| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Broad hallux, Tall stature, Long ... |
OMIM:615923 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Parastremmatic Dwarfism |
|
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis |
OMIM:168400 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... |
OMIM:617974 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal jo... |
ORPHA:93351 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h... |
ORPHA:40 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio... |
ORPHA:968 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Arachnodactyly, Scoliosis, Increased arm span, Disproportionate tall stature |
OMIM:618793 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa... |
OMIM:277950 |
| Hip Dysplasia, Beukes Type |
|
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Sillence Syndrome |
|
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis |
OMIM:618453 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... |
ORPHA:93311 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... |
OMIM:271530 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture... |
OMIM:184255 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Craniosynostosis, Adelaide Type |
|
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... |
OMIM:600593 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Alpha-2-Deficient Collagen Disease |
|
Arachnodactyly, Disproportionate tall stature |
OMIM:203760 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Hip osteoarthritis, Delayed epiphyseal ossification, Broad femoral neck, Ir... |
OMIM:132400 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... |
ORPHA:163665 |
| Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts |
OMIM:613824 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... |
OMIM:127300 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... |
OMIM:182255 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Spina bifida occulta a... |
OMIM:102510 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Tall stature, Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis, Dispropo... |
ORPHA:2181 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... |
OMIM:603546 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Inguinal hernia, Brachydactyly, Short femoral neck, Kyphosis, Delay... |
OMIM:618392 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver... |
OMIM:609223 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Telangiectasia, Abnormality of the kidney, Intracranial hemor... |
ORPHA:284227 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ... |
OMIM:609616 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... |
OMIM:614135 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Arachnodactyly, Long toe, Large hands, Thoracic kyphosis |
OMIM:300263 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... |
OMIM:263400 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
OMIM:113000 |
| Aase-Smith Syndrome |
|
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Joint stiffness, Abnor... |
ORPHA:916 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... |
OMIM:184252 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Arachnodactyly, Disproportionate tall stature, Thoracic kyphosis |
ORPHA:2172 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Haim-Munk Syndrome |
|
Arachnodactyly, Osteolytic defects of the phalanges of the hand, Congenital palmoplantar hyperker... |
OMIM:245010 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Joint stiffness, Bilateral single transverse palmar creases, Arachno... |
ORPHA:1548 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... |
OMIM:601344 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
|
Arachnodactyly, Joint contracture of the 5th finger, Disproportionate tall stature |
OMIM:300799 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
| Radial Hemimelia |
|
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... |
ORPHA:93321 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Scoliosis, Kyphosis, Joint contracture, Ankle clonus |
OMIM:611225 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Atrophic scars, Distal joint hypermobility, Scapular winging, Flexion contractur... |
OMIM:616471 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu... |
ORPHA:85198 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... |
OMIM:609052 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormal rib mor... |
ORPHA:1836 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... |
OMIM:607004 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... |
ORPHA:1436 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... |
OMIM:618728 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Talipes equinovar... |
OMIM:601382 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Failure to thrive, Polydip... |
ORPHA:223 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, Protruding ear, Cubitus valgus, 2-3 ... |
OMIM:610313 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... |
ORPHA:337 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of... |
ORPHA:2619 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu... |
ORPHA:2635 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... |
ORPHA:411634 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... |
OMIM:271630 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... |
ORPHA:429 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... |
OMIM:604864 |
| Boudin-Mortier Syndrome |
|
Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Tall stature, Long hallux, Mallet finger, Ps... |
OMIM:619543 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme... |
ORPHA:85166 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Hypoplasia of the femoral he... |
OMIM:226900 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Reduced bone mineral density, Bowi... |
ORPHA:2501 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee flexion contracture, ... |
OMIM:313420 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... |
OMIM:271650 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612924 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnormal rib morphol... |
ORPHA:1354 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... |
OMIM:208230 |
| Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
|
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Scoliosis, Split hand, Split foot, Tapered finger |
OMIM:220600 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612926 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Knee flexion contracture, Hip cont... |
OMIM:600175 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Platyspondyly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasi... |
OMIM:226980 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypotension, Failure to thrive, Increased circulating renin level, Renal insuf... |
ORPHA:95409 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutane... |
ORPHA:166024 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Short femoral neck, Knee dislocation, Small epiphyses, Genu valgum, Inguinal hernia, Hip contract... |
OMIM:618363 |
| Arthrogryposis, Distal, Type 2B2 |
|
Sandal gap, Broad hallux, Short toe, Clinodactyly, Ulnar deviation of the wrist, Overlapping fing... |
OMIM:618435 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Short long bon... |
OMIM:102370 |
| Mass Syndrome |
|
Arachnodactyly, Scoliosis, Disproportionate tall stature |
OMIM:604308 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Pulmonary ... |
OMIM:613845 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte... |
OMIM:619345 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... |
OMIM:607078 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Flattened femoral head, Hip osteoarthritis, Hump-shaped mound of bone in central a... |
ORPHA:99642 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor... |
ORPHA:3098 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... |
ORPHA:53697 |
| Microvillus Inclusion Disease |
|
Hypovolemia, Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
| Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... |
OMIM:259450 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... |
OMIM:222600 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
| Léri-Weill Dyschondrosteosis |
|
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Seckel Syndrome 7 |
|
Madelung deformity, Lumbar scoliosis, Hip dysplasia, Clinodactyly of the 5th finger, Short middle... |
OMIM:614851 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:93346 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... |
OMIM:156510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Hip dislocation, Talipes equinovarus, Short foot, Scoliosis, Kyphosis |
OMIM:300434 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... |
OMIM:259440 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis, Camptodactyly of finger |
ORPHA:3180 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... |
OMIM:619468 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta... |
ORPHA:3104 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Tall stature, Kyphoscoliosis |
OMIM:236660 |
| Bruck Syndrome |
|
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... |
ORPHA:2771 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Lumbar hy... |
OMIM:618167 |
| Sprengel Deformity |
|
Hemivertebrae, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Shoulder muscle hyp... |
OMIM:184400 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Ver... |
OMIM:610967 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Oliguria, Congestive heart failure, Hypomagnesemia, Leukocytosis,... |
ORPHA:31824 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... |
OMIM:112350 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow... |
OMIM:201250 |
| Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ... |
OMIM:618658 |
| Gombo Syndrome |
|
Brachydactyly, Radial deviation of finger, Clinodactyly |
OMIM:233270 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Hearing impairment, Clinodactyly, Foot oligodactyly, Ectrodactyly, ... |
OMIM:183600 |
| Ullrich Congenital Muscular Dystrophy |
|
Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin... |
ORPHA:75840 |
| Familial Hypoaldosteronism |
|
Hypotension, Decreased urinary potassium, Orthostatic hypotension, Proximal renal tubular acidosi... |
ORPHA:427 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... |
ORPHA:47159 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Short distal phalanx of finger, Clinodactyly ... |
OMIM:311895 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper... |
OMIM:620269 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Talipes equinovarus, Kyphosis |
ORPHA:85288 |
| Ruvalcaba Syndrome |
|
Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Short phalanx of finger, Short ... |
OMIM:180870 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Talipes equinovarus, Scoliosis, Kyphosis, Upper limb amyotrophy |
OMIM:617087 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... |
OMIM:112500 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Polydipsia, Renal insufficiency, Portal h... |
ORPHA:213 |
| Lamb-Shaffer Syndrome |
|
Low-set ears, Optic atrophy, Clinodactyly, Long hallux, Overlapping toe, Vertebral clefting, Long... |
OMIM:616803 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... |
OMIM:620639 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:2631 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art... |
ORPHA:1856 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Advanced tarsal ossification, Short... |
OMIM:215045 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... |
OMIM:251450 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ... |
OMIM:600384 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Inguinal hernia, Thor... |
OMIM:600325 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgum, Joint hypermobility, ... |
OMIM:619721 |
| Leri Pleonosteosis |
|
Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Abnormal form of the vertebral bodie... |
ORPHA:2900 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi... |
ORPHA:2370 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis |
ORPHA:1883 |
| Pyle Disease |
|
Platyspondyly, Genu valgum, Reduced bone mineral density, Limited elbow extension, Thin bony cort... |
OMIM:265900 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Abnormality of the vertebral column, Short toe, Carpal synostosis, Short tibia, Type A... |
OMIM:112910 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... |
ORPHA:628 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... |
OMIM:612847 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Renal salt wasting, Hyperkalemia, Hypernatriuria, Failure to thrive, Ascites, Abnorm... |
ORPHA:275761 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo... |
ORPHA:3454 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi... |
ORPHA:96183 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Keloids, Tarsal sclerosis, Abnormal pelvis bone ossification,... |
ORPHA:166119 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Kyphosis, Hypoplasia of the odontoid... |
OMIM:607326 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Hypotension, Abnormal circulating cholesterol concentration, Hypernatriuria... |
ORPHA:168558 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Arachnodactyly, Talipes equinovarus, Short neck, Bowing of the long bones, Patel... |
OMIM:121050 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital ptery... |
OMIM:618469 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Hypotension, Abnormal circulating cholesterol concentration, Hypernatriuria... |
ORPHA:289548 |
| Greenberg Dysplasia |
|
Platyspondyly, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodies, Decrease... |
ORPHA:1426 |
| Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid... |
OMIM:301900 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ... |
OMIM:615155 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Reduced bone mine... |
OMIM:619489 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... |
OMIM:309620 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Enamel hypoplasia, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, ... |
OMIM:234250 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Shock, Elevated circul... |
ORPHA:99826 |
| Avascular Necrosis Of Femoral Head, Primary, 2 |
|
Platyspondyly, Avascular necrosis of the capital femoral epiphysis |
OMIM:617383 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... |
ORPHA:50809 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact... |
ORPHA:115 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Joint stiffness |
ORPHA:1144 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Short foot, Tapered finger |
OMIM:309585 |
| Anauxetic Dysplasia 1 |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphys... |
OMIM:607095 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Elbow contracture, Hip contracture, Kyphoscoliosis, Wrist flexion contracture, Ankle contracture,... |
OMIM:620386 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Flexion contractur... |
OMIM:300718 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Cubitus valgus, Short neck... |
OMIM:617396 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... |
ORPHA:166011 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Enlarged interphalangeal j... |
OMIM:615222 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:613550 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Osteopenia, Joint contracture of the hand, Cigarette-paper scars, Broad femoral ne... |
OMIM:612350 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Postaxial foot polydactyly, Polydipsia, Obesity, Renal insufficiency, Pol... |
OMIM:615986 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... |
OMIM:184250 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Trimethylaminuria |
|
Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Camptodactyly, Rocker bottom foot, Arthrogryposis multiplex congeni... |
OMIM:618393 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Ingu... |
OMIM:252600 |
| Arthrogryposis, Distal, Type 5 |
|
Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Decreased palmar cr... |
OMIM:108145 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Tall stature, Increased vertebral height, Arachnodactyly, Camptodactyly of toe, Wide femoral meta... |
OMIM:610474 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| Masa Syndrome |
|
Talipes equinovarus, Adducted thumb, Kyphosis, Hyperlordosis |
OMIM:303350 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint stiffness,... |
ORPHA:1801 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Short ribs, ... |
OMIM:269250 |
| Becker Nevus Syndrome |
|
Micromelia, Abnormal tibia morphology, Upper limb asymmetry, Rib fusion, Supernumerary ribs, Spin... |
ORPHA:64755 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ... |
ORPHA:1858 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
| Chst3-Related Skeletal Dysplasia |
|
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... |
ORPHA:263463 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Large hands, Scoliosis, Kyphosis, Tapered finger |
ORPHA:276630 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes... |
OMIM:609128 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, T... |
ORPHA:79312 |
| Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia... |
ORPHA:1149 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... |
ORPHA:90650 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Osteopenia, Broad femoral neck, Abnormal metaphysis morphology, Flat capital femor... |
ORPHA:157965 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J... |
ORPHA:577 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Hyponatremia, Weight loss, Nocturia, Dehydration |
ORPHA:178029 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Polydipsia, Increased susceptibili... |
ORPHA:18 |
| 49,Xyyyy Syndrome |
|
Short 5th finger, Finger clinodactyly, Bridged palmar crease, Generalized joint hypermobility, Ra... |
ORPHA:99330 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Increased adipose tissue, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Marfanoid Habitus With Situs Inversus |
|
Arachnodactyly, Scoliosis, Kyphosis, Disproportionate tall stature, Hyperextensibility of the fin... |
OMIM:609008 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Abnormal femoral epiphysis morphology, Joint stiffness, Irregular femoral epiphysi... |
OMIM:108300 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Polydipsia, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Stage ... |
OMIM:615994 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Polydipsia, Congestive heart failure, Dysuria, Osteomyelitis, Pleu... |
ORPHA:35687 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... |
OMIM:611717 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Genu valgum, Hematuria, Weight loss, Hypophosphate... |
OMIM:219800 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Cone-shaped epiphysis, Dentinogenesis imperfecta |
ORPHA:71267 |
| Multiple Osteochondromas |
|
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... |
ORPHA:321 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... |
ORPHA:54057 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma... |
OMIM:248250 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Limitation of joint mobility, Finger syndactyly, Camptodactyly of... |
ORPHA:2994 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Failure to thrive, Hypercalcemia, Splenomegaly, Hyperphosphaturia, Hyp... |
OMIM:239200 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Clinodactyly, Single transverse palmar crease, Short neck, Flexion contracture, Scoliosis, Arthro... |
ORPHA:178148 |
| Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Elevated plasma pyrophosphate, Vertebral clefting, Anorexia, Increas... |
OMIM:241500 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Broad thumb, Short 3rd metacar... |
ORPHA:370010 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Cocaine Intoxication |
|
Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Diffus... |
ORPHA:90068 |
| Brachyolmia Type 3 |
|
Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met... |
OMIM:113500 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae |
OMIM:619122 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Ascites, Pathologic fracture, Hepatosplenomegaly, Pancy... |
ORPHA:98850 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... |
OMIM:215150 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Long palm, Missing ribs, Arachnodactyly, Hemivertebrae, Ab... |
ORPHA:2759 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Craniosynostosis, Humeroradial synostosis, Arachnodactyly |
OMIM:614416 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Talipes equinovarus, Hyperlordosis, Scapular winging, ... |
OMIM:615290 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... |
OMIM:151200 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit... |
OMIM:614078 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Slender finger, Small hand, Sandal gap, Broad hallux, Overlapping toe, Clinodactyly of the 5th fi... |
OMIM:617755 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Recurrent fractu... |
OMIM:259420 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor... |
OMIM:619638 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Mesomelia, Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Fin... |
ORPHA:2633 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Failure to thrive, Pa... |
OMIM:606054 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency, Hyperammonemia, Anemia, Dehydration |
ORPHA:28 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... |
OMIM:601356 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Vertebral wedging, Bowing of the arm, Biconcav... |
OMIM:301014 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Arthrogryposis multiplex congenita, Kyphoscoliosis, Talipes equinovarus, Flexion contracture of f... |
OMIM:618484 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... |
OMIM:610915 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small epiphyses, Fem... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi... |
OMIM:619040 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Deviation of finger, Joint stiffness, Arachnodactyly, Congenital finger flexion contractures, Bil... |
ORPHA:1154 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Dentinogenesis imperfecta, Slender long bone, Bowing of the l... |
OMIM:619795 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Anisospondyly, Slender finger, Hemiatrophy of upper limb, Delayed patellar ossific... |
ORPHA:163649 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino... |
ORPHA:496689 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Kyphoscoliosis, Arachnodactyly, Long toe, Lipodystroph... |
ORPHA:75496 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis |
ORPHA:505652 |
| Poems Syndrome |
|
Polycythemia, Sclerosis of hand bone, Ascites, Sclerosis of foot bone, Metaphyseal sclerosis, Scl... |
ORPHA:2905 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Syndactyly, Clinodactyly, Thoracic kyphosis |
OMIM:619092 |
| Hyperekplexia 4 |
|
Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Ad... |
OMIM:618011 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... |
OMIM:256050 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Polyuria, E... |
OMIM:620152 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Phalangeal dislocation, Scoliosis, Omphalocele |
ORPHA:85174 |
| Juberg-Hayward Syndrome |
|
Limited elbow extension, Aplasia/Hypoplasia of the thumb, Abnormality of the radial head, Abnorma... |
OMIM:216100 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:122600 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Brachydactyly, Scoliosis, Dispropor... |
ORPHA:776 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Hearing impairment, Distal upper limb amyotrophy, Scoliosis, ... |
ORPHA:101075 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... |
OMIM:228900 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, Camptodactyly o... |
OMIM:186300 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation |
ORPHA:171719 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Cervical spinal canal stenosis, Shor... |
ORPHA:15 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Re... |
OMIM:614856 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Osteolysis, Joint stiffness, Inguinal... |
ORPHA:137834 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria |
OMIM:618314 |
| Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... |
ORPHA:64754 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Joint dislocation, Abnormal epiphysis morphology, Spinal canal stenosis, Abnormal ... |
ORPHA:582 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Tall stature, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Shock, Hypogona... |
ORPHA:90794 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... |
ORPHA:99885 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Distal Duplication 18Q |
|
Progressive intervertebral space narrowing, Deviation of finger, Camptodactyly of finger, Bilater... |
ORPHA:1716 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Tall stature, Joint stiffness, Arachnodactyly, Short neck |
ORPHA:1707 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Kyphosis |
OMIM:616756 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Abnormal epiphysis morphology, Osteoarthritis |
ORPHA:93283 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
| Scholte Syndrome |
|
Small hand, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Short foot,... |
OMIM:300977 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Kyphoscoliosis, Atlantoaxial ... |
ORPHA:3433 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... |
OMIM:259600 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis |
OMIM:184840 |
| Myopathic Ehlers-Danlos Syndrome |
|
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio... |
ORPHA:536516 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot |
OMIM:300577 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypop... |
OMIM:619598 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Hip dislocation, Hand clenching, Arthrogryposis multiplex congenita, ... |
OMIM:618291 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o... |
ORPHA:93316 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp... |
OMIM:271600 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Arthrogryposis multiplex congenita, Camptodactyly of finger, Ulnar de... |
OMIM:114300 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Osteopenia, Generalized lipodystrophy, Genu valgum, Cong... |
OMIM:608154 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Tarsal-Carpal Coalition Syndrome |
|
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... |
OMIM:186570 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno... |
OMIM:615349 |
| Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... |
ORPHA:2319 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Acute kidney injury, Neuromuscular dysphagia, Angioede... |
ORPHA:449285 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Toe syndactyly, Failure to thrive, Cone-shaped epiphyses of the distal phalanges o... |
OMIM:618958 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Oligohydramnios, Elevated ... |
OMIM:616000 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Short fourth meta... |
OMIM:616723 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger |
OMIM:302000 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Rocker bottom foot, Single transverse palmar crease, Talipes equinovarus, Short n... |
OMIM:611890 |
| Ruvalcaba Syndrome |
|
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... |
ORPHA:3121 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Recurrent fractures, Ab... |
ORPHA:2050 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Madelung deformity, Lumbar scoliosis, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th fi... |
ORPHA:319675 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr... |
ORPHA:2078 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Cuboid-shaped vertebral bodies, Tali... |
ORPHA:1326 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation |
OMIM:614100 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Sinus tachycardia, Failure to thrive, Congestive heart failure, Palpitations, Oligohy... |
ORPHA:525731 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Tubular l... |
ORPHA:84081 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Missing ribs, R... |
OMIM:271520 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly |
OMIM:300337 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint subluxation, Kyphosis, Atrophic scars, Joint hypermobility, Wormian bones, Talipes equinova... |
OMIM:617821 |
| Czech Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In... |
OMIM:609162 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint hypermobility, Arachnodactyly, Talipes equinovarus, Abdominal obesity, Camptodactyly, Scoli... |
OMIM:301039 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi... |
ORPHA:2916 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Cache... |
ORPHA:3452 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Unilateral oligodactyly, Hemivertebrae, Unilateral brachydactyly, S... |
OMIM:173800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific... |
OMIM:105835 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Failure to thrive, Dehydration, Elbow flexion contracture, Knee fl... |
OMIM:214150 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Short palm, Coxa vara |
ORPHA:168555 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Radioulnar synostosis, Hypoplas... |
OMIM:263750 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Hyperlordosis,... |
OMIM:300831 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Micromelia, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly |
ORPHA:1035 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Type 1 Diabetes Mellitus |
|
Polyuria |
OMIM:222100 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... |
ORPHA:2831 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:241200 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r... |
ORPHA:94068 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... |
OMIM:615777 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bow... |
OMIM:108721 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... |
ORPHA:79159 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Atrophic scars, Kyphoscoliosis, Hernia, Elevated circulating creatine kinase concentr... |
ORPHA:300179 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Short hallux, Long fingers, Clinodactyly of the 5th finger |
OMIM:620393 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost... |
OMIM:184095 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... |
OMIM:184100 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Talipes equinovarus, Multiple lipomas, Lipodystrophy, Kyphosis |
OMIM:151800 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... |
ORPHA:1147 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... |
OMIM:174000 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Obesity, Syndactyly, Tapered finger |
OMIM:618725 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... |
OMIM:271510 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Irregular femoral epiphysis, Genu valgum, Vertebral wedging, Kyphoscoliosis |
OMIM:255710 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Scoliosis, Congenital diaphragmatic hernia, Hemivertebrae |
ORPHA:370079 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equino... |
OMIM:253010 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... |
OMIM:156550 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Toe syndactyly, Broad thumb, Overlapping toe, Arachnodactyly, Talipes equinovarus, Short neck, Ta... |
ORPHA:505237 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Rickets, Failure to thrive, Polyuria, Osteoporosis, Dehydration |
OMIM:560000 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle... |
ORPHA:439822 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... |
OMIM:610968 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca... |
OMIM:602722 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Acute kidney injury, Abnormality of the urinary system, Increased total b... |
ORPHA:91547 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Metaphyseal irregularity, Fibular overgrowth, Sho... |
OMIM:602557 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... |
OMIM:178110 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... |
OMIM:607364 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Arachnodactyly, Scoliosis |
OMIM:301006 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Obesity, Kyphosis |
ORPHA:261222 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Joint hypermobility, Amelogenesis imperfecta, Diaphyseal dy... |
OMIM:614727 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Hypoplasia of the capital femoral ep... |
OMIM:617425 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid... |
OMIM:619377 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Anterior beaking of lumbar vertebrae, S... |
OMIM:230650 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ... |
ORPHA:2616 |
| Gitelman Syndrome |
|
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia,... |
OMIM:263800 |
| Ollier Disease |
|
Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnorma... |
ORPHA:296 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Rhizomelia, Flared metaphysis, Epiphyseal stippling, Calcific stippling of infantile cartilaginou... |
OMIM:215100 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Obesity, Short neck,... |
ORPHA:2234 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Thrombocytope... |
ORPHA:27 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Genu valgum, Joint hypermobility, Broad palm, Scoliosis, Kyphosis, Short palm, T... |
OMIM:300602 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Failure to thri... |
OMIM:208085 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Clinodactyly of the 5th finger, Scoliosis, Toe clinodactyly |
OMIM:619910 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecularization, O... |
ORPHA:93160 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hypermobility |
ORPHA:1875 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh... |
OMIM:614613 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... |
OMIM:300653 |
| Carpenter Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Limitation of joint mobility, Tall stature, Biconcave vertebral bodies,... |
OMIM:236200 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Narrow palm, Fused thoracic vertebrae, Scoliosi... |
ORPHA:1445 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Short finger, Avascular ne... |
OMIM:190351 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Fibular bowing, Hypophosphatemia, Abnor... |
OMIM:241530 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Kyphosis, Lipoatrophy, Sh... |
ORPHA:2617 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Bea... |
OMIM:618961 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the middle phalanges of the hand, Distal... |
OMIM:606895 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Arachnodactyly, Scoliosis |
ORPHA:171844 |
| Fryns-Smeets-Thiry Syndrome |
|
Patellar aplasia, Arachnodactyly, Scoliosis, Hip dislocation, Disproportionate tall stature |
ORPHA:2058 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... |
ORPHA:85172 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia, Joint hypermobility |
ORPHA:319199 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... |
OMIM:150250 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capital fe... |
OMIM:252605 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:601678 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Wide humerus, Metap... |
ORPHA:319195 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hemivertebrae, Hypoplasia of the u... |
OMIM:212780 |
| 16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Craniosynostosis, Hand polydactyly, Joint hypermobility |
ORPHA:261243 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis |
ORPHA:85193 |
| Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils, Dehydration |
ORPHA:33355 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Pulmonary edema, Hematuria, Glo... |
ORPHA:340 |
| Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ... |
ORPHA:392 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Tapered finger |
ORPHA:85274 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr... |
ORPHA:93307 |
| Acromegaloid Facial Appearance Syndrome |
|
Short 5th metacarpal, Large for gestational age, Joint hypermobility, Large hands, Tapered finger |
OMIM:102150 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Hernia, Arachnodactyly, Short neck, Talipe... |
ORPHA:562528 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple |
OMIM:618845 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Abnormal rib morpho... |
ORPHA:3082 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Methylmalonic aciduria, Dicarboxylic aciduria, Dicarboxylic acidemia, Dehydrat... |
ORPHA:289504 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Arachnodactyly, Tall stature, Scoliosis, Joint hypermobility |
OMIM:129600 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Leukocytosis, Pleural effusion, Renal insufficiency, Pulmonary edema, Arrh... |
ORPHA:188 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| 2Q32Q33 Microdeletion Syndrome |
|
Toe clinodactyly, Broad thumb, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Clinodac... |
ORPHA:251019 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Incr... |
OMIM:203400 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Ketonuria, Dehydration, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Oral ... |
ORPHA:134 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Scoliosis, Kyphosis, F... |
ORPHA:48431 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... |
OMIM:300009 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Sh... |
OMIM:620662 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Umbilical hern... |
ORPHA:2311 |
| Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Sandal gap, Arachnodactyly, Talipes equinovarus, Hip dysplasia, Camptodactyly, Flexion contractur... |
OMIM:617146 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Disproportionate tall stature |
OMIM:616166 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Osteopenia, Tall lumbar vertebral bodies, Umbilical hernia, Pathologic fract... |
OMIM:102500 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Hernia, Short neck, Abnormal meta... |
ORPHA:583 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr... |
OMIM:166220 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ... |
OMIM:143095 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Leukopenia, Stage 5 chronic kidney dis... |
OMIM:251000 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Obesity, Brachydactyly, Hemivertebrae, Scoliosis |
ORPHA:2180 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Low-set ears, Posteriorly rotated ears, Clinodactyly, 2-3 toe syndactyly |
OMIM:619311 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Rhizomelia, Abnormal ... |
ORPHA:85167 |
| Richieri Costa-Da Silva Syndrome |
|
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... |
ORPHA:3101 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Finger... |
ORPHA:3250 |
| Chronic Hiccup |
|
Weight loss, Abnormal eating behavior, Dehydration |
ORPHA:396 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Decreased skull oss... |
ORPHA:93267 |
| Whistling Face Syndrome, Recessive Form |
|
Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Inguinal hern... |
OMIM:277720 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:411629 |
| Joint Laxity, Short Stature, And Myopia |
|
Multiple joint dislocation, Cervical kyphosis, Umbilical hernia, Inguinal hernia, Kyphoscoliosis,... |
OMIM:617662 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Ck Syndrome |
|
Slender build, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis, Long toe, Long fingers |
ORPHA:251383 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bowing of the arm, Joint hypermobility, Coxa vara, Osteoporosis, Scoliosis, Recurr... |
OMIM:619131 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm |
ORPHA:3238 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Inguinal hernia, Knee flexi... |
OMIM:609220 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypertension, Polyuria |
OMIM:613677 |
| Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Shox-Related Short Stature |
|
Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubitus valgus, Sh... |
ORPHA:314795 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Short neck, Broad phalanx, Bilate... |
ORPHA:56304 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Harderoporphyria |
|
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Increased urine hard... |
OMIM:618892 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Short n... |
OMIM:271640 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Short thumb, Overlapping toe, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Wrist flexion... |
ORPHA:436003 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Kyphosis, Finger syndactyly, Abnormal dental enamel morphology, Short... |
ORPHA:1005 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve... |
OMIM:613982 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Slender finger, Short neck, Truncal obesity |
OMIM:613192 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Camptodactyly o... |
ORPHA:2215 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph... |
OMIM:615761 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Nephrolithiasis, Pol... |
OMIM:617994 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Tall stature, Bone pain, Jo... |
ORPHA:2062 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus,... |
OMIM:265000 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Elevated urin... |
OMIM:243500 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria, Hypernatremia |
OMIM:125800 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Short ... |
OMIM:224400 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... |
OMIM:300554 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria, Hypernatremia |
OMIM:304800 |
| Stickler Syndrome, Type Iv |
|
Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora... |
OMIM:614134 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Talipes equinovarus, Split hand, Kyphoscoliosis |
OMIM:607831 |
| Harrod Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal shoulder morphology, Arachnodactyly, Scoliosis, ... |
ORPHA:2115 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Split hand, Scoliosis, Kyphosis |
OMIM:618124 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Ascites, Hyperbilirubinemia, Renal insufficiency, Hypera... |
ORPHA:1667 |
| Becker Nevus Syndrome |
|
Scoliosis, Hemivertebrae |
OMIM:604919 |
| Hellp Syndrome |
|
