Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... |
ORPHA:2522 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... |
ORPHA:3268 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... |
ORPHA:1394 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Supern... |
ORPHA:64755 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia, Fused cervic... |
OMIM:612852 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... |
ORPHA:1354 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Scoliosis, Radioulnar synostosis, Ab... |
ORPHA:1988 |
Kniest Dysplasia |
|
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... |
ORPHA:485 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Ankle flexion contrac... |
OMIM:305620 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Irregular ossification... |
OMIM:109400 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... |
OMIM:616549 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... |
ORPHA:1801 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Sacral dimple |
OMIM:618845 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... |
OMIM:265000 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology |
OMIM:608406 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Beaking of vertebral bodies, Rib fusion, Pectus excavatum, Narrow chest, Bifid ... |
OMIM:213980 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... |
ORPHA:3320 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Scoliosis, Missing ribs, Block verte... |
ORPHA:50 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... |
OMIM:135100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Hemivertebrae, Scoliosis, Missing ri... |
OMIM:304050 |
Atelosteogenesis, Type I |
|
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Neonatal death, Bel... |
OMIM:108720 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... |
ORPHA:2635 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Wide anterior fontanel, Recurrent fractures, Thin ribs, Decreased calvarial ossificatio... |
OMIM:259420 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... |
OMIM:617796 |
Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Rib fusion, Scoliosis, Ankle clonus |
OMIM:614688 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Anterior radial head dislocation, Limited pronation/supination of forearm, H... |
OMIM:610967 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Kbg Syndrome |
|
Delayed skeletal maturation, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent ... |
ORPHA:2332 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... |
OMIM:619227 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... |
OMIM:609052 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... |
ORPHA:1836 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis |
ORPHA:261197 |
Metatropic Dysplasia |
|
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... |
OMIM:156530 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... |
OMIM:151200 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... |
OMIM:610017 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... |
ORPHA:2990 |
Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof |
OMIM:617159 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:312150 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Limited pronation/s... |
ORPHA:1724 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... |
ORPHA:313892 |
Osteogenesis Imperfecta, Type Xii |
|
Scoliosis, Wormian bones, Osteoporosis, Pectus carinatum, Generalized osteoporosis |
OMIM:613849 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:253290 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Narrow chest, Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density,... |
ORPHA:163649 |
Stuve-Wiedemann Syndrome 2 |
|
Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Thrombocytopenia, Stillbirth, Tho... |
OMIM:619751 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic hypopl... |
OMIM:166210 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck, Neutropenia |
OMIM:609053 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... |
OMIM:618395 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Platyspondyly, Scoliosis, Osteoporosi... |
OMIM:619131 |
1P36 Deletion Syndrome |
|
Spinal canal stenosis, Kyphosis, Bifid ribs, Rib fusion, Joint stiffness, Annular pancreas, Delay... |
ORPHA:1606 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis,... |
OMIM:614856 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed skeletal maturation, Rib fusion, Wide anterior fontanel, Pectus excavatum, Dislocated rad... |
OMIM:268310 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, L... |
ORPHA:93267 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... |
ORPHA:93351 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Fibrochondrogenesis 1 |
|
Widely patent coronal suture, Widely patent sagittal suture, Wide anterior fontanel, Joint contra... |
OMIM:228520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Death in infancy... |
OMIM:617405 |
Frontometaphyseal Dysplasia |
|
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand,... |
ORPHA:1826 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... |
OMIM:271650 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... |
OMIM:187760 |
Verheij Syndrome |
|
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion |
OMIM:615583 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Bruck Syndrome 2 |
|
Flexion contracture, Osteopenia, Platyspondyly, Wormian bones, Pectus carinatum, Elbow flexion co... |
OMIM:609220 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of... |
ORPHA:83617 |
Cog1-Cdg |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... |
