Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Back pain, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... |
OMIM:277300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Abnormal clavicle morphology... |
ORPHA:2522 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... |
ORPHA:3268 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... |
ORPHA:1394 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Pect... |
ORPHA:64755 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... |
OMIM:613686 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Joint swelling, Hepatomegaly, ... |
OMIM:612852 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Short thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Abnor... |
ORPHA:66637 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Death in infancy, Accelerated skeletal maturation, Narrow chest, Abnormal rib morpholog... |
ORPHA:1354 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Radioulnar synostosis, Abnormal sacrum morphology, Sprengel anomal... |
ORPHA:1988 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... |
ORPHA:2311 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Coat hanger sign of ribs, Wrist flexion contracture, Partial fusion of t... |
OMIM:305620 |
Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... |
OMIM:259440 |
Kniest Dysplasia |
|
Bell-shaped thorax, Short thorax, Arthropathy, Anterior vertebral fusion, Fused cervical vertebra... |
ORPHA:485 |
Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Abnormal sternum morphology, Vertebral fusion, Short ribs, Supernumerary ribs, Verteb... |
OMIM:109400 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... |
OMIM:616549 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Death in infancy, Vertebral segmentation defect |
OMIM:618845 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... |
ORPHA:1801 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Delayed cranial suture closure, Vertebral fusion, Hypoplastic sacrum, Wi... |
OMIM:113000 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bifid ribs, Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... |
OMIM:213980 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... |
ORPHA:2790 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Hepatoblastom... |
ORPHA:50 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... |
ORPHA:3320 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Supernumerary vertebrae, Vertebral fusion, Short ribs, Block vertebrae, Missing ribs, Short neck,... |
OMIM:271520 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Bell-shaped thorax, Neonatal death, Thoracic hypoplasia, Vertebral hypoplasia, ... |
OMIM:108720 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Hepatoblastom... |
OMIM:304050 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... |
OMIM:618000 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... |
OMIM:135100 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... |
ORPHA:2635 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Craniosynostosis, Multiple pterygia,... |
OMIM:178110 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Vertebral segmentation defect, Butterfly vertebrae, Camptodactyly, Kyphoscoliosis, Poster... |
OMIM:611209 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Wide ... |
OMIM:259420 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... |
ORPHA:2332 |
Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Short neck, Neonatal death, Arthrogryp... |
OMIM:618393 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... |
OMIM:617796 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... |
OMIM:619227 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Enlargement of the costochondral junction, Osteoporotic tarsals, Flat acetabular roof, Ovoid vert... |
OMIM:609052 |
Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Anterior radial head dislocation, Recurrent fractures, Hyperextensibi... |
OMIM:610967 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... |
ORPHA:1836 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Abnormal sternum morphology, Vertebral segmentation defect, Multiple pte... |
ORPHA:2990 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Metatropic Dysplasia |
|
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly |
ORPHA:168555 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:312150 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Craniosynostosis, Rib fusion, Abnormal vertebral morphology |
ORPHA:261197 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... |
ORPHA:313892 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cran... |
ORPHA:163649 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence, Thrombocytopenia... |
OMIM:619751 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... |
OMIM:618395 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis |
OMIM:617190 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck, Neutropenia |
OMIM:609053 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thoracolumbar scoliosis, Delayed cranial suture closure, Vertebral fusion, Hypoplastic sacrum, Wi... |
OMIM:268310 |
Osteogenesis Imperfecta, Type Xxi |
|
Bell-shaped thorax, Recurrent fractures, Barrel-shaped chest, Pectus excavatum, Joint hypermobili... |
OMIM:619131 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Large fontanelles, Short neck, Decreased skull ossifi... |
ORPHA:93267 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... |
ORPHA:93351 |
Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Beaded ribs, Multiple prenatal frac... |
OMIM:166210 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Bifid ribs, Delayed cranial suture closure, Camptodactyly of finger, Abnormalit... |
ORPHA:1606 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Fibrochondrogenesis 1 |
|
Thin clavicles, Thoracic hypoplasia, Anterior rib cupping, Short ribs, Joint contracture of the h... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Death in infancy, Lateral clavicle hook, Acetabular spurs, Narrow ch... |
OMIM:617405 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... |
OMIM:187760 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... |
OMIM:271650 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
Verheij Syndrome |
|
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Thanatophoric Dysplasia, Type Ii |
|
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Neonatal death, Sma... |
OMIM:187601 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... |
OMIM:206900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Kbg Syndrome |
|
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Cervical ribs, Short neck, Rib fusio... |
OMIM:148050 |
Cog1-Cdg |
|
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Hepatosplenomegaly, Kyp... |
ORPHA:263508 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Coronal craniosynostosis, Fused ce... |
ORPHA:83617 |
Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... |
OMIM:101200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormality of mesentery morphology, Abnormality of the spleen, Abnormal... |
ORPHA:93941 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Generalized joint laxity, Thoracic kyphosis, Fused cervical vertebrae, Th... |
ORPHA:508498 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Death in infancy, F... |
OMIM:274000 |
Grant Syndrome |
|
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Large fontan... |
ORPHA:2097 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Vertebral arch anomaly, Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad... |
ORPHA:85184 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Limited elbow extension and supination, Short neck |
OMIM:244600 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... |
ORPHA:1486 |
Osteogenesis Imperfecta, Type Viii |
|
Wide anterior fontanel, Kyphosis, Recurrent fractures, Joint laxity, Barrel-shaped chest, Multipl... |
OMIM:610915 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short ribs, Narr... |
ORPHA:2021 |
Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... |
OMIM:616294 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Wide anterior fontanel, Recurrent fractures,... |
OMIM:610682 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Wide anterior fontanel, Sclerosis of skull base, Scoliosis, Osteopenia, ... |
OMIM:269300 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo... |
ORPHA:628 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Abnormality of the knee, Foot acroosteolysis, Osteolysis, Abnormality of the ankle... |
ORPHA:970 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Multiple rib fractures, Joint hypermobility, Osteopenia, Decreased calvarial... |
OMIM:616229 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... |
OMIM:617952 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Axial Spondylometaphyseal Dysplasia |
|
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... |
ORPHA:168549 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... |
ORPHA:2771 |
Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Prominent sternum,... |
OMIM:253000 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... |
OMIM:609616 |
Baller-Gerold Syndrome |
|
Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow movement, Wide anterior fontanel, P... |
OMIM:218600 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Bell-shaped thorax, Severe platyspondyly, Short ribs, Short neck, Large fontanelles, Delayed skel... |
OMIM:613320 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Wormian bones, Platyspondyly |
OMIM:601356 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Bowing of limbs due to multiple fractures, Pectus excavatum, Multiple prenatal fractures, Decreas... |
OMIM:259410 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... |
ORPHA:2319 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Large fontanelles |
OMIM:616863 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Abnormality of the gallbladder, Abnormal thorax morphology, Abnormal ver... |
ORPHA:280 |
Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Hepatomegaly, Joint sti... |
OMIM:252900 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Sacral dimple, Kyphosis, Death in infancy, Vertebral segmentation defect... |
ORPHA:1507 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Abnormality of the wrist, Pectus excavatum, Large ... |
ORPHA:2511 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Delayed skeletal maturation, Wormian bones, Platyspondyly |
OMIM:619638 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis, Missing ribs, Radioulnar... |
OMIM:134780 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Bifid ribs, Delayed closure of the anterior fontanelle... |
OMIM:607872 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Short thorax, Joint dislocation, Kyphosis, Spinal canal stenosis, Sho... |
ORPHA:582 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... |