Generalized edema, Hypotension, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic... |
ORPHA:244242 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Failure to thrive, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hype... |
ORPHA:556030 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Congenital contracture, Inguinal hernia, Arachnodactyly, Talipes e... |
OMIM:248700 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Inguinal hernia, Bowing of the long bones, Short... |
ORPHA:61 |
| Polycythemia Vera |
|
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... |
ORPHA:729 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Limited hi... |
OMIM:183900 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Short neck, Abnormal fe... |
OMIM:255800 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Tall stature, Transient ischemic attack, Ischemic stroke, Arachnodactyly, S... |
ORPHA:91387 |
| Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Abnormal met... |
ORPHA:166272 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... |
ORPHA:567548 |
| Galloway-Mowat Syndrome 7 |
|
Clinodactyly, Partial duplication of thumb phalanx, Single transverse palmar crease, Kyphoscolios... |
OMIM:618348 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolysis, Bilateral e... |
OMIM:166300 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Thin ribs, Thin metatarsal cortices, Small hypothenar eminence, Thin metaca... |
ORPHA:2463 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Atrophic scars, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Adducted thumb, Camptodacty... |
OMIM:615539 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Elbow flexion contracture, Tapered distal phalanges of finger, Knee flexion contractu... |
ORPHA:371364 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav... |
OMIM:612780 |
| Keipert Syndrome |
|
Low-set ears, Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Sensorineu... |
OMIM:301026 |
| East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... |
ORPHA:199343 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear... |
OMIM:212140 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental e... |
ORPHA:1782 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Kyphosis, Bilateral single transverse palmar creases, Prominent metopic ridge |
ORPHA:85317 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Dehyd... |
OMIM:610600 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Abnormal posturing, Methylmalonic aciduria, Failure to thrive, Elevated circulati... |
OMIM:614857 |
| Gitelman Syndrome |
|
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Renal potassium was... |
ORPHA:358 |
| Parana Hard Skin Syndrome |
|
Restricted chest movement, Tapered finger |
ORPHA:2812 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Arachnodactyly, Slender build, Scoliosis |
OMIM:617600 |
| Kleine-Levin Syndrome |
|
Polydipsia, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive com... |
ORPHA:33543 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, T... |
ORPHA:536467 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Dislocation of the femoral head, Delayed closure of the anterior font... |
OMIM:619797 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:1486 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Hearing impairment, Clinodactyly |
ORPHA:500166 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Decreased circulating renin... |
ORPHA:320 |
| Mycetoma |
|
Abnormal form of the vertebral bodies, Painless fractures due to injury, Pathologic fracture, Ost... |
ORPHA:2583 |
| Autosomal Recessive Stickler Syndrome |
|
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Joint hypermobil... |
ORPHA:250984 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Scoliosis, Joint hypermobility |
OMIM:619013 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Short toe, Hyperlordosis, Brachydactyly, Kyphosis |
ORPHA:3085 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Arac... |
OMIM:616914 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Short neck, Broad phalanx, Anterior rib cup... |
OMIM:271665 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal form of the vertebral bodies, Carpal osteolysis, Pterygium, Abnormal hand mo... |
ORPHA:371428 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulatin... |
OMIM:251110 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Short femoral neck, Proximal femoral metaphyseal irregularity, Narrow greater scia... |
OMIM:602271 |
| Crisponi Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Scoliosis, Kyphosis |
ORPHA:1545 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Clinodactyly, Macrotia |
OMIM:300928 |
| Dent Disease |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Renal hypophosp... |
ORPHA:1652 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bow... |
OMIM:617952 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Camptodactyly of finger, Elbow flexion contracture... |
ORPHA:1692 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis |
ORPHA:2983 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... |
OMIM:314050 |
| Myopathy, Centronuclear, 2 |
|
Talipes equinovarus, Hyperlordosis, Scapular winging, Flexion contracture, Scoliosis, Kyphosis |
OMIM:255200 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Elbow dislocation, Arachnodactyly, Ventral hernia, Hip dislocation, Radioulnar disloc... |
ORPHA:536532 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Umbili... |
ORPHA:352490 |
| Cantu Syndrome |
|
Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Large fo... |
OMIM:239850 |
| 3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Disproportionate tall stature, Kyphoscoliosis |
ORPHA:397695 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Inguinal hernia, Decreased palmar creases, Clinodactyly of the 5th finger, Scol... |
OMIM:615834 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... |
ORPHA:64739 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Abnormal for... |
ORPHA:3258 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Arrhythmia, Myoglobinuria, Urinary incontinence, Tachycardia, Hyperkalemia, Dy... |
ORPHA:94093 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Failure to thrive, Abnormality of the kidney, Small for gestat... |
ORPHA:99886 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Polyphagia, Attention d... |
ORPHA:369873 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... |
OMIM:135100 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Joint hypermobility |
OMIM:614898 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Lopes-Maciel-Rodan Syndrome |
|
Small hand, Ankle clonus, Short foot, Scoliosis, Kyphosis |
OMIM:617435 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Fetal ascites, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal m... |
ORPHA:292 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| 3Q29 Microdeletion Syndrome |
|
Joint hypermobility, Clinodactyly of the 5th finger, Six lumbar vertebrae, Tapered finger |
ORPHA:65286 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Cubitus valgus, Short metatarsal, Flexion contracture, Scoliosis, Short metacarpal, Cox... |
OMIM:248800 |
| Stickler Syndrome, Type Ii |
|
Joint hypermobility, Arachnodactyly, Long fingers, Arthropathy |
OMIM:604841 |
| Familial Cold Urticaria |
|
Polydipsia, Arthritis, Dehydration |
ORPHA:47045 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Persistent open anterior fontanelle, Massively thicken... |
ORPHA:1798 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis |
OMIM:618237 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bone, Abnormal vertebral... |
ORPHA:66637 |
| Alpha-Methylacetoacetic Aciduria |
|
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration |
OMIM:203750 |
| Baralle-Macken Syndrome |
|
Kyphosis, Tapered finger |
OMIM:619255 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Decreased body mass index, Disproportionate tall stature, Increased nuchal transluce... |
OMIM:615668 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration |
OMIM:264350 |
| Schaaf-Yang Syndrome |
|
Small hand, Rocker bottom foot, Clinodactyly, Narrow palm, Short foot, Brachydactyly, Camptodacty... |
OMIM:615547 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnor... |
ORPHA:2655 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ... |
OMIM:602522 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti... |
ORPHA:99147 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly |
ORPHA:2824 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Coffin-Siris Syndrome 5 |
|
Arachnodactyly, Short distal phalanx of finger, Sandal gap |
OMIM:616938 |
| Verheij Syndrome |
|
Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... |
OMIM:615583 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Arima Syndrome |
|
Postaxial foot polydactyly, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal s... |
OMIM:243910 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Abnormal form of the vertebral bodies, Inguinal hernia, Brachydactyly, Abnormal bone ... |
ORPHA:2645 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Tachycardia, Methylmalonic acidemia, Homo... |
OMIM:277400 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Short n... |
ORPHA:485 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco... |
OMIM:616507 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Abnormal rib morphology, Rib fusio... |
ORPHA:377 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
C1-C2 vertebral abnormality, Thin ribs, Joint contracture of the hand, Umbilical hernia, Dislocat... |
OMIM:182212 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ... |
ORPHA:1860 |
| Panhypophysitis |
|
Polydipsia, Decreased male libido, Decreased female libido, Hyponatremia, Amenorrhea, Hyposthenur... |
ORPHA:95513 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Dentinogenesis imperfecta, ... |
OMIM:616294 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Elbow flexion co... |
OMIM:610758 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Dehydration, Anorexia,... |
ORPHA:20 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Joint contracture of the hand, Limited elbow movement, Dislocation of... |
OMIM:300280 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, Hyperlordosis, Scapular w... |
OMIM:181405 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased urinary potassium, Anemia, Hypertension, Reduced circulating ... |
OMIM:611489 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Hypotension, Generalized edema, Oliguria, Shock, Lymphopenia, Le... |
ORPHA:319213 |
| Tetrasomy 15Q26 |
|
Camptodactyly, Arachnodactyly, Kyphoscoliosis |
OMIM:614846 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Kyphoscoliosis, Talipes equinovarus, Split hand, Hammertoe |
OMIM:604563 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Knee flexion contracture,... |
OMIM:613776 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Genu valgum, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor st... |
ORPHA:534 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Inguinal hernia, Bilateral single transverse palmar creases, Short ne... |
ORPHA:3191 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypotension, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Osteoporosis of ... |
ORPHA:95619 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Bowing of th... |
ORPHA:1225 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Ar... |
OMIM:600920 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ... |
OMIM:235400 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonem... |
OMIM:251100 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... |
OMIM:166600 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Polydipsia, Hypokalemia, Hypercalciuria, Prolonged QT interval, Intracranial hemorrhag... |
ORPHA:251274 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Proximal muscle weakness in upper limbs, Kyphosis |
OMIM:618138 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, Thoracic kyphosc... |
ORPHA:313892 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Hyperlordosis, Brachydact... |
ORPHA:710 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Proximal femoral epiphysiolysis, Failure to thrive, Persistence of hemoglobin F... |
OMIM:260400 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bulging of the co... |
OMIM:600081 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Ricket... |
OMIM:264700 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Hemivertebrae, Vertebral segmentation defect |
OMIM:617661 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... |
ORPHA:3337 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Incr... |
ORPHA:98849 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... |
OMIM:264180 |
| Sepsis In Premature Infants |
|
Hypotension, Oliguria, Leukocytosis, Splenomegaly, Bradycardia, Reversible renal failure, Decreas... |
ORPHA:90051 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... |
OMIM:242900 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... |
OMIM:600373 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... |
ORPHA:85184 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618147 |
| Addison Disease |
|
Normocytic anemia, Hypotension, Failure to thrive, Decreased female libido, Thiamine-responsive m... |
ORPHA:85138 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, I... |
ORPHA:3218 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Clinodactyly, Dorsocervical fat pad, Kyphoscoliosis, Down-sloping shoulders, Shor... |
ORPHA:391408 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Hypertension, Failure to thrive, Dehydration |
OMIM:616069 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Abnorma... |
ORPHA:85438 |
| Joubert Syndrome 18 |
|
Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Talipes equinovarus, Postaxial polydact... |
OMIM:614815 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:300971 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ... |
ORPHA:289157 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Obesity, Genu valgum, Abnormal hip bone morphology, Narrow palm, A... |
ORPHA:193 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Abnormal renal physiology, Transient ischemic attack, Reticulo... |
OMIM:274150 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperkalemia, Hyperphosphatemia, Elevated creatine kin... |
ORPHA:423 |
| Distal Symphalangism |
|
Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C... |
ORPHA:3248 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Decreased skull ossification, Short neck, Multiple prenatal fractures... |
OMIM:616897 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, H... |
OMIM:300863 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Kyphosis, Fused... |
ORPHA:2522 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad thumb, Broad hallux, Wrist hypermobility, Joint hypermobility, Arachnodactyly, Thoracic kyp... |
ORPHA:481152 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, 2-3 toe syndactyly, Hyperlordosis, Scoliosis, Posteriorly rotated ears |
OMIM:617352 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Persistent open anterior fontanelle, Finger clinodactyly, Single tra... |
ORPHA:2332 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormal diaphysis morphology, Abnormality of the wrist, Abnormal metaphysis morphology, Abnormal... |
ORPHA:1657 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Bowing of the long bones, Dislocated ... |
OMIM:130070 |
| Wolfram Syndrome |
|
Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male hypogonadism, P... |
ORPHA:3463 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Hearing impairment, Clinodactyly, Syndactyly |
OMIM:610023 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hypotension, Septic arthritis, Edema, Recurrent urinary tract infections, Shock,... |
ORPHA:36234 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini... |
ORPHA:230 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracolumbar kyphosis, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Disc-like vertebral... |
OMIM:151210 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... |
OMIM:613686 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu... |
ORPHA:420794 |
| Non-Distal Duplication 13Q |
|
Hernia, Arachnodactyly, Postaxial hand polydactyly |
ORPHA:1702 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Polydipsia, Nephrolithiasis, Hypokalemia, Pulmon... |
ORPHA:369929 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypotension, Failure to thrive, Macrocytic anemia, Hyperuricemia, Hyponatremia... |
ORPHA:199299 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Congestive he... |
OMIM:166210 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Spinal rigidity, Hip dislocation, Wrist hypermobility, Increased laxity of fingers, Joint hypermo... |
OMIM:254090 |
| Familial Renal Glucosuria |
|
Nephropathy, Glycosuria, Recurrent urinary tract infections, Renal tubular dysfunction, Dehydration |
ORPHA:69076 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... |
ORPHA:77258 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
| Acro-Renal-Mandibular Syndrome |
|
Hip dislocation, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to abse... |
ORPHA:958 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Tall stature, Joint hypermobility, Generalized joint hypermobility, Arachnodac... |
OMIM:130080 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Scoliosis, Clinodactyly, Macrotia |
OMIM:300934 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Protein... |
ORPHA:85445 |
| Chromosome 3Q29 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Long fingers, Tapered finger |
OMIM:609425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Isothenuria... |
OMIM:611590 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Scoliosis, Kyphosis, Single transverse palmar crease |
OMIM:300861 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Increased sus... |
OMIM:231070 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hyperlordosis, Polya... |
ORPHA:2848 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Hurler-Scheie Syndrome |
|
Abnormal vertebral morphology, Limitation of joint mobility, Spinal canal stenosis, Hernia |
ORPHA:93476 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abno... |
ORPHA:93274 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia |
OMIM:619170 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce... |
ORPHA:713 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finge... |
OMIM:618853 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... |
ORPHA:846 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... |
ORPHA:75508 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:30925 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Failure to thrive, Anorexia, Sideroblastic anemia, Pancytopenia, Hyper... |
OMIM:557000 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Multiple prenatal fractures, Flexion cont... |
OMIM:271225 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Failure to thrive, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hype... |
ORPHA:556037 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteom... |
ORPHA:324964 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Scolio... |
ORPHA:88630 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Osteoporosis, Flexion contracture, Kyphosis |
ORPHA:87876 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Abnormality of the urethra, Polydipsia, Dysuria, Renal insufficiency... |
ORPHA:537 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Delayed skeletal maturation, Arachnodactyly, Osteoporosis of vertebrae, Reduced bone ... |
ORPHA:243 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Terminal Osseous Dysplasia |
|
Low-set ears, Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s... |
OMIM:300244 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Scoliosis, Clinodactyly, Syndactyly |
OMIM:619091 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Limb joint contracture, Ulnar deviation of the hand, Reduced subcutaneous adipose tissue, Kyphosc... |
OMIM:612079 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Shoulder girdle muscle weakness, Hyperlordosis, Achilles tendon contracture, V... |
OMIM:606612 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Hyperammonemi... |
OMIM:620300 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b... |
ORPHA:2496 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, Hearing impairment, Clinodactyly, Short middle phalanx of the 2nd finger, Partial d... |
OMIM:617926 |
| Shigellosis |
|
Hypovolemic shock, Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Failure to... |
ORPHA:810 |
| 4Q21 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Micromelia, Short neck, Short foot, Scoliosis, Kyphosis, Short palm |
ORPHA:238750 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Abnormal hand morphology, Generalized joint hypermobility, Arachnodactyly, Limited elbow movement... |
ORPHA:319171 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... |
ORPHA:95699 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Rhizomelia, Decreased calvarial ossification, Bowing of the long bones... |
OMIM:616229 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu... |
ORPHA:3130 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Down Syndrome |
|
Atlantoaxial dislocation, Polycythemia, Sandal gap, Obesity, Decreased fertility, Acute megakaryo... |
ORPHA:870 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
ORPHA:90038 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Legionnaires Disease |
|
Hypotension, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Arrhythmia, ... |
