |
OMIM:618443 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture |
ORPHA:353327 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Shagreen patch |
ORPHA:2617 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
ORPHA:353 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:611890 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... |
ORPHA:93352 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis... |
OMIM:615834 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Patent ductus arteriosus, Cryptorchidism, Astigmatism, Scoliosis |
OMIM:619797 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:612921 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Hyperlordosis |
ORPHA:369840 |
Trichothiodystrophy |
|
Multiple joint contractures, Cryptorchidism, Absence of subcutaneous fat, Defective DNA repair af... |
ORPHA:33364 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Corneal erosion, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Hyperlordosis, Patent ductus arteriosus, Coronal cleft vertebrae, Scoliosis, Butterfly vertebrae |
OMIM:618870 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Posterior subcapsular cataract, Bilateral camptodactyly, Lumbar ... |
OMIM:619234 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract |
OMIM:610756 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Congenital Myopathy 10B, Mild Variant |
|
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis |
OMIM:620249 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight |
OMIM:615222 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Short neck |
OMIM:610832 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Cryptorchidism, Astigmatism, Hernia, Enamel hypoplasia, Failure to thrive, A... |
OMIM:617052 |
Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Kyphosis, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis |
ORPHA:435387 |
Muscular Dystrophy, Duchenne Type |
|
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Knee flexion contracture, Hamstr... |
OMIM:310200 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... |
ORPHA:75840 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Cryptorchidism |
ORPHA:2471 |
3Mc Syndrome |
|
Hyperlordosis, Bilateral cryptorchidism, Abnormal anterior chamber morphology, Prominent coccyx, ... |
ORPHA:293843 |
Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Cataract, Scoliosis |
ORPHA:2047 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Bethlem Myopathy |
|
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... |
ORPHA:610 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... |
ORPHA:174 |
Alpha-Mannosidosis |
|
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis |
ORPHA:61 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... |
ORPHA:1427 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia |
OMIM:618272 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger |
ORPHA:2848 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:300986 |
Joubert Syndrome 37 |
|
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size, Obesity |
OMIM:619185 |
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 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Bilateral cr... |
OMIM:242900 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Obesity, Scoliosis |
OMIM:618124 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
3M Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... |
ORPHA:2616 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Camptodactyly, Hyperlordosis |
OMIM:619980 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Chromosomal breakage ... |
OMIM:603467 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Hyperlordosis |
OMIM:600462 |
Schwartz-Jampel Syndrome |
|
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Hyperlordosis,... |
ORPHA:800 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom... |
ORPHA:175 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Cataract, Scoliosis |
OMIM:614409 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... |
OMIM:230000 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Spin... |
OMIM:277600 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Small for gestational ... |
OMIM:600901 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Lumbar hyperlordosis, Abnormality iris morphology, Cataract |
ORPHA:370959 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Flexion contracture, Developmental cataract, Scoliosis, Failure to thrive |
OMIM:248800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Scoliosis, Failure to thrive |
OMIM:613327 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris col... |
ORPHA:391474 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteri... |
OMIM:608328 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Small for gestational ... |
OMIM:227650 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Hyperlordosis |
ORPHA:169186 |
Cohen Syndrome |
|
Small for gestational age, Thoracic scoliosis, Lumbar hyperlordosis, Childhood-onset truncal obesity |
OMIM:216550 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:1798 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... |
OMIM:607095 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly |
OMIM:615065 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Kyphosis, Keratoglobus, Astigmatism, Distal arthrogryposis, Scoliosis, Congenital fi... |
OMIM:108145 |
Icf Syndrome |
|
Umbilical hernia, Abnormality of chromosome stability |
ORPHA:2268 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation, Scoliosis |
ORPHA:171844 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... |
OMIM:619040 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium |
ORPHA:2771 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... |
OMIM:616200 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis |
ORPHA:763 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Cataract, Block vertebrae, Hyperlordosis, Short neck, Hypoplas... |
OMIM:272460 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hernia |
ORPHA:812 |
Lig4 Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
Nail-Patella Syndrome |
|
Back pain, Keratoconus, Lumbar hyperlordosis, Cataract, Antecubital pterygium, Microcornea, Scoli... |
OMIM:161200 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Cryptorchidi... |
OMIM:210900 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:3191 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Flexion contracture, Obesity, Scoliosis, ... |
OMIM:615547 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Umbilical hernia, Scoliosis |
ORPHA:2181 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Harrod Syndrome |
|
Cataract, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive |
ORPHA:2115 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck, Cryptorchidism, Patent ... |
OMIM:609625 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Small for gestational age, Short n... |
ORPHA:1830 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Small for gestational age, Kyphoscoliosis |
OMIM:607371 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Opacification of the corneal stroma, Hernia, Failur... |
ORPHA:583 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Trichorhinophalangeal Syndrome Type 1 |
|
Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Cataract, Lumbar hyperlordosis, Inguinal hernia, Cryptorchidism, Developmenta... |
OMIM:212720 |
Ruvalcaba Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis, Cryptorchidism |
OMIM:180870 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Hypoplastic sacrum, Chromosomal breakage induced by crosslinking agents, Sho... |
OMIM:614083 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... |
OMIM:215150 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Lipoatrophy, Scoliosis |
ORPHA:64755 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Cryptorchidism, Scoliosis,... |
OMIM:615381 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Leukocoria, Megalocornea |
OMIM:268130 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Obesity, Sc... |
ORPHA:94065 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... |
ORPHA:2839 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
Fucosidosis |
|
Corneal opacity, Lipoatrophy, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive |
ORPHA:349 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Paten... |
ORPHA:457395 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Cataract, Scoliosis |
ORPHA:79107 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... |
OMIM:613385 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Deficient excision of UV-ind... |
OMIM:227646 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... |
ORPHA:2311 |
Trisomy 13 |
|
Cataract, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Sco... |
ORPHA:3378 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obesity, Flexion contracture of toe |
ORPHA:3409 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Cataract, Cryptorchidism, Patent ductus arteriosus, Weight l... |
ORPHA:84 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis |
ORPHA:3068 |
Nail-Patella Syndrome |
|
Back pain, Lester's sign, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint o... |
ORPHA:2614 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... |
OMIM:271510 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:464282 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slender build |
OMIM:254090 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Obesity, Astigmatism |
OMIM:616078 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radia... |
OMIM:278800 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Patent ductus arteriosus, Astigmatism, Spina bifida occulta |
ORPHA:96148 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity |
ORPHA:352447 |
Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Hyperlordosis, Cryptorchidism, Scoliosis, Iris coloboma |
OMIM:234100 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis |
OMIM:162300 |
Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Developmental cataract, Conjunctivitis, ... |
ORPHA:90322 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:250420 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Kyphoscoliosis, Hyperlordosis, Ankle flexion cont... |
ORPHA:2020 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hyperlordosis |
ORPHA:26791 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Patent... |
OMIM:609029 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism, Joint contracture, Lumbar hyperlordosis |
OMIM:602471 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Cataract |
ORPHA:324737 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
Alexander Disease |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:58 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:628 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe, Joint contracture of th... |
OMIM:300280 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Lens subluxation, Scoliosis |
OMIM:609008 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis |
ORPHA:236 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Stickler Syndrome, Type I |
|
Cataract, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Sp... |
OMIM:108300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Hyperlordosis, Flexion contracture, Scoliosis, Decreased body weight |
ORPHA:258 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Scoliosis, C... |
OMIM:609128 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... |
OMIM:253200 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Kyphosis, Hemivertebrae, Abn... |
ORPHA:2916 |
Distal Triplication 15Q |
|
Corneal dystrophy, Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contrac... |
ORPHA:314588 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Kyphosis, Contracture of the distal in... |
OMIM:607015 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... |
OMIM:618291 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... |
ORPHA:93360 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis |
ORPHA:702 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Short neck |
OMIM:608776 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... |
OMIM:619636 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Lumbar hyperlordosis, Small for gestational age |
ORPHA:1439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Scoliosis, Hyperlordosis |
OMIM:615356 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Saethre-Chotzen Syndrome |
|
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Abdominal obesity, Decreased testicular size, Cryptorchidism |
OMIM:300354 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis |
ORPHA:3253 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Cachexia, Short neck |
ORPHA:647 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Pelger-Huet Anomaly |
|
Kyphosis, Failure to thrive, Umbilical hernia |
OMIM:169400 |
Camurati-Engelmann Disease |
|
Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Abnormality of ... |
ORPHA:1328 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... |
ORPHA:2479 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Failure to thrive, Cataract, Scoliosis |
OMIM:617988 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Hernia of the abdominal wall, Short neck |
ORPHA:3082 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Cowden Syndrome 5 |
|
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma |
OMIM:615108 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Patent ductus arteriosus, Flexion contracture, Lumbar kyphosis,... |
ORPHA:505248 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorch... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorch... |
ORPHA:363958 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Myopic astigmatism, Obesity, Hyperlordosis |
OMIM:301066 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Kyphosis, Platyspondyly |
ORPHA:93274 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Scoliosis |
OMIM:301041 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Small for gestational age, Kyph... |
OMIM:610443 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Cowden Syndrome 6 |
|
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma |
OMIM:615109 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... |
OMIM:250250 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Chromosomal breakage induced by ionizing radiation, Weight loss |
ORPHA:420741 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Obesity |
ORPHA:261222 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis, Dec... |
ORPHA:85293 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Inguinal hernia, Short neck, Cr... |
OMIM:305450 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Kyphosis, Absence of subcutaneo... |
OMIM:616914 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Astigmatism, Scoliosis |
OMIM:618493 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size, Short neck |
ORPHA:251028 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:254346 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Umbilical hernia, Hyperlordosis |
ORPHA:221139 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
ORPHA:261190 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
Marden-Walker Syndrome |
|
Inguinal hernia, Short neck, Cryptorchidism, Kyphosis, Congenital contracture, Scoliosis, Camptod... |
OMIM:248700 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis |
OMIM:616449 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:268 |
Micro Syndrome |
|
Cataract, Kyphosis, Cryptorchidism, Microcornea, Scoliosis |
ORPHA:2510 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Cryptorchidism, Patent ductus arteriosus... |
OMIM:130720 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis |
OMIM:259420 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Slender build, Scoliosis, Cryptorchidism |
ORPHA:364028 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperlordosis, Cryptorchidism, Obesity, Truncal obesity, Astigmatism, Scoliosis, Failure to thrive |
OMIM:615873 |
Hurler Syndrome |
|
Inguinal hernia, Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexi... |
OMIM:607014 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Abnormal dental enamel morphology, Kyphosis, Cryptorchidism, Vertebra... |
ORPHA:96169 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Macroor... |
OMIM:619950 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... |
OMIM:230500 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Failure to thrive, Scoliosis, Short neck |
ORPHA:420794 |
3C Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Iris coloboma |
ORPHA:7 |
Rett Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
OMIM:312750 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Scol... |
OMIM:620351 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:261318 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... |
OMIM:259770 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Hyperlordosis |
ORPHA:261330 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Knee flexion contracture |
OMIM:603387 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Patent ductus arteriosus, Scoliosis |
OMIM:617190 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Flexion contracture, Scoliosis, Hyperlordosis |
ORPHA:365 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus |
OMIM:619909 |
Cowden Syndrome 1 |
|
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma |
OMIM:158350 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Corne... |
OMIM:153400 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Cataract, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebral ... |
ORPHA:93357 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Failure to t... |
OMIM:617602 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Failure to thrive |
ORPHA:500055 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build |
ORPHA:457359 |
Williams Syndrome |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Megalocornea, Spina bifida ... |
ORPHA:904 |
Holt-Oram Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:392 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Corneal opacity, Small for gestational age, Ankle flexion contract... |
ORPHA:464311 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Cryptorchidism |
ORPHA:2075 |
Meningioma |
|
Back pain, Chromosomal breakage induced by ionizing radiation, Obesity |
ORPHA:2495 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
OMIM:617061 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos... |
ORPHA:536532 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Non-obstructive azoospermia, Kyphosis, Cryptorchidism, Contracture of the p... |
ORPHA:2232 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Alstrom Syndrome |
|
Kyphosis, Subcapsular cataract, Truncal obesity, Scoliosis |
OMIM:203800 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Cryptorchidism, Patent ductus arteriosus, Scoliosis, Peters anomaly |
OMIM:616975 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis |
ORPHA:1005 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis |
ORPHA:522077 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:404440 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the proximal interp... |
OMIM:618223 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
Monosomy 9Q22.3 |
|
Cataract, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral column, U... |
ORPHA:77301 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Corneal opacity, Small for gestational age, Kyphosis, Cryptorchidism... |
ORPHA:464306 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity |
OMIM:219080 |
Cohen Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Iris coloboma |
ORPHA:193 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal form... |
ORPHA:3042 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Cryptorchidism |
OMIM:619951 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Failure to thrive, Decreased testi... |
ORPHA:261349 |
Coffin-Lowry Syndrome |
|
Kyphosis, Cataract, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:192 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Cryptorchidism, Scoliosis, Arthrogryposis mul... |
ORPHA:2215 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus ... |
ORPHA:955 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism |
ORPHA:261250 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Kyphosis, Cryptorchidism, Develop... |
OMIM:133540 |
Classic Homocystinuria |
|
Cataract, Ectopia lentis, Kyphosis, Hernia, Scoliosis |
ORPHA:394 |
Ramon Syndrome |
|
Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight |
OMIM:266270 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Sclerocornea, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Abnormal ... |
ORPHA:280 |
Marfan Syndrome |
|
Inguinal hernia, Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Kyphosis, Hypoplasia of th... |
ORPHA:558 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Vertebral segment... |
ORPHA:251014 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Cryptorchidism, Flexion contracture, Increased body weight, Abdominal obesity, Scoliosi... |
ORPHA:398069 |
Marshall-Smith Syndrome |
|
Omphalocele, Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odon... |
OMIM:602535 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Weaver Syndrome |
|
Inguinal hernia, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis, Scoliosis,... |
OMIM:277590 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Macular scar |
OMIM:239000 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Contracture of the pro... |
ORPHA:464738 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contracture, Knee flexion co... |
OMIM:619194 |
Mend Syndrome |
|
Sacral dimple, Cataract, Failure to thrive, Kyphosis, Cryptorchidism, Anterior polar cataract |
OMIM:300960 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... |
OMIM:610915 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Sacral dimple, Inguinal hernia, Thoracolumb... |
OMIM:619503 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Patent ductus arteriosus, Decreased body weight, F... |
OMIM:618371 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Short neck, Kyphosis, Flexion contracture, Umbilical hernia |
OMIM:309900 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Abdominal obesity, Scoliosis, Ir... |
OMIM:176270 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Kyphosis, Sacral dimple, Developmental cataract |
OMIM:620185 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
ORPHA:476126 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis, Umbilical hernia |
OMIM:301040 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:1969 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Scoli... |
OMIM:616894 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Corneal scarring, Developmental cataract, Join... |
OMIM:309000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Mgat2-Cdg |
|
Kyphosis, Patent ductus arteriosus, Failure to thrive, Scoliosis |
ORPHA:79329 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity |
OMIM:610489 |
Branchiooculofacial Syndrome |
|
Cataract, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contracture, Atypica... |
OMIM:113620 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Flexion contracture |
OMIM:212065 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Failure to thrive,... |
OMIM:618050 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... |
OMIM:249420 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Failure to thrive, Contractures of the large joints |
OMIM:617527 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lisch nodules, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Kyphosis, Cryptorchidism, Atypica... |
OMIM:216400 |
Mend Syndrome |
|
Sacral dimple, Cataract, Kyphosis, Cryptorchidism, Failure to thrive |
ORPHA:401973 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Failure to thrive, Contractures of the large joints |
ORPHA:521426 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Noonan Syndrome 14 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:619745 |
Stickler Syndrome |
|
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Kyphosis, Spinal canal ste... |
ORPHA:828 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Aspartylglucosaminuria |
|
Cataract, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Macroorchidism, Beaking of v... |
OMIM:208400 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Cataract, Cachexia, Band keratopathy, Kyphosis, Cryptorchidi... |
ORPHA:191 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Decreased body weight, Scoliosis, Cryptorchidism |
OMIM:619005 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly, Cryptorchidism |
OMIM:619123 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Cowden Syndrome |
|
Cataract, Kyphosis, Scoliosis, Lipoma, Failure to thrive, Conjunctival hamartoma |
ORPHA:201 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Cockayne Syndrome Type 3 |
|
Cataract, Kyphosis, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Sc... |
ORPHA:90324 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology, Kyphosis, Cryptorc... |
ORPHA:534 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Inguinal hernia |
OMIM:609944 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Cataract, Small for gestational age, Failure to thrive in infancy, Inguinal hernia... |
ORPHA:268261 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619718 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2273 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Abnormal dental enamel morphology, Sclerocornea, Short neck, Congenital diaphragmatic h... |
ORPHA:818 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Failure to thrive |
OMIM:615512 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Patent ductus arteriosus afte... |
ORPHA:500150 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Arthrogrypos... |
ORPHA:2461 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... |
ORPHA:1507 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Localized hypoplasia of dental enamel, Hyperlordosis |
ORPHA:73223 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Kyphosis, Cryptorchidism, Multiple lipomas, Scoliosis, Lisch nodules, ... |
ORPHA:636 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Absence of subcutaneous fa... |
ORPHA:2911 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Osteogenesis Imperfecta |
|
Inguinal hernia, Corneal opacity, Cervical kyphosis, Small for gestational age, Abnormal dental e... |
ORPHA:666 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly |
ORPHA:1855 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Kyphosis, Knee flexion contracture, Weight loss, Umbilical hernia |
ORPHA:576 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Cataract, Overweight, Kyphosis, Obesity, Abnormal curvature of the vertebral column, S... |
OMIM:619475 |
1P36 Deletion Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Ocular alb... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Scoliosis, Slender build |
OMIM:300967 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Astigmatism, Scoliosis |
OMIM:619482 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
Zttk Syndrome |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive |
OMIM:617140 |
X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicu... |
ORPHA:3063 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Rieger anomaly, Small for gestational age, Kyphosis, Cryptorchid... |
OMIM:194190 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... |
ORPHA:198 |
Proteus Syndrome |
|
Central heterochromia, Cataract, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia... |
ORPHA:744 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Kyphosis, Cryptorchidism, Sco... |
ORPHA:2658 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Cryptorchidism, Microcornea, Ciliary body coloboma, Scolios... |
OMIM:309800 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis |
OMIM:119600 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Abnormal dental enamel morphology |
ORPHA:85199 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse |
OMIM:303600 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Patent... |
OMIM:135900 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Hiatus hernia |
OMIM:304150 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Umbilical hernia, Failure to thrive |
OMIM:278250 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... |
ORPHA:99226 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Cataract, Inguinal hernia, Ankle flexion contracture, C... |
ORPHA:821 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Primrose Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Flexion contracture, Knee fl... |
OMIM:259050 |
Viss Syndrome |
|
Inguinal hernia, Kyphosis, Patent ductus arteriosus, Scoliosis, Umbilical hernia, Failure to thri... |
OMIM:619472 |
17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis, Lis... |
ORPHA:97685 |
Acromegaly |
|
Kyphosis, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
|
Kyphosis, Spinal canal stenosis |
ORPHA:314769 |
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, Testicular fibrosis, Kyphosis, Posterior sub... |
ORPHA:64 |