ORPHA:2050 |
Gorlin Syndrome |
|
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
Thakker-Donnai Syndrome |
|
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Otosclerosis, R... |
OMIM:166220 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Thoracic hypoplasia, Advanced ossification of carpal bones, Short ribs, Nar... |
OMIM:269250 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... |
ORPHA:915 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2180 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Short neck, Scoliosis, ... |
OMIM:230500 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Large fontanelles |
ORPHA:87 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... |
ORPHA:2484 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pectus excavatum, Di... |
OMIM:617137 |
Pallister-Hall Syndrome |
|
Hip dislocation, Rib fusion, Hemivertebrae, Neonatal death, Radial head subluxation |
OMIM:146510 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Hepatomegaly, Joint stiffness, Spl... |
OMIM:252920 |
Hypophosphatasia, Infantile |
|
Vertebral clefting, Increased susceptibility to fractures, Anemia, Short ribs, Death in infancy, ... |
OMIM:241500 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly |
OMIM:614524 |
Osteogenesis Imperfecta, Type Xii |
|
Recurrent fractures, Hyperextensibility of the finger joints, Generalized osteoporosis, Scoliosis... |
OMIM:613849 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Short neck, Camptodactyly of finger |
ORPHA:1703 |
Zttk Syndrome |
|
Absent gallbladder, Flexion contracture, Kyphosis, Cervical ribs, Joint hypermobility, Rib fusion... |
OMIM:617140 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... |
ORPHA:2759 |
Osteogenesis Imperfecta, Type Xiii |
|
Enlarged thorax, Recurrent fractures, Increased bone mineral density, Joint hypermobility, Disloc... |
OMIM:614856 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Hepatomegaly, Beak... |
OMIM:252930 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... |
ORPHA:1145 |
Caudal Regression Syndrome |
|
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Abnormality of the liver, Vertebral segmentation defect, Missing ribs, S... |
ORPHA:1834 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... |
OMIM:300232 |
White Forelock With Malformations |
|
Spina bifida occulta, Delayed skeletal maturation, Joint hyperflexibility, Sprengel anomaly, Abno... |
ORPHA:2475 |
Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... |
ORPHA:392 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Posterior rib cupping, Ovoid vertebr... |
OMIM:608728 |
Chromosome 16Q22 Deletion Syndrome |
|
Wide anterior fontanel, Short neck, Narrow chest, Prominent metopic ridge, Wormian bones |
OMIM:614541 |
Chops Syndrome |
|
Tracheomalacia, Splenomegaly, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... |
OMIM:151210 |
Pseudoachondroplasia |
|
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... |
OMIM:177170 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Wide anterior fontanel, Short ribs, Hypoplastic vertebral bodies, Short nec... |
ORPHA:2347 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Abnormality of the liver, Narrow chest, Abnormal clavi... |
ORPHA:474 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Short neck, Large fontanelles |
ORPHA:1832 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Asymmetry of t... |
OMIM:604922 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Platyspondyly, Scoliosis, Irregular acetabular roof,... |
OMIM:619698 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Abnormality of the pancreas, Death in infancy, Abnormal thorax morphology, Hepa... |
ORPHA:1318 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Wormian bon... |
OMIM:619795 |
Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... |
OMIM:272460 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Right unilambdoid synostosis, Spina bifida occulta, Scoliosis, Bi... |
OMIM:616602 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Biliary tract ... |
OMIM:194190 |
Lethal Congenital Contracture Syndrome 1 |
|
Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arthrogryposis mul... |
OMIM:253310 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... |
ORPHA:1488 |
Phaver Syndrome |
|
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2876 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Pectus excavatum, Joint hypermobility, Sh... |
OMIM:130720 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness |
OMIM:608940 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones |
ORPHA:2787 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
Hypophosphatasia |
|
Anemia, Recurrent fractures, Large fontanelles, Narrow chest, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Robinow Syndrome |
|
Radioulnar dislocation, Missing ribs, Kyphoscoliosis, Rib fusion, Scoliosis, Hemivertebrae, Fused... |
ORPHA:97360 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Arthritis, Low back pain, Limited hip movement, Limited ... |
OMIM:203500 |
3M Syndrome |
|
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... |
OMIM:253010 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Sclerotic scapulae, Lumbar platyspondyly, Neona... |
OMIM:601376 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Abnormal bone ossification, Abnormal thorax morphology, Elevat... |
ORPHA:73230 |
Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Kyphosis, Short ribs, Coronal craniosy... |
OMIM:603116 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Short neck, Ovoid vertebral bodies, Joint stiffness, Broad ribs, Splenomegaly |
ORPHA:583 |
Larsen Syndrome |
|
Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Join... |
OMIM:150250 |
Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Short thorax, Horizontal inferior border of scapula, Broad ribs, Hypoplastic acetabu... |
ORPHA:239 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Pla... |
OMIM:602111 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:93298 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Beaking of vertebral bodies, Flat glenoid fossa, Lumbar hyperlordosis,... |
OMIM:223800 |
Achondrogenesis, Type Ia |
|
Bell-shaped thorax, Hypoplastic sacrum, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... |
OMIM:200600 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... |
ORPHA:96169 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping... |
OMIM:260400 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Hyperextensibility of the finger joints, Hip dislocation, Joint hypermob... |
OMIM:617821 |
Pycnodysostosis |
|
Delayed cranial suture closure, Hyperlordosis, Increased susceptibility to fractures, Spondylolys... |
ORPHA:763 |
Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Coronal craniosynostosis, Scoliosis, Osteopenia, Reduced bone mineral densit... |
OMIM:112240 |
Osteogenesis Imperfecta, Type X |
|
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Death in childhood, Multiple rib frac... |
OMIM:613848 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Epiphyseal stippling, Hepatos... |
OMIM:215140 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... |
ORPHA:90652 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Short thorax, Aplastic clavicle, Wide anterior fontanel, Kyphosis... |
ORPHA:85199 |
Dysosteosclerosis |
|
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... |
OMIM:224300 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hip dislocation, Pectus excavatum, Joint hypermobility, Congenital hip dislocation, Wide cranial ... |
OMIM:219150 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormality of mesentery morphology, Join... |
ORPHA:2167 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Tracheobronchomalacia, Camptodactyly, Hip dislocation, Pectus excavatum, Short nec... |
OMIM:613458 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus exc... |
OMIM:602196 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Splenomegaly |
ORPHA:3035 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Short neck, Pectus carinatum, Kyphosis |
ORPHA:3082 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Sclerotic cranial sutures, Arthropathy, Broad clavicles, A... |
ORPHA:371428 |
Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... |
OMIM:252600 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... |
ORPHA:3258 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Wormian bones, Pectus excavatum |
OMIM:617808 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... |
OMIM:607778 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Barrel-shaped chest, Stillbirth |
OMIM:200610 |
Cleidocranial Dysplasia |
|
Genu valgum, Recurrent fractures, Narrow chest, Down-sloping shoulders, Abnormal sacrum morpholog... |
ORPHA:1452 |
Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Spina bifida occulta, Reduced number of ... |
ORPHA:52 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... |
ORPHA:3068 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Otosclerosis, Recurrent fractures, Joint hypermobility, Os... |
OMIM:166200 |
Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, H... |
OMIM:620076 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Sagittal craniosynostosis, Metopic synostosis, Cervical ribs, Joint hypermobi... |
ORPHA:500150 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... |
ORPHA:79345 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Kyphosis, Pectus excavatum, Wormian bones, Short neck, Scoliosis, Joint hyperflexi... |
ORPHA:2789 |
Hurler Syndrome |
|
Camptodactyly of finger, Abnormality of the elbow, Death in infancy, Spinal canal stenosis, Abnor... |
ORPHA:93473 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect, Death in infancy |
ORPHA:1120 |
Pycnodysostosis |
|
Spondylolysis, Aplastic clavicle, Increased bone mineral density, Spondylolisthesis, Scoliosis, O... |
OMIM:265800 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Pectus excavatum, Joint hypermobility... |
OMIM:610443 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, Delayed skeletal maturation, Scoliosis, Hepa... |
OMIM:619383 |
Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Short neck, Delayed skeletal maturation, Scapular winging, Thin ribs... |
OMIM:612921 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Neutropenia, Delayed skeletal maturation |
ORPHA:2643 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Narrow chest, Vertebral com... |
OMIM:618644 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Increased bone mineral density, Pectus excavatum, Short neck, Scoliosis,... |
ORPHA:1798 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Kyphosis, Butterfly vertebrae, Hip dislocation, Abnormal clavicle morphology, S... |
ORPHA:958 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Wide anterior fontanel, Joint contracture of the hand, Craniosynostosis, Supernumera... |