ORPHA:549 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Decrease... |
OMIM:215140 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Joint hype... |
ORPHA:90653 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis |
ORPHA:163596 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Polydipsia, Palpitations, Increased urinary potassium, Decreased circulating renin lev... |
ORPHA:231580 |
| Braddock Syndrome |
|
Short neck, Scoliosis, Hemivertebrae, Preaxial hand polydactyly |
ORPHA:52047 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short 5th finger, Slender finger, Small hand, Obesity, Genu valgum, Thoracolumbar scoliosis, Hype... |
OMIM:618443 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Hyporeflexia of upper limbs, Tall stature, Claw hand deformity, Joint hypermobility, Areflexia of... |
OMIM:620528 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Metaphyseal widenin... |
OMIM:614524 |
| Bainbridge-Ropers Syndrome |
|
Arachnodactyly, Scoliosis, Disproportionate tall stature |
ORPHA:352577 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Sandal gap, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly, Clinodactyly of the 5... |
OMIM:617602 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club hand |
OMIM:276950 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Abnormal epiphysis morphology, Carpal osteolysis, Wrist swelling, Camptodactyly of finger, Metaca... |
ORPHA:2774 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Joint hypermobility, Arachnodactyly, Hyperlordosis, Scoliosis |
OMIM:300986 |
| Distal Triplication 15Q |
|
Birth length greater than 97th percentile, Large for gestational age, Arachnodactyly, Camptodacty... |
ORPHA:314588 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the thumb, ... |
ORPHA:2911 |
| Muenke Syndrome |
|
Broad thumb, Hearing impairment, Clinodactyly, Short middle phalanx of toe, Recurrent otitis medi... |
OMIM:602849 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephro... |
ORPHA:143 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| 15Q24 Microdeletion Syndrome |
|
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Abnormal thumb morphology, Joint hyper... |
ORPHA:94065 |
| Brittle Cornea Syndrome |
|
Abnormal epiphysis morphology, Corneal scarring, Hernia, Arachnodactyly, Hallux valgus, Hip dyspl... |
ORPHA:90354 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly |
ORPHA:93946 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Short nec... |
ORPHA:1830 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Failure to thrive, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine c... |
OMIM:251120 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Oliguria, Xerostomia, Congestive heart failure, Renal insufficiency, Telangi... |
ORPHA:220393 |
| Arthrogryposis, Distal, Type 12 |
|
Spinal rigidity, Ankle flexion contracture, Palmar hyperhidrosis, Tapered distal phalanges of fin... |
OMIM:620545 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Cubitus valgus, Bilateral single transverse palmar creases, Truncal obesity, Tapered finger |
ORPHA:85280 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
| Achard Syndrome |
|
Arachnodactyly, Joint hypermobility |
OMIM:100700 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Scoliosis, Kyphosis |
ORPHA:816 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... |
OMIM:207410 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Acute kidney injury, Reduced left ventricular ejection fraction, Elevated circulatin... |
ORPHA:542323 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Split hand, Vertebral segmentation defect |
ORPHA:3004 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Sacral dimple, Inguinal hernia, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Delayed ossification ... |
OMIM:620099 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Femoral retroversion, Scoliosis, Kyphosis |
ORPHA:79107 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... |
ORPHA:3429 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Congestive heart failure, Leukopenia, 3-Methylglutaconic aciduria, Thrombocytopenia, ... |
OMIM:616271 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ... |
OMIM:619557 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Ap... |
ORPHA:3320 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, Joint hyperm... |
OMIM:612813 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Hearing impairment, Finger syndactyly, Clinodactyly, Short neck, Overfolded helix |
ORPHA:251046 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Dengue Fever |
|
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Ascites, Leukopenia, Thrombocytopenia, Cereb... |
ORPHA:99828 |
| Typical Nemaline Myopathy |
|
Kyphosis, Arthrogryposis multiplex congenita, Genu valgum, Short neck, Hyperlordosis, Genu varum,... |
ORPHA:171436 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis |
ORPHA:96190 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Scoliosis, Kyphosis |
ORPHA:99014 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Mul... |
ORPHA:892 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Shock, Leukopenia, Leukocytosis, Pleural effusion, Addictive alcohol use, Neutrophil... |
ORPHA:36238 |
| Koolen-De Vries Syndrome |
|
Hip dislocation, Abnormal dental enamel morphology, Vertebral segmentation defect, Arachnodactyly... |
ORPHA:96169 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hypertrophic ... |
ORPHA:361 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... |
ORPHA:2307 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Broad thumb, Umbilical hernia, Inguinal hernia, Single transverse palmar crease, ... |
ORPHA:329224 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... |
OMIM:601216 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar... |
ORPHA:915 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Shoulder girdle muscle weakness, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Sc... |
OMIM:607155 |
| Shprintzen-Goldberg Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Umbilical hernia, Camptodactyly of fing... |
ORPHA:2462 |
| Cog7-Cdg |
|
Abnormal finger morphology, Short neck, Adducted thumb, Long fingers |
ORPHA:79333 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Arthrogryposis multiplex congenita, Congenital foot contractures, Talipes equinovarus, ... |
OMIM:314580 |
| Loeys-Dietz Syndrome 5 |
|
Bilateral coxa valga, Cervical spine instability, Inguinal hernia, Reduced subcutaneous adipose t... |
OMIM:615582 |
| Wilson-Turner Syndrome |
|
Small hand, Short foot, Truncal obesity, Tapered finger |
ORPHA:3459 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Hand clenching, Clubbing of toes, Elbow dislocation, Knee dislocation, Talipes valgus... |
OMIM:620083 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Joint stiffness, Proximal upp... |
ORPHA:98855 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... |
ORPHA:79404 |
| Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Birth length greater than 97th percentile, Flexion contracture, Slender toe |
OMIM:310400 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Failure to thrive in infancy, Osteomyelitis, Hyponatremia, Arrhythmia, Weight ... |
ORPHA:171876 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Radial head subluxatio... |
OMIM:186400 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Short neck, Abnormal metacarpal mor... |
ORPHA:251014 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Slender finger, Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proxi... |
ORPHA:2872 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Hematochezia, Edema, Weight loss, Abnormal circulating protein concentration, Ab... |
ORPHA:103910 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Meningococcal Meningitis |
|
Hypotension, Shock, Stiff neck, Renal insufficiency, Anorexia, Elevated circulating C-reactive pr... |
ORPHA:33475 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Short neck, Brachydactyly, Clinodactyly of the 5th fi... |
ORPHA:236 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha... |
OMIM:184460 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Congenital diaphragmatic hern... |
ORPHA:261344 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Ankle flexion contracture, Cervical spinal canal stenosis, Knee flexion contracture, Hip contract... |
OMIM:620232 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Femoral bowi... |
ORPHA:140 |
| Harlequin Ichthyosis |
|
Self-injurious behavior, Limitation of joint mobility, Hand polydactyly, Foot polydactyly, Sudden... |
ORPHA:457 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Kyphoscoliosis, Arachnodactyly, Metatarsus adductus, Camptodactyly... |
OMIM:612513 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Micromelia, Trapezoidal vertebral body, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:600092 |
| Livedoid Vasculopathy |
|
Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Ischemic stroke, Leukocytos... |
ORPHA:542643 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Micromelia, Progressive for... |
OMIM:600383 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... |
OMIM:193700 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Polycythemia, Failure to thrive, Ascites, Hyper... |
OMIM:606812 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Scoliosis, Kyphosis, Ankle clonus |
OMIM:609541 |
| Opsismodysplasia |
|
Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas... |
ORPHA:2746 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... |
OMIM:600002 |
| Opsismodysplasia |
|
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Posterio... |
OMIM:258480 |
| Edinburgh Malformation Syndrome |
|
Slender finger, Ulnar deviation of finger, Joint stiffness, Accelerated skeletal maturation, Long... |
ORPHA:1895 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Portal hypertensio... |
OMIM:263200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis, Long palm |
OMIM:300676 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Slender finger, Clinodactyly, Elbow contracture, Short finger, Single transverse palmar crease, A... |
OMIM:615656 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral bowing, Arachno... |
ORPHA:83 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Umbilical hernia, Osteochondritis dissecans, Intervertebral disk degeneration... |
OMIM:619656 |
| Helix Syndrome |
|
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis |
OMIM:617671 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnorma... |
ORPHA:1788 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Failure to thrive, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating re... |
OMIM:177735 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Short neck, Flattened epiphysis, Ta... |
OMIM:607131 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Renal hypophospha... |
ORPHA:289176 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Short finger, Joint hypermobility, Metatarsus adductus, Clinodactyly of the 5th finger, Hip sublu... |
OMIM:619180 |
| Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Nephrocalcinosis, Arterial occlusion, Pathologic fracture, Hyperoxaluria,... |
OMIM:259900 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... |
ORPHA:1228 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Polydipsia, Hypokalemia, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Elbow dislocation, Abnorma... |
ORPHA:2769 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Short 1st meta... |
ORPHA:2438 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Camptodactyly of finger,... |
ORPHA:2021 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint... |
OMIM:610442 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Contracture... |
ORPHA:314585 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip dislocation, Radial deviation of the hand, Hip contracture, Limited shoulder movement, Talipe... |
OMIM:301041 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephro... |
ORPHA:99880 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal vertebral morphology, Short 5th finger, Abnormality of the vertebral column, 2-3 toe syn... |
OMIM:239800 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... |
ORPHA:280 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Inguinal hernia, Down-sloping sh... |
ORPHA:85293 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti... |
OMIM:601559 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Ketonuria, Methylmalonic aciduri... |
ORPHA:79282 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Short toe, Clinodactyly of the 5th finger, ... |
OMIM:619269 |
| Lowry-Wood Syndrome |
|
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Irregular epiphyses, Joint st... |
ORPHA:1824 |
| Prieto Syndrome |
|
Low-set ears, Clinodactyly, Radial deviation of finger, Talipes equinovarus, Coxa valga |
OMIM:309610 |
| Trigonocephaly 1 |
|
Lumbar hemivertebrae, Craniosynostosis, Metopic synostosis |
OMIM:190440 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis |
OMIM:615433 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Dysphagia, Failure to thrive, Joint contracture |
ORPHA:35708 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Clinodactyly, Short palm |
ORPHA:73273 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Clinodactyly, Recurrent otitis media, Short foot, Scoliosis |
ORPHA:254531 |
| Von Hippel-Lindau Syndrome |
|
Hypertension, Multiple renal cysts, Polycythemia, Renal cell carcinoma |
OMIM:193300 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu... |
ORPHA:79126 |
| Basan Syndrome |
|
Cutaneous syndactyly of toes, Palmoplantar keratoderma, Flexion contracture of digit, Single tran... |
OMIM:129200 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Osteoporosis, Sco... |
OMIM:615381 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Punctate vertebral calcifications, Stippled c... |
OMIM:302960 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Pulmonary ed... |
ORPHA:66529 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Joint stiffness, Proximal upp... |
ORPHA:98863 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger |
OMIM:300706 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, A... |
ORPHA:198 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Single transverse palmar cre... |
OMIM:619951 |
| Larsen-Like Syndrome |
|
Joint dislocation, Radial deviation of the 4th finger, Kyphoscoliosis, Joint hypermobility, Talip... |
OMIM:608545 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Failure to thrive, Azoospermia, Hyponatremia, Penoscrotal hypospadias, Renal salt wa... |
ORPHA:90791 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Ascites, Leukocytosis, Bradycardia, Hyponatremia, Thrombocytopenia, Neutropen... |
ORPHA:391673 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Pycnodysostosis |
|
Small hand, Delayed cranial suture closure, Hypoplastic iliac wing, Short foot, Coronal craniosyn... |
ORPHA:763 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Osteomyelitis, Arthritis, Neutropenia, Dehydration |
ORPHA:33110 |
| Lead Poisoning |
|
Chronic kidney disease, Small for gestational age, Decreased male libido, Imbalanced hemoglobin s... |
ORPHA:330015 |
| Dysosteosclerosis |
|
Platyspondyly, Osteopenia, Short diaphyses, Broad femoral neck, Flared metaphysis, Sclerosis of h... |
OMIM:224300 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract i... |
ORPHA:731 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Talipes equinova... |
ORPHA:56305 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm |
ORPHA:73246 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... |
OMIM:268310 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... |
ORPHA:2347 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Joint stiffness, Abnormal intervertebral disk morphology, Osteoarthritis |
ORPHA:1345 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... |
OMIM:618476 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Hematuria, Neutrophilia, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle... |
ORPHA:99827 |
| Vissers-Bodmer Syndrome |
|
Tall stature, Tapered finger |
OMIM:619033 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre... |
OMIM:615220 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Eleva... |
OMIM:212138 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Tall stature, Large for gestational age, Joint hypermobility, Arachnodactyly, Hyperlordosis, Larg... |
OMIM:617011 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Tracheomalacia, Lumbar hyperlordosis... |
OMIM:212720 |
| Congenital Myopathy 12 |
|
Joint contracture of the hand, Overlapping fingers, Arachnodactyly, Camptodactyly, Jaw contracture |
OMIM:612540 |
| Cardiogenic Shock |
|
Hypotension, Oliguria, Right ventricular failure, Edema, Abnormal left ventricular function, Cong... |
ORPHA:97292 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Short humerus, Lateral femoral b... |
OMIM:239000 |
| 15q26 overgrowth syndrome |
|
Camptodactyly of finger, Abnormal joint morphology, Joint hypermobility, Arachnodactyly, Overgrow... |
DECIPHER:81 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Sandal gap, Joint hypermobility, Brachydactyly, Short foot, Kyphosis |
OMIM:300354 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... |
ORPHA:1106 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Hip dislocation, Capitate-hamate fusion, Toe syndac... |
OMIM:206920 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga |
OMIM:132450 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Hemivertebrae, Sacral dimple |
OMIM:619318 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalangeal joint of the... |
OMIM:607015 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Small hand, Cervical kyphosis, Short clavicles, Short neck, Overweight, Tapered finger |
ORPHA:401923 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone oss... |
ORPHA:99646 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Cholera |
|
Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem... |
ORPHA:173 |
| Mcdonough Syndrome |
|
Scoliosis, Kyphosis, Bilateral single transverse palmar creases |
ORPHA:2471 |
| Bresek Syndrome |
|
Scoliosis, Hemivertebrae, Postaxial hand polydactyly |
ORPHA:85284 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... |
ORPHA:31826 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... |
ORPHA:848 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Sandal gap, Camptodact... |
ORPHA:261330 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly |
OMIM:616730 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo... |
OMIM:166250 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology,... |
ORPHA:3224 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Sh... |
OMIM:276820 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca... |
ORPHA:159 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Joint stiffness, Proximal upp... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Joint stiffness, Proximal upp... |
ORPHA:98853 |
| Pearson Syndrome |
|
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoplastic spleen, Dysphagia, Renal insufficiency, ... |
ORPHA:699 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... |
OMIM:277440 |
| Oculoskeletodental Syndrome |
|
Short 5th finger, Conductive hearing impairment, Hearing impairment, Clinodactyly, Hypoplasia of ... |
ORPHA:557003 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis |
OMIM:603387 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, 2-3 toe syndactyly, Hallux valgus, ... |
OMIM:618659 |
| Ogden Syndrome |
|
Torsade de pointes, Hyperbilirubinemia, Pulmonary edema, Premature ventricular contraction, Arrhy... |
OMIM:300855 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Long fingers, Tapered finger |
OMIM:618292 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... |
OMIM:605282 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs |
ORPHA:77300 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Aneurysm-Osteoarthritis Syndrome |
|
Atypical scarring of skin, Camptodactyly of finger, Umbilical hernia, Osteochondritis dissecans, ... |
ORPHA:284984 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalange... |
OMIM:101800 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Genu valgum, Fibular bowing, Inguinal herni... |
OMIM:613848 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Prominent fingertip pads, Joint hypermobility, Talipes equinovarus, Long fingers, Scoliosis, Tape... |
OMIM:617773 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... |
ORPHA:508533 |
| Symphalangism, Proximal, 1A |
|
Distal symphalangism of hands, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of t... |
OMIM:185800 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, H... |
ORPHA:35710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Tall stature, Joint hypermobility, Arachnodactyly, Flexion contracture, Disproportio... |
OMIM:309520 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis, Hip dislocation |
ORPHA:464282 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Verteb... |
OMIM:312150 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Platyspondyly, Osteopenia, Congenital hip dislocation, Joint di... |
OMIM:225400 |
| Prolactinoma |
|
Irregular menstruation, Osteopenia, Hypotension, Female hypogonadism, Male hypogonadism, Abnormal... |
ORPHA:2965 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic... |
OMIM:620076 |
| Cutaneous Mastocytoma |
|
Hypotension, Telangiectasia macularis eruptiva perstans, Angioedema, Telangiectasia of the skin, ... |
ORPHA:79455 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca... |
OMIM:119600 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hematochezia, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia,... |
OMIM:618183 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Vertebral clefting, B... |
OMIM:614701 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Joint contracture of the hand, Osteopathia striata, Broad ribs, Fibular a... |
OMIM:300373 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Cranial hyperostosis, Umbilical hernia, Calvarial hyperostosi... |
OMIM:607014 |
| ERI1-related disease |
|
Decreased body weight, Finger joint hypermobility, Dislocated radial head, Hip dislocation, Synda... |
OMIM:608739 |
| Arteriosclerosis, Severe Juvenile |
|
Dysplasia of second lumbar vertebra, Short phalanx of finger, Hip dysplasia |
OMIM:208060 |
| Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Limitation of joint mob... |
ORPHA:1328 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... |
OMIM:194380 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar aplasia, Telangiectasia, Neutropenia, Calcinosis, Leukemia, Premature o... |
ORPHA:221008 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Joint hypermobility, Flexion contracture, Kyphoscoliosis |
OMIM:616470 |
| Cornelia De Lange Syndrome 6 |
|
Short 1st metacarpal, Inguinal hernia, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cli... |
OMIM:620568 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Brachydactyly, Overfolded helix, Short phalanx of finger, Abnormal pinn... |
OMIM:614684 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Azoospermia, Hyponatremia, Hypogonadotropic hypogonadism, Oligozoospermia, Ren... |
OMIM:300200 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Abnormality of iron homeostasis, Proximal tubulopathy, Extramedullary hematopoiesis, ... |
ORPHA:231222 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flared metaphysis, Delayed cranial suture closure, Cortical irregularity, Anterior co... |
OMIM:249420 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal fem... |
ORPHA:352540 |
| Zttk Syndrome |
|
Aortic regurgitation, Unilateral renal agenesis, Small hand, Failure to thrive, Cervical ribs, Ho... |
OMIM:617140 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... |
OMIM:259770 |
| Xp22.13P22.2 Duplication Syndrome |
|
Small hand, Umbilical hernia, Congenital diaphragmatic hernia, 2-3 toe syndactyly, Short neck, Sc... |
ORPHA:284180 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Absent forearm, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Single tr... |
OMIM:201170 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Camptodactyly of finger, Carpal synos... |
ORPHA:90652 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620125 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Kyphosis, Ankle clonus |
OMIM:614409 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphology, Scoliosis, Abnormal v... |
OMIM:118100 |
| Dystonia 31 |
|
Dysphagia, Abnormal posturing |
OMIM:619565 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Flared metaphysis, Brachydacty... |
OMIM:187601 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hearing impairment, Clinodactyly, Sensorineural hearing impairment, Kyphoscoliosis, Talipes equin... |
OMIM:616354 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure |
ORPHA:1129 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Inguinal hernia, Long pa... |
ORPHA:3342 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle... |
OMIM:200980 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
EEG with burst suppression, Hypsarrhythmia, Scoliosis, Clinodactyly |
OMIM:620316 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Nephrocalcinosis, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Hypoc... |
ORPHA:428 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Tapered finger |
OMIM:619000 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Cuboid-shaped... |
ORPHA:1517 |
| Galloway-Mowat Syndrome 10 |
|
Arachnodactyly |
OMIM:619609 |
| Gand Syndrome |
|
Long toe, Long fingers |
OMIM:615074 |
| Al Kaissi Syndrome |
|
Small hand, Clinodactyly, Deep palmar crease, Hemivertebrae, Sacral dimple |
OMIM:617694 |
| Cornelia De Lange Syndrome 2 |
|
Small hand, Clinodactyly, Limited elbow movement, Short neck, Brachydactyly, Short foot, Proximal... |
OMIM:300590 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Arachnodactyly |
OMIM:612242 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Lymphedema, Primary, With Myelodysplasia |
|
Cellulitis, Long fingers, Tapered finger |
OMIM:614038 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Impotence, Hyponatremia, Hypotension, Oligomenorrhea |
ORPHA:91354 |
| Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow... |
OMIM:187600 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Radial deviation of finger, Elbow flexion contracture, Limited elbow extension, Kyphoscoliosis, T... |
OMIM:272430 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Verteb... |
OMIM:253290 |
| Atypical Rett Syndrome |
|
Small hand, Short foot, Scoliosis, Kyphosis |
ORPHA:3095 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Small hand, Clinodactyly, Low-set, posteriorly rotated ears, Acromicria, Short foot |
ORPHA:254525 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Finger joint hypermobility, Dislocate... |
OMIM:620663 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis, Hypotension, Failure to thrive, Camptodactyly of finger, Arrhythmia, Telangiectasia... |
ORPHA:2135 |
| Hydroxykynureninuria |
|
Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Tachycardia, ... |
ORPHA:79155 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Os odontoideum, Irregular epiphyses, Biconcave vertebral bod... |
OMIM:619260 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss, Pollakisuria |
ORPHA:95626 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic arm shortening, ... |
OMIM:268305 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Brachydactyly, Postaxial hand polydactyly, Scoliosis, Kyphosis |
ORPHA:2075 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis |
OMIM:616455 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly |
OMIM:258850 |
| Mercury Poisoning |
|
Acute kidney injury, Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension |
ORPHA:330021 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials, Abnormality of visual evoke... |
OMIM:617523 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss, Anorexia, Tubulointerstitial nephritis, Elevated circulating C-reactive protein conc... |
ORPHA:91500 |
| 19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Finger syndactyly, Sandal gap, Clinodactyly of the 5th finger, Short neck, Deep... |
ORPHA:254346 |
| 20P13 Microdeletion Syndrome |
|
Low-set ears, Hypoplastic helices, Finger syndactyly, Clinodactyly, Polydactyly, EEG abnormality,... |
ORPHA:313781 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Flared metaphysis, Short finger, Jo... |
OMIM:608940 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Kyphosis, Joint stiffness, Genu valgum, Arachnodactyly, Osteoporosis, Scoliosis, Recurrent fractu... |
ORPHA:394 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger,... |
ORPHA:261318 |
| Atelosteogenesis Type I |
|
Platyspondyly, Absent or minimally ossified vertebral bodies, Abnormal ossification involving the... |
ORPHA:1190 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal dental enamel morphology, Joint stiffness,... |
ORPHA:2107 |
| Mehmo Syndrome |
|
Talipes equinovarus, Obesity, Tapered finger |
ORPHA:85282 |
| Distal Duplication 17Q |
|
Rhizomelia, Overlapping toe, Genu valgum, Joint hypermobility, Arachnodactyly, Hand polydactyly, ... |
ORPHA:3379 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Scoliosis, Kyphosis, Bone cyst |
ORPHA:2047 |
| Monosomy 18Q |
|
Delayed skeletal maturation, Slender build, Joint hypermobility, Kyphoscoliosis, Arachnodactyly, ... |
ORPHA:1600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Myeloprolifer... |
ORPHA:79456 |
| Tsh-Secreting Pituitary Adenoma |
|
Decreased fertility in females, Weight loss, Female hypogonadism, Decreased fertility in males, I... |
ORPHA:91347 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
| Spondyloocular Syndrome |
|
Platyspondyly, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Long finger... |
OMIM:605822 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly |
OMIM:616420 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... |
ORPHA:93111 |
| 3C Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Short neck, Hand polydactyly, Brachydactyly, Hem... |
ORPHA:7 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Reticul... |
OMIM:232800 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Arthrogryposis multiplex congenita, ... |
ORPHA:2953 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis |
ORPHA:88628 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Clinodactyly, Camptodactyly of finger, Protruding ear, Talipes equinovarus, Short palm, Tapered f... |
ORPHA:85279 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Joint hypermobility, Short neck, Osteoporosis, Abnormal intervertebral disk morpho... |
ORPHA:85194 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ... |
OMIM:230600 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossification, Joint swellin... |
ORPHA:2976 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pteryg... |
OMIM:211350 |
| Alexander Disease |
|
Self-injurious behavior, Osteopenia, Hypotension, Scoliosis, Failure to thrive, Short neck, Hyper... |
ORPHA:58 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Abnormality of the vertebral column, Sensorineural hearing i... |
OMIM:109120 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Arterial Tortuosity Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Arachnodactyly... |
OMIM:208050 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi... |
OMIM:600376 |
| Scrub Typhus |
|
Myocarditis, Hypotension, Renal insufficiency, Splenomegaly |
ORPHA:83317 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Alg1-Cdg |
|
Limitation of joint mobility, Scoliosis, Kyphosis |
ORPHA:79327 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Congenital diaphragmatic hernia, Talipes equinovarus, 2-3 finger syndactyly, Broad t... |
OMIM:312870 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Inguinal hern... |
ORPHA:2789 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Ziegler-Huang Syndrome |
|
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Long fingers, Flexion contracture, Scoliosis, Tapered finger |
OMIM:218000 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Small hand, Broad thumb, Slender finger, Broad hallux, Lumbar hyperlordosis, Clinodac... |
ORPHA:251028 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity, Genu valgum, Large hands, Tapered finger |
ORPHA:85325 |
| Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... |
ORPHA:949 |
| Renal Tubular Dysgenesis |
|
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... |
OMIM:228520 |
| Non-Functioning Pituitary Adenoma |
|
Irregular menstruation, Hypotension, Male hypogonadism, Abnormality of the menstrual cycle, Hypog... |
ORPHA:91349 |
| Rothmund-Thomson Syndrome |
|
Facial edema, Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the radius, ... |
ORPHA:2909 |
| Gm1-Gangliosidosis, Type I |
|
Joint stiffness, Inguinal hernia, Thickened ribs, Hypoplastic vertebral bodies, Short neck, Beaki... |
OMIM:230500 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Clinodactyly, Kyphoscoliosis, Brachydactyly, Ulnar deviation of the hand, Camptodactyly, Short fo... |
OMIM:275900 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Limitation of joint mobility, Slender build, Lumbar hyperlordosis, Large for gestational age, Kyp... |
ORPHA:457359 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... |
OMIM:616943 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Ulnar bowing, Decreased ca... |
OMIM:617866 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Anorexia, Pal... |
ORPHA:100075 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Atlantoaxial instability, Congenital kyphoscoliosis, Knee... |
ORPHA:536545 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Slender long bone, Small finger, Joint hypermobility, Clinodactyly of... |
OMIM:170390 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Loeys-Dietz Syndrome 4 |
|
Tall stature, Spondylolisthesis, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Scolio... |
OMIM:614816 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration, Neonatal death |
OMIM:602199 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ... |
ORPHA:85408 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypernatremia, Failure to thrive, Anorexia... |
ORPHA:3008 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Rheumatoid arthritis, Lymphopenia, Increased intervertebral space, Tubulointerstitial fibrosis, N... |
OMIM:607944 |
| Shashi-Pena Syndrome |
|
Kyphosis, Cervical C2/C3 vertebral fusion, Deep palmar crease, Osteoporosis, Scoliosis, Short met... |
OMIM:617190 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... |
ORPHA:232 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Glycosuria, Hypertonic dehydration |
OMIM:606824 |
| Hand-Foot-Genital Syndrome |
|
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... |
OMIM:140000 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis |
OMIM:106300 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint hypermobility, Increased body weight, 2-3 toe syndactyly, Clinodactyly of the 5... |
ORPHA:589905 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,... |
ORPHA:2658 |
| Chung-Jansen Syndrome |
|
Obesity, Joint hypermobility, Hip dysplasia, Clinodactyly of the 5th finger, Tapered finger |
OMIM:617991 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Tapered finger |
OMIM:181180 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Polydactyly, S... |
OMIM:109400 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Metatarsus valgus, Joint hypermobility, Genu varum, Scoliosis, Kyphosis, Tapered finger |
ORPHA:2479 |
| Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Craniofacial hyperostosis, Ab... |
ORPHA:192 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... |
OMIM:224690 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome... |
ORPHA:447 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Edema, Palpitation... |
ORPHA:100078 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Long penis, Polydipsia, Cardiomyopathy, Polydactyly, Hypokalemia, Increased C-p... |
ORPHA:769 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity |
OMIM:615084 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Adducted thumb, Ankle clonus |
ORPHA:412057 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... |
OMIM:235700 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Obesity, Polydipsia |
ORPHA:3157 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Delayed cranial suture closure, Cr... |
OMIM:610682 |
| Sialidosis Type 1 |
|
Kyphosis, Hernia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Waardenburg Syndrome, Type 3 |
|
Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou... |
OMIM:148820 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib morphology, Bilateral single t... |
ORPHA:3378 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Osteolysis, Hip contracture, Bone cyst, Posterio... |
ORPHA:3042 |
| Bainbridge-Ropers Syndrome |
|
Hand clenching, Arachnodactyly, Deep palmar crease, Ulnar deviation of the hand, Contracture of t... |
OMIM:615485 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc... |
OMIM:261740 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Shallow acetabular fossae, Congenital contracture, Sandal gap, Patellar hypoplasia, Abnormal epip... |
ORPHA:261279 |
| Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j... |
OMIM:605130 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Polycythemia, Hypertrophic cardiomyopathy, Tall stature, Obesity, Large for gestatio... |
ORPHA:116 |
| Achondroplasia |
|
Radial bowing, Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Femoral bowing, Tride... |
OMIM:100800 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Lipodystrophy, Kyphosis, Hip dislocation |
OMIM:608776 |
| Ritscher-Schinzel Syndrome 1 |
|
Hemivertebrae, Syndactyly |
OMIM:220210 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Hypoplastic inferior ilia, Abnormal... |
ORPHA:1452 |
| Acheiropody |
|
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Carpal bone aplasia, Fibular ap... |
OMIM:200500 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias |
OMIM:250790 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Genu recurvatum, Joint dislocation, Sandal gap, Hypermobility of distal interphalangeal joints, R... |
ORPHA:230851 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... |
OMIM:616549 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... |
ORPHA:536471 |
| Koolen-De Vries Syndrome |
|
Slender finger, Hip dislocation, Prominent fingertip pads, Spondylolisthesis, Joint hypermobility... |
OMIM:610443 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Clinodactyly, Kyphoscoliosis, Brachydactyly, Posteri... |
OMIM:617808 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion |
OMIM:614702 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia, Ketonuria, Failure to thrive, Dehydration |
OMIM:615453 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Radial bowing, Fibular aplasia, Talipes equinovarus, Short neck, Aplasia/Hypop... |
OMIM:108720 |
| Cardiofacioneurodevelopmental Syndrome |
|
Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly, Kyphosis |
OMIM:619123 |
| Pallister-Hall Syndrome |
|
Postaxial foot polydactyly, Toe syndactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... |
OMIM:146510 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Clinodactyly, Radial ... |
OMIM:136760 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed cranial suture closure, Generalized lipodystrophy, Decreased adipose tissue around neck, ... |
OMIM:608612 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Radial deviation of finger, Inguinal hernia, Kyphosis, Clinodactyly |
OMIM:609944 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly of finger, Short 4th ... |
ORPHA:3201 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Acromesomelia, Toe syndactyly, Multiple joint contractures, Polydactyly, Arachnodactyly, Abnormal... |
ORPHA:464306 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ... |
OMIM:619648 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Squared iliac bones, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cerv... |
OMIM:618000 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Vasculitis, Hypoplastic ilia, Short distal phalanx of finger, Granuloma, ... |
ORPHA:1855 |
| Congenital Myopathy 22A, Classic |
|
Knee contracture, Hip contracture, Thoracic scoliosis, Achilles tendon contracture, Scapular wing... |
OMIM:620351 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Fibula... |
ORPHA:3144 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Ulnar deviation of finger, Slender long bone, Delayed cranial suture closure, Hypoplasia of the c... |
OMIM:210730 |
| Schwartz-Jampel Syndrome |
|
Arthrogryposis multiplex congenita, Abnormality of the ureter, Genu valgum, Hip contracture, Decr... |
ORPHA:800 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hand polydacty... |
OMIM:314390 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Scoliosis, Clinodactyly |
OMIM:618577 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Inguinal hernia, Kyphoscoliosis, Limb undergrowth, Omphalocele, Long fingers, Flexion ... |
OMIM:608149 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:354 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Radial deviation of finger, Kyphoscoliosis, Talipes equinovarus, Hemivertebrae, Sco... |
OMIM:301040 |
| Aase-Smith Syndrome I |
|
Slender finger, Flexion contracture, Talipes equinovarus |
OMIM:147800 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Overlapping toe, Down-sloping shoulders, Talipes equinovarus, Short neck, Flexion co... |
OMIM:617452 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... |
OMIM:187300 |
| Occipital Horn Syndrome |
|
Platyspondyly, Persistent open anterior fontanelle, Broad ribs, Genu valgum, Limited elbow extens... |
OMIM:304150 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Small hand, Clinodactyly, Sandal gap, Tall stature, Obesity, Short foot, Tapered finger |
OMIM:618089 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Hyperlordosis, Clinodac... |
ORPHA:568 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Cubitus valgus, Hemivertebrae, Scoliosis, Syndactyly |
OMIM:104350 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Tapered finger, Talipes equinovarus, Hip dysplasia |
OMIM:617219 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Aortic regurgitation, Platyspondyly, Irregular acetabular roof, Broad ribs... |
OMIM:619698 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis, Multiple joint contractures |
OMIM:128100 |
| Peho-Like Syndrome |
|
Tapered finger |
OMIM:617507 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
| Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures, Dysphagia, Abnormal posturing |
OMIM:304700 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Inguinal hernia, Hip dysplasia, Finger joint hypermobility, Flexion contracture, Scoliosis, Metac... |
ORPHA:544503 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Obesity, Tapered finger |
ORPHA:352530 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Low plasma citrulline, Weight loss, Abnormal blood ion concentrati... |
ORPHA:95427 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical hemivertebrae, Broad p... |
ORPHA:508498 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hem... |
ORPHA:231226 |
| Stickler Syndrome |
|
Platyspondyly, Hip dislocation, Joint dislocation, Abnormal form of the vertebral bodies, Abnorma... |
ORPHA:828 |
| Oslam Syndrome |
|
Radioulnar synostosis, Radial deviation of finger, Clinodactyly |
OMIM:165660 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly,... |
OMIM:305400 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Scoliosis, Kyphosis |
OMIM:617143 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short toe, HbH hemoglobin, Failure to thrive, Microcytic anemia, Talipes equinovarus, Short neck,... |
ORPHA:98791 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Scapular winging,... |
OMIM:617061 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Genu valgum, Hip contracture, Finger joint hypermobility, Scoliosis, K... |
OMIM:618493 |
| Infant Botulism |
|
Hypotension, Xerostomia, Hyponatremia, Dysphagia, Anorexia, Cardiac arrest, Hypertension |
ORPHA:178478 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormality of the ankle, Carpal synostosis |
ORPHA:2010 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Mesomelia, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Palmop... |
OMIM:616482 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Neutrop... |
ORPHA:221016 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed skeletal maturation, Delayed cranial suture closure, Elbow flexion contracture, Aplasia/H... |
OMIM:151050 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitations, Facial t... |
ORPHA:100080 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Optic atrophy, Joint contracture of the hand, Clinodactyly, Clinodactyly of the 5th toe, Talipes ... |
OMIM:601110 |
| Prolidase Deficiency |
|
Palmoplantar keratoderma, Abnormal hip bone morphology, Genu valgum, Bilateral single transverse ... |
ORPHA:742 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Omphalocele, ... |
OMIM:618316 |
| Marden-Walker Syndrome |
|
Arthrogryposis multiplex congenita, Abnormal form of the vertebral bodies, Camptodactyly of finge... |
ORPHA:2461 |
| Fliedner-Zweier Syndrome |
|
Hallux valgus, Scoliosis, Kyphosis, Joint hypermobility |
OMIM:620511 |
| Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Long thumb, Joint hypermobility |
OMIM:620370 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Dehydration |
ORPHA:79134 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Large for gestational age, Overlapping toe, Joint hypermobility, Postaxial hand polydactyly, Tali... |
OMIM:213980 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Talipes equinovarus, Hyperlordosis, Long fingers, Scapular winging |
ORPHA:169186 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity |
ORPHA:352447 |
| Serotonin Syndrome |
|
Acute kidney injury, Hypotension, Tachycardia, Restlessness, Hypertension, Agitation |
ORPHA:43116 |
| Three M Syndrome 2 |
|
Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordosis, Protruding ear, Short ne... |
OMIM:612921 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Dentinogenesis imperfecta, Femoral bowing, Biconcave flattened vertebrae, Increased s... |
OMIM:166200 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Tall stature, Bullet-shaped middle ... |
OMIM:602535 |
| Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Weight loss, Restlessness, Abnormal posturing |
ORPHA:157941 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mesomelia, Short distal phalanx of finger, Broad thumb, Conductive hearing impairment, Hearing im... |
OMIM:616331 |
| Alkaptonuria |
|
Aortic valve stenosis, Dark urine, Mitral regurgitation, Prostatitis, Aminoaciduria, Elevated uri... |
ORPHA:56 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs... |
OMIM:603116 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Long hallux, Obesity, Tapered finger |
OMIM:619854 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... |
ORPHA:100082 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat... |
ORPHA:93357 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Lipoatrophy, Kyphosis |
ORPHA:349 |
| Cohen Syndrome |
|
Lumbar hyperlordosis, Genu valgum, Single transverse palmar crease, Joint hypermobility, Thoracic... |
OMIM:216550 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Tall stature, Obesity, Accelerated skeletal maturation, Clinodactyly of the 5th finge... |
OMIM:618430 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
| Malan Syndrome |
|
Overgrowth, Coxa valga, Scoliosis, Long fingers |
OMIM:614753 |
| Enteric Anendocrinosis |
|
Portal hypertension, Dehydration |
ORPHA:83620 |
| Srd5A3-Cdg |
|
Abnormal sacrum morphology, Palmoplantar keratoderma, Kyphosis |
ORPHA:324737 |
| Acquired Methemoglobinemia |
|
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Knee flexion contracture, Postaxial polydactyly, 2-3 ... |
ORPHA:435638 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphosis, Kyphoscoliosis, Arachnodactyly, Slender toe, Long toe, Camptodactyly, Osteoporosis, Rec... |
ORPHA:3063 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... |
ORPHA:3103 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... |
ORPHA:1724 |
| Infantile Liver Failure Syndrome 3 |
|
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... |
OMIM:618641 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Broad ... |
ORPHA:2502 |
| Multiple Endocrine Neoplasia Type 1 |
|
Impotence, Decreased male libido, Shortened QT interval, Anorexia, Hypercalcemia, Reduced bone mi... |
ORPHA:652 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl... |
ORPHA:3027 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypoplastic ilia... |
ORPHA:163966 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto... |
OMIM:616007 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Anterior wedgin... |
OMIM:253200 |
| Marfan Syndrome |
|
Genu recurvatum, Tall stature, Premature osteoarthritis, Protrusio acetabuli, Limited elbow exten... |
OMIM:154700 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hem... |
ORPHA:231214 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... |
ORPHA:309854 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Hip dysplasia, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Distal Deletion 19P |
|
Keloids, Umbilical hernia, Arachnodactyly, Long toe, Vaginal hernia |
ORPHA:96129 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration |
ORPHA:634 |
| Braddock-Carey Syndrome 1 |
|
Small hand, Clinodactyly, Talipes equinovarus, Hyperlordosis, Camptodactyly, Posteriorly rotated ... |
OMIM:619980 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:97287 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Inguinal hernia, Scoliosis, Kyphosis |
ORPHA:261190 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Mi... |
ORPHA:99776 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Sandal gap, Hemivertebrae, Hip dysplasia, Clinodactyly of the 5th finger, Short foot, Scoliosis, ... |
OMIM:156200 |
| Meester-Loeys Syndrome |
|
Broad distal phalanx of finger, Umbilical hernia, Arachnodactyly, Brachydactyly, Joint contractur... |
OMIM:300989 |
| Acute Radiation Syndrome |
|
Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia |
ORPHA:454831 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Talipes equinovarus, Short neck, Clinodactyly of the 5th finger |
OMIM:619859 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest |
ORPHA:70587 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Urinary gl... |
ORPHA:79255 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Short thumb, Failure to thrive, Persistence of hemoglobin F, T... |
OMIM:612561 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Bi... |
ORPHA:1507 |
| Spinocerebellar Ataxia 47 |
|
Low-set ears, Small hand, Clinodactyly, Tapered finger |
OMIM:617931 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Enuresis, Polydipsia, Obesity, Hyperlipidemia, Hyponatremia, Polyphagia,... |
ORPHA:293987 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Low-set ears, Clinodactyly of the 5th finger, Clinodactyly |
OMIM:300997 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Delayed cranial suture c... |
OMIM:309350 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Pituitary Apoplexy |
|
Hypotension, Hypertension, Hyponatremia, Oligomenorrhea, Hypergonadotropic hypogonadism, Impotenc... |
ORPHA:95613 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Atypical Werner Syndrome |
|
Chondrocalcinosis, Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Gen... |
ORPHA:79474 |
| Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Han... |
OMIM:258860 |
| Imagawa-Matsumoto Syndrome |
|
Camptodactyly, Clinodactyly, Large hands |
OMIM:618786 |
| Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
| Hajdu-Cheney Syndrome |
|
Decreased skull ossification, Hernia, Bowing of the long bones, Short neck, Patellar dislocation,... |
ORPHA:955 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration |
ORPHA:313 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Neonatal Marfan Syndrome |
|
Arachnodactyly, Long toe, Adducted thumb, Long fingers, Increased arm span, Flexion contracture, ... |
ORPHA:284979 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Tall stature, Long hallux, Single transverse palmar crease, Kyphoscoliosis, Narrow palm, Talipes ... |
OMIM:309583 |
| Rett Syndrome |
|
Short foot, Scoliosis, Kyphosis |
OMIM:312750 |
| Glass Syndrome |
|
Inguinal hernia, Arachnodactyly, Talipes equinovarus, Camptodactyly, Anterior tibial bowing |
OMIM:612313 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Short neck, Neutropenia, Hypoplastic ilia, Hypoplastic coccygeal ver... |
OMIM:105650 |
| Lateral Meningocele Syndrome |
|
Keloids, Umbilical hernia, Sclerosis of skull base, Inguinal hernia, Biconcave vertebral bodies, ... |
OMIM:130720 |
| Trichorhinophalangeal Syndrome, Type I |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of proximal int... |
OMIM:190350 |
| Sandestig-Stefanova Syndrome |
|
Low-set ears, Clinodactyly, Underdeveloped tragus, Bilateral single transverse palmar creases, Sh... |
OMIM:618804 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Low-set ears, Hearing impairment, Clinodactyly, Recurrent otitis media, Single transverse palmar ... |
OMIM:613604 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Short neck, Scoliosis, Hip contracture, Tapered finger |
OMIM:616801 |
| C Syndrome |
|
Low-set ears, Ulnar deviation of finger, Postaxial foot polydactyly, Toe syndactyly, Clinodactyly... |
OMIM:211750 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Radial deviation of finger, Clinodactyly |
OMIM:188025 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Unilateral radial aplasia, Partial absence of thumb, 2-3 toe syndactyly, Abnormality of... |
ORPHA:476126 |
| Temple Syndrome |
|
Small hand, Clinodactyly, Recurrent otitis media, Short foot, Scoliosis, Posteriorly rotated ears |
OMIM:616222 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins... |
ORPHA:727 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Radioulnar synostosis, Short n... |
OMIM:245600 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Long fingers, Tapered finger |
OMIM:614407 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Decreased nerve conduction velocit... |
ORPHA:101085 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,... |
ORPHA:896 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... |
ORPHA:666 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Atrioventricular block, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac cr... |
ORPHA:93317 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ov... |
ORPHA:221120 |
| Mend Syndrome |
|
Low-set ears, Wide anterior fontanel, Abnormal auditory evoked potentials, Broad hallux, Overlapp... |
ORPHA:401973 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Biconcave vertebral bodies, Hypokalemia, Abdominal obesity, Osteoporosis, Vertebral comp... |
OMIM:219090 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Low-set ears, Broad thumb, Clinodactyly, Ulnar deviated club hands, Hallux valgus, Swan neck-like... |
OMIM:619880 |
| 19P13.3 Microduplication Syndrome |
|
Clinodactyly, Kyphoscoliosis, Long fingers, Hip dysplasia, Hip subluxation, Hip dislocation |
ORPHA:447980 |
| Kbg Syndrome |
|
Radial deviation of finger, Delayed skeletal maturation, Ulnar deviation of the 2nd finger, Clino... |
OMIM:148050 |
| Bcard Syndrome |
|
Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E... |
OMIM:612394 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Microsporidiosis |
|
Nephritis, Brain abscess, Urethritis, Abnormality of the spleen, Abnormality of the urinary syste... |
ORPHA:2552 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Jaberi-Elahi Syndrome |
|
Hand clenching, Joint stiffness, Joint hypermobility, Talipes equinovarus, Scoliosis, Kyphosis |
OMIM:617988 |
| Neuhauser Syndrome |
|
Genu recurvatum, Osteopenia, Genu valgum, Arachnodactyly |
OMIM:249310 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620126 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:182900 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Short neck, Small p... |
ORPHA:96334 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension, Pulmonary edema |
ORPHA:70578 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Generalized edema, Acute kidney injury, Oliguria, Edema, Anuria, Brain absce... |
ORPHA:544482 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Limb joint contracture, Overlapping toe, Scoliosis, Tapered finger |
OMIM:300004 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Loeys-Dietz Syndrome 3 |
|
Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, Talipes equinovarus, Protr... |
OMIM:613795 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Finger syndactyly, Scoliosis, Genu varum |
ORPHA:1969 |
| Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Tracheobronchomalacia, Inguinal hernia, Short neck, Split hand, Flexion contrac... |
OMIM:309900 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Heart murmur, Oliguria, Congestive heart failure |
ORPHA:1054 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteoporosis, Osteopenia, Kyphosis, Truncal obesity |
OMIM:219080 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Scoliosis, Tapered finger |
OMIM:618825 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Mesomelia, Broad thumb, Clinodactyly, Short neck, Brachydactyly, Omphalocele, Camptodactyly, Shor... |
OMIM:616894 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Ankle flexion contracture, Finger syndactyly, Knee flexion contracture, Single transverse palmar ... |
ORPHA:435938 |
| Clark-Baraitser Syndrome |
|
Low-set ears, Sandal gap, Large earlobe, Clinodactyly |
OMIM:617752 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Proximal renal tubular... |
OMIM:309000 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Slender finger |
OMIM:250940 |
| Dpagt1-Cdg |
|
Clinodactyly, Arachnodactyly, Lipodystrophy, Camptodactyly, Flexion contracture, Scoliosis |
ORPHA:86309 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia, Cardiac conduction... |
ORPHA:2131 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Dysphagia, Compulsive behaviors... |
ORPHA:93256 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteoporosis, Osteopenia, Kyphosis, Truncal obesity |
OMIM:610475 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the... |
ORPHA:464738 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Slender long bone, Slender metacarpals, Ovoid vertebral bodies, Coxa valga |
OMIM:620601 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Arachnodactyly |
ORPHA:2707 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Familial Visceral Myopathy |
|
Arachnodactyly, Umbilical hernia, Camptodactyly of finger |
ORPHA:2604 |
| Leptospirosis |
|
Hypotension, Acute kidney injury, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degre... |
ORPHA:509 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Joint hypermobility, Brachydactyly, Absent fourth finger distal interphalangeal crease, Contractu... |
OMIM:618050 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, An... |
OMIM:611490 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Stiff neck, Dysphagia, Anorexia, Hypertension, Agitation |
ORPHA:2912 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Abnormal metaphysis morphology, Long fibula, Anemia, Reduced bone mineral density |
ORPHA:935 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Acute kidney injury, Sinus tachycardia, Oliguria, Abnormal ... |
ORPHA:466650 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Obesity, Overgrowth, Short neck, Tapered finger, Scoliosis, Thoracic kyphosis |
OMIM:620250 |
| Shukla-Vernon Syndrome |
|
Long fingers, Tapered finger |
OMIM:301029 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Scoliosis, Hemivertebrae, Vertebral segmentation defect |
ORPHA:1394 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Cubitus valgus, Clinodactyly of the 5th finger, Brachydactyly, Kyphoscoliosis |
OMIM:620237 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Flexion contracture, Scoliosis, Tapered finger |
OMIM:616505 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Short toe, Umbilical hernia, Atrophic scars, Recurrent mandibular subluxations, Ingui... |
OMIM:225410 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Postaxial foot polydactyly, Contractures of the large joints, Single transverse palmar crease, Lo... |
ORPHA:521426 |
| Tetrasomy 5P |
|
Overlapping toe, Pericallosal lipoma, Talipes equinovarus, Short neck, Short hallux, Long fingers... |
ORPHA:3309 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Pitt-Hopkins Syndrome |
|
Short fifth metatarsal, Small hand, Cupped ear, Clinodactyly, Prominent fingertip pads, Overlappi... |
OMIM:610954 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent... |
OMIM:607323 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Hip dysplasia, Flexion contracture, Short foot, Scoliosis, Kyphosis |
ORPHA:500055 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Genu recurvatum, Short 4th toe, Joint hypermobility, Short 3rd toe, Tapered finger |
OMIM:618707 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot... |
ORPHA:53271 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment, Clinodactyly |
OMIM:619981 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Prominent fingertip pads, Tapered finger |
OMIM:615722 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Tracheomalacia, Cervical spinal canal stenosis, Prominent fingertip pads, Slen... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Tracheomalacia, Cervical spinal canal stenosis, Prominent fingertip pads, Slen... |
ORPHA:363958 |
| Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Hemivertebrae, Ankle clonus |
OMIM:614688 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Hearing impairment, Clinodactyly, Short neck, Camptodactyly, Abnormality of the han... |
ORPHA:369891 |
| Monosomy 9Q22.3 |
|
Palmar pits, Abnormality of the vertebral column, Abnormal rib morphology, Umbilical hernia, Poly... |
ORPHA:77301 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Joint hypermobility, Osteoporosis, Scoliosis, Kyphosis |
OMIM:619718 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Small hand, Rocker bottom foot, Bilateral conductive hearing impairment, Hearing impairment, Clin... |
ORPHA:488642 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis, Prominent metopic ridge |
ORPHA:261144 |
| Geleophysic Dysplasia 1 |
|
Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal... |
OMIM:231050 |
| Noonan Syndrome 14 |
|
Clinodactyly, Limited elbow extension, Cubitus valgus, Short neck, Deep palmar crease, Scapular w... |
OMIM:619745 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Brachydactyly, Tapered finger |
ORPHA:317 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Talipes e... |
OMIM:134780 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Polyhydramnios, Hypochloremia, Dehydration, Increas... |
OMIM:214700 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Pelizaeus-Merzbacher Disease |
|
Joint stiffness, Scoliosis, Kyphosis |
ORPHA:702 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Overlapping toe, Ingui... |
ORPHA:83617 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia |
ORPHA:91351 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Ring Chromosome 10 Syndrome |
|
Short neck, Sandal gap, Tapered finger |
ORPHA:1438 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Arachnodactyly, Overgrowth, Joint hypermobility |
OMIM:219100 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... |
OMIM:184705 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small hand, Clinodactyly, Recurrent otitis media, Short foot, Scoliosis |
ORPHA:96184 |
| Cockayne Syndrome Type 2 |
|
Scarring, Enamel hypoplasia, Flexion contracture, Scoliosis, Kyphosis |
ORPHA:90322 |
| 2P15P16.1 Microdeletion Syndrome |
|
Toe clinodactyly, Sandal gap, Camptodactyly of finger, Inguinal hernia, Bilateral single transver... |
ORPHA:261349 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypophosphatemia, Hypouricemia |
OMIM:616026 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed epiphyseal ossification, Broad thu... |
OMIM:101200 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Enamel hypoplasia, Hip dysplasia, Clinodacty... |
OMIM:619293 |
| Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Failure to thrive, Dehydration |
ORPHA:92050 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Increased susceptibility to fractures, Attention deficit hyperactivity disord... |
ORPHA:216866 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hemivertebrae |
ORPHA:77298 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Talipes equinovarus, Congenital contracture |
OMIM:619036 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Umbilical hernia, Atrophic scars, Hiatus hernia, Arachnodactyly, Distal arthrogryposis, Scarring,... |
OMIM:601776 |
| Cerebellofaciodental Syndrome |
|
Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Single transverse palmar crease,... |
OMIM:616202 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Low-set ears, Clinodactyly, Hypoplasia of the ulna, Microtia |
ORPHA:357175 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... |
OMIM:266200 |
| Kabuki Syndrome |
|
Short 5th finger, Small hand, Abnormal form of the vertebral bodies, Short middle phalanx of fing... |
ORPHA:2322 |
| Galloway-Mowat Syndrome 3 |
|
Camptodactyly, Arachnodactyly, Hiatus hernia, Hip dislocation |
OMIM:617729 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Small hand, Hip dysplasia, Tapered finger |
OMIM:618672 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Single transverse palmar crease, Postaxial polydactyly, Palmopl... |
OMIM:617527 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Inguinal hernia, Joint contracture, ... |
OMIM:609029 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... |
OMIM:620609 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Pleural effusion, Pulmonary arterial hypertension, Hypercholesterolemia, Ortho... |
OMIM:606721 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tall stature, Joint hypermobility, Arachnodactyly, Cr... |
ORPHA:60030 |
| Lassa Fever |
|
Facial edema, Menometrorrhagia, Oliguria, Shock, Dysphagia, Back pain |
ORPHA:99824 |
| Distal Deletion 10Q |
|
Low-set ears, 2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, C... |
ORPHA:96148 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Aplastic clavicle, Delayed cranial suture closure, Abnormal dental enam... |
ORPHA:85199 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Tapered finger |
ORPHA:171829 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Slender finger, Atypical scarring of skin, Atrophic scars, Talipes equinovarus, Long fingers, Cam... |
OMIM:618343 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C... |
OMIM:618223 |
| Papillon-Lefèvre Syndrome |
|
Arachnodactyly, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Cigarette-paper scars |
ORPHA:678 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Single transverse palmar crease, 2-3 toe syndactyly, Scoliosis, Kyphosis |
OMIM:616449 |
| Noonan Syndrome 13 |
|
Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Limited elbow extension, Cub... |
OMIM:619087 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Single transverse palmar crease, Hip dysplasia, Bilateral talipes equinovarus, C... |
OMIM:617807 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi... |
OMIM:307800 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Chromosome 9P Deletion Syndrome |
|
Sandal gap, Dermatoglyphic variants, Inguinal hernia, Clinodactyly of the 5th toe, Short neck, Lo... |
OMIM:158170 |
| Marfan Syndrome |
|
Osteopenia, Slender build, Protrusio acetabuli, Reduced bone mineral density, Spondylolisthesis, ... |
ORPHA:558 |
| Alpha-Mannosidosis, Infantile Form |
|
Hepatosplenomegaly, Pancytopenia, Genu valgum, Mitral regurgitation, Short neck, Bilateral coxa v... |
ORPHA:309282 |
| Foxp1 Syndrome |
|
Hypoplastic helices, Clinodactyly, Prominent fingertip pads, Recurrent otitis media, Single trans... |
ORPHA:391372 |
| Loeys-Dietz Syndrome 1 |
|
Spondylolisthesis, Inguinal hernia, Supernumerary ribs, Arachnodactyly, Talipes equinovarus, Post... |
OMIM:609192 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Disproportionate tall stature, Spondylolisthesis, Absent distal ph... |
OMIM:610168 |
| Hereditary Angioedema Type 1 |
|
Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina... |
ORPHA:100050 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Low-set ears, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Brac... |
OMIM:618529 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Triphalang... |
ORPHA:2232 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... |
OMIM:617052 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu valgum, Cubitus valgus, Hallux va... |
OMIM:620072 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Low-set ears, Clinodactyly, Slender long bone, Lumbar hyperlordosis, Increased vertebral height, ... |
OMIM:613385 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, D... |
ORPHA:42 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Abnormal thumb morphology, Inguinal hernia |
ORPHA:2719 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Low-set ears, Clinodactyly, Hypoplasia of the ulna, Microtia |
OMIM:615162 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Camptodactyly, Joint hypermobility |
OMIM:617333 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Low-set ears, Clinodactyly, Short neck, Metaphyseal dysplasia, Scoliosis, Posteriorly rotated ear... |
OMIM:618336 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Long fingers, Large hands, Craniosynostosis, Scoliosis |
OMIM:613174 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Failure to thrive, Abnormal lymphocyte morphology, Hyponatremia, Severe B lymphocyto... |
ORPHA:293978 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Multiple rib fractures, Femur fracture, Osteop... |
OMIM:612301 |
| Autosomal Dominant Robinow Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Camptodactyly of finger, Finger syndact... |
ORPHA:3107 |
| You-Hoover-Fong Syndrome |
|
Brachydactyly, Hearing impairment, Clinodactyly, Kyphoscoliosis |
OMIM:616954 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, EEG with burst s... |
ORPHA:171929 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar... |
OMIM:618569 |
| Infantile Liver Failure Syndrome 1 |
|
Long toe, Long fingers |
OMIM:615438 |
| Suleiman-El-Hattab Syndrome |
|
Low-set ears, Hearing impairment, Clinodactyly, Overfolded helix, Single transverse palmar crease... |
OMIM:618950 |
| Mucolipidosis Type Ii |
|
Kyphosis, Limitation of joint mobility, Limited wrist movement, Umbilical hernia, Decreased movem... |
ORPHA:576 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Myhre Syndrome |
|
Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Shor... |
OMIM:139210 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Scoliosis, Kyphosis, Joint hypermobility |
ORPHA:364028 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Broad distal phalanx of finger, Prominent crus of helix, Elbow flexion contracture, Hypoplasia of... |
OMIM:619194 |
| Cog1-Cdg |
|
Posterior rib gap, Osteopenia, Rhizomelia, Butterfly vertebrae, Kyphoscoliosis, Vertebral segment... |
ORPHA:263508 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Clinodactyly, Overlapping t... |
OMIM:154400 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae |
ORPHA:1780 |
| Cowden Syndrome 5 |
|
Palmoplantar hyperkeratosis, Scoliosis, Kyphosis, Subcutaneous lipoma |
OMIM:615108 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Prominent metopic ridge, Postaxial polydactyly, Sacral dimple, Tapered finger |
OMIM:613792 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Camptodactyly, Scoliosis, Clinodactyly, Tapered finger |
OMIM:619576 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Craniofacial hyperostosis, Platyspondyly, Abnormal epiphy... |
ORPHA:2588 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Prominent fingertip pads, Clinodactyly of the 4th finger, 2-3 toe syndactyly, H... |
ORPHA:485405 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Clinodactyly, Talipes equinovarus, Short neck, Macrotia |
OMIM:616789 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Crumpled ear, Symphalangism of the thumb, Cupped ear, Hearing impairment, Short toe, Clinodactyly... |
OMIM:620494 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Hemivertebrae, Postaxial hand polydactyly |
OMIM:264480 |
| Ring Chromosome 12 Syndrome |
|
Low-set ears, Symphalangism of the thumb, Clinodactyly, Lumbar hyperlordosis, Abnormal 5th finger... |
ORPHA:1439 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Proximal femoral epiphysiolysis, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:162300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Contracture of the proximal interphal... |
OMIM:300998 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Congestive heart failure, Failure to ... |
OMIM:242840 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Slender finger, Flexion contracture, Adducted thumb |
OMIM:300243 |
| Van Maldergem Syndrome 2 |
|
Cutaneous syndactyly of toes, Conductive hearing impairment, Atresia of the external auditory can... |
OMIM:615546 |
| Van Maldergem Syndrome 1 |
|
Conductive hearing impairment, Atresia of the external auditory canal, Clinodactyly, Cutaneous fi... |
OMIM:601390 |
| Marshall Syndrome |
|
Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ... |
OMIM:154780 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Talipes equinovarus, Abnormal fibula morphology, Hemivertebrae, Absent... |
ORPHA:93929 |
| Sandifer Syndrome |
|
Anemia, Hematemesis, Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Arachnodactyly, Curved middle phalanx of the 4th toe, Joint hypermobility |
ORPHA:276413 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Persistence of hemoglobin F, Recurrent hand flapping, Anterior concavity... |
OMIM:617101 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Cystic Fibrosis |
|
Failure to thrive, Dehydration, Hepatosplenomegaly, Hypercalciuria, Male infertility, Clubbing of... |
OMIM:219700 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Sensorineural hearing impairment, Kyphoscoliosis, Talipes equinovarus, Brachydactyl... |
ORPHA:397709 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp... |
ORPHA:50945 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Ritscher-Schinzel Syndrome 4 |
|
Narrow palm, Joint hypermobility, Limited knee extension, Ulnar deviation of the hand, Hip dyspla... |
OMIM:619435 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, Cone-shaped epip... |
OMIM:266920 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad thumb, Short thumb, Cervical spinal canal stenosis, Broad hallux, Short neck, Hip dysplasia... |
OMIM:620224 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... |
OMIM:255120 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Radioulnar dislocation, Kyphoscoliosis, Bifid distal phalanx of t... |
ORPHA:97360 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Kyphosis, Ankle clonus |
ORPHA:88644 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Short neck, Acute myeloid leuke... |
ORPHA:124 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Osteopenia, Kyphosis, Truncal obesity |
OMIM:610489 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hyperbilirubinemia, Hip contracture, Bowing... |
OMIM:210710 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Hypotension, Decreased cervical spine mobility, Abnormal digit morphology, Polydactyl... |
ORPHA:95494 |
| Vipoma |
|
Ascites, Normochromic anemia, Hypokalemia, Weight loss, Anorexia, Hypercalcemia, Dehydration |
ORPHA:97282 |
| Ruijs-Aalfs Syndrome |
|
Clinodactyly, Elbow flexion contracture, Single transverse palmar crease, Down-sloping shoulders,... |
OMIM:616200 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Umbilical hernia, Inguinal hernia, Sin... |
OMIM:601358 |
| Cowden Syndrome 6 |
|
Palmoplantar hyperkeratosis, Scoliosis, Kyphosis, Subcutaneous lipoma |
OMIM:615109 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Multifocal epileptiform discharges, Anteverted ears, Clinodactyly, Syndactyly |
OMIM:618087 |
| Prader-Willi Syndrome |
|
Osteopenia, Small hand, Clinodactyly, Radial deviation of finger, Genu valgum, Narrow palm, Hip d... |
OMIM:176270 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Proximal placement of thumb, Preaxial hand polydactyly |
OMIM:610536 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Lower limb undergrowth, J... |
ORPHA:96201 |
| Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Recurrent urinary t... |
ORPHA:2968 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Abnormal hip bone morphology, Joint hypermobility, Camptodactyly of toe, Truncal obesi... |
ORPHA:127 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Low-set ears, Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Hypo... |
OMIM:614813 |
| 7Q11.23 Microduplication Syndrome |
|
Tracheomalacia, Obesity, Single transverse palmar crease, Joint hypermobility, Cubitus valgus, Sh... |
ORPHA:96121 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bilateral talipes equinovarus, Overlapping fingers, Kyphosis, Knee flexion contracture |
OMIM:619708 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Short thumb, Clinodactyly, Radial deviation of finger, Overlapping to... |
OMIM:613406 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Recurrent urinary tract infections, Joint stiffness, Abnormal hemoglobin... |
ORPHA:847 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Prominent protruding coccyx, Joint hypermobility, Short neck, Prominent coccyx, Talip... |
OMIM:300966 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Failure to thrive, Ly... |
OMIM:102700 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Cohen-Gibson Syndrome |
|
Osteopenia, Broad thumb, Flared metaphysis, Tall stature, Hypoplastic iliac wing, Joint hypermobi... |
OMIM:617561 |
| 16Q24.3 Microdeletion Syndrome |
|
Hip dysplasia, Scoliosis, Kyphosis, Proximal placement of thumb |
ORPHA:261250 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Broad thumb, Clinodactyly, Long hallux, Hallux valgus, Macrotia |
OMIM:620194 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Abnormal form of the vertebral bodies, Hypoplasia of the radius, Hemiverte... |
ORPHA:3412 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Acute kidney injury, Shock, Hyperammonemia, Thrombocyto... |
ORPHA:90062 |
| W Syndrome |
|
Clinodactyly, Radial bowing, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu... |
ORPHA:2804 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Microtia, first degree, Broad thumb, Clinodactyly, Prominent finge... |
OMIM:305450 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Trisomy 17P |
|
Short neck, Clinodactyly of the 5th finger, Flexion contracture, Scoliosis, Tapered finger |
ORPHA:261290 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Short neck, Hypoplasia of the radius, Fused cerv... |
OMIM:609053 |
| Methylcobalamin Deficiency Type Cble |
|
Scoliosis, Hearing impairment, Clinodactyly, Syndactyly |
ORPHA:2169 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Osteopenia, Slender long bone, Delayed cranial suture closure, Umbili... |
OMIM:278250 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapular winging, Overwe... |
OMIM:617796 |
| Oculodentodigital Dysplasia |
|
Optic atrophy, Toe syndactyly, Conductive hearing impairment, Abnormal form of the vertebral bodi... |
ORPHA:2710 |
| Traboulsi Syndrome |
|
Broad hallux, Short finger, Joint hypermobility, Arachnodactyly, Cubitus valgus |
OMIM:601552 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly, Congenital sensorineural hearing impai... |
ORPHA:73272 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Kyphosis, Hand muscle atrophy, Ankle clonus |
OMIM:211530 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Alg12-Cdg |
|
Sandal gap, Overlapping fingers, Talipes equinovarus, Long fingers, Short long bone, Camptodactyl... |
ORPHA:79324 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Optic atrophy, Short distal phalanx of finger, Hearing impairment, Clinodactyly, Br... |
OMIM:614261 |
| Orofaciodigital Syndrome Vi |
|
Low-set ears, Toe syndactyly, Conductive hearing impairment, Clinodactyly, Radial deviation of fi... |
OMIM:277170 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Sclerosis of skull base, Increased intervertebral space, Diaph... |
OMIM:619727 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Poikilocytosis, Unconjugated hyperbilirubinemia, Osteopenia, Purple ur... |
ORPHA:79277 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Absent radius, Sho... |
OMIM:263650 |
| Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Clinodactyly, Posteriorly rotated ears, 3-4 finger cutaneous syndac... |
OMIM:164220 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Hyperextensible hand joints, Broad palm, ... |
OMIM:227330 |
| Rett Syndrome, Congenital Variant |
|
Talipes equinovarus, Scoliosis, Kyphosis |
OMIM:613454 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hemivertebrae |
OMIM:620331 |
| Mend Syndrome |
|
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers... |
OMIM:300960 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... |
ORPHA:822 |
| Alkuraya-Kucinskas Syndrome |
|
Low-set ears, Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinov... |
OMIM:617822 |
| Tarp Syndrome |
|
Low-set ears, Optic atrophy, Prominent antihelix, Clinodactyly, Single transverse palmar crease, ... |
OMIM:311900 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
| Coffin-Lowry Syndrome |
|
Bifid sternum, Inguinal hernia, Uterine prolapse, Single transverse palmar crease, Lumbar kyphosi... |
OMIM:303600 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Flexion contracture, Short foot, Scoliosis, ... |
ORPHA:398069 |
| 22Q11.2 Deletion Syndrome |
|
Multiple suture craniosynostosis, Obesity, Joint hypermobility, Arachnodactyly, Talipes equinovar... |
ORPHA:567 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Nizon-Isidor Syndrome |
|
Thoracolumbar kyphosis, Prominent fingertip pads, Long fingers |
OMIM:618872 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodact... |
ORPHA:373 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Tapered finger |
OMIM:181600 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Slender finger, Tibial torsion, Talipes equinovarus, Long toe, Long fingers, Scoliosis |
OMIM:613355 |
| Duane Retraction Syndrome |
|
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Talipes equinovarus, Short neck... |
ORPHA:233 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Contractures of the large joints, Short neck, Long fingers, Clinodacty... |
ORPHA:96092 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Flexion contracture, Tapered finger |
OMIM:613870 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Tongue thrusting |
OMIM:608643 |
| Mgat2-Cdg |
|
Osteopenia, Brachydactyly, Scoliosis, Kyphosis |
ORPHA:79329 |
| Mogs-Cdg |
|
Optic atrophy, Overlapping fingers, Sensorineural hearing impairment, Thoracic scoliosis, Absent ... |
ORPHA:79330 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Foot joint contracture, Abnormal hallu... |
ORPHA:456312 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal |
OMIM:600430 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Hypotension, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Osteoporosis of ... |
ORPHA:90695 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Broad distal phalanx of finger, Long fingers, Joint hypermobility |
ORPHA:363686 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ... |
OMIM:201750 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Clinodactyly, Ectrodactyly, Sensorineural hearing impairment |
OMIM:147950 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly |
OMIM:119580 |
| 20Q13.33 Microdeletion Syndrome |
|
Talipes equinovarus, Hallux valgus, Abnormal limb bone morphology, Short lower limbs, Hip disloca... |
ORPHA:261311 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Wormian bones, Fused cervical vertebrae, Flat acetabular roof, Short femoral nec... |
OMIM:617159 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... |
ORPHA:288 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Low-set ears, Cupped ear, Clinodactyly, Down-sloping shoulders, Scapular winging, Mixed hearing i... |
OMIM:615560 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Urinary incontinence, Dysphagia, Titubation, Abnormal posturing |
ORPHA:225147 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Axillary pterygium, Toe clinodactyly, Lumbar hyperlordosis, Limited elbow extension, Inguinal her... |
OMIM:620450 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Congenital diaphragmatic hernia, Foot polydactyly, Short metacarpal, Inguinal her... |
OMIM:305600 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat... |
OMIM:619351 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Inguinal hernia, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered ... |
ORPHA:544488 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone... |
ORPHA:1422 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Clinodactyly of the 5th finger, Tracheomalacia, Kyphosis |
ORPHA:1393 |
| Bohring-Opitz Syndrome |
|
Short toe, Dislocated radial head, Overlapping toe, Mesomelic/rhizomelic limb shortening, Tapered... |
OMIM:605039 |
| Developmental And Epileptic Encephalopathy 2 |
|
Small hand, Short foot, Scoliosis, Tapered finger |
OMIM:300672 |
| Yellow Fever |
|
Acute kidney injury, Anuria, Shock, Reduced left ventricular ejection fraction, Leukocytosis, Ren... |
ORPHA:99829 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cupped ear, Clinodactyly, EEG with spike-wave complexes, EEG with polyspike wave complexes, Agang... |
ORPHA:247262 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Hiatus hernia, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology |
OMIM:601162 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Short neck, Brachydactyly, Short palm, Proximal placement of thumb, Abnormal pinna ... |
OMIM:217980 |
| Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Hemivertebrae, Scoliosis, Proximal placement of thumb |
OMIM:304050 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Slender long bone, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis, Arach... |
ORPHA:500150 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Hypereosinophilia, Failure to thrive, Angioedema |
OMIM:256500 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Cardiomegaly, Hepatom... |
ORPHA:465508 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Tarp Syndrome |
|
Optic atrophy, Prominent antihelix, Hearing impairment, Finger syndactyly, Clinodactyly, Low-set,... |
ORPHA:2886 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... |
ORPHA:99867 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Umbilical hernia, Joint stiffness, Abnormal cortical bone morpholo... |
ORPHA:93 |
| Cowden Syndrome 1 |
|
Palmoplantar hyperkeratosis, Scoliosis, Kyphosis, Subcutaneous lipoma |
OMIM:158350 |
| Takenouchi-Kosaki Syndrome |
|
Clinodactyly, Overlapping toe, Inguinal hernia, Tapered finger, Camptodactyly, Scoliosis, Proxima... |
OMIM:616737 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Broad hall... |
ORPHA:251071 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Joint hypermobility, Madelung deformity, Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:301111 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Broad ribs, Genu valgum, Limited elbow extension, Broad long bone diaphyses, Ta... |
OMIM:301066 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Fusion of middle ear ossicles, Carpal synostosis, Congenital diaphragmatic... |
OMIM:157800 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Short toe, Delayed ossification of carpal bones, Tapered finger |
OMIM:239300 |
| Micro Syndrome |
|
Joint stiffness, Scoliosis, Kyphosis |
ORPHA:2510 |
| Ohdo Syndrome, X-Linked |
|
Low-set ears, Hearing impairment, Clinodactyly, Short thumb, Overlapping toe, Long thumb, Ulnar d... |
OMIM:300895 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Clinodactyly, Kyphosis, Sacral dimple |
OMIM:620185 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... |
OMIM:617247 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Broad thumb, Prominent fingertip pads, Single transverse palmar crease, Joint hypermobility, Broa... |
OMIM:617804 |
| Radio-Tartaglia Syndrome |
|
Obesity, Scoliosis, Brachydactyly, Tapered finger |
OMIM:619312 |
| X-Linked Intellectual Disability, Pai Type |
|
Inguinal hernia, Tapered finger |
ORPHA:85322 |
| Xylt1-Cdg |
|
Broad thumb, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone, Short femoral nec... |
ORPHA:370930 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Inguinal hernia, Proximal pl... |
OMIM:613458 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low-set ears, Clinodactyly, Overfolded helix, Camptodactyly, Spina bifida occulta, Scoliosis, Pos... |
OMIM:617360 |
| Hamamy Syndrome |
|
Osteopenia, Neck pterygia, Clinodactyly of the 5th finger, Down-sloping shoulders, Long toe, Tape... |
OMIM:611174 |
| Lissencephaly 6 With Microcephaly |
|
Single transverse palmar crease, Tapered finger |
OMIM:616212 |
| Digeorge Syndrome |
|
Umbilical hernia, Inguinal hernia, Intervertebral disk degeneration, Pilonidal sinus, Patellar di... |
OMIM:188400 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Short toe, Abnormality of the cervical spine, Flexion contracture of f... |
ORPHA:464311 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Hiatus hernia, Talipes equinovarus... |
OMIM:251300 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Elbow dislocation, Umbilical hernia, Abnormality of the wrist, Cystoce... |
ORPHA:285 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Clinodactyly of the 5th finger, Umbilical hernia |
OMIM:618971 |
| Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Pseudoepiphyses of the metacarpals, Abnormal form of the vertebral bodies, Short... |
OMIM:194190 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly |
OMIM:614838 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Small hand, Limitation of joint mobility, Slender finger,... |
ORPHA:480880 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Scoliosis, Tapered finger |
OMIM:601353 |
| Smith-Lemli-Opitz Syndrome |
|
Hip dislocation, Aplasia/Hypoplasia of the radius, Rhizomelia, Abnormal form of the vertebral bod... |
ORPHA:818 |
| Insulin-Like Growth Factor I, Resistance To |
|
Low-set ears, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Sho... |
OMIM:270450 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones |
OMIM:616831 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Scoliosis, Kyphosis, Increased femoral anteversion |
OMIM:619005 |
| Meier-Gorlin Syndrome 5 |
|
Low-set ears, Clinodactyly, Elbow dislocation, Slender long bone, Hypoplasia of the capital femor... |
OMIM:613805 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Mesomelia, Polysyndactyly of hallux, Platyspondyly, Postaxial polysyndactyly of foot, Preaxial ha... |
OMIM:263520 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, 2-4 finger syndactyly, Short clavicles, 2-5 finger cutaneous synd... |
OMIM:617746 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Scoliosis, Tape... |
ORPHA:1236 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Tapered finger, Hip dysplasia, Umbilical hernia |
OMIM:616977 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Brachydactyly |
OMIM:618727 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Scoliosis, Hip dislocation, Sacral ... |
OMIM:300968 |
| 3Mc Syndrome 3 |
|
Clinodactyly, Hearing impairment, Preaxial polydactyly, Auricular pit, Radioulnar synostosis, Abn... |
OMIM:248340 |
| Deeah Syndrome |
|
Delayed skeletal maturation, Overlapping fingers, Short neck, C1-C2 subluxation, Cervical hemiver... |
OMIM:619004 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Low-set ears, Acromesomelia, Clinodactyly, Recurrent otitis media, Short proximal phalanx of the ... |
ORPHA:261323 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... |
OMIM:608836 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Supernumerary metacarpal bones, Polydactyly affecting... |
ORPHA:672 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi... |
OMIM:617137 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce... |
OMIM:620306 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Broad thumb, Toe syndactyly, Single transverse palmar crease, Joint hypermobility, Flexion contra... |
OMIM:619720 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Arachnodactyly, Bowing of the long bones, Scarr... |
OMIM:614437 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Sh... |
ORPHA:206436 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
2-3 toe cutaneous syndactyly, Short neck, Long fingers, Down-sloping shoulders |
OMIM:301091 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Sirenomelia, Clinodactyly of the 5th finger, Lu... |
ORPHA:79500 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Tapered finger, Short finger |
ORPHA:1867 |
| Ring Chromosome 7 Syndrome |
|
Short 5th finger, Slender finger, Small hand, 3-4 toe syndactyly, Genu valgum, Single transverse ... |
ORPHA:1449 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Bone cyst, Brachydactyly, Lipoma, Scoliosis, Kyphosis |
ORPHA:201 |
| Viss Syndrome |
|
Hip dislocation, Umbilical hernia, Genu valgum, Butterfly vertebrae, Inguinal hernia, Contracture... |
OMIM:619472 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Square pelvis bone, Ivory epiphyses... |
OMIM:216400 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Limited elbow movement, Short neck, Short foot, Short metacarpal, Syndactyly,... |
OMIM:261540 |
| Brain-Lung-Thyroid Syndrome |
|
Failure to thrive, Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking... |
ORPHA:209905 |
| Apert Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae fusion, Vert... |
ORPHA:87 |
| Peho Syndrome |
|
Tapered finger |
OMIM:260565 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Broad thumb, Thumb contracture, Joint contracture of the 5th finger, Duplication of phalanx of ha... |
ORPHA:324540 |
| Diphallia |
|
Absent thumb, Butterfly vertebrae, Hemivertebrae, Scoliosis, Abnormal pubic bone morphology |
ORPHA:227 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Aplasia of the right hemidiaphragm... |
OMIM:619841 |
| Aymé-Gripp Syndrome |
|
Reduced arm span, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary ribs, Radioulna... |
ORPHA:1272 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae |
OMIM:619227 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis, Omphalocele |
OMIM:182210 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity, Brachydactyly, Tapered finger |
OMIM:619680 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Brachydactyly, Clinodactyly |
OMIM:618048 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Square pelvis bone, Ivory epiphyses... |
OMIM:133540 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae |
OMIM:612852 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Areflexia of upper limbs, Anteriorly placed odontoid... |
ORPHA:268882 |
| Aspartylglucosaminuria |
|
Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Hernia... |
OMIM:208400 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, A... |
OMIM:216340 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Osteopenia, Flexion contracture, Kyphosis |
OMIM:212065 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Radiou... |
OMIM:192350 |
| Pitt-Hopkins Syndrome |
|
Small hand, Finger clinodactyly, Single transverse palmar crease, Hiatus hernia, Short neck, Broa... |
ORPHA:2896 |
| Proteus Syndrome |
|
Rib exostoses, Finger syndactyly, Abnormal metacarpal morphology, Calvarial hyperostosis, Abnorma... |
ORPHA:744 |
| Incontinentia Pigmenti |
|
Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618829 |
| Tbck-Related Intellectual Disability Syndrome |
|
EEG with generalized epileptiform discharges, Clinodactyly, Sensorineural hearing impairment, 2-3... |
ORPHA:488632 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly |
OMIM:603585 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Congestive heart failure, Hy... |
ORPHA:14 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Obesity, Hyperuricemia, Polydactyly, Truncal obesity, Hy... |
OMIM:203800 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Palpitations, Anorexia, Heart murmur, Tricuspid stenosis |
ORPHA:100079 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Slender long bone, Inguinal hernia, Single transverse palmar crease, Shor... |
ORPHA:444072 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Tapered finger, Short neck, Kyphoscoliosis |
OMIM:615803 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Atypical sca... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Atypical sca... |
ORPHA:99228 |
| Monosomy X |
|
Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Atypical sca... |
ORPHA:99226 |
| Turner Syndrome |
|
Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morphology, Osteopenia, Atypical sca... |
ORPHA:881 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Overlapping toe, Distally placed thumb, Single transverse palmar crease, Talipes equ... |
OMIM:619148 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... |
ORPHA:90321 |
| Chromosome 15Q25 Deletion Syndrome |
|
Short neck, Inguinal hernia, Congenital diaphragmatic hernia, Long fingers |
OMIM:614294 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pectoralis hypoplasia, Talipes equinovarus, Tapered finger, Flexion contracture, Scoliosis, Spina... |
OMIM:254940 |
| Nablus Mask-Like Facial Syndrome |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Sandal gap, Single transverse palmar c... |
OMIM:608156 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Slender finger, Clinodactyly, Radial deviation of finger, Obesity, Genu valgum, Kyphoscoliosis, T... |
OMIM:309580 |
| Fanconi Anemia, Complementation Group S |
|
Proximal placement of thumb, Clinodactyly |
OMIM:617883 |
| Short Syndrome |
|
Low-set ears, Clinodactyly, Slender long bone, Radial deviation of finger, Sensorineural hearing ... |
OMIM:269880 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:308552 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Hepatomegaly |
ORPHA:667 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Overgrowth, Large for gestational age, Tapered finger |
ORPHA:261652 |
| Distal Xq28 Microduplication Syndrome |
|
Microtia, Clinodactyly, Metatarsus adductus, Absent antihelix |
ORPHA:293939 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger |
OMIM:612949 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Slender finger, Hip subluxation, Elbow flexion contracture, Internally rotated shoulders, Hyperex... |
OMIM:619503 |
| Coffin-Siris Syndrome 1 |
|
Prominent fingertip pads, Sandal gap, Umbilical hernia, Clinodactyly of the 5th finger, Short dis... |
OMIM:135900 |
| Neurofibromatosis Type 1 |
|
Osteopenia, Slender long bone, Abnormal hip bone morphology, Genu valgum, Recurrent fractures, Jo... |
ORPHA:636 |
| Plague |
|
Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Arthritis, Anorexia, Tachycardia, Edema |
ORPHA:707 |
| Oculodentodigital Dysplasia |
|
Hip dislocation, Conductive hearing impairment, Clinodactyly, 3-4 toe syndactyly, Joint contractu... |
OMIM:164200 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Tapered finger |
OMIM:620070 |
| Lymphedema-Distichiasis Syndrome |
|
Cellulitis, Kyphosis |
OMIM:153400 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Abnormal vertebral morphology, Clinodactyly of the 5th finger, Short thumb, Tapered finger |
OMIM:616728 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, Tibial torsion, Overlapping toe, Obesity, 2-3 toe syndactyly, Acc... |
OMIM:618653 |
| Periventricular Nodular Heterotopia 9 |
|
Clinodactyly, Prominent fingertip pads, Squared superior portion of helix, Single transverse palm... |
OMIM:618918 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Tapered finger |
ORPHA:401777 |
| 19P13.13 Microdeletion Syndrome |
|
Low-set ears, Optic atrophy, Clinodactyly, Sandal gap, Long fingers, Macrotia, Optic nerve hypopl... |
ORPHA:357001 |
| Immunodeficiency 59 And Hypoglycemia |
|
Slender finger |
OMIM:233600 |
| Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Scoliosis, Kyphosis |
OMIM:266270 |
| Turnpenny-Fry Syndrome |
|
Small hand, Clinodactyly, Lumbar hyperlordosis, Overlapping toe, Short sternum, Prominent interph... |
OMIM:618371 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... |
OMIM:301044 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
| Acromegaly |
|
Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... |
ORPHA:963 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Short neck, Long fingers |
OMIM:156610 |
| Somatomammotropinoma |
|
Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... |
ORPHA:314769 |
| Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Ridged cranial sutures, Delayed cranial suture closure,... |
OMIM:619325 |
| Cronkhite-Canada Syndrome |
|
Tapered finger |
ORPHA:2930 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ... |
ORPHA:2273 |
| 8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Congenital hip dislocation, Micromelia, Finger clinodactyly, Cervical ribs, Cli... |
ORPHA:508488 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Oeis Complex |
|
Congenital hip dislocation, Absence of the sacrum, Talipes equinovarus, Hemivertebrae, Sacral seg... |
OMIM:258040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Kyphoscoliosis, Joint hy... |
OMIM:300967 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Overlapping toe, Clinodactyly of the 4th finger, Short neck, Brachydact... |
ORPHA:177907 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Preaxial hand po... |
OMIM:200990 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Small hand, Short phalanx of finger, Broad finger |
OMIM:300845 |
| Wiedemann-Steiner Syndrome |
|
Rhizomelia, Clinodactyly, Tapered finger, Aplasia/Hypoplasia of the ribs, Abnormality of the hand... |
ORPHA:319182 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hearing impairment, Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contract... |
OMIM:602782 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Scoliosis, Narrow joint ... |
ORPHA:96182 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Ventric... |
OMIM:614921 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Long fingers, Bilateral talipes equi... |
OMIM:619512 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Knee flexion contr... |
OMIM:606170 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Mesomelia, Clinodactyly, Rhiz... |
OMIM:180700 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, 11 pairs of ribs, Clinodactyly of the 5t... |
ORPHA:1606 |
| Galloway-Mowat Syndrome 4 |
|
Tapered finger |
OMIM:617730 |
| Developmental And Epileptic Encephalopathy 80 |
|
Short distal phalanx of finger, Talipes equinovarus, Triphalangeal thumb, Tapered finger |
OMIM:618580 |
| Primrose Syndrome |
|
Short distal phalanx of finger, Calcification of the auricular cartilage, Genu valgum, Hip contra... |
OMIM:259050 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Mosaic Trisomy 16 |
|
Short forearm, Hearing impairment, Clinodactyly, Short thumb, Single transverse palmar crease, Ab... |
ORPHA:1708 |
| Charge Syndrome |
|
Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Hemivertebrae, Clinodactyly o... |
ORPHA:138 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Goldberg-Shprintzen Syndrome |
|
Small hand, Short neck, Clinodactyly of the 5th finger, Increased femoral anteversion, Tapered fi... |
OMIM:609460 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Short finger, Clinodactyly of the 5th finger, Inguinal hernia, Single transverse ... |
ORPHA:459070 |
| Aicardi Syndrome |
|
Block vertebrae, Small hand, Butterfly vertebrae, Hip dysplasia, Scoliosis |
ORPHA:50 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Toe syndac... |
OMIM:256520 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Clinodactyly, Overlapping toe, Inguinal hernia, Tapered finger, Camptodactyly, Flexion contractur... |
ORPHA:487796 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Low-set ears, Optic atrophy, Ulnar deviation of finger, Hearing impairment, Clinodactyly, Sandal ... |
OMIM:618164 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Abnormality of t... |
ORPHA:521445 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, 2-4 toe cutaneous syndactyly, Inguinal hernia, Abnormal toe morphology, Polydactyl... |
ORPHA:268261 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Ulnar deviation ... |
ORPHA:261537 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Alagille Syndrome 1 |
|
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae |
OMIM:118450 |
| Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Bicarbonaturia |
OMIM:229600 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Rhizomelia, Hearing impairment, Clinodactyly, Single transverse palmar crease, Roun... |
OMIM:614114 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limitation of joint mobility, Tapered fi... |
ORPHA:2836 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Elbow flexion contracture, Clubbi... |
OMIM:256040 |
| Holoprosencephaly 13, X-Linked |
|
Butterfly vertebrae, Vertebral clefting, Thoracic hemivertebrae |
OMIM:301043 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Hypoplastic ilia, Clinodactyly, Slender long bone, Absence of subcutaneous fat, Reduce... |
OMIM:264090 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Toe syndactyly, Cupped ear, Conductive hearing impairment, Finger syndactyly, Clino... |
ORPHA:2363 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 2nd finger, Talipes equinovarus, Ulnar deviation of the 3rd finger, Long f... |
OMIM:616263 |
| Gabriele-De Vries Syndrome |
|
Sandal gap, Distal arthrogryposis, Hallux valgus, Long fingers, Patellar dislocation, Finger join... |
OMIM:617557 |
| Toluene Embryopathy |
|
Tapered finger |
ORPHA:1920 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Congenital Myopathy 17 |
|
Low-set ears, Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Tapered finger |
OMIM:618975 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Obesity, Genu valg... |
OMIM:615873 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Low-set ears, Clinodactyly, Abnormal hand morphology, Genu valgum, Abnormal thumb morphology, Abn... |
ORPHA:101000 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Obesity, Brachydactyly, Tracheomalacia |
OMIM:616368 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Dehydration, Joint hypermobility |
ORPHA:96191 |
| Toriello-Carey Syndrome |
|
Low-set ears, Hearing impairment, Clinodactyly, Anotia, Aganglionic megacolon, Short neck, Brachy... |
ORPHA:3338 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Down Syndrome |
|
Atlantoaxial instability, Conductive hearing impairment, Shallow acetabular fossae, Clinodactyly,... |
OMIM:190685 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Ankle clonus |
ORPHA:171629 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent fingertip pads, Reduced subcutaneous adipose tissue, Short neck, Hyperlordosis, Long fi... |
OMIM:619950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Optic atrophy, Small hand, Cupped ear, Hearing impairment, Clinodactyly, Overlappin... |
OMIM:309590 |
| Rhombencephalosynapsis |
|
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly |
ORPHA:59315 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Low-set ears, Short distal phalanx of finger, Posteriorly rotated ears, Clinodactyly |
OMIM:615866 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Limb joint contracture, Flexion contracture, Scoliosