| 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 |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Abnormal rib... |
ORPHA:2522 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Hyperlordosis, Short neck, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc... |
OMIM:613686 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical v... |
OMIM:612852 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... |
ORPHA:1354 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
| Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... |
ORPHA:1988 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... |
OMIM:305620 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, Ab... |
ORPHA:485 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... |
OMIM:109400 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Scoliosis, Hepatoblast... |
ORPHA:50 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... |
ORPHA:3320 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Atelosteogenesis, Type I |
|
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... |
OMIM:108720 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid ribs, Scolios... |
OMIM:304050 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Hip dislocatio... |
OMIM:618000 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Cra... |
OMIM:178110 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Thrombocytopenia, Giant platelets, Ri... |
OMIM:611209 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Arthrogryp... |
OMIM:618393 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis |
ORPHA:261197 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... |
ORPHA:2990 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... |
ORPHA:313892 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof |
OMIM:617159 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Tho... |
OMIM:619751 |
| Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis |
ORPHA:1445 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Missing ribs, Pectus... |
OMIM:268310 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
| Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Neutropenia, Short neck |
OMIM:609053 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Large fontanelles, Platyspondy... |
ORPHA:93267 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Abnormality of the spleen, Kyphosis, ... |
ORPHA:1606 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, L... |
OMIM:166210 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, O... |
ORPHA:93351 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Widely patent sagittal suture, Short ... |
OMIM:228520 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... |
OMIM:617405 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short neck, Delayed epiphyseal ossification, Delayed skeletal maturation, Large... |
OMIM:613320 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement of the costochondra... |
OMIM:271650 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Pectus cari... |
OMIM:609220 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... |
OMIM:148050 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Long clavicles, Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the d... |
ORPHA:83617 |
| Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... |
ORPHA:508498 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abnormal form ... |
ORPHA:93941 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... |
ORPHA:85184 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Eosinophilia, Pancreatic cysts, Lateral clavicle hook, Leukocytosis, Patellar a... |
OMIM:274000 |
| Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Large fontanelles, Decreased skull ossification, Join... |
ORPHA:2097 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone... |
ORPHA:93315 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of... |
ORPHA:1486 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Cubitus valgus, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Scolios... |
OMIM:269300 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... |
OMIM:616229 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... |
ORPHA:970 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... |
ORPHA:168549 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, ... |
OMIM:253000 |
| Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
| Baller-Gerold Syndrome |
|
Bicoronal synostosis, Anomalous splenoportal venous system, Limited elbow movement, Sagittal cran... |
OMIM:218600 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoli... |
OMIM:252900 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Pectus excavatum, Multiple prenatal fractures, Pectus carinatum, Decreased calvarial ossification... |
OMIM:259410 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... |
ORPHA:2319 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Protrusio acetabuli, ... |
OMIM:610682 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Abnormality ... |
ORPHA:280 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis,... |
ORPHA:1507 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Missing ribs, Humeroradial synostosis, Rib fusion, Hemivertebrae, Absent ... |
OMIM:134780 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense... |
OMIM:252920 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... |
OMIM:187601 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anter... |
OMIM:607872 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... |
OMIM:157800 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Pectus excavatum, Large fontanelles, Scoliosis, Abnormality of the wrist, Delayed ... |
ORPHA:2511 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Platyspondyly, Thoracic kyphosis, Delayed skeletal maturation |
OMIM:619638 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2050 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... |
ORPHA:915 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... |
OMIM:610968 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... |
OMIM:617137 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Apert Syndrome |
|
Vertebral segmentation defect, Large fontanelles, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... |
ORPHA:2484 |
| Pallister-Hall Syndrome |
|
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Neonatal death |
OMIM:146510 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar ... |
OMIM:252930 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Thickened ribs, Short neck, Joint stiffness, Splenomegaly, Kyphos... |
OMIM:230500 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Pectus carinatum, Sco... |
OMIM:613849 |
| Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... |
ORPHA:3027 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, An... |
OMIM:241500 |
| Zttk Syndrome |
|
Absent gallbladder, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, C... |
OMIM:617140 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Pectus carinat... |
OMIM:614856 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Short neck, Abnormality of the spleen, Abnormal rib morpho... |
ORPHA:1834 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... |
OMIM:300232 |
| White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Short neck, Wide anterior fontanel, Narrow chest, Wormian bones |
OMIM:614541 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Fractured radius, Beaded ribs, Short neck, Multiple prenatal ... |
OMIM:616897 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Large fontanelles, Delayed cranial suture closure, Short neck |
ORPHA:1832 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Splenomegaly, Tracheomalacia |
OMIM:616368 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
| Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs... |
OMIM:177170 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... |
OMIM:272460 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal c... |
ORPHA:2347 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormality of the liver, Ab... |
ORPHA:474 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Death in infancy, Pancreatic cysts, Abnormality of t... |
ORPHA:1318 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... |
OMIM:619795 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ... |
OMIM:616602 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... |
ORPHA:1488 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... |
OMIM:253310 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
| Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:2876 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Dela... |
OMIM:194190 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... |
OMIM:130720 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Large fontanelles, Abnormal rib morphology, Narrow chest, ... |
ORPHA:436 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... |
OMIM:171480 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| 3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral heig... |
ORPHA:2616 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal thorax morphology, Large fontanelles, Abnor... |
ORPHA:73230 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis |
ORPHA:97360 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, ... |
OMIM:253010 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... |
OMIM:150250 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Abnormality of the v... |
ORPHA:239 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short ribs, Lambdoidal craniosynostosis, ... |
OMIM:603116 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... |
OMIM:602111 |
| Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... |
OMIM:200600 |
| Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... |
ORPHA:96169 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anterior rib c... |
OMIM:260400 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... |
OMIM:617821 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... |
OMIM:613848 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Delayed skeletal maturation, ... |
OMIM:219150 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral density, Scoliosi... |
OMIM:112240 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... |
ORPHA:90652 |
| Pycnodysostosis |
|
Joint laxity, Abnormal clavicle morphology, Persistent open anterior fontanelle, Increased bone m... |
ORPHA:763 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, K... |
ORPHA:85199 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal mesentery morphology, Abnormal rib morphology, Joint stif... |
ORPHA:2167 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... |
OMIM:613458 |
| Coffin-Siris Syndrome 6 |
|
Pectus excavatum, Wormian bones, Kyphoscoliosis |
OMIM:617808 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
| Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum |
ORPHA:3082 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
| Cenani-Lenz Syndrome |
|
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... |
ORPHA:3258 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decrease... |
OMIM:620076 |
| Alagille Syndrome |
|
Hepatomegaly, Delayed skeletal maturation, Abnormal rib morphology, Cholestasis, Abnormal form of... |
ORPHA:52 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab... |
ORPHA:1452 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... |
ORPHA:3068 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Rib fusion, ... |
ORPHA:500150 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Abnormal form of ... |
ORPHA:2789 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Delayed skeletal maturation, Flexion contracture, Pectus carinatum, Scoliosis, Dela... |
OMIM:619383 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck... |
ORPHA:93473 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
| Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Narrow chest, Wormian bones... |
OMIM:618644 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Spondylol... |
OMIM:265800 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S... |
OMIM:612921 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Neutropenia |
ORPHA:2643 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... |
OMIM:182212 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o... |
ORPHA:93324 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... |
ORPHA:958 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Platyspondyly, Thin ribs |
ORPHA:163966 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Wormian bones, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... |
ORPHA:444077 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis, Pectus excava... |
ORPHA:1798 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Congenital hip dislocation, Pectus excavatum, Large fontanelles, Scoliosis, Wormian b... |
OMIM:612940 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... |
OMIM:618019 |
| Vacterl/Vater Association |
|
Abnormal intervertebral disk morphology, Abnormality of the pancreas, Abnormal sacrum morphology,... |
ORPHA:887 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Wide anterior fontanel, Radial hea... |
OMIM:601390 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal rib morphology, H... |
ORPHA:2911 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Vertebral fusion, Congenital hip dislocation, Death in infancy, Camptodactyly of fi... |
ORPHA:373 |
| Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Pectus carina... |
ORPHA:175 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, Large fontanelles, Asymmetry of the thorax, Osteop... |
ORPHA:2780 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Wide cranial sutures, Protrusio acetabuli, Interphalangeal joint con... |
OMIM:259600 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... |
OMIM:250420 |
| Grant Syndrome |
|
Wormian bones, Down-sloping shoulders |
OMIM:138930 |
| Gapo Syndrome |
|
Hepatomegaly, Joint hypermobility, Delayed closure of the anterior fontanelle, Wide anterior font... |
OMIM:230740 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... |
ORPHA:96061 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Hypoplastic scapulae, Wormian bones, Increased bone mineral ... |
OMIM:119600 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, Abnormal rib mor... |
ORPHA:83 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Hepatic calcificat... |
ORPHA:51608 |
| Trisomy 13 |
|
Kyphosis, Abnormal rib morphology, Abnormality of the fontanelles or cranial sutures, Narrow ches... |
ORPHA:3378 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Posterior rib fusion, Neonatal death, Annular pancreas, Butterfly vertebrae |
OMIM:265380 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture... |
OMIM:620369 |
| Occipital Horn Syndrome |
|
Osteopenia, Pectus carinatum, Narrow chest, Abnormality of the wrist, Osteomalacia, Aplastic clav... |
ORPHA:198 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... |
OMIM:227330 |
| Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... |
ORPHA:1517 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| Schwartz-Jampel Syndrome |
|
Short neck, Pectus carinatum, Wrist flexion contracture, Death in infancy, Abnormally ossified ve... |
ORPHA:800 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Ante... |
OMIM:253200 |
| Elsahy-Waters Syndrome |
|
Pectus excavatum, Cervical C2/C3 vertebral fusion |
OMIM:211380 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Wormian bones, Delayed skeletal maturation, Congenital hip dislocation, Anemia |
OMIM:614450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Accelerated skeletal maturation, Metopic synostosis, Camptodactyly of toe, Join... |
OMIM:175700 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
| Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... |
OMIM:601812 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum, Kyphosis,... |
OMIM:249420 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Wide anterior fontanel, Narrow che... |
OMIM:615546 |
| Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness |
ORPHA:3242 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... |
OMIM:151050 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Enlargement of the costochondral j... |
ORPHA:289157 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Large posterior fontanelle, Short neck, Lateral clavicle hook, Wide anterior ... |
OMIM:617925 |
| Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut... |
ORPHA:95717 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Radio-Renal Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
| Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Capitate-ha... |
OMIM:304150 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Hepatoblastoma, Hepatomegaly, Inter... |
ORPHA:96334 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebral ... |
ORPHA:95699 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... |
ORPHA:2215 |
| Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormality of the vertebral col... |
ORPHA:1163 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Potocki-Shaffer Syndrome |
|
Wormian bones |
OMIM:601224 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness |
ORPHA:1300 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Long clavicles, Pectus excavatum, Limitation of joint mobility, Large fo... |