OMIM:182212 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Calvarial osteosclerosis, Delayed skeletal matura... |
ORPHA:93324 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Death in infancy, Thin ribs |
ORPHA:163966 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... |
ORPHA:444077 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Pectus excavatum, Joint hypermobility, Congenital hip dislocation, Large fontanelles, Scoliosis, ... |
OMIM:612940 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder, Vertebral segmentation defect, Abnor... |
ORPHA:887 |
Poland Syndrome |
|
Abnormal sternum morphology, Abnormality of the liver, Kyphosis, Short ribs, Finger symphalangism... |
ORPHA:2911 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Vertebral fusion, Death in infancy, Vertebral segmentation defect, Polys... |
ORPHA:373 |
Van Maldergem Syndrome 1 |
|
Sacral dimple, Wide anterior fontanel, Narrow chest, Camptodactyly, Joint laxity, Wide cranial su... |
OMIM:601390 |
Cartilage-Hair Hypoplasia |
|
Short neck, Delayed skeletal maturation, Hepatomegaly, Limited elbow extension, Abnormal rib morp... |
ORPHA:175 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... |
ORPHA:2772 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Thoracolumbar scoliosis, Hyperlordosis, Genu valgum, Thoracic hypoplasia, Knee f... |
OMIM:618019 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... |
ORPHA:2769 |
Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Wide cra... |
OMIM:614008 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders |
OMIM:138930 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu varum, Genu valgum, Irregular chondrocostal junctions, Short ribs, Joint laxity, Carpal bone... |
OMIM:250420 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Protrusio acetabuli, Hip c... |
OMIM:259600 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Increased bone mineral density, Spina bifida occul... |
ORPHA:2780 |
Gapo Syndrome |
|
Delayed cranial suture closure, Bell-shaped thorax, Delayed closure of the anterior fontanelle, W... |
OMIM:230740 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Narrow chest, Vertebral segmentation defect, Limitatio... |
ORPHA:96061 |
Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... |
ORPHA:83 |
Cleidocranial Dysplasia 1 |
|
Increased susceptibility to fractures, Spondylolysis, Aplastic clavicle, Kyphosis, Short ribs, Na... |
OMIM:119600 |
Trisomy 13 |
|
Kyphosis, Narrow chest, Scoliosis, Abnormal rib morphology, Abnormality of the fontanelles or cra... |
ORPHA:3378 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Pancreatic calcification, Stippled calcification of the shoulder, Osteom... |
ORPHA:51608 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Posterior rib fusion, Butterfly vertebrae, Annular pancreas, Neonatal death |
OMIM:265380 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Hip dislocation, Abnormality of the wrist, Pectus excavatum, Oste... |
ORPHA:198 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Abnormal rib cage morphology, Pectus exc... |
OMIM:227330 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ... |
OMIM:224690 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Anterior wedging of L1, Hypoplastic acetabulae, Flexion contracture, Prominent stern... |
OMIM:253200 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Anemia, Delayed skeletal maturation, Wormian bones |
OMIM:614450 |
X-Linked Hypophosphatemia |
|
Genu varum, Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Enthe... |
ORPHA:89936 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum |
OMIM:211380 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Increased bone mineral density, Pectus excavatum, Elbow dislocation, S... |
ORPHA:800 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Joint contracture of the hand, Camptodactyly of toe, Accelerated ... |
OMIM:175700 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Recurrent fractures, Cervical ribs, Flexion contracture of finger... |
OMIM:601812 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Increased susceptibility to fractures, Enlargement of the costochondral junction, Ost... |
ORPHA:289157 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Knee flexion contracture, Proximal symphalangism of hands, Humero... |
OMIM:151050 |
Renpenning Syndrome |
|
Abnormal rib morphology, Sprengel anomaly, Joint stiffness, Pectus excavatum |
ORPHA:3242 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Sacral dimple, Wide anterior fontanel, Narrow chest, Joint laxity, Wide cranial ... |
OMIM:615546 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Absent gallbladder, Wide anterior fontanel, Short ribs, Long thorax, Large poste... |
OMIM:617925 |
Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Wide anterior fontanel, Kyphosis, Broad clavicles, Anterior conca... |
OMIM:249420 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Occipital Horn Syndrome |
|
Genu valgum, Limited elbow extension, Broad ribs, Kyphosis, Capitate-hamate fusion, Narrow chest,... |
OMIM:304150 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Large posterior fontanelle, Prolonged neonatal jaundice, Delayed ... |
ORPHA:95717 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Thoracic hypoplasia, Epiphyseal stippling, Camptodactyly, Pectus excavatum, ... |
ORPHA:96334 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Abnormality of the wrist... |
ORPHA:95699 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies |
ORPHA:3015 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Kyphosis, Pectus excavatum, Scoliosis, Abnormal rib morphology, Prominen... |
ORPHA:2215 |
Aspergillosis |
|
Osteomyelitis, Hepatitis, Eosinophilia, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:1163 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis |
ORPHA:1300 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Arthropathy, Arthritis, Limitation of joint mobi... |
OMIM:259100 |
Potocki-Shaffer Syndrome |
|
Wormian bones |
OMIM:601224 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Genu valgum, Nar... |
OMIM:309350 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Delayed cranial suture closure, Reticulocytopenia, Bifid thoracic vertebrae, Hy... |
OMIM:105650 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Jo... |
ORPHA:357058 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Accelerated skeletal maturation, Delayed skeletal maturation, Platyspondyly, Abnorm... |
ORPHA:93317 |
Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Large fontane... |
ORPHA:666 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Myhre Syndrome |
|
Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... |
OMIM:139210 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Wide anterior fontanel, Wormian bones |
OMIM:601853 |
Monosomy 9Q22.3 |
|
Kyphosis, Accelerated skeletal maturation, Pectus excavatum, Short neck, Joint hyperflexibility, ... |
ORPHA:77301 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Thoracic hypoplasia, Flat acetabular roof, Pterygium, Limitation of joint m... |
OMIM:211350 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Missing ribs |
ORPHA:3301 |
Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short ribs, Splenic cyst, Wide cranial sutures, Fractured rib, Osteopenia, N... |
OMIM:618188 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Limitation of joint mobility, Wormian bones |
ORPHA:166277 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Abnormal thorax morphology, Supernumerary ribs, Radioulnar synost... |
ORPHA:1272 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Joint laxity, Osteopenia, Osteoporosis, Wormian bones |
ORPHA:2788 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Hip dislocation, Dis... |
OMIM:271640 |
Pallister-Hall Syndrome |
|
Distal arthrogryposis, Hip dislocation, Rib fusion, Hemivertebrae, Radial head subluxation |
ORPHA:672 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Joint stiffness, Large fontanelles, Elbow dislocation |
ORPHA:2249 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Wormian bones |
ORPHA:2863 |
Dubowitz Syndrome |
|
Delayed cranial suture closure, Sacral dimple, Anemia, Wide anterior fontanel, Acute lymphoblasti... |
ORPHA:235 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Hepatic fibrosis, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Pancrea... |
OMIM:263520 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Flexion contracture, Acroosteolysis of distal phalanges (feet), E... |
OMIM:248370 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, Patellar dislocation, Kyphosis, Recurrent fractures, Osteolysis, Oste... |
ORPHA:955 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short thorax, Unossified sacrum, Short ribs, Poorly ossified ve... |
ORPHA:3003 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Abnormal rib cage morphology, Pectus excavatum, Joint hypermobility, Decreased num... |
OMIM:234100 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Tenorio Syndrome |
|
Delayed cranial suture closure, Joint laxity, Osteopenia, Scoliosis |
OMIM:616260 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Biconcave vertebral bodies, Genu valgum, Foot ac... |
OMIM:102500 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Scoliosis, Craniosynostosis, Abnormal form of the ... |
ORPHA:794 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Osteopenia, Wormian bones |
OMIM:616603 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Pancreatic cysts, Hepatic fibrosis, Short ribs, Death in infancy, Jaundice, Thor... |
OMIM:208500 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed cranial suture closure, Flexion contracture, Acroosteolysis of distal phalanges (feet), W... |
OMIM:608612 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Spondylolysis, Wide anterior fontanel, Short ribs, El... |
OMIM:304120 |
Ogden Syndrome |
|
Delayed cranial suture closure, Scoliosis |
ORPHA:276432 |
Duane Retraction Syndrome |
|
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... |
ORPHA:233 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Sacrococcygeal teratoma, Metopic suture patent to nasal root, Increased density of... |
OMIM:269150 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Elbow flexion contracture, Missing ribs, Butterfly vertebrae, Hip d... |
OMIM:200980 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Hunter-Macdonald Syndrome |
|
Delayed cranial suture closure, Joint contracture of the hand, Camptodactyly, Premature osteoarth... |
OMIM:611962 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Wide anterior fontanel, Abnormal thorax morphology, Radioulnar synostosis, Camp... |
ORPHA:798 |
D-Bifunctional Protein Deficiency |
|
Delayed cranial suture closure, Thoracic hypoplasia, Elevated hepatic transaminase, Pectus excava... |
OMIM:261515 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Large posterior fontanelle, Prolonged neonatal jaundice, Delayed ... |
ORPHA:95716 |
Craniosynostosis 2 |
|
Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Craniosynostosis, Wormian bones |
OMIM:604757 |
Menkes Disease |
|
Osteoporosis, Death in childhood, Joint laxity, Wormian bones |
OMIM:309400 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Osteomalacia, Abnormal lumbar spine morphology, Rickets, Osteo... |
ORPHA:249 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Genu valgum, Fle... |
OMIM:619127 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Mohr Syndrome |
|
Scoliosis, Wormian bones, Pectus excavatum |
OMIM:252100 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Horizontal inferior border of scapula, Short ribs, Flat acetabular roof, Large ... |
OMIM:250220 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Delayed cranial suture closure, Knee flexion contracture, Hip contracture, Severe generalized ost... |
OMIM:210730 |
Marshall-Smith Syndrome |
|
Short sternum, Recurrent fractures, Kyphosis, Decreased hip abduction, Thoracic kyphosis, Atlanto... |
OMIM:602535 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Wide anterior fontane... |
OMIM:278250 |
De Barsy Syndrome |
|
Delayed closure of the anterior fontanelle, Generalized joint laxity, Pectus excavatum, Congenita... |
ORPHA:2962 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Delayed cranial suture closure, Short neck, Large fontanelles, Scoliosis, Osteochondrosis, Promin... |
ORPHA:2995 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Delayed cranial suture closure, Hepatic fibrosis, Anemia, Elevated hepatic tran... |
OMIM:620005 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Bell-shaped thorax, Rib gap, Thoracic hypoplasia, Anomalous rib insertion to ve... |
OMIM:117650 |
Mucopolysaccharidosis Type 3 |
|
Increased susceptibility to fractures, Genu valgum, Flexion contracture, Avascular necrosis of th... |
ORPHA:581 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Osteopenia, Small anterior fontanelle, Widely patent coronal... |
ORPHA:2409 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Congenital hip dislocation, Abnormal rib m... |
ORPHA:1666 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Congenital hip dislocation, Missing ribs |
ORPHA:1647 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Hepatocellular carcinoma, Delayed skeletal maturation |
OMIM:180860 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Delayed skeletal maturation, Scoliosis |
ORPHA:813 |
Alagille Syndrome 1 |
|
Cirrhosis, Hepatic failure, Prolonged neonatal jaundice, Butterfly vertebral arch, Exocrine pancr... |
OMIM:118450 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Aplastic clavicle, Kyphosis, Increased bone mineral density, Elbo... |
ORPHA:2658 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Acroosteolysis of distal phalanges (feet), Aplasia/Hypoplasia of the clavicl... |
ORPHA:90153 |
Hennekam-Beemer Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Mastocytosis, Scoliosis |
ORPHA:2135 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures |
OMIM:619149 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Block vertebrae, Absence of the sacrum, Polysplenia, Congenital hip di... |
OMIM:306955 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Short neck, Delayed skeletal maturation, Osteopenia, Abnormal rib morphology |
ORPHA:488434 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Trisomy 1Q |
|
Abnormal rib morphology, Camptodactyly of finger, Short thorax |
ORPHA:261344 |
White-Sutton Syndrome |
|
Short neck, Hypoplastic cervical vertebrae, Joint laxity, Wormian bones |
OMIM:616364 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Recurrent fractures, Narrow chest, Bone pain, Hepatomegaly, Abnormal rib morphology, Oste... |
ORPHA:667 |
Alg9-Cdg |
|
Delayed cranial suture closure, Abnormal bone ossification, Wide anterior fontanel, Periportal fi... |
ORPHA:79328 |
Ogden Syndrome |
|
Delayed cranial suture closure, Microvesicular hepatic steatosis, Wide anterior fontanel, Jaundic... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Short ribs, Aplasia of the epiglottis, Hepatomegaly, Narrow chest, Splenomegaly,... |
OMIM:617088 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Myhre Syndrome |
|
Abnormal rib morphology, Joint stiffness, Platyspondyly |
ORPHA:2588 |
Trisomy 10P |
|
Absent gallbladder, Abnormal hip joint morphology, Camptodactyly, Wide cranial sutures, Hemiverte... |
ORPHA:171929 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Menkes Disease |
|
Chondrocalcinosis, Osteomyelitis, Prolonged neonatal jaundice, Recurrent fractures, Pectus excava... |
ORPHA:565 |
Medulloblastoma |
|
Delayed cranial suture closure, Back pain, Elevated hepatic transaminase |
ORPHA:616 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure, Jaundice, Prolonged neonatal jaundice |
OMIM:613038 |
Marbach-Rustad Progeroid Syndrome |
|
Short clavicles, Wormian bones, Reduced bone mineral density |
OMIM:619322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Broad ribs, Prominent sternum, Humeroradial synostosis, Broad clavicles, Elbow flexion contractur... |
OMIM:276820 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Distal arthrogryposis, Joint dislocation, Generalized joint laxit... |
OMIM:601776 |
Monosomy 9P |
|
Limitation of joint mobility, Short neck, Scoliosis, Abnormal rib morphology, Abnormality of the ... |
ORPHA:261112 |
Vater/Vacterl Association |
|
Abnormal sternum morphology, Radioulnar synostosis, Abnormal vertebral morphology, Large fontanel... |
OMIM:192350 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Anemia, Patellar dislocation, Kyphosis, Recurrent fractures, Osteomalacia, Arthritis... |
ORPHA:534 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Flexion contracture, Patellar dislocation, Wide anterior fontanel... |
OMIM:180849 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure |
ORPHA:1129 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste... |
ORPHA:470 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Abnormality of the gallbladder, Hip dislocation, Short neck, Scoliosis, Abnormal rib mo... |
ORPHA:818 |
Ulbright-Hodes Syndrome |
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Ovoid thoracolumbar vertebrae, Short sternum, Humeroradial synostosis, Short ribs, Short neck, Ab... |
ORPHA:3404 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
Autosomal Dominant Cutis Laxa |
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Delayed cranial suture closure, Hip dislocation, Joint laxity, Wormian bones, Scoliosis, Osteopen... |
ORPHA:90348 |
Coffin-Siris Syndrome 12 |
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Delayed cranial suture closure, Hip subluxation, Radioulnar synostosis, Elevated hepatic transami... |
OMIM:619325 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Delayed cranial suture closure, Accelerated skeletal maturation, Scoliosis |
OMIM:618653 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Autosomal Recessive Cutis Laxa Type 1 |
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Delayed cranial suture closure, Wide anterior fontanel, Hip dislocation, Joint laxity, Joint subl... |
ORPHA:90349 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Trisomy 18 |
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Abnormal rib morphology, Camptodactyly of finger, Delayed skeletal maturation, Abnormality of the... |
ORPHA:3380 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Delayed cranial suture closure, Large fontanelles, Sacral dimple |
ORPHA:2211 |
Wrinkly Skin Syndrome |
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Delayed closure of the anterior fontanelle, Generalized joint laxity, Pectus excavatum, Congenita... |
ORPHA:2834 |
Craniofacial Microsomia |
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Genu valgum, Vertebral hypoplasia, Block vertebrae, Cervical ribs, Scoliosis, Hemivertebrae |
OMIM:164210 |
Pagod Syndrome |
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Abnormal rib morphology, Abnormality of the spleen, Abnormal clavicle morphology, Death in infancy |
ORPHA:991 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Hypermobile Ehlers-Danlos Syndrome |
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Joint dislocation, Osteoarthritis, Abnormality of the wrist, Hip dislocation, Limitation of joint... |
ORPHA:285 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior... |
ORPHA:226307 |
Curry-Jones Syndrome |
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Unicoronal synostosis, Wormian bones, Bicoronal synostosis |
OMIM:601707 |
Lysosomal Acid Lipase Deficiency |
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Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormal rib morphology, Camptodactyly of finger, Joint hyperflexibility |
ORPHA:2907 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Charge Syndrome |
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Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density |
ORPHA:138 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... |
OMIM:309000 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Ayme-Gripp Syndrome |
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Delayed cranial suture closure, Camptodactyly, Radioulnar synostosis, Pectus excavatum |
OMIM:601088 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypercholesterolemia, Hyperuricemia, Hyperlipidemia, Xanthelasma, Hypertriglyceridemia |
ORPHA:79259 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Kindler Epidermolysis Bullosa |
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Abnormal rib morphology, Camptodactyly of finger, Anemia, Flexion contracture |
ORPHA:2908 |
Yunis-Varon Syndrome |
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Short ribs, Hip dislocation, Aplasia/Hypoplasia of the clavicles, Absent sternal ossification, Wi... |
ORPHA:3472 |
Yunis-Varon Syndrome |
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Aplastic clavicle, Kyphosis, Anterior concavity of thoracic vertebrae, Flat acetabular roof, Hip ... |
OMIM:216340 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Delayed cranial suture closure, Anemia, Calvarial osteosclerosis, Delayed skeletal maturation, De... |
ORPHA:93325 |
Charge Syndrome |
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Down-sloping shoulders, Lymphopenia, Scoliosis, Abnormal rib morphology, Hemivertebrae, Radial he... |
OMIM:214800 |
Pallister-Killian Syndrome |
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11 pairs of ribs, Delayed cranial suture closure, Sacral dimple, Flexion contracture, Wide anteri... |
OMIM:601803 |
Townes-Brocks Syndrome |
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Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia |
ORPHA:273 |
Saethre-Chotzen Syndrome |
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Delayed cranial suture closure, Lambdoidal craniosynostosis, Coronal craniosynostosis, Radioulnar... |
OMIM:101400 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |