| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Meta... |
ORPHA:750 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clinodactyly, Sco... |
OMIM:615923 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Limitation of joint mobility, Osteoarthritis, Abnormal joint morpho... |
ORPHA:93351 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ... |
OMIM:177170 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Increased arm span, Disproportionate tall stature, Arachnodactyly, Scoliosis |
OMIM:618793 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... |
OMIM:184255 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... |
OMIM:132400 |
| Alpha-2-Deficient Collagen Disease |
|
Disproportionate tall stature, Arachnodactyly |
OMIM:203760 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Shoulder dislocation, Disproportionate tall stature, Scoliosis, Tall st... |
ORPHA:2181 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... |
ORPHA:93360 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... |
OMIM:618392 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
| Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Polycyt... |
ORPHA:284227 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Thoracic kyphosis, Large hands, Arachnodactyly |
OMIM:300263 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of t... |
OMIM:184252 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Thoracic kyphosis, Disproportionate tall stature, Arachnodactyly |
ORPHA:2172 |
| Haim-Munk Syndrome |
|
Congenital palmoplantar hyperkeratosis, Arachnodactyly, Osteolytic defects of the phalanges of th... |
OMIM:245010 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Scoliosis, Bilateral sing... |
ORPHA:1548 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla... |
OMIM:616583 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
|
Disproportionate tall stature, Arachnodactyly, Joint contracture of the 5th finger |
OMIM:300799 |
| Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
| Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Atrophic s... |
OMIM:616471 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn... |
ORPHA:85198 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ... |
ORPHA:79106 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Tal... |
OMIM:601382 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Protruding ear, Cubitus valgus... |
OMIM:610313 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Anorexia, Functional... |
ORPHA:223 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, ... |
ORPHA:411634 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612924 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Split hand, Scoliosis, Tapered finger |
OMIM:220600 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612926 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolem... |
ORPHA:90041 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Coxa valga, Hyperlordosis, Advanced ossificatio... |
OMIM:618363 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... |
ORPHA:166024 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... |
OMIM:613845 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Renal insufficiency, Salt craving, Hype... |
ORPHA:95409 |
| Mass Syndrome |
|
Disproportionate tall stature, Arachnodactyly, Scoliosis |
OMIM:604308 |
| Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... |
ORPHA:2619 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology, Protrusio acet... |
ORPHA:99642 |
| Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Hemivertebrae, Hip dislocation, Flat acetabular roof, Elongated femoral... |
OMIM:619345 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology |
ORPHA:2290 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumbar scoliosis, Clinodactyly of ... |
OMIM:614851 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Tall stature, Kyphoscoliosis |
OMIM:236660 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfect... |
OMIM:259440 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolem... |
ORPHA:31824 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
| Sprengel Deformity |
|
Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Scoliosis, Spina bifida ... |
OMIM:184400 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Split foot, F... |
OMIM:183600 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... |
OMIM:610967 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... |
ORPHA:75840 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r... |
ORPHA:427 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... |
ORPHA:93346 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Clinodactyly of the 5th finger, Short distal phalanx of finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Polydipsia, Hypovolemia, Bicarbonaturia, Dehydration, Reduced bone mineral den... |
ORPHA:47159 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Limited elbow extension, Short metatarsa... |
OMIM:180870 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Talipes equinovarus, Upper limb amyotrophy |
OMIM:617087 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Rickets, Dehydration, Renal tubular dysfun... |
ORPHA:213 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
| Lamb-Shaffer Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Long fingers, Vertebral clefting, Optic atrophy, Scoli... |
OMIM:616803 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Platyspon... |
OMIM:265900 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Rhizomelia, Iliac crest serration, H... |
ORPHA:239 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arac... |
OMIM:600325 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Decreased fertility, Cryptorchidism, Hypovolemia, Osteoporosis,... |
ORPHA:168558 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Decreased fertility, Cryptorchidism, Hypovolemia, Osteoporosis,... |
ORPHA:289548 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen... |
OMIM:619721 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Bone-marrow foam cells, Hyper... |
ORPHA:275761 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Elbow ... |
ORPHA:96183 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Congenital generalized lipodystrophy, Genu valgum, Slender long bones with narrow dia... |
OMIM:608154 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diastrophic Dysplasia |
|
Joint dislocation, Proximal placement of thumb, Micromelia, Symphalangism affecting the phalanges... |
ORPHA:628 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulna... |
OMIM:121050 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera... |
ORPHA:166119 |
| Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Dehydration, Leukopenia,... |
ORPHA:99826 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Joint stiffness |
ORPHA:1144 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Obesity, Tapered finger |
OMIM:309585 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh... |
OMIM:607095 |
| Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... |
OMIM:615222 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing... |
OMIM:612350 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hyperlordosis, Hypoplasia of the odon... |
OMIM:184250 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multipl... |
OMIM:618393 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Increased vertebral height, Scoliosis, Camptodactyly, Camptodactyly of toe, Broad... |
OMIM:610474 |
| Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis |
OMIM:614416 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Ankle contracture, Spinal rigidity, Scoliosis... |
OMIM:620386 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Limita... |
ORPHA:1801 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Camptodac... |
OMIM:609128 |
| Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... |
OMIM:615155 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, S... |
ORPHA:64755 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Flexion ... |
ORPHA:263463 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
| Kuskokwim Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodies, Aplasi... |
ORPHA:1149 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Dehydration, Hyperammonemia, Cardi... |
ORPHA:79312 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Recurrent fractures, Hypercalcemia, Polyuria, Splenomegaly, Hyperc... |
OMIM:239200 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Joint stiffness, Abnormal form of the ... |
ORPHA:577 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
| 49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Generalized joint laxity, Finger c... |
ORPHA:99330 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr... |
OMIM:108145 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Anterior rib... |
OMIM:269250 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617404 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polydipsia, Mesoaxial hand polydactyly, Polyuria,... |
OMIM:615994 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphys... |
OMIM:108300 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brach... |
ORPHA:377 |
| Hypophosphatasia, Infantile |
|
Polyhydramnios, Bowing of the legs, Micromelia, Anorexia, Intracranial hemorrhage, Nephrocalcinos... |
OMIM:241500 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Dentinogenesis imperfecta |
ORPHA:71267 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndro... |
OMIM:219800 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosis, Aminoaci... |
ORPHA:18 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Disproportionate tall stature,... |
OMIM:609008 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Limitation of joint mobil... |
ORPHA:2994 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Polydipsia, Hypogona... |
ORPHA:35687 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hyperekplexia 4 |
|
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus,... |
OMIM:618011 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Overlapping toe, Broad hallux, Sandal gap, Small hand, Clinodactyly of the 5th finger, Slender fi... |
OMIM:617755 |
| Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,... |
OMIM:606054 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sh... |
OMIM:619638 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R... |
OMIM:614078 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Poems Syndrome |
|
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Edema, Pericardial effusion, Meta... |
ORPHA:2905 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia |
ORPHA:28 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp... |
ORPHA:178148 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Premature osteoa... |
OMIM:215150 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee fle... |
OMIM:615290 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Coxa valga, Wide anterior fon... |
ORPHA:163649 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... |
OMIM:301014 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Lipodystrophy, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Flexion contr... |
ORPHA:75496 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis |
ORPHA:33574 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f... |
ORPHA:1154 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Thoracic kyphosis |
OMIM:619092 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing im... |
ORPHA:101075 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility |
OMIM:619122 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... |
OMIM:618484 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation |
ORPHA:171719 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Joint hyperflexibility, Disproportionate tall stature, S... |
ORPHA:776 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Dehydration, Abnormal ovarian physiology, Hyponatremia, Hypogonadotropic hypo... |
ORPHA:90794 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Cryptorchidism, Dehydration, Dysphagia, Platyspondyly, Cone-shaped ep... |
OMIM:618958 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... |
ORPHA:64754 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology |
ORPHA:93283 |
| Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Short neck, Progressive intervertebral space narrowing, ... |
ORPHA:1716 |
| Frank-Ter Haar Syndrome |
|
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis,... |
ORPHA:137834 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Short neck, Tall stature |
ORPHA:1707 |
| Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia,... |
OMIM:300977 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
| Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joi... |
OMIM:252605 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Short... |
ORPHA:582 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... |
OMIM:619598 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Broad hallux, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, ... |
ORPHA:3433 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly |
OMIM:300577 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Analbuminemia |
|
Edema, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol co... |
OMIM:616000 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Neuromuscular dys... |
ORPHA:449285 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cry... |
OMIM:214150 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Hypovolemia, Dehydration... |
ORPHA:99885 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Talipes... |
OMIM:611890 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation |
OMIM:614100 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger |
OMIM:302000 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Craniosynostosis, Congestive heart failure, Splenomegaly, Neu... |
ORPHA:525731 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip dislocation, Patellar... |
ORPHA:1326 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of... |
ORPHA:2078 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Renal hypoplasia, Hepatosplenom... |
ORPHA:84081 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis... |
ORPHA:319675 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly |
OMIM:184840 |
| Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ... |
OMIM:271520 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
| Type 1 Diabetes Mellitus |
|
Polyuria |
OMIM:222100 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Broad hallux, Hypospadias, Cryptorchidism, Short toe, Short metat... |
ORPHA:439822 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... |
OMIM:173800 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Cachexia, Anorexi... |