ORPHA:263508 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Kbg Syndrome |
|
Delayed skeletal maturation, Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, C... |
OMIM:148050 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Thoracic scoliosis, Pectus excavatum, Generalized joint laxity... |
ORPHA:508498 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Wormian bones, Vertebral arch... |
ORPHA:85184 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Genu varum, Carpal bone hypopl... |
OMIM:274000 |
Baller-Gerold Syndrome |
|
Rib fusion, Carpal synostosis, Coronal craniosynostosis, Carpal bone aplasia, Scoliosis, Spina bi... |
OMIM:218600 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Abnormal f... |
ORPHA:2021 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormality of the spleen, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:93941 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... |
ORPHA:268882 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... |
ORPHA:93315 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... |
ORPHA:2097 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... |
OMIM:101200 |
Craniometadiaphyseal Dysplasia |
|
Wide anterior fontanel, Sclerosis of skull base, Osteopenia, Scoliosis, Wormian bones, Genu varum... |
OMIM:269300 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Recurrent fractures, Thin ribs, Osteopenia, Barrel-shaped chest... |
OMIM:610915 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... |
ORPHA:1486 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Recurrent fractures, Wide anterior fontanel, Pectus excavatum, Multiple rib fractur... |
OMIM:610682 |
Axial Spondylometaphyseal Dysplasia |
|
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... |
ORPHA:168549 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... |
ORPHA:628 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Hype... |
ORPHA:970 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Large elbow, Prominent sternum, Hepatomegaly, Anterior beaking of lumbar vertebrae, Pla... |
OMIM:253000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... |
OMIM:263540 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... |
OMIM:617952 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Osteopenia, Decreased calvarial ossifi... |
OMIM:616229 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... |
OMIM:609616 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... |
OMIM:616294 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Joint stiffness, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... |
ORPHA:2771 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Dysplastic sacrum, Short ribs, Short neck, Wormian bones, Bell-shaped thorax, Sever... |
OMIM:613320 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... |
OMIM:151210 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Large fontanelles |
OMIM:616863 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Platyspondyly, Wormian bones |
OMIM:601356 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Pectus excavatum, Decreased calvarial ossification, Wormian bones, Pectus carinatum, Bowing of li... |
OMIM:259410 |
Juberg-Hayward Syndrome |
|
Scoliosis, Abnormality of the elbow, Radioulnar synostosis, Abnormal rib morphology, Abnormality ... |
ORPHA:2319 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... |
OMIM:130720 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Rib fusion, Abnormality of the vertebral column, Scoliosis, Abnormal form of the verteb... |
ORPHA:280 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoli... |
OMIM:252900 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid ribs, Rib fusion, Wide anterior fontanel, Camptodactyly of finger, 11 pairs of ribs, Scolio... |
OMIM:607872 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Prominent sternum, Hepatomegaly, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviatio... |
OMIM:253010 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta |
OMIM:607323 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Delayed skeletal maturation, Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Sh... |
OMIM:300232 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio... |
OMIM:184250 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Hemivertebrae, Scoliosis, Limited elbow movement... |
OMIM:134780 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Pectus excavatum, Delayed cranial suture closure, Scoliosis, Hyperlordosis, Abnormality of the wr... |
ORPHA:2511 |
Autosomal Recessive Robinow Syndrome |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Pectus excavatum, Camptodactyly of finger, S... |
ORPHA:1507 |
Gorlin Syndrome |
|
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion |
ORPHA:377 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostos... |
OMIM:157800 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... |
OMIM:230500 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Delayed skeletal maturation, Thoracic kyphosis, Platyspondyly, Wormian bones |
OMIM:619638 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... |
ORPHA:2050 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Otosclerosis, Recurrent fractures, Reduced bone mineral density, Biconcave flattened ve... |
OMIM:166220 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... |
ORPHA:2180 |
Schneckenbecken Dysplasia |
|
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... |
OMIM:269250 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... |
ORPHA:915 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... |
OMIM:611209 |
Hypophosphatasia, Infantile |
|
Stillbirth, Widely patent fontanelles and sutures, Short ribs, Vertebral clefting, Craniosynostos... |
OMIM:241500 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Large fontanelles |
ORPHA:87 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal rib morphology... |
ORPHA:2484 |
Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... |
OMIM:617137 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense... |
OMIM:252920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... |
ORPHA:2759 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... |
ORPHA:3027 |
Zttk Syndrome |
|
Kyphosis, Rib fusion, Flexion contracture, Craniosynostosis, Hemivertebrae, Scoliosis, Cervical r... |
OMIM:617140 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Arthrogryposis multiplex ... |
ORPHA:1145 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hepatomegaly, Splen... |
OMIM:252930 |
Pallister-Hall Syndrome |
|
Rib fusion, Hemivertebrae, Neonatal death, Radial head subluxation, Hip dislocation |
OMIM:146510 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90650 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:1834 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Joi... |
ORPHA:2475 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Hypoplastic acetabulae, Atlantoaxial instability, Horizontal inferio... |
ORPHA:239 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Sh... |
ORPHA:2347 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Splenomegaly, Tracheomalacia |
OMIM:616368 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... |
ORPHA:392 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Short neck, Large fontanelles |
ORPHA:1832 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... |
ORPHA:474 |
Pseudoachondroplasia |
|
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular car... |
OMIM:177170 |
Chromosome 16Q22 Deletion Syndrome |
|
Narrow chest, Wide anterior fontanel, Prominent metopic ridge, Short neck, Wormian bones |
OMIM:614541 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Stillbirth |
OMIM:200610 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral b... |
OMIM:608728 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Pectus excavatum, Congenital hip dislocation, Scoliosis, Wide cranial sutures, Wormian bones, Joi... |
OMIM:219150 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow extension, Delayed closure of th... |
OMIM:604922 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Abnormal thorax morphol... |
ORPHA:1318 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Wormian bones, Multiple small vertebral fractu... |
OMIM:619795 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, Platyspondyly, Short neck, W... |
OMIM:616897 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Delayed skeletal maturation, Carpal synostosis, C2-C3 subluxation,... |
OMIM:272460 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Abnormal t... |
OMIM:253310 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Cooper-Jabs Syndrome |
|
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... |
ORPHA:1488 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Joint stiffness, Splenomegaly, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies |
ORPHA:583 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Sacral dimple |
ORPHA:544488 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... |
OMIM:203500 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Neonatal death, Absent ossification of thoracic... |
OMIM:601376 |
Wolf-Hirschhorn Syndrome |
|
Delayed skeletal maturation, Kyphosis, Rib fusion, Abnormal sternal ossification, Accessory splee... |
OMIM:194190 |
Robinow Syndrome |
|
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar disloc... |
ORPHA:97360 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Anterior vertebral fusion, Long clavicles, Shoulder dislocation, Genu varum, Radioulnar synostosi... |
OMIM:171480 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... |
ORPHA:2876 |
Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Large fontanelles, ... |
ORPHA:436 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs |
OMIM:608940 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Congenit... |
ORPHA:2616 |
Cdags Syndrome |
|
Kyphosis, Short clavicles, Short ribs, Coronal craniosynostosis, Delayed cranial suture closure, ... |
OMIM:603116 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification |
ORPHA:93298 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs |
OMIM:610319 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Abnormal bone ossification, Hepatomegaly, Thin ribs, Hepatic hemangioma, Abnormal f... |
ORPHA:73230 |
Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Stillbirth, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, S... |
OMIM:200600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Pear-shaped vertebrae, Genu varum, ... |
OMIM:602111 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Sh... |
OMIM:245190 |
Dyggve-Melchior-Clausen Disease |
|
Prominent sternum, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Genu valgum,... |
OMIM:223800 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Scoliosis, Spina bifida occulta, Craniosynostosis |
OMIM:616602 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Wormian bones, H... |
OMIM:617821 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... |
ORPHA:96169 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Persistence of hemogl... |
OMIM:260400 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... |
OMIM:215140 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... |
OMIM:224300 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Scoliosis, Spina bifida occulta, Bicoronal synostosis, Delayed closure of the anterior fontanelle... |
OMIM:618736 |
Pycnodysostosis |
|
Narrow chest, Kyphosis, Abnormal clavicle morphology, Spondylolisthesis, Increased bone mineral d... |
ORPHA:763 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation ... |
ORPHA:90652 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Craniosynostosis, Short ribs, Shallow acetabular fossae, Scoliosis, Carpa... |
OMIM:252600 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Recurrent fractures, ... |
OMIM:231070 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Joint stiffness, Abnormality of mesentery morphology, Abnormally ossifie... |
ORPHA:2167 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Large posterior fontanelle, Coron... |
ORPHA:85199 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... |
OMIM:602196 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Splenomegaly, Abnormally ossified vertebrae |
ORPHA:3035 |
Otopalatodigital Syndrome, Type Ii |
|
Narrow chest, Wide anterior fontanel, Pectus excavatum, Sclerosis of skull base, Short ribs, Spon... |
OMIM:304120 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... |
OMIM:613848 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum |
ORPHA:3082 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... |
OMIM:607778 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... |
ORPHA:79345 |
Gapo Syndrome |
|
Wide anterior fontanel, Hepatomegaly, Delayed cranial suture closure, Scoliosis, Bell-shaped thor... |
OMIM:230740 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Pectus excavatum, Wormian bones |
OMIM:617808 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the lower limbs, Broad clavicles, Abnormal form of the ... |
ORPHA:371428 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... |
ORPHA:3258 |
Premature Aging Syndrome, Penttinen Type |
|
Osteopenia, Delayed cranial suture closure, Scoliosis, Wormian bones, Osteolytic defects of the p... |
OMIM:601812 |
Alagille Syndrome |
|
Vertebral segmentation defect, Hepatomegaly, Reduced number of intrahepatic bile ducts, Abnormal ... |
ORPHA:52 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Osteopenia, Wormian bones, Incr... |
OMIM:166200 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed skeletal maturation, Limitation... |
ORPHA:3068 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Hemivertebrae, Cervical ribs, Metopic synostosi... |
ORPHA:500150 |
Cleidocranial Dysplasia |
|
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... |
ORPHA:1452 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Hepatomegaly, Splenomegaly, Camptodactyly of... |
ORPHA:93473 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Death in infancy, Abnormal rib morphology |
ORPHA:1120 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Pectus carinatum, Hyperlordosis, Short thorax, Scapu... |
OMIM:612921 |
Lateral Meningocele Syndrome |
|
Kyphosis, Pectus excavatum, Prominent metopic ridge, Short neck, Scoliosis, Abnormal form of the ... |
ORPHA:2789 |
Pycnodysostosis |
|
Spondylolisthesis, Increased bone mineral density, Spondylolysis, Scoliosis, Wormian bones, Aplas... |
OMIM:265800 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Flexion contracture, Delayed cranial suture closure, Scoliosis, Pectus carinatum, D... |
OMIM:619383 |
Osteogenesis Imperfecta, Type Xx |
|
Narrow chest, Kyphoscoliosis, Asymmetry of the thorax, Wormian bones, Vertebral compression fract... |
OMIM:618644 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Delayed skeletal maturation, Neutropenia |
ORPHA:2643 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Death in infancy, Thin ribs |
ORPHA:163966 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Thin clavicles, Delayed cranial suture closure, Calvarial osteosclerosis, Delayed skel... |
ORPHA:93324 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Dysostosis, Stanescu Type |
|
Kyphosis, Pectus excavatum, Increased bone mineral density, Short neck, Scoliosis, Wormian bones,... |
ORPHA:1798 |
Koolen-De Vries Syndrome |
|
Kyphosis, Pectus excavatum, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermob... |
OMIM:610443 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Pectus excavatum, Osteopenia, Congenital hip dislocation, Scoliosis, Wormian bones, Joint hypermo... |
OMIM:612940 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Wide anterior fontanel, Pectus excavatum, Genu recurvatum, Lateral clavic... |
OMIM:182212 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus ... |
ORPHA:175 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Hemiver... |
ORPHA:958 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Poland Syndrome |
|
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... |
ORPHA:2911 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... |
ORPHA:444077 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormality of the pancreas, Abnormal rib morphology, Abnormality ... |
ORPHA:887 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Hepatomegaly, Accelerated skeletal maturation, H... |
ORPHA:373 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Asymmetry of the thorax, Osteopetrosis, Delayed cranial suture cl... |
ORPHA:2780 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... |
ORPHA:2769 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Joint dislocation, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophi... |
OMIM:618019 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Kyphoscoliosis, Metatarsal osteolysis, Osteopenia, Camptodactyly of toe, Wide cr... |
OMIM:259600 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Hepatic calcification, Osteomalacia, Abnormal calcification of the carp... |
ORPHA:51608 |
Trisomy 13 |
|
Narrow chest, Kyphosis, Abnormality of the fontanelles or cranial sutures, Scoliosis, Abnormal ri... |
ORPHA:3378 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Narrow chest, Camptodactyly of finger, Short neck, Scoliosis, Abno... |
ORPHA:96061 |
Van Maldergem Syndrome 2 |
|
Narrow chest, Wide anterior fontanel, Short clavicles, Tracheomalacia, Osteopenia, Scoliosis, Wid... |
OMIM:615546 |
Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Thin ribs, Flexion contracture, Scoliosis, Wide cranial sutures, Osteoporosis, P... |
OMIM:614008 |
Grant Syndrome |
|
Down-sloping shoulders, Wormian bones |
OMIM:138930 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Butterfly vertebrae, Posterior rib fusion, Neonatal death, Asplenia |
OMIM:265380 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Platyspondyly, Broad clavicles, Pectus... |
OMIM:304150 |
Cleidocranial Dysplasia 1 |
|
Narrow chest, Kyphosis, Short clavicles, Spondylolisthesis, Increased bone mineral density, Short... |
OMIM:119600 |
Van Maldergem Syndrome 1 |
|
Narrow chest, Wide anterior fontanel, Short clavicles, Tracheomalacia, Osteopenia, Scoliosis, Wid... |
OMIM:601390 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... |
OMIM:308205 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... |
OMIM:250420 |
Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Delayed cr... |
ORPHA:83 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Cubitus valgus, Joint hyp... |
OMIM:114620 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... |
OMIM:224690 |
Cantú Syndrome |
|
Narrow chest, Accelerated skeletal maturation, Platyspondyly, Short neck, Osteoporosis, Broad rib... |
ORPHA:1517 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Neonatal death, Short neck, Missing ribs |
OMIM:619859 |
Occipital Horn Syndrome |
|
Pectus excavatum, Osteopenia, Platyspondyly, Down-sloping shoulders, Pectus carinatum, Cholestasi... |
ORPHA:198 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... |
OMIM:227330 |
Otofacioosseous-Gonadal Syndrome |
|
Narrow chest, Carpal synostosis, Pectus excavatum, Wormian bones, Genu valgum, Delayed skeletal m... |
OMIM:601976 |
Mucopolysaccharidosis, Type Vi |
|
Avascular necrosis, Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Hyp... |
OMIM:253200 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis |
OMIM:251230 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum |
OMIM:211380 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Prolonged neonatal jaundice, Large posterior fontanelle, Delayed ... |
ORPHA:95717 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Ge... |
ORPHA:89936 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed skeletal maturation, Anemia, Congenital hip dislocation, Wormian bones |
OMIM:614450 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... |
ORPHA:800 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, Stiff neck |
OMIM:617022 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Osteomalacia, Rachitic rosary, Wide cranial sutures, Enlargement... |
ORPHA:289157 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatomegaly, Hepatoblastoma, ... |
ORPHA:96334 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Wide anterior fontanel, Short ribs, Large posterior fontanelle, Decreased calvarial... |
OMIM:617925 |
Greig Cephalopolysyndactyly Syndrome |
|
Accelerated skeletal maturation, Joint contracture of the hand, Craniosynostosis, Delayed cranial... |
OMIM:175700 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Osteopenia, Delayed cranial s... |
OMIM:249420 |
Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Pectus excavatum, Abnormal rib morphology |
ORPHA:3242 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow |
ORPHA:3015 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Radioulnar synostosis, Metacarpal synostosis, Flexion contract... |
ORPHA:95699 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Radioulnar synostosis, Abnormal rib morphology, Patellar aplasia, Delayed... |
OMIM:617604 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Prominent metopic ridge, Camptodactyly of finger, Scoliosis, Abnormal... |
ORPHA:2215 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Pectus excavatum, Long clavicles, Osteopenia, Osteoporosis, Wormian bones, Arthritis, Osteolytic ... |
OMIM:259100 |
Melnick-Needles Syndrome |
|
Narrow chest, Kyphoscoliosis, Pectus excavatum, Short clavicles, Delayed cranial suture closure, ... |
OMIM:309350 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Hepati... |
ORPHA:1163 |
Potocki-Shaffer Syndrome |
|
Wormian bones |
OMIM:601224 |
Hajdu-Cheney Syndrome |
|
Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Cervical instability, Osteopenia, S... |
OMIM:102500 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Platyspondyly, Abnorm... |
ORPHA:93317 |
Osteogenesis Imperfecta |
|
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Thoracic... |
ORPHA:666 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis |
ORPHA:1300 |
Diamond-Blackfan Anemia 1 |
|
Narrow chest, Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemia, Delayed cranial sut... |
OMIM:105650 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Myhre Syndrome |
|
Joint stiffness, Platyspondyly, Enlarged vertebral pedicles, Short neck, Camptodactyly, Broad rib... |
OMIM:139210 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Abnormality of the vertebral column,... |
ORPHA:77301 |
Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Wormian bones, Craniosynostosis |
OMIM:601853 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Increased sus... |
ORPHA:357058 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Pancreatic fibrosis, Platyspondyly, Pectus carin... |
OMIM:263520 |
Kyphomelic Dysplasia |
|
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Pterygium, Flat... |
OMIM:211350 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ge... |
OMIM:271640 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Wormian bones, Osteoporosis, Joint laxity, Increased susceptibility to fractures |
ORPHA:2788 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Wormian bones, Pathologic fracture |
ORPHA:166277 |
Aymé-Gripp Syndrome |
|
Craniosynostosis, Delayed cranial suture closure, Prominent metopic ridge, Scoliosis, Radioulnar ... |
ORPHA:1272 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Delayed cranial suture closure, Elbow dislocation, Large fontanelles |
ORPHA:2249 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Pallister-Hall Syndrome |
|
Rib fusion, Hemivertebrae, Distal arthrogryposis, Radial head subluxation, Hip dislocation |
ORPHA:672 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Wormian bones |
ORPHA:2863 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Hajdu-Cheney Syndrome |
|
Kyphosis, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Short neck, Biconcave vert... |
ORPHA:955 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Dubowitz Syndrome |
|
Wide anterior fontanel, Pectus excavatum, Craniosynostosis, Delayed cranial suture closure, Scoli... |
ORPHA:235 |
Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... |
ORPHA:3003 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Joint stiffness, Short clavicles, Hepatomegaly, Flexion contracture, Osteopenia, Delayed cranial ... |
OMIM:248370 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Flexion contracture, Delayed cranial suture closure, Acroosteolysis of distal ph... |
OMIM:608612 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Proximal radio-ulnar synostosis, Delayed cranial suture closure, Scoliosis, Abn... |
ORPHA:794 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Polycystic liver disease, Pancreatic fibrosis, Early ossification of ca... |
OMIM:208500 |
Ogden Syndrome |
|
Delayed cranial suture closure, Scoliosis |
ORPHA:276432 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Hyperextensibility of the finger joints, Delayed cranial suture ... |
OMIM:151050 |
Hallermann-Streiff Syndrome |
|
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Scoliosis, Wormian bon... |
OMIM:234100 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Widely patent fontanelles and sutures, Short sternum, Hepatoblastoma, Lo... |
OMIM:269150 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Hip dislocation, Delayed cranial suture closure, Wormian bones |
OMIM:616603 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Delayed skeletal maturation, Lumbar hyperlordosis, Pectus excavatum, Horizontal sacrum, Camptodac... |
OMIM:211910 |
Acrorenal-Mandibular Syndrome |
|
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Hemivertebrae, Hypoplastic scapulae... |
OMIM:200980 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Duane Retraction Syndrome |
|
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... |
ORPHA:233 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Joint stiffness, Pectus excavatum, Hepatomegaly, Thin ribs, Flexion contracture, Osteopenia, Dela... |
OMIM:619127 |
Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Delayed cranial suture closure, Scoliosis, Pectus carinatum, Campt... |
OMIM:611962 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Kyphoscoliosis, Abnormal clavicle morphology, Wide anterior fontanel, Sclerosis... |
ORPHA:798 |
D-Bifunctional Protein Deficiency |
|
Pectus excavatum, Hepatomegaly, Splenomegaly, Osteopenia, Delayed cranial suture closure, Cholest... |
OMIM:261515 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Prolonged neonatal jaundice, Large posterior fontanelle, Delayed ... |
ORPHA:95716 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Menkes Disease |
|
Wormian bones, Death in childhood, Joint laxity, Osteoporosis |
OMIM:309400 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Tenorio Syndrome |
|
Osteopenia, Scoliosis, Delayed cranial suture closure |
OMIM:616260 |
Mohr Syndrome |
|
Pectus excavatum, Scoliosis, Wormian bones |
OMIM:252100 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Scoliosis, Osteomalacia, Patholog... |
ORPHA:249 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Dislocation of the femoral head, Hip contracture, Kyphoscoliosis, Delayed cranial suture closure,... |
OMIM:210730 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... |
OMIM:250220 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Wrinkly Skin Syndrome |
|
Kyphosis, Wide anterior fontanel, Pectus excavatum, Osteopenia, Delayed cranial suture closure, C... |
OMIM:278250 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Lymphopenia, Craniosynostosis, Delayed cranial suture closure,... |
OMIM:620005 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Joint stiffness, Delayed cranial suture closure, Prominent metopic ridge, Short neck, Scoliosis, ... |
ORPHA:2995 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Marshall-Smith Syndrome |
|
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Pectus excavatum, Atlantoaxial dislocation, Short s... |
OMIM:602535 |
Mucopolysaccharidosis Type 3 |
|
Joint stiffness, Abnormal clavicle morphology, Hepatomegaly, Flexion contracture, Reduced bone mi... |
ORPHA:581 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Abnormality of the abdominal organs, Craniosynostosis, Osteopenia, ... |
ORPHA:2409 |
De Barsy Syndrome |
|
Kyphoscoliosis, Pectus excavatum, Generalized joint laxity, Osteopenia, Congenital hip dislocatio... |
ORPHA:2962 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:2 |