OMIM:259100 |
| Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum,... |
OMIM:309350 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Wide anteri... |
ORPHA:357058 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... |
ORPHA:93317 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Wide anterior fontanel, Craniosynostosis |
OMIM:601853 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
| Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... |
ORPHA:77301 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr... |
OMIM:618188 |
| Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... |
OMIM:139210 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... |
OMIM:211350 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Short neck, Congenital hypoplastic anemia, Thrombocytopenia,... |
OMIM:105650 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Pathologic fracture, Limitation of joint mobility |
ORPHA:166277 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... |
OMIM:271640 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Wormian bones |
ORPHA:2788 |
| Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Abnormal thorax morphology, Limitation of joint mobili... |
ORPHA:1272 |
| Pallister-Hall Syndrome |
|
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Distal arthrogryposis |
ORPHA:672 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Camptodactyly of finger |
ORPHA:2863 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Lateral clavicle hook, Pectus carinatum, Platyspondyly, Hepatic fibrosis, Na... |
OMIM:263520 |
| Dubowitz Syndrome |
|
Sacral dimple, Craniosynostosis, Abnormality of neutrophils, Pectus excavatum, Wide anterior font... |
ORPHA:235 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness |
ORPHA:2249 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture ... |
OMIM:616603 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Sple... |
ORPHA:955 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Delayed cranial suture closure, Scoliosis |
OMIM:616260 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Hepatomegaly, Down-sloping shoulders, Joint stiffness, Flexion contracture, Elbow fle... |
OMIM:248370 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
| Hallermann-Streiff Syndrome |
|
Tracheomalacia, Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreas... |
OMIM:234100 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... |
ORPHA:3003 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Abnormal form of the vertebral ... |
ORPHA:794 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Osteoporosis,... |
OMIM:102500 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Wormian bones, Elbow contracture, Delayed closure of the anterior fon... |
OMIM:304120 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Scoliosis |
ORPHA:276432 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Lateral clavic... |
OMIM:208500 |
| Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Flexion contracture, Progressive clavicular acroosteolysis, Short clavi... |
OMIM:608612 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion... |
OMIM:200980 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Wormian bones, Increased density of long bones, Short ne... |
OMIM:269150 |
| Hunter-Macdonald Syndrome |
|
Delayed skeletal maturation, Premature osteoarthritis, Large fontanelles, Pectus carinatum, Scoli... |
OMIM:611962 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Delayed cranial suture closure, Pectus e... |
OMIM:261515 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Wormian bones, Myeloid leukemia, Kyphoscol... |
ORPHA:798 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis |
OMIM:604757 |
| Silver-Russell Syndrome 1 |
|
Delayed skeletal maturation, Delayed cranial suture closure, Hepatocellular carcinoma |
OMIM:180860 |
| Menkes Disease |
|
Wormian bones, Osteoporosis, Joint laxity, Death in childhood |
OMIM:309400 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Osteomalacia, Abnormal rib morphology, Bone pain, Rickets, Osteolys... |
ORPHA:249 |
| Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut... |
ORPHA:95716 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Elevated hemoglobin A1c, Joint stiffness... |
OMIM:619127 |
| Mohr Syndrome |
|
Pectus excavatum, Wormian bones, Scoliosis |
OMIM:252100 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Large posterior fontanelle, Short neck, Cupped ribs, Horizontal inferior border... |
OMIM:250220 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, Dysharmonic delayed bone age, K... |
OMIM:210730 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu... |
OMIM:602535 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell... |
ORPHA:2962 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Short neck, Joint stiffness, Large fontanelles, Scoliosis, Osteochondros... |
ORPHA:2995 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Joint hypermobility, Delayed closure of... |
OMIM:278250 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, 11 pairs of ribs, Severe B lymphocytopenia, Port... |
OMIM:620005 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Abnormality of the abdominal organs, Osteoporosis, Widely patent co... |
ORPHA:2409 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital fe... |
ORPHA:581 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormality of the spleen, Abnormal rib morphology, Abnormality of ab... |
ORPHA:1666 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Abnormal rib morphology, Hemivertebrae, ... |
OMIM:118450 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Silver-Russell Syndrome |
|
Delayed skeletal maturation, Delayed cranial suture closure, Scoliosis |
ORPHA:813 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures |
OMIM:619149 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Aplastic clavicle, Kyphosis, Delayed skeletal maturation, Limitat... |
ORPHA:2658 |
| Hennekam-Beemer Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Scoliosis, Mastocytosis |
ORPHA:2135 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Flexion contracture, Large fontanelles, Limitation of joint ... |
ORPHA:90153 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Bilia... |
OMIM:306955 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta |
ORPHA:488434 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Trisomy 1Q |
|
Short thorax, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:261344 |
| White-Sutton Syndrome |
|
Wormian bones, Hypoplastic cervical vertebrae, Joint laxity, Short neck |
OMIM:616364 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Bone ... |
ORPHA:667 |
| Ogden Syndrome |
|
Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocation, Short neck, Pect... |
OMIM:300855 |
| Alg9-Cdg |
|
Hepatomegaly, Prominent metopic ridge, Hepatic cysts, Short neck, Wide anterior fontanel, Peripor... |
ORPHA:79328 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles,... |
OMIM:617088 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Myhre Syndrome |
|
Platyspondyly, Abnormal rib morphology, Joint stiffness |
ORPHA:2588 |
| Trisomy 10P |
|
Absent gallbladder, Wide cranial sutures, Hemivertebrae, Camptodactyly, Abnormal hip joint morpho... |
ORPHA:171929 |
| Vater/Vacterl Association |
|
Abnormal rib morphology, Large fontanelles, Radioulnar synostosis, Abnormal sternum morphology, S... |
OMIM:192350 |
| Medulloblastoma |
|
Elevated hepatic transaminase, Back pain, Delayed cranial suture closure |
ORPHA:616 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Jaundice, Delayed cranial suture closure, Prolonged neonatal jaundice |
OMIM:613038 |
| Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Pectus excavatum, Osteoporosis, Joint hype... |
ORPHA:565 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Aplasia/Hypoplasia involving the carpal bones, Pilonidal sinus, Broad clavic... |
OMIM:276820 |
| Marbach-Rustad Progeroid Syndrome |
|
Wormian bones, Short clavicles, Reduced bone mineral density |
OMIM:619322 |
| Monosomy 9P |
|
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... |
ORPHA:261112 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morp... |
ORPHA:534 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Joint laxity, Pectus excavatum, Generalized joint laxity, Large fontanelles, D... |
OMIM:601776 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Joint laxity, Joint hypermobility, Pectus excavatum, Wide anterior fontanel, De... |
OMIM:180849 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure |
ORPHA:1129 |
| Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Abnormality of the gallbladder, Abnormal rib morphology, Hip dislocation, A... |
ORPHA:818 |
| Ulbright-Hodes Syndrome |
|
Short neck, Humeroradial synostosis, Ovoid thoracolumbar vertebrae, Abnormal rib morphology, Thin... |
ORPHA:3404 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, Scoliosis, Accelerated skeletal maturation |
OMIM:618653 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Joint laxity, Pectus excavatum, Ridged cranial sutures, Radioulnar... |
OMIM:619325 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral c... |
ORPHA:90348 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed skeletal maturation, Wide cranial sutures, Large fontanelles |
OMIM:257850 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell... |
ORPHA:2834 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De... |
ORPHA:90349 |
| Trisomy 18 |
|
Delayed skeletal maturation, Abnormal rib morphology, Camptodactyly of finger, Abnormality of the... |
ORPHA:3380 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Sacral dimple, Large fontanelles, Delayed cranial suture closure |
ORPHA:2211 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Short neck, Delayed proximal femoral epiphyseal ossification, Prolong... |
ORPHA:226307 |
| Pagod Syndrome |
|
Abnormality of the spleen, Abnormal rib morphology, Abnormal clavicle morphology, Death in infancy |
ORPHA:991 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
| Curry-Jones Syndrome |
|
Wormian bones, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Hereditary Acrokeratotic Poikiloderma |
|
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Charge Syndrome |
|
Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis |
ORPHA:138 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Ayme-Gripp Syndrome |
|
Pectus excavatum, Radioulnar synostosis, Delayed cranial suture closure, Camptodactyly |
OMIM:601088 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Kindler Epidermolysis Bullosa |
|
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger, Anemia |
ORPHA:2908 |
| Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the clavicles, Wide cranial sutures, Absent sternal ossification, Aplasia/H... |
ORPHA:3472 |
| Yunis-Varon Syndrome |
|
Wide cranial sutures, Hypoplastic scapulae, Absent sternal ossification, Down-sloping shoulders, ... |
OMIM:216340 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Delayed skeletal maturation, Decreased skull ossification, Calvar... |
ORPHA:93325 |
| Charge Syndrome |
|
Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosi... |
OMIM:214800 |
| Pallister-Killian Syndrome |
|
11 pairs of ribs, Sacral dimple, Congenital hip dislocation, Kyphoscoliosis, Short neck, Wide ant... |
OMIM:601803 |
| Townes-Brocks Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Saethre-Chotzen Syndrome |
|
Coronal craniosynostosis, Radioulnar synostosis, Delayed cranial suture closure, Lambdoidal crani... |
OMIM:101400 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