ORPHA:3452 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Atrophic scars, D... |
ORPHA:300179 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... |
ORPHA:79159 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... |
OMIM:241200 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Clinodactyly of the 5th finger, Long fingers, Slender finger, Short hallux |
OMIM:620393 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Hemivertebrae, Scoliosis |
ORPHA:370079 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
| Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Joint stiffness, Adducted thumb, Uln... |
ORPHA:1147 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Limb joint contracture, A... |
ORPHA:505237 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract... |
ORPHA:2050 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Disproportionate tall stature, Abdominal obesity, Talipes equinovar... |
OMIM:301039 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... |
OMIM:610968 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Arachnodactyly, Scoliosis |
OMIM:301006 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosi... |
OMIM:602722 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Tall stature, Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Disprop... |
OMIM:236200 |
| Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... |
ORPHA:296 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox... |
OMIM:617425 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Flexion contr... |
OMIM:215100 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephropathy, Dehydration, Nephrocalcino... |
OMIM:208085 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Thoracic hemivertebrae,... |
ORPHA:1445 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor... |
OMIM:300602 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Stickler Syndrome, Type Ii |
|
Arthropathy, Long fingers, Arachnodactyly, Joint hypermobility |
OMIM:604841 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Dehydration, Hyper... |
OMIM:251000 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v... |
OMIM:619377 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Abnormality of the hum... |
ORPHA:2234 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Dehydration, Hyperammonemia, Cardiomyop... |
ORPHA:27 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... |
OMIM:241530 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Patellar aplasia, Hip dislocation, Disproportionate tall stature, Scoliosis |
ORPHA:2058 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Arachnodactyly, Scoliosis |
ORPHA:171844 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Arachnodactyly, Scoliosis, Toe clinodactyly |
OMIM:619910 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Sh... |
ORPHA:2617 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi... |
ORPHA:319195 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio... |
ORPHA:1323 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... |
ORPHA:340 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia, Joint hyperflexibility |
ORPHA:319199 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... |
OMIM:601678 |
| 16P13.11 Microduplication Syndrome |
|
Joint hyperflexibility, Hand polydactyly, Arachnodactyly, Craniosynostosis |
ORPHA:261243 |
| Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short met... |
ORPHA:93307 |
| Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Large for gestational age, Tapered finger, Large hands, Short 5th metacarpal |
OMIM:102150 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Tapered finger |
ORPHA:85274 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Talipe... |
ORPHA:562528 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... |
OMIM:212780 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Dehydration, Methylmalonic ... |
ORPHA:289504 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
| Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria, Failure to thrive, Dehydration |
OMIM:614265 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Anemia |
ORPHA:33355 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| 2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Joint hyperflexibility, Talipes equinovarus, Toe clinodacty... |
ORPHA:251019 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Disproportionate tall stature, Arachnodactyly |
OMIM:616166 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
| Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Arachnodactyly, Sandal gap, Flexion contracture, Hip dysplasia, Talipes equinovarus, Scoliosis, C... |
OMIM:617146 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodi... |
OMIM:102500 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Dehydration, Abnormal tubulointerst... |
ORPHA:411629 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Hyperammonemia, Hypertension,... |
ORPHA:134 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis, Leukocytosis, O... |
ORPHA:188 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H... |
OMIM:203400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly |
ORPHA:2180 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Clinodactyly, Posteriorly rotated ears, 2-3 toe syndactyly, Low-set ears |
OMIM:619311 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypertension, Polyuria |
OMIM:613677 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Proximal placement of thumb, Short neck, Platyspondyly, Ab... |
ORPHA:93267 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Horizontal ribs, Cryptorchidism, Methylmalonic aciduri... |
OMIM:614857 |
| Chronic Hiccup |
|
Abnormal eating behavior, Dehydration, Weight loss |
ORPHA:396 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Knee... |
OMIM:609220 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
| Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Talipes equinovar... |
OMIM:617662 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm |
ORPHA:3238 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Slender finger, Short neck |
OMIM:613192 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnormality of t... |
ORPHA:1005 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenomegaly, Red urin... |
OMIM:618892 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Metatarsus adductus, S... |
ORPHA:436003 |
| Shox-Related Short Stature |
|
Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lowe... |
ORPHA:314795 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered f... |
ORPHA:2215 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Neutropenia, De... |
ORPHA:1667 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Cervical kyphosis... |
OMIM:255800 |
| Hellp Syndrome |
|
Back pain, Hemolytic anemia, Pulmonary edema, Decreased mean corpuscular hemoglobin concentration... |
ORPHA:244242 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
| Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contract... |
OMIM:277720 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Arachnodactyly, Short neck, Kyphosis, Wide anterior fontanel, Congenital contrac... |
OMIM:248700 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Short neck, Kyphosis, Arthr... |
ORPHA:61 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:125800 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, S... |
ORPHA:2115 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:304800 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Broad ... |
ORPHA:56304 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
| Ck Syndrome |
|
Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Slender build, Joint hypermobility |
ORPHA:251383 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Partial duplicati... |
OMIM:618348 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Scoliosis |
OMIM:604919 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Arachnodactyly, Subarachnoid hemorrhage, Hypovol... |
ORPHA:91387 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Arachnodactyly, Scoliosis |
OMIM:617600 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Short neck, Elbow flexion contracture, Small hand, Knee flexion ... |
ORPHA:371364 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, Platyspondyl... |
ORPHA:166272 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubulointerstitial nep... |
ORPHA:358 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Abnormal bone o... |
ORPHA:93315 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Wrist s... |
OMIM:166300 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:85317 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Thin ribs, Thin metatarsal cort... |
ORPHA:2463 |
| Parana Hard Skin Syndrome |
|
Tapered finger, Restricted chest movement |
ORPHA:2812 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulating renin lev... |
ORPHA:556030 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal widening, Limitat... |
OMIM:224400 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Hypertension, Hypokalemia, Enuresis, Increased circul... |
OMIM:612780 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Clinodactyly, Hearing impairment |
ORPHA:500166 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... |
ORPHA:199343 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Arachnodactyly, Atrophic scars, Bilateral talipes equinovarus, Talipes equinovar... |
OMIM:615539 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Congestive heart failu... |
OMIM:212140 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyperflexi... |
ORPHA:250984 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of... |
ORPHA:1486 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Keloids, Brachydactyly |
ORPHA:3085 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Dehydration, Increased c... |
OMIM:610600 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Macrotia, Optic atrophy |
OMIM:300928 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis |
ORPHA:1545 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Ankle clonus, Short foot, Scoliosis |
OMIM:617435 |
| Mosaic Trisomy 1 |
|
Omphalocele, Long toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Camptodactyly of finge... |
ORPHA:1692 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporos... |
ORPHA:2583 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
| Keipert Syndrome |
|
Broad hallux, Sensorineural hearing impairment, Broad distal phalanx of finger, Camptodactyly, Lo... |
OMIM:301026 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hypotension, Failure to thrive |
OMIM:264350 |
| Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn... |
ORPHA:536467 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| 3Q27.3 Microdeletion Syndrome |
|
Disproportionate tall stature, Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
| Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Large for gestational... |
OMIM:239850 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Omphalocele, Osteopenia, Abnormal hand morphology, Sclerotic cranial sutures, Osteol... |
ORPHA:371428 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis |
OMIM:255200 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Decreased palmar creases, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, U... |
OMIM:615834 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Deh... |
ORPHA:94093 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Shoulder dislocation, Arachnodactyl... |
ORPHA:536532 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Decreased palmar creases, Kyphosis, Narrow palm, Congenital contracture, Joint c... |
ORPHA:352490 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhyd... |
OMIM:602522 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater sciatic notch... |
OMIM:602271 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Joint hyperflexibility |
OMIM:614898 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Scapular muscle atrop... |
OMIM:181405 |
| 3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Six lumbar vertebrae, Tapered finger |
ORPHA:65286 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Marinesco-Sjogren Syndrome |
|
Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scoliosis, Cubitus... |
OMIM:248800 |
| Familial Cold Urticaria |
|
Arthritis, Polydipsia, Dehydration |
ORPHA:47045 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Triangular shaped distal ph... |
OMIM:271665 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert... |
ORPHA:66637 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Joint hypermobility, Scoliosis |
OMIM:619013 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Kyphosis |
OMIM:618138 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly |
ORPHA:2824 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Narrow palm, Short... |
OMIM:615547 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture |
OMIM:618237 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... |
ORPHA:99886 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Coffin-Siris Syndrome 5 |
|
Sandal gap, Arachnodactyly, Short distal phalanx of finger |
OMIM:616938 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ... |
OMIM:616507 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Attention deficit hyperactivity disorder, Hypotension, Postural hypotension with compens... |
ORPHA:369873 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxial foot... |
OMIM:243910 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... |
OMIM:615583 |
| Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Craniosynostosis, Abnormal form of the vertebral bodies, Scoliosis, ... |
ORPHA:2645 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Bowing of the long bones, Increased bone mineral density, Ab... |
ORPHA:1798 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Kyphosis,... |
ORPHA:3219 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Infertility, Hypotension, Osteoporosis of vertebrae, D... |
ORPHA:95619 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Short neck, Long fingers, Increased nuchal translucency, Disproportionat... |
OMIM:615668 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behav... |
ORPHA:534 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Adducted thumb, Flared metaphysis, H... |
OMIM:610758 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... |
OMIM:242900 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... |
OMIM:600920 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrh... |
ORPHA:99147 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw |
OMIM:604563 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the ve... |
OMIM:166600 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Short ne... |
OMIM:613776 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single tr... |
ORPHA:3191 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... |
OMIM:235400 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... |
ORPHA:485 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased female libido, Normochromic anemia, Hyposthenuri... |
ORPHA:95513 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Arachnodactyly, Metatarsus adductus, Wide anterior fontanel, Metaphyseal widenin... |
OMIM:182212 |
| Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Camptodactyly |
OMIM:614846 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Edema, Anorexia, Leukocytosis, Dilated cardiomyopathy, Dehydration, We... |
ORPHA:20 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Mi... |
ORPHA:319213 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Broa... |
OMIM:300280 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618147 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility,... |
ORPHA:3101 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Short neck, Multiple prenatal fractures, Beaded ribs, Flexion contrac... |
OMIM:616897 |
| Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Edema, Elevated circulating C-reactive protein concentrat... |
ORPHA:90051 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... |
ORPHA:1225 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Dehydration, Hyperammonemia, M... |
OMIM:251110 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Ovoid vertebral bodies, Anterior... |
OMIM:260400 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... |
OMIM:600081 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... |
ORPHA:251274 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... |
OMIM:251100 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Enlarg... |
OMIM:264700 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... |
OMIM:231070 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdo... |
OMIM:616294 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Vertebral segmentation defect, Hemivertebrae |
OMIM:617661 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Premature ovarian insuffi... |
ORPHA:85138 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... |
ORPHA:423 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hern... |
ORPHA:3218 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Down-sloping shoulders, Kyphoscoliosis, Short neck, Deviation of the 5th t... |
ORPHA:391408 |
| Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th ... |
OMIM:169400 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Osteomyelitis, Renal insufficiency, Elevated circulating creatine kinase conc... |
ORPHA:36234 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Narrow palm, Slender toe... |
ORPHA:193 |
| Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platyspondyly, Hyp... |
OMIM:300863 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... |
ORPHA:2522 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Hearing impairment, Brachydactyly |
OMIM:610023 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Hypoplasia of the odontoid process, Pla... |
OMIM:264180 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... |
ORPHA:3337 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... |
OMIM:215045 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Arachnodactyly, Broad hallux, Flexion contracture, Hip dislocation, Hype... |
ORPHA:481152 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly |
OMIM:617352 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Non-Distal Duplication 13Q |
|
Postaxial hand polydactyly, Arachnodactyly, Hernia |
ORPHA:1702 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel... |
OMIM:130070 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Joint stiffness, Cardio... |
ORPHA:3463 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Nonimmune ... |
OMIM:166210 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Premature ovarian in... |
ORPHA:199299 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Clinodactyly, Macrotia, Scoliosis |
OMIM:300934 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Myogl... |
ORPHA:713 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... |
OMIM:151210 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Joint laxity, Arachnodactyly, Generalized joint laxity, Scoliosis, Palmoplanta... |
OMIM:130080 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short humerus, Telangiectasia of the... |
ORPHA:75508 |
| Chromosome 3Q29 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Long fingers, Tapered finger |
OMIM:609425 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand... |
ORPHA:958 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Shortened Q... |
ORPHA:143 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, A... |
OMIM:557000 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Single transverse palmar crease, Scoliosis |
OMIM:300861 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Decr... |
ORPHA:231580 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
| Hurler-Scheie Syndrome |
|
Limitation of joint mobility, Abnormal vertebral morphology, Spinal canal stenosis, Hernia |
ORPHA:93476 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Limb joint contracture, Kyphosc... |
OMIM:612079 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,... |
OMIM:618853 |
| Sialidosis Type 2 |
|
Inguinal hernia, Kyphosis, Flexion contracture, Osteoporosis, Umbilical hernia |
ORPHA:87876 |
| Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... |
OMIM:617926 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
| Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morphology, Abnormal ve... |
ORPHA:90653 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Limit... |
ORPHA:319171 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... |
ORPHA:2496 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal join... |
ORPHA:3130 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556037 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Anorexia, Hemolytic-uremic syndrome, Myocard... |
ORPHA:810 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Cryptorchidism, H... |
ORPHA:361 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Muenke Syndrome |
|
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Cone-... |
OMIM:602849 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Pleural ... |
ORPHA:542323 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Abnormal vertebral morphology, Elb... |
ORPHA:95699 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukope... |
ORPHA:36238 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Hemivertebrae, Scoliosis, Short neck |
ORPHA:52047 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
| Bainbridge-Ropers Syndrome |
|
Disproportionate tall stature, Arachnodactyly, Scoliosis |
ORPHA:352577 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... |
OMIM:606612 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... |
ORPHA:69076 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, ... |
OMIM:617602 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morpho... |
ORPHA:94065 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Arachnodactyly, Delayed skeletal maturation, Reduced bone mineral density, Osteoporos... |
ORPHA:243 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly... |
ORPHA:549 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosis, Birth length greater than ... |
ORPHA:314588 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Obesity, Genu valgum, Short foot, S... |
OMIM:618443 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Absent thumb |
OMIM:276950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Scoliosis, Prominent fingertip pads |
OMIM:300986 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... |
ORPHA:1830 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Wrist swelling, Limitation of joint mobility, Osteolysis, Slender long b... |
ORPHA:2774 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystine... |
OMIM:251120 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Kyphosis, Wide anterior fontanel, Umbilical hernia |
OMIM:618272 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Cubitus valgus, Truncal obesity, Bilateral single transverse palmar creases, Tapered finger |
ORPHA:85280 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:99014 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Scoliosis, Joint stiffness |
ORPHA:816 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly |
ORPHA:93946 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... |
ORPHA:3429 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Ascites, Hy... |
ORPHA:99828 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Overfolded helix, Low-set ears, Clinodactyly, Hearing impairment |
ORPHA:251046 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... |
OMIM:620099 |
| Achard Syndrome |
|
Joint laxity, Arachnodactyly |
OMIM:100700 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Corneal scarring, Hip dysplasia, Abnormal epiphysis morphology, He... |
ORPHA:90354 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Leukopeni... |
OMIM:616271 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Platyspondyly, M... |
OMIM:614524 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Edema, Leukocytosis, Bradycardia, Hypotension, Ne... |
ORPHA:391673 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, V... |
ORPHA:96169 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocation, Genu ... |
ORPHA:171436 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion c... |
ORPHA:220393 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Shortened Q... |
ORPHA:99880 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Joint hyperflexibility, Talipes equinovarus, S... |
OMIM:614816 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, Congenital foo... |
OMIM:314580 |
| Myopathy, Centronuclear, X-Linked |
|
Birth length greater than 97th percentile, Flexion contracture, Arachnodactyly, Slender toe |
OMIM:310400 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Single transverse palmar crease, Sho... |
ORPHA:915 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Elbow dislocation, Radial head subluxation,... |
OMIM:620083 |
| Livedoid Vasculopathy |
|
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Pedal edema, Hyperhomocystinemia, Hyperte... |
ORPHA:542643 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle bone morphology, Arthro... |
OMIM:157900 |
| Shprintzen-Goldberg Syndrome |
|
Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Missing ribs,... |
ORPHA:2462 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Hyperlordosi... |
ORPHA:98855 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, P... |
ORPHA:2872 |
| Cog7-Cdg |
|
Long fingers, Abnormal finger morphology, Short neck, Adducted thumb |
ORPHA:79333 |
| Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joi... |
OMIM:612513 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Single transverse palmar crease, Slender finger, Scoliosis, Clinodactyly of the ... |
ORPHA:329224 |
| Vissers-Bodmer Syndrome |
|
Tall stature, Tapered finger |
OMIM:619033 |
| Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... |
ORPHA:236 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Scapular winging, Arachnodactyly, Kyphoscol... |
OMIM:615582 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop... |
ORPHA:2746 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit... |
OMIM:620232 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Edinburgh Malformation Syndrome |
|
Joint stiffness, Accelerated skeletal maturation, Long fingers, Ulnar deviation of finger, Slende... |
ORPHA:1895 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
| Harlequin Ichthyosis |
|
Sudden cardiac death, Limitation of joint mobility, Dehydration, Self-injurious behavior, Hand po... |
ORPHA:457 |
| Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Elbow... |
OMIM:615656 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Kyphoscoliosis, Sho... |
OMIM:193700 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
| Meningococcal Meningitis |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, An... |
ORPHA:33475 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Increased intervert... |
OMIM:224300 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Dehydration, Renal cyst, Aplasia/Hyp... |
ORPHA:79404 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia |
ORPHA:403 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Pulmon... |
ORPHA:79282 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... |
ORPHA:35858 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long palm, Scoliosis |
OMIM:300676 |
| Fumarase Deficiency |
|
Failure to thrive, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydramnios, ... |
OMIM:606812 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Dehydration, Weight loss... |
ORPHA:171876 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
| Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts, Polycythemia |
OMIM:193300 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior... |
ORPHA:2021 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Joint hyperm... |
ORPHA:314585 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... |
OMIM:301041 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio... |
OMIM:619180 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses, Platys... |
OMIM:612813 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Cryptorchidism, Hyperkalemia, Dehydration, Azoospe... |
ORPHA:90791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of ... |
ORPHA:289157 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Small thenar eminence, Abnormality of the vertebral column, Short 5th finger,... |
OMIM:239800 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Polyhydramnios, Renal salt wasting, Increased urinary po... |
ORPHA:89938 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... |
OMIM:610442 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Sho... |
ORPHA:85293 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Prieto Syndrome |
|
Coxa valga, Talipes equinovarus, Low-set ears, Radial deviation of finger, Clinodactyly |
OMIM:309610 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... |
ORPHA:2438 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ep... |
ORPHA:1824 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness |
ORPHA:1345 |
| Trigonocephaly 1 |
|
Metopic synostosis, Lumbar hemivertebrae, Craniosynostosis |
OMIM:190440 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Clinodactyly, Short palm |
ORPHA:73273 |
| Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Talipes equinovarus, Rad... |
OMIM:608545 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Short neck, ... |
ORPHA:98863 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Basan Syndrome |
|
Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of toes, Palmoplantar kerat... |
OMIM:129200 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ... |
OMIM:177735 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger |
OMIM:300706 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Fem... |
ORPHA:198 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... |
ORPHA:2347 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Punctate vertebral calcifications,... |
OMIM:302960 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Congenita... |
ORPHA:280 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... |
OMIM:607155 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Osteoporosis, Scoliosis, J... |
OMIM:615381 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventri... |
OMIM:212138 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality... |
ORPHA:56305 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide distal femoral met... |
OMIM:613320 |
| Ogden Syndrome |
|
Congenital hip dislocation, Lymphedema, Short neck, Ventricular tachycardia, Iron deficiency anem... |
OMIM:300855 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la... |
ORPHA:763 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th... |
OMIM:253220 |
| Congenital Myopathy 12 |
|
Arachnodactyly, Jaw contracture, Camptodactyly, Overlapping fingers, Joint contracture of the hand |
OMIM:612540 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Tibial bowing, Knee flexion contrac... |
OMIM:601559 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Large hands, Di... |
OMIM:617011 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Autosomal Agammaglobulinemia |
|
Osteomyelitis, Dehydration, Arthritis, Neutropenia, Failure to thrive |
ORPHA:33110 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Short neck, Tapered finger, ... |
DECIPHER:81 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ... |
OMIM:619951 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Kyphosis, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph... |
ORPHA:289176 |
| Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... |
ORPHA:173 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scolios... |
OMIM:619269 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Anor... |
ORPHA:330015 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Hemivertebrae |
OMIM:619318 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Short neck, Tapered finger, Overweight, Small hand, Short clavicles |
ORPHA:401923 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, Contracture of ... |
OMIM:607015 |
| Nephrotic Syndrome, Type 11 |
|
Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly |
OMIM:616730 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... |
OMIM:618183 |
| Martsolf Syndrome 1 |
|
Joint laxity, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Inguinal hernia, Metata... |
OMIM:212720 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... |
OMIM:206920 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, Short phalanx of fin... |
ORPHA:221008 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:2471 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated creatine kinase after exercise, Dicarboxylic aciduria, Elevated circulating acylcarnitin... |
ORPHA:159 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
| Bresek Syndrome |
|
Postaxial hand polydactyly, Hemivertebrae, Scoliosis |
ORPHA:85284 |
| Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Cardiomyopa... |
ORPHA:699 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph... |
OMIM:605282 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Bowing of the long bone... |
ORPHA:261330 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Hyperlordosi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Hyperlordosi... |
ORPHA:98853 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Inguinal hernia, Arachnodactyly, Pr... |
ORPHA:284984 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Long fingers, Tapered finger |
OMIM:618292 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs |
ORPHA:77300 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Abnormal vertebr... |
ORPHA:3224 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Sensorineural hearing impairment, Thoracic kyphosis, Short ... |
ORPHA:557003 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Hyperna... |
ORPHA:35710 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... |
OMIM:276820 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb... |
ORPHA:848 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Joint laxity, Tapered finger, Long fingers, Talipes equinovarus, Scoliosis, Prominent fingertip pads |
OMIM:617773 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Hypogonadotropic hypogonadism, Renal salt wasting, Cryptorchidism, Dehydration, Oli... |
OMIM:300200 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... |
OMIM:609945 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Flexion contracture, Dispr... |
OMIM:309520 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cleft vertebrae, Pla... |
OMIM:620076 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Joint hypermobility, Kyphoscoliosis |
OMIM:616470 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Arachnodactyly, Osteopathia striata, Spina bifida occulta, Fibular hypoplasia, Clino... |
OMIM:300373 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cone-sh... |
OMIM:618659 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
| Prolactinoma |
|
Osteopenia, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonad... |
ORPHA:2965 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... |
OMIM:194380 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Wilson-Turner Syndrome |
|
Short foot, Truncal obesity, Small hand, Tapered finger |
ORPHA:3459 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... |
OMIM:252500 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Short foot, Clinodactyly, Small hand, Scoliosis |
ORPHA:254531 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl... |
OMIM:614701 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Abnormal pinna morphology, Small hand, Overfolded helix, Broad finger, Clinodactyly, Short phalan... |
OMIM:614684 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Hearing impairment, Sensorineural hearing impairment, Talipes equinovarus, Scolio... |
OMIM:616354 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast... |
OMIM:119600 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Thoracic scoliosis, Inguinal her... |
OMIM:613848 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Angioedema, Hypotension, Peau d'orange, Telangiectasia macularis erup... |
ORPHA:79455 |
| Hurler Syndrome |
|
Inguinal hernia, Hypoplasia of the femoral head, C1-C2 subluxation, Coxa valga, Short neck, Metap... |
OMIM:607014 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Delayed cranial suture closure, Ante... |
OMIM:249420 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Wide anterior fontane... |
OMIM:201170 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... |
OMIM:259770 |
| Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Craniosynostosis, Unilateral renal agenesis, Kyphosis, Flexion co... |
OMIM:617140 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Short neck, Small hand, 2-3 toe syndactyly, Scol... |
ORPHA:284180 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short greater sciatic notc... |
OMIM:187601 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short h... |
ORPHA:90652 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... |
OMIM:232800 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
| Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph... |
ORPHA:428 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
EEG with burst suppression, Clinodactyly, Scoliosis, Hypsarrhythmia |
OMIM:620316 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Arachnodactyly, Long palm, Hiatus hernia, Rocker bottom foot, Co... |
ORPHA:3342 |
| Galloway-Mowat Syndrome 10 |
|
Arachnodactyly |
OMIM:619609 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Split hand, Hemiver... |
OMIM:200980 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Arachnodactyly |
OMIM:612242 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Short neck, Small hand, Short foot, Clinodac... |
OMIM:300590 |
| Gand Syndrome |
|
Long toe, Long fingers |
OMIM:615074 |
| Al Kaissi Syndrome |
|
Sacral dimple, Hemivertebrae, Small hand, Deep palmar crease, Clinodactyly |
OMIM:617694 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Distal Duplication 17Q |
|
Joint laxity, Hallux valgus, Rhizomelia, Arachnodactyly, Overlapping toe, Genu valgum, Hand polyd... |
ORPHA:3379 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck, Tapered finger, Elbow flexion contracture, Talipes equinovarus, Radia... |
OMIM:272430 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Acromicria, Small hand, Short foot, Clinodactyly |
ORPHA:254525 |
| Lymphedema, Primary, With Myelodysplasia |
|
Long fingers, Tapered finger, Cellulitis |
OMIM:614038 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Wide anterior fontanel, E... |
ORPHA:313781 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Impotence, Oligomenorrhea, Hypotension |
ORPHA:91354 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Calcinosis, Telangiectas... |
ORPHA:2909 |
| Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Hypotension, Scoliosis, Clinod... |
ORPHA:2135 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:2075 |
| Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Tapered finger |
OMIM:619000 |
| Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Dispro... |
ORPHA:394 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Hall-Riggs Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Platyspondyly, Abnormal epiphysis morphology,... |
ORPHA:2107 |
| Flynn-Aird Syndrome |
|
Kyphosis, Bone cyst, Scoliosis, Joint stiffness |
ORPHA:2047 |
| Monosomy 18Q |
|
Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Delayed skeletal... |
ORPHA:1600 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Osteoporosis,... |
ORPHA:91347 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure |
ORPHA:1129 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... |
OMIM:619260 |
| Mehmo Syndrome |
|
Talipes equinovarus, Obesity, Tapered finger |
ORPHA:85282 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Hypotension, Myeloprolifer... |
ORPHA:79456 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep palmar cr... |
ORPHA:254346 |
| Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumba... |
OMIM:230600 |
| Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Preaxial hand polydactyl... |
ORPHA:261318 |
| Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Hypoplasia of penis, Polydipsia, Obesity |
ORPHA:3157 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Protruding ear, Talipes equinovarus, Short palm, Clinoda... |
ORPHA:85279 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Craniosynostosis, Decreased palma... |
ORPHA:2953 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
| 3C Syndrome |
|
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Abnormal hip... |
ORPHA:7 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... |
ORPHA:85194 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly |
OMIM:616420 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... |
OMIM:605822 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... |
OMIM:109120 |
| Alexander Disease |
|
Osteopenia, Sudden cardiac death, Short neck, Hyperlordosis, Kyphosis, Dysphagia, Hypertension, S... |
ORPHA:58 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Slender fing... |
ORPHA:251028 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature |
ORPHA:85325 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contract... |
OMIM:208050 |
| Atelosteogenesis Type I |
|
Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog... |
ORPHA:1190 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow greater sciatic notch, Sho... |
OMIM:312870 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
| Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, 2-3 toe syndactyly, Ver... |
OMIM:617866 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bod... |
OMIM:230500 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Ky... |
ORPHA:457359 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Hyperlordosis, Short neck, K... |
ORPHA:2789 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephroblastoma, Polyhydramnios, Large for gestational age, Elevated circula... |
ORPHA:116 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Abnormal form of the vertebral bodies, Genu valgum,... |
ORPHA:949 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, Scoliosis |
OMIM:218000 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Anorexia, Lacti... |
ORPHA:3008 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Scrub Typhus |
|
Splenomegaly, Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis... |
ORPHA:536545 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Hammertoe, Camptodactyly, Clinodactyly, ... |
OMIM:275900 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, S... |
OMIM:170390 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... |
ORPHA:85408 |
| Rabson-Mendenhall Syndrome |
|
Long penis, Nephrocalcinosis, Cardiomyopathy, Hypokalemia, Polydactyly, Polydipsia, Increased C-p... |
ORPHA:769 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Iron defic... |
ORPHA:100078 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni... |
ORPHA:447 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... |
ORPHA:589905 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Polyhydramnios, Short neck, Micromelia, Coxa ... |
ORPHA:800 |
| Chung-Jansen Syndrome |
|
Tapered finger, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hypermobility |
OMIM:617991 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Tapered finger |
OMIM:181180 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Ankle clonus, Arachnodactyly, Adducted thumb |
ORPHA:412057 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, Short phalanx of fin... |
ORPHA:221016 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ... |
ORPHA:2479 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:617190 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Sensorineural hearing impairmen... |
OMIM:148820 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, I... |
ORPHA:100075 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... |
OMIM:607944 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
| Wiedemann-Steiner Syndrome |
|
Joint laxity, Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of t... |
OMIM:605130 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous finger syndact... |
OMIM:224690 |
| Sialidosis Type 1 |
|
Kyphosis, Hernia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Arachnodactyly, Contracture of the proximal interphalangeal joint of... |
OMIM:615485 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Short neck, Cryptorchidism, Short toe, Flexion contracture, Talip... |
ORPHA:98791 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... |
OMIM:610682 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Hemivertebrae, Irregular o... |
OMIM:109400 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sacral dimple, Sandal gap, Long fingers, Patellar hypoplasia, Congenital contracture, A... |
ORPHA:261279 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Kyphoscoliosis, Low-set ears, Conductive hearing impairment, Clinodacty... |
OMIM:617808 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hemivertebrae |
OMIM:220210 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ... |
OMIM:618150 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Hallux valgus, Genu recurvatum, Thoracolumbar scoliosis, Kyphoscoliosis, Recur... |
ORPHA:230851 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Scoli... |
OMIM:619648 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal dental enamel morphology, Down-sloping shoulders, Tapered finger, ... |
ORPHA:1452 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt... |
OMIM:136760 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| 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 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Lumbar hyperlordosis, Limited hip extension, Bowing of... |
OMIM:100800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia, Failure to thrive, Ketonuria, Dehydration |
OMIM:615453 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... |
OMIM:608612 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly, Tall stature |
OMIM:618089 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Bowing of the legs... |
ORPHA:1855 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hypotrophy of the small hand ... |
OMIM:610443 |
| Gm1 Gangliosidosis |
|
Hydrops fetalis, Abnormal form of the vertebral bodies, Hyperlordosis, Hepatosplenomegaly, Cardio... |
ORPHA:354 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Multiple joint contractures, Single transverse palmar crease, Meta... |
ORPHA:536471 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Kyphosis, Polydactyly... |
ORPHA:464306 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Severe generalized osteoporosis,... |
OMIM:210730 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin... |
OMIM:608149 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Flexion contracture, Bone cy... |
ORPHA:3042 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... |
OMIM:304150 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Beaking of vertebral bodies, Spatulate ribs, Hyperlordosis, Nephrolithiasis... |
OMIM:619698 |
| Aase-Smith Syndrome I |
|
Slender finger, Flexion contracture, Talipes equinovarus |
OMIM:147800 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Overlapping toe, Down-sloping shoulders, Tapered finger, Short neck, Flexion contr... |
OMIM:617452 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Hip dysplasia, Talipes equinovarus, Tapered finger |
OMIM:617219 |
| Stickler Syndrome |
|
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spin... |
ORPHA:828 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon... |
OMIM:620351 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios... |
OMIM:301040 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Clinodactyly, Ulnar deviation of the wrist, Scoliosis |
OMIM:618577 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,... |
OMIM:305400 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger |
OMIM:617523 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Inguinal hernia, Radial deviation of finger |
OMIM:609944 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... |
OMIM:618000 |
| Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hemivertebrae, Scoliosis, Cubitus valgus |
OMIM:104350 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Obesity, Tapered finger |
ORPHA:352530 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
| Peho-Like Syndrome |
|
Tapered finger |
OMIM:617507 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased m... |
ORPHA:231226 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly |
OMIM:269920 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Failure to thr... |
ORPHA:95427 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
| Recon Progeroid Syndrome |
|
Joint laxity, Long thumb, Arachnodactyly, Proximal placement of thumb |
OMIM:620370 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Abnormal form of the vert... |
ORPHA:2461 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis, Finger joint hyperm... |
OMIM:618493 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia, Increased susceptibility to fractures |
OMIM:304700 |
| Prolidase Deficiency |
|
Arachnodactyly, Genu valgum, Palmoplantar keratoderma, Abnormal hip bone morphology, Bilateral si... |
ORPHA:742 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Inguinal hernia, Tapered finger, Flexion contracture, Hip dysplasia, Finger joint hypermobility, ... |
ORPHA:544503 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Talipes equinovarus |
ORPHA:169186 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Acute kidney injury |
ORPHA:43116 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Long fingers, Macrotia, Optic atrophy, Hypsarrhythmia, Talipes equinovarus, Clinodactyly, Joint c... |
OMIM:601110 |
| Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hyperammonemia,... |
OMIM:618641 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Protruding ear, Slender long b... |
OMIM:612921 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, Decreased circu... |
ORPHA:309854 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Scoliosis, Overlappin... |
OMIM:618316 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibial bowing, Femoral bowing... |
OMIM:616482 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Kyphosis, 2-3 toe ... |
OMIM:617061 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Long hallux, Tapered finger |
OMIM:619854 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... |
OMIM:151050 |
| Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Restlessness, Abnormal posturing, Weight loss |
ORPHA:157941 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Accelerated skeletal maturation, Obesity, Scoliosis, Clinodactyly of ... |
OMIM:618430 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Single transverse palmar crease, Tape... |
OMIM:216550 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... |
ORPHA:3063 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me... |
ORPHA:163966 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept... |
OMIM:166200 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... |
OMIM:213980 |
| Dend Syndrome |
|
Clinodactyly of the 4th finger, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Overgrowth, Arachnodactyly |
OMIM:219100 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... |
ORPHA:100080 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... |
ORPHA:404440 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Hypoplastic ve... |
ORPHA:3027 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Short ribs, Co... |
OMIM:603116 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Hematemesis, Shortened QT interval, Osteolysis, Dehydration, Increased s... |
ORPHA:652 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Self-injuriou... |
ORPHA:293987 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased m... |
ORPHA:231214 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Braddock-Carey Syndrome 1 |
|
Posteriorly rotated ears, Hyperlordosis, Small hand, Talipes equinovarus, Camptodactyly, Clinodac... |
OMIM:619980 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Brachydactyly, Congenital hip dislocation, Hyperlordosis, Tapered finger, Hypoplasia ... |
OMIM:616007 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100082 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
ORPHA:261190 |
| Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Low-set ears, Tapered finger |
OMIM:617931 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
| Malan Syndrome |
|
Long fingers, Overgrowth, Scoliosis, Coxa valga |
OMIM:614753 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Neuhauser Syndrome |
|
Osteopenia, Arachnodactyly, Genu recurvatum, Genu valgum |
OMIM:249310 |
| Enteric Anendocrinosis |
|
Portal hypertension, Dehydration |
ORPHA:83620 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Fucosidosis |
|
Kyphosis, Lipoatrophy, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Lumbar hemivertebrae, Talipes equinovarus, Short neck |
OMIM:619859 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Low-set ... |
OMIM:258860 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micromelia, Short neck, Elbow dislocation, Rocker bottom foot, Limitatio... |
ORPHA:99776 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypertension, Normochromic anemia, Impotence, Oligo... |
ORPHA:95613 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney |
ORPHA:634 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Marfan Syndrome |
|
Tall stature, Genu recurvatum, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Arachnodac... |
OMIM:154700 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilateral single trans... |
ORPHA:1507 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscolios... |
OMIM:253200 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Rocker bottom foot, Limitati... |
ORPHA:79474 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Hypokalemia, Abdominal obesity, Biconcave vertebral bodies, Vert... |
OMIM:219090 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Imagawa-Matsumoto Syndrome |
|
Clinodactyly, Large hands, Camptodactyly |
OMIM:618786 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, Increased mean... |
OMIM:612561 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:309350 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Mixed hearing impairment, Kyphoscoliosis, Hearing impairment, Parti... |
OMIM:616331 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Facial t... |
ORPHA:97287 |
| Distal Deletion 19P |
|
Long toe, Vaginal hernia, Arachnodactyly, Umbilical hernia, Keloids |
ORPHA:96129 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... |
OMIM:304120 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Sandal gap, Hemivertebrae, Short foot, Hip dysplasia, Short middle phalanx of finger, Scoliosis, ... |
OMIM:156200 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration |
ORPHA:313 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Micromelia, Postaxial hand polydactyl... |
OMIM:211750 |
| Rett Syndrome |
|
Short foot, Kyphosis, Scoliosis |
OMIM:312750 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger |
OMIM:188025 |
| Glass Syndrome |
|
Inguinal hernia, Arachnodactyly, Anterior tibial bowing, Talipes equinovarus, Camptodactyly |
OMIM:612313 |
| Meester-Loeys Syndrome |
|
Arachnodactyly, Cervical spine instability, Broad distal phalanx of finger, Camptodactyly, Umbili... |
OMIM:300989 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Recurrent fractures, Kyphoscoliosis, Short ne... |
OMIM:309583 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Underdeveloped tragus, EEG abnormality, Low-set ears, Camptodacty... |
OMIM:618804 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Tapered finger, Scoliosis, Short neck |
OMIM:616801 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Abnormal rib ... |
ORPHA:93317 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyp... |
ORPHA:476126 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Clinodactyly of the 5th finger, Clinodactyly, Low-set ears |
OMIM:300997 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion con... |
ORPHA:666 |
| Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo... |
OMIM:235200 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Brachydactyly, Overlapping toe, Single tran... |
ORPHA:221120 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... |
ORPHA:101085 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Keloids, Sclerosis of skull base, Scolio... |
OMIM:130720 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Clinodactyly of the 5th finger, Long fingers, Joint contracture of the 5th finger, Tapered finger |
OMIM:614407 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hydrops fetalis, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy... |
ORPHA:79255 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Hernia, Decreased skull ossification, Partial absence of toe, Short toe, ... |
ORPHA:955 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension, Pulmonary edema |
ORPHA:70578 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation |
ORPHA:447980 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Diamond-Blackfan Anemia 1 |
|
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia,... |
OMIM:105650 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Swan neck-like deformities of the fingers, Low-set ears, Ulnar deviated club hands... |
OMIM:619880 |
| Microsporidiosis |
|
Brain abscess, Osteomyelitis, Cachexia, Anorexia, Myocarditis, Abnormality of the spleen, Urethri... |
ORPHA:2552 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Delayed skeletal matur... |
OMIM:148050 |
| Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Joint hypermobility |
OMIM:617988 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Shoulder dislocation, Dislocated radial ... |
OMIM:245600 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Lipoatrophy, Long fingers, Flexion contracture, Increased arm span, Add... |
ORPHA:284979 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Posteriorly rotated ears, Single transverse palmar crease, Hearing impairment, Low-set ears, Camp... |
OMIM:613604 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Edema, Myocarditis, Leukocytosis, Thromboc... |
ORPHA:544482 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Kyphosis, Long... |
ORPHA:401973 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Overlapping toe, Limb joint contracture, Scoliosis, Tapered finger |
OMIM:300004 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Temple Syndrome |
|
Posteriorly rotated ears, Small hand, Short foot, Scoliosis, Clinodactyly |
OMIM:616222 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Large for gestational age, Flexion contracture, Hemi... |
ORPHA:96334 |
| Clark-Baraitser Syndrome |
|
Large earlobe, Clinodactyly, Sandal gap, Low-set ears |
OMIM:617752 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Scoliosis, Tapered finger |
OMIM:618825 |
| Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... |
OMIM:146510 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Arachnodactyly |
ORPHA:2707 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H... |
ORPHA:466650 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:219080 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... |
ORPHA:520 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Retinal hemo... |
ORPHA:509 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620126 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Pollakisuria, Hypertension, Impotence, Compulsive behaviors, Hypotension, Urinary blad... |
ORPHA:93256 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly... |
OMIM:616894 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Cervical spine instab... |
OMIM:609192 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Tapered finger, Obesity, Thoracic kyphosis, Overgrowth, Scoliosis |
OMIM:620250 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Sacral dimple, Hand muscle atrophy, Prominent fingertip pads, Ar... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Sacral dimple, Hand muscle atrophy, Prominent fingertip pads, Ar... |
ORPHA:363958 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Delayed closure of the anterior fontanelle, Wide anter... |
OMIM:225410 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610475 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Kyphosis, D... |
ORPHA:464738 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Poliomyelitis |
|
Stiff neck, Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia |
ORPHA:2912 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsi... |
ORPHA:2131 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos... |
OMIM:613795 |
| Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Sacral dimple, Overlapping toe, Single transverse palmar crease, Short f... |
OMIM:610954 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Shukla-Vernon Syndrome |
|
Long fingers, Tapered finger |
OMIM:301029 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
| Familial Visceral Myopathy |
|
Umbilical hernia, Arachnodactyly, Camptodactyly of finger |
ORPHA:2604 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Flexion contracture, Scoliosis, Tapered finger |
OMIM:616505 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscoliosis, Tapered fing... |
ORPHA:488642 |
| Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
| Dpagt1-Cdg |
|
Arachnodactyly, Lipodystrophy, Flexion contracture, Scoliosis, Camptodactyly, Clinodactyly |
ORPHA:86309 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Prominent fingertip pads, Tapered finger |
OMIM:615722 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of... |
ORPHA:83617 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... |
ORPHA:521426 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
| Noonan Syndrome 14 |
|
Scapular winging, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited... |
OMIM:619745 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:702 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Short neck, Kyphosis, Split hand, Flexion contracture, Umbilical hernia, Tracheo... |
OMIM:309900 |
| Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Kyphosis, Abnormal rib morphology, Joint hyperflexibility, Abnormality o... |
ORPHA:77301 |
| Erythrokeratodermia Variabilis |
|
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger |
ORPHA:317 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Short hallux, Short neck, Wide anterior fontanel, Long fing... |
ORPHA:3309 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Hemivertebrae, Scoliosis, Short neck |
ORPHA:1394 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Short neck, Tapered finger |
ORPHA:1438 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Tapered finger, Flexion contracture, Hip dysplasia, Talipes equinovarus, Scoliosis, Clinodactyly ... |
OMIM:619293 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Short neck, Multifocal epileptiform discharges, EEG abnormal... |
ORPHA:369891 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| 2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Sandal gap, Camptodactyly of finger, Tapered finger, Me... |
ORPHA:261349 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Polydipsia, Amenorrhea |
ORPHA:91351 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Microtia, Low-set ears |
ORPHA:357175 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... |
OMIM:101200 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Flexion contracture, Scoliosis, Enamel hypoplasia |
ORPHA:90322 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Genu recurvatum, Tapered finger, Short 3rd toe, Joint hyperflexibility, Short 4th toe |
OMIM:618707 |
| Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Short neck, Shortening of all distal phalanges o... |
OMIM:616202 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... |
OMIM:214700 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Hip dysplasia, Small hand, Tapered finger |
OMIM:618672 |
| Distal Deletion 10Q |
|
Scapular winging, Lumbar hyperlordosis, Sandal gap, Single transverse palmar crease, Abnormal mor... |
ORPHA:96148 |
| Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibil... |
ORPHA:60030 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Increased susceptibility to fractures, Attention deficit hyperactivity disorder, Dys... |
ORPHA:216866 |
| Kabuki Syndrome |
|
Vertebral clefting, Hemivertebrae, Hip dislocation, Abnormal form of the vertebral bodies, Small ... |
ORPHA:2322 |
| Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Inguinal hernia, Congenital diaphragmatic hernia, Kyph... |
OMIM:609029 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Abnormal dental enamel morphology, Kyphosis, Wide anterior ... |
ORPHA:85199 |
| Papillon-Lefèvre Syndrome |
|
Cigarette-paper scars, Arachnodactyly, Palmoplantar hyperkeratosis, Palmoplantar keratoderma |
ORPHA:678 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hip dislocation, Camptodactyly, Hiatus hernia |
OMIM:617729 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Tapered finger |
ORPHA:171829 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Single transverse palmar crease, Kyphosis, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
| You-Hoover-Fong Syndrome |
|
Hearing impairment, Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinovarus, Talipes e... |
OMIM:618343 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, P... |
OMIM:610168 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Kyphosi... |
OMIM:617527 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Hip dysplasia, Bilateral talipe... |
OMIM:617807 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Lar... |
ORPHA:100050 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Cortical thickening of long bone diap... |
ORPHA:309282 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, P... |
OMIM:606721 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Arachnodactyly, Scarring, Hiatus hernia, Atrophic scars, Distal arthrogryposis, Talipes equinovar... |
OMIM:601776 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Microtia, Low-set ears |
OMIM:615162 |
| Lassa Fever |
|
Shock, Back pain, Menometrorrhagia, Facial edema, Oliguria, Dysphagia |
ORPHA:99824 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Noonan Syndrome 13 |
|
Joint laxity, Prominent metopic ridge, Overlapping toe, Short neck, Tapered finger, Metatarsus ad... |
OMIM:619087 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Obesity, Genu va... |
OMIM:620072 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Long toe, Inguinal hernia, Sandal gap, Hallux varus, Short neck, Tapered finger, Der... |
OMIM:158170 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal thumb morphology, Inguinal hernia, Arachnodactyly |
ORPHA:2719 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Posteriorly rotated ears, Short neck, Microtia, Scoliosis, Low-set ears, C... |
OMIM:618336 |
| Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Craniosynostosis, Long fingers, Large hands, Scoliosis |
OMIM:613174 |
| Vipoma |
|
Hypercalcemia, Anorexia, Dehydration, Weight loss, Hematochezia, Normochromic anemia, Hypokalemia... |
ORPHA:97282 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormality of the hand, Abnormal auditory evoked po... |
ORPHA:171929 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short foot, Clinodactyly, Small hand, Scoliosis |
ORPHA:96184 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Single transverse palmar crease, EEG abnormality, Prominent fingertip pads, Hypoplastic helices, ... |
ORPHA:391372 |
| Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Single transverse palmar crease, Hearing impairment, Overfolded helix, Protrud... |
OMIM:618950 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,... |
ORPHA:263508 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Hypoca... |
OMIM:612301 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Kyphosis, Genu recurvatum, Scoliosis |
ORPHA:364028 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Short neck, Elbow dislocat... |
ORPHA:3107 |
| Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Hypospadias, Joint stiffness... |
ORPHA:2588 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... |
ORPHA:293978 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Small hand, Narrow palm, Osteoporosis, Genu valgum,... |
OMIM:176270 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Conductive hearing impai... |
OMIM:154400 |
| Cowden Syndrome 5 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615108 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly |
OMIM:264480 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
| Infantile Liver Failure Syndrome 1 |
|
Long toe, Long fingers |
OMIM:615438 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Talipes equinovarus, Low-set ears, Clinodactyly, Macrotia |
OMIM:616789 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Single tr... |
OMIM:613385 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Microtia, Symphalangism of the ... |
ORPHA:1439 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Flexion contracture, Slender finger, Adducted thumb |
OMIM:300243 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... |
OMIM:210710 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Elbow flexion contracture, Genu v... |
OMIM:619194 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Inguinal hernia, Craniosynostosis, Limited wrist moveme... |
ORPHA:576 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe... |
OMIM:139210 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Posteriorly rotated ears, Mesomelia, Low-set ears, Camptodactyly, Promi... |
OMIM:618529 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Van Maldergem Syndrome 1 |
|
Sacral dimple, Short fourth metatarsal, Wide anterior fontanel, Sensorineural hearing impairment,... |
OMIM:601390 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bil... |
OMIM:227810 |
| Van Maldergem Syndrome 2 |
|
Sacral dimple, Short fourth metatarsal, Ulnar deviation of the hand, Wide anterior fontanel, Sens... |
OMIM:615546 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tapered finger, Clinodactyly, Scoliosis, Camptodactyly |
OMIM:619576 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Syndactyly, Clinodactyly, Multifocal epileptiform discharges |
OMIM:618087 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Polyhydra... |
ORPHA:50945 |
| Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... |
OMIM:154780 |
| Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilate... |
OMIM:242840 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, He... |
ORPHA:2968 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Sensorineural hearing impairment, Talipes equinov... |
ORPHA:397709 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Single tran... |
OMIM:300998 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Hip dislocation, Narrow palm, Hip dysplasia, Scolios... |
OMIM:619435 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropeni... |
ORPHA:124 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610489 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F, Self-injurious behavior, R... |
OMIM:617101 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Cowden Syndrome 6 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615109 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abnormal fibula morphology, Absent foo... |
ORPHA:93929 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Down-sloping shoulders, Single transverse palmar crease, Elbow flexion c... |
OMIM:616200 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad hallux, Tapered finger, Short neck, Short thumb, Hip dysplasia, Bilateral talipes equinovar... |
OMIM:620224 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger... |
OMIM:266920 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Hypoplastic sacrum, Rhizomelia, Brachydactyly, Posteriorly rotated ears, Short ... |
OMIM:614813 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Anemia, Decreased cervical spine mobility |
ORPHA:71272 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Slender finger, Proximal placement of thumb |
OMIM:610536 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Joint hyperflexibility, Curved middle phalanx of the 4th toe, Arachnodactyly |
ORPHA:276413 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Tapered finger, Short toe, Joint hyperflexibility, Truncal obesity, Abnormal hip bone morphology,... |
ORPHA:127 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Overlapping fingers, Bilateral talipes equinovarus, Kyphosis, Knee flexion contracture |
OMIM:619708 |
| Cystic Fibrosis |
|
Male infertility, Hypercalciuria, Dehydration, Hepatosplenomegaly, Clubbing of fingers, Failure t... |
OMIM:219700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding ... |
OMIM:300966 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Single transverse palmar crease, Craniosynostosis, Short neck, Long fingers, Hemiv... |
ORPHA:96121 |
| 16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Hip dysplasia, Scoliosis, Proximal placement of thumb |
ORPHA:261250 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Short neck, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
| Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Accelerated skeletal maturation, Hypoplastic iliac wing, Long fingers, ... |
OMIM:617561 |
| Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, S... |
OMIM:305450 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Kyphosis, Ankle clonus, Scoliosis |
OMIM:211530 |
| W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Thrombocytopenia, Hyperammonemia, Intracranial hemorrhage, Ag... |
ORPHA:90062 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia... |
OMIM:613406 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hypoplasia of the radius, Hemivertebrae, Hip dislocation, Abnormal form of... |
ORPHA:3412 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Single transverse palmar crease, Congenital sensorineural hearing impairment, Sensorineural heari... |
ORPHA:73272 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Overweight, Lumbar scoliosis, Cervical C2/C3 vertebral fu... |
OMIM:617796 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal hernia, Joint hypermobility, D... |
OMIM:278250 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Hypogonadotropic hypogonadism, Amenorrhea, Polydactyly, Infertility, Hypotension, Ost... |
ORPHA:95494 |
| Trisomy 17P |
|
Tapered finger, Short neck, Flexion contracture, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:261290 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Edema, Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, L... |
ORPHA:79277 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe... |
ORPHA:573278 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Scoliosis, Hearing impairment |
ORPHA:2169 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Long hallux, Clinodactyly, Macrotia, Broad thumb |
OMIM:620194 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Po... |
OMIM:277170 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Broad hallux, Arachnodactyly, Short finger, Cubitus valgus |
OMIM:601552 |
| Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers, Short long b... |
ORPHA:79324 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hearing impairment, Optic atrophy, Low-set ears, Clinodactyly, Short distal phalanx of finger, Br... |
OMIM:614261 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Microtia... |
OMIM:164220 |
| Bartsocas-Papas Syndrome 1 |
|
Short neck, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Synd... |
OMIM:263650 |
| Nizon-Isidor Syndrome |
|
Prominent fingertip pads, Long fingers, Thoracolumbar kyphosis |
OMIM:618872 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Cutaneous syndactyly, Talipes equinovarus, Low-set ear... |
OMIM:617822 |
| 22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Short neck, Obesity, Multiple suture craniosynostosis, Joint hyperflexibility, Ar... |
ORPHA:567 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... |
OMIM:227330 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single... |
OMIM:303600 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Hypotension |
OMIM:608643 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Long fingers, Talipes equinovarus, Scoliosis, Slender finger, Tibial torsion |
OMIM:613355 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Short neck, Long fingers, Hip dislocation, Contractures of the large j... |
ORPHA:96092 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hemivertebrae |
OMIM:620331 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Clinodactyly, Ectrodactyly, Sensorineural hearing impairment |
OMIM:147950 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Foot joint contracture, Ulnar deviation of the 3rd finger, Proximal p... |
ORPHA:456312 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Tapered finger |
OMIM:181600 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bottom foot, Ulnar bowing, Humeroradi... |
OMIM:201750 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tapered finger, Flexion contracture, Interphalangeal thumb joint contracture |
OMIM:613870 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
| Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormality of the hand, Abnor... |
ORPHA:909 |
| 20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Sacral dimple, Tapered finger, Abnormal limb bone morphology, Hip dislocation, Tal... |
ORPHA:261311 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Joint laxity, Long fingers, Long toe, Broad distal phalanx of finger |
ORPHA:363686 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
| Yellow Fever |
|
Shock, Renal insufficiency, Neutrophilia, Anuria, Supraventricular arrhythmia, Hematemesis, Leuko... |
ORPHA:99829 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Posterior rib gap, Tracheomalacia |
ORPHA:1393 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Urinary incontinence, Dysphagia, Titubation |
ORPHA:225147 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Cupped ear, L... |
OMIM:615560 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomel... |
OMIM:605039 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Proximal placement of thumb, Short neck, Wide anterior fon... |
OMIM:217980 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Aganglionic megacolon, Short neck, Cupped ear, Shortening of a... |
ORPHA:247262 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated ... |
ORPHA:465508 |
| Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... |
ORPHA:2886 |
| Developmental And Epileptic Encephalopathy 2 |
|
Short foot, Small hand, Scoliosis, Tapered finger |
OMIM:300672 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Truncal obesity, Hyperos... |
OMIM:203800 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th ... |
ORPHA:544488 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Hypogonadotropic hypogonadism, Infertility, Hypotension, Osteoporosis of vertebrae, D... |
ORPHA:90695 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:304050 |
| Cowden Syndrome 1 |
|
Kyphosis, Subcutaneous lipoma, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:158350 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia, Hiatus hernia |
OMIM:601162 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Single transverse palmar crease, Tapered finger, Broad palm, Scoliosis, Prominent fingertip pads,... |
OMIM:617804 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphys... |
OMIM:157800 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia |
OMIM:256500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Hip dysplasia, Talipes e... |
OMIM:301066 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... |
ORPHA:251071 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Sagittal craniosynostosis, Absent thumb, He... |
ORPHA:500150 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Aspartylglucosaminuria |
|
Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior bea... |
ORPHA:93 |
| Atelis Syndrome 2 |
|
Kyphosis, Clinodactyly, Sacral dimple, Single transverse palmar crease |
OMIM:620185 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Short thumb, Hip dysplasi... |
OMIM:300895 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Micro Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
| Radio-Tartaglia Syndrome |
|
Brachydactyly, Obesity, Scoliosis, Tapered finger |
OMIM:619312 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Scoliosis, Camptod... |
OMIM:616737 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Posteriorly rotated ears, Overfolded helix, Low-set ears, Scoliosis, Clinodactyly, Spina bifida o... |
OMIM:617360 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger |
OMIM:239300 |
| Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
| Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo... |
OMIM:611174 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Shor... |
OMIM:613458 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture of the hand,... |
OMIM:251300 |
| Lissencephaly 6 With Microcephaly |
|
Single transverse palmar crease, Tapered finger |
OMIM:616212 |
| X-Linked Intellectual Disability, Pai Type |
|
Inguinal hernia, Tapered finger |
ORPHA:85322 |
| Tolchin-Le Caignec Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Arachnodactyly |
OMIM:618971 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Horizontal ribs, Early ossification of capital femoral epiphyses, Cone-sh... |
OMIM:208500 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly |
OMIM:614838 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Hyperextensible thumb, Sacral dimple, Congenital hip dislocation, Joint laxity, Thora... |
ORPHA:480880 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... |
ORPHA:464311 |
| Digeorge Syndrome |
|
Pilonidal sinus, Inguinal hernia, Femoral hernia, Patellar dislocation, Scoliosis, Umbilical hern... |
OMIM:188400 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sandal gap, Small hand, Short foot, Radial deviation of finger, Short finger, Low-set ears, Clino... |
OMIM:270450 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Scoliosis, Camptodactyly, Brachydactyly |
OMIM:601353 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Sensorineural hearing impairment, Optic ... |
ORPHA:79330 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bon... |
OMIM:613805 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Abnormal dental enamel morphology, Proximal placement of thumb, Sh... |
ORPHA:818 |
| 3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Preaxial polydactyly, Radioulnar synostosis, Auricular ... |
OMIM:248340 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, ... |
OMIM:263520 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones |
OMIM:616831 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Scoliosis, Broad thumb, Bilateral single transverse palm... |
ORPHA:1236 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Wide anterior fo... |
OMIM:617746 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Optic atrophy, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi... |
OMIM:300968 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Increased femoral anteversion, Scoliosis |
OMIM:619005 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Umbilical hernia, Hip dysplasia, Tapered finger |
OMIM:616977 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:608836 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... |
OMIM:620306 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... |
ORPHA:101330 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Large for gesta... |
ORPHA:672 |
| Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Small hand, Genu valgum, Short 5th finger, Lumbar kyphoscoliosis... |
ORPHA:1449 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Long fingers, 2-3 toe cutaneous syndactyly, Down-sloping shoulders, Short neck |
OMIM:301091 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Joint laxity, Toe syndactyly, Single transverse palmar crease, Tapered finger, Flexion contractur... |
OMIM:619720 |
| Cowden Syndrome |
|
Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Lipoma, Brachydactyly |
ORPHA:201 |
| Peho Syndrome |
|
Tapered finger |
OMIM:260565 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Aplasia of the ... |
OMIM:619841 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, Abnormal toe morph... |
ORPHA:79500 |
| Proteus Syndrome |
|
Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger... |
ORPHA:744 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Deeah Syndrome |
|
Cervical hemivertebrae, Short neck, Delayed skeletal maturation, Scoliosis, Overlapping fingers, ... |
OMIM:619004 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short finger, Tapered finger |
ORPHA:1867 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Short neck, Proximal placement of thumb,... |
OMIM:261540 |
| Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Pathologic fracture, Bea... |
OMIM:208400 |
| Diphallia |
|
Absent thumb, Hemivertebrae, Scoliosis, Butterfly vertebrae, Abnormal pubic bone morphology |
ORPHA:227 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati... |
ORPHA:324540 |
| Aymé-Gripp Syndrome |
|
Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Radioulnar ... |
ORPHA:1272 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Overgrowth, Arachnodactyly, Joint hypermobility |
OMIM:614437 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Obesity, Tapered finger |
OMIM:619680 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Areflexia of upper limbs, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebr... |
ORPHA:268882 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... |
ORPHA:209905 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
| Viss Syndrome |
|
Long toe, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Kyphosis, Hip dislocation, Genu va... |
OMIM:619472 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Kyphoscoliosis, Acanthocyto... |
ORPHA:14 |
| Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Hiatus hernia, Short neck, Tapered finger, Broad fingertip, Shor... |
ORPHA:2896 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618829 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture |
OMIM:212065 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Short neck, Sensorineural hearing impairment, 2-3 toe syndactyly, EEG with generalized... |
ORPHA:488632 |
| Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Multiple lipomas,... |
ORPHA:636 |
| Incontinentia Pigmenti |
|
Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
| Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Tapered finger, Short ... |
OMIM:619148 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly |
OMIM:603585 |
| Short Syndrome |
|
Enlarged epiphyses, Sensorineural hearing impairment, Slender long bone, Low-set ears, Radial dev... |
OMIM:269880 |
| Chromosome 15Q25 Deletion Syndrome |
|
Long fingers, Inguinal hernia, Congenital diaphragmatic hernia, Short neck |
OMIM:614294 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Tapered finger, Kyphoscoliosis, Short neck |
OMIM:615803 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
| Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short n... |
OMIM:608156 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Spinal rigidity, Flexion contracture, Pectoralis hypoplasia, Talipes equinovarus,... |
OMIM:254940 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... |
OMIM:216400 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Short neck, Tapered fin... |
ORPHA:444072 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:881 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory ... |
OMIM:133540 |
| Plague |
|
Tachycardia, Edema, Anorexia, Hematemesis, Splenomegaly, Arthritis, Hypotension, Arrhythmia |
ORPHA:707 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Kyphoscoliosis, Tapered finger, Short neck, Obesity, Genu valgum, Talipes equinovarus, Radial dev... |
OMIM:309580 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Scoliosis, Macrotia, Abnormality of periphera... |
ORPHA:90321 |
| Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Clinodactyly, Microtia, Absent antihelix |
ORPHA:293939 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger |
OMIM:612949 |
| Periventricular Nodular Heterotopia 9 |
|
Posteriorly rotated ears, Single transverse palmar crease, Tapered finger, Microtia, Squared supe... |
OMIM:618918 |
| Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Inguinal hernia, Sandal gap, Single transverse palmar crease, Congen... |
OMIM:135900 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Cellulitis |
OMIM:153400 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Accelerated skeletal maturation, 2-3 toe syndactyly, Obesity, Sc... |
OMIM:618653 |
| 19P13.13 Microdeletion Syndrome |
|
Sandal gap, Optic nerve hypoplasia, Long fingers, Optic atrophy, Low-set ears, Clinodactyly, Macr... |
ORPHA:357001 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Tapered finger |
OMIM:620070 |
| Immunodeficiency 59 And Hypoglycemia |
|
Slender finger |
OMIM:233600 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Sacral dimple, Inguinal hernia, Hyperextens... |
OMIM:619503 |
| Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis |
OMIM:266270 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Overgrowth, Large for gestational age, Tapered finger |
ORPHA:261652 |
| Cronkhite-Canada Syndrome |
|
Tapered finger |
ORPHA:2930 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Clinodactyly of the 5th finger, Short thumb, Abnormal vertebral morphology, Tapered finger |
OMIM:616728 |
| Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Conductive hearing impairment, 4-5 finger syndactyly, Hip dislocation,... |
OMIM:164200 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Posteriorly rotated ears, Tapered finger, Small hand, Overfolde... |
OMIM:301044 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Tapered finger |
ORPHA:401777 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial sutures, Radiouln... |
OMIM:619325 |
| Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:963 |
| Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:314769 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-... |
ORPHA:3261 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Short neck |
OMIM:156610 |
| 8Q24.3 Microdeletion Syndrome |
|
Long toe, Thoracic scoliosis, Inguinal hernia, Congenital hip dislocation, Single transverse palm... |
ORPHA:508488 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormali... |
ORPHA:2273 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Wide anterior fon... |
OMIM:618371 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phalanx, Tapered finger,... |
OMIM:200990 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Hearing impairment, Sensorineural hea... |
OMIM:602782 |
| Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Short neck, Small hand, Short foot, Bilateral talipes equinovarus, Clinodactyly ... |
ORPHA:177907 |
| Oeis Complex |
|
Absence of the sacrum, Congenital hip dislocation, Sacral segmentation defect, Hemivertebrae, Tal... |
OMIM:258040 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Abnormality of the hand, Tapered finge... |
ORPHA:319182 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Sacral dimple, Brachydactyly, Rhizomelia, Broad toe, Post... |
OMIM:180700 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, K... |
OMIM:606170 |
| Galloway-Mowat Syndrome 4 |
|
Tapered finger |
OMIM:617730 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Scoliosis, Clinodactyly of the 5th finger, Clinodac... |
ORPHA:96182 |
| Developmental And Epileptic Encephalopathy 80 |
|
Talipes equinovarus, Short distal phalanx of finger, Triphalangeal thumb, Tapered finger |
OMIM:618580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phal... |
OMIM:300967 |
| Primrose Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Metatarsus adduct... |
OMIM:259050 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Cryptorchidism, Dehydration, Oligohydramnios |
ORPHA:96191 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Abnor... |
ORPHA:1708 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Long fingers, Hypoplastic coccygeal vertebrae, Bilateral talipes equi... |
OMIM:619512 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Inguinal hernia, Toe syndactyly, Single transverse palmar crease, Tapered finger, ... |
ORPHA:459070 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Long fingers, Calc... |
OMIM:256520 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Abnormality of t... |
ORPHA:521445 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, F... |
ORPHA:261537 |
| Goldberg-Shprintzen Syndrome |
|
Short neck, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyly of the 5th fi... |
OMIM:609460 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Aicardi Syndrome |
|
Block vertebrae, Small hand, Hip dysplasia, Scoliosis, Butterfly vertebrae |
ORPHA:50 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Bifid femur, Abnormality of bone mineral density, Scoli... |
ORPHA:138 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Single transverse palmar crease, Low-set ears, Round ear, Clinodactyly of the 5th fin... |
OMIM:614114 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger |
OMIM:118450 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Flexion contractur... |
ORPHA:487796 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Inguinal hernia, Tapered finger, Abnormal toe morphology, Kyphosis,... |
ORPHA:268261 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Long toe, Short humerus, Short femur, Lipoatrophy, Short nec... |
OMIM:264090 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Mixed hearing impairment, Duplication of thumb pha... |
ORPHA:2363 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limitation of joint mobility, Tapered fi... |
ORPHA:2836 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Long fingers, Distal arthrogryposis, Patellar dislocation, Finger join... |
OMIM:617557 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Lipodystrophy, Camptodactyly of finger, Adipose tissue loss,... |
OMIM:256040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Posteriorly rotated ears, Hearing impairment, Tapered finger, Cupped ear, Small ... |
OMIM:309590 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Holoprosencephaly 13, X-Linked |
|
Thoracic hemivertebrae, Vertebral clefting, Butterfly vertebrae |
OMIM:301043 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Toluene Embryopathy |
|
Tapered finger |
ORPHA:1920 |
| Congenital Myopathy 17 |
|
Overlapping toe, Tapered finger, Low-set ears, Hand clenching, Overlapping fingers, Clinodactyly |
OMIM:618975 |
| Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Hearing impairment, Short neck, Wide anterior f... |
ORPHA:3338 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers, Achilles tendon con... |
OMIM:616263 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Low-se... |
ORPHA:101000 |
| Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Hypoplastic iliac wing, Condu... |
OMIM:190685 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Sandal gap, Broad hallux, Hyperlordosis, Tapered finger, Small hand, Obesity, Genu ... |
OMIM:615873 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis |
ORPHA:171629 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Limb joint contracture, Tapered finger, Flexion contracture, Truncal obesity, Scoliosis |
OMIM:301072 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Short neck, Hyperlordosis, Tapered finger, Lo... |
OMIM:619950 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Obesity, Brachydactyly |
OMIM:616368 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Clinodactyly, Posteriorly rotated ears, Low-set ears, Short distal phalanx of finger |
OMIM:615866 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb |
OMIM:614501 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, F... |
ORPHA:261552 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Postaxial polydactyly, Sensorineural hearing impairment, Scoliosis, Clinodactyly |
OMIM:618460 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... |
ORPHA:97685 |
| Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Tricuspid regurgitation, Small for gestational age, Craniosynostosis, Wide anterior f... |
OMIM:612289 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Long toe, Short humerus, Short femur, Lipoatrophy, Irregular... |
ORPHA:3455 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Lymphedema, Intracranial hemorrhage, Hypoalbuminemia, Jo... |
ORPHA:79318 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Talipes equinovarus, Tapered finger |
OMIM:613603 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Absent radius, S... |
OMIM:214800 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot polydactyly, L... |
OMIM:213300 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Short neck, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th... |
OMIM:616734 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
| Isolated Posterior Meningocele |
|
Thoracic hemivertebrae |
ORPHA:268810 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proportionate shortening of all digits, Tapered finger, Short neck, Small hand, Short foot, Flexi... |
ORPHA:280633 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Tapered finger, Scoliosis, Camptodactyly ... |
ORPHA:261337 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Short neck, Hypsarrhythmia, Scoliosis, Clinodac... |
ORPHA:75857 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Faundes-Banka Syndrome |
|
Lumbar hemivertebrae, Joint hypermobility, Flexion contracture of toe |
OMIM:619376 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Long fingers, Upper limb undergrowth, Short foot, Scoliosis, Short palm |
OMIM:614527 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Mixed hearing impairment, Broad hallux, Single transverse palmar crease, Faci... |
OMIM:620186 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly, Sensorineural hearing impairment |
OMIM:616541 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Broad 2nd toe, Conductive hearing impairment, Overfolded helix, Palmoplantar hy... |
OMIM:280000 |
| Williams Syndrome |
|
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:904 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Tapered finger, Absence of subcutaneous fat, Small hand, Hip dysplasia |
OMIM:620005 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Stippled calcifi... |
ORPHA:51608 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis of the capital fe... |
ORPHA:2044 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Hearing impairment, Short 2nd toe, Polydactyly, Radial deviation of finger, Low-set e... |
OMIM:311200 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal metaphysis morphology, Tapered finger |
ORPHA:86818 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Low-set, posteriorly rotated ears, Clinodactyly, Camptodactyly |
ORPHA:228426 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Hyperlordosis, Short th... |
OMIM:113620 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Contractures of the large joints, Congenital contr... |
ORPHA:191 |
| Maternal Phenylketonuria |
|
Clinodactyly, Hypoplastic helices, Brachydactyly, Bifid distal phalanx of the thumb |
ORPHA:2209 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Enamel hypoplasia, Flexion contracture, Scoliosis |
ORPHA:90324 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Inguinal hernia, Ankle flexion contractur... |
ORPHA:821 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
| Esophageal Atresia |
|
Clinodactyly, Abnormal vertebral morphology, Scoliosis, Hearing impairment |
ORPHA:1199 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomal... |
ORPHA:444077 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Short neck,... |
OMIM:249000 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hepatomegaly, Hyponatremia, Ventricular septal defect, Left atrial enlargement, ... |
OMIM:619991 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Joint laxity, Osteomyelitis, Single transverse palmar crease, Kyphosis, Abnormal curva... |
OMIM:619475 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Short neck, Simple ear, Postaxial hand polydactyly, Polydactyly, Low-set ... |
OMIM:613610 |
| Noonan Syndrome 1 |
|
Kyphoscoliosis, Short neck, Hearing impairment, Sensorineural hearing impairment, Radial deviatio... |
OMIM:163950 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Coffin-Siris Syndrome |
|
Clinodactyly, Short 5th finger, Scoliosis, Hearing impairment |
ORPHA:1465 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Clinodactyly, Optic atrophy, Low-set ears, Hearing impairment |
OMIM:618164 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Abnormal pinna morphology, Abnormal palmar dermatoglyphics, Kyp... |
OMIM:309800 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Tapered finger, Narrow palm, Hand clenching, Limited elbow extension, Joint hypermobility, Adduct... |
OMIM:616973 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Epistaxis, Pseudobulbar paralysis |
ORPHA:268943 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Sho... |
OMIM:601803 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Umbilical hernia |
OMIM:620330 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Sensorineural hearing impairment, Clinodactyly, Broad thumb, Hea... |
OMIM:612541 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Scoliosis, Ver... |
OMIM:164210 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Posteriorly rotated ears, Abnormal pinna morph... |
OMIM:268300 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Single transverse palmar crease, Tapered finger, Short thumb, Short foot, Short 5th fi... |
OMIM:619522 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Posteriorly rotated ears, Low-set ears, Camptodactyly |
OMIM:619343 |
| Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly |
OMIM:601088 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Scapular winging, Tapered finger, Deep pa... |
OMIM:619539 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Scoliosis, Tapered finger |
OMIM:619480 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Tapered finger |
OMIM:617330 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, F... |
ORPHA:2152 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Alström Syndrome |
|
Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe, Hyperostosis frontalis interna, L... |
ORPHA:64 |
