Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Delayed skeletal maturation, F... |
OMIM:609628 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia |
OMIM:612561 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... |
ORPHA:2345 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Scoliosis, Neutro... |
OMIM:612562 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, D... |
ORPHA:811 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... |
ORPHA:93315 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Joint hypermob... |
OMIM:617052 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology |
ORPHA:2522 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia |
ORPHA:261250 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Delayed cranial suture closure, Congenital hypoplastic anemia, Short neck, Ret... |
OMIM:105650 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hem... |
ORPHA:251004 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:124 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... |
ORPHA:915 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Hereditary Renal Hypouricemia |
|
Back pain, Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
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 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein concentration, S... |
OMIM:612852 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Neuropathic arthropathy, Elevated circulating creatinine concentration, Scoliosis, Increased bloo... |
OMIM:223900 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... |
OMIM:150250 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... |
OMIM:130720 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... |
ORPHA:96169 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Scoliosis, Anemia, Increased blood urea nitrogen |
ORPHA:90321 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Elevated circulating C-reactive protein concentration, Elevated... |
ORPHA:49041 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... |
OMIM:610443 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... |
OMIM:213980 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... |
OMIM:268310 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc... |
ORPHA:90652 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck, Neutropenia |
OMIM:609053 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... |
OMIM:109400 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... |
ORPHA:160 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Flat acetabular roof |
OMIM:617159 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... |
OMIM:139210 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... |
ORPHA:373 |
Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation... |
ORPHA:508498 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Patellar aplasia, Hip dislocation, Hepatosplenomegaly, Anemia, Fused ... |
OMIM:274000 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dis... |
OMIM:194190 |
Aicardi Syndrome |
|
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis |
OMIM:304050 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Scoliosis |
ORPHA:50 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... |
OMIM:617137 |
Apert Syndrome |
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Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Robinow Syndrome |
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Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis |
ORPHA:97360 |
Chops Syndrome |
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Tracheomalacia, Splenomegaly, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... |
OMIM:157800 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Polysplenia |
OMIM:306955 |
Goodpasture Syndrome |
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Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Cleft v... |
ORPHA:83617 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... |
OMIM:613458 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... |
ORPHA:444077 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia 1 |
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Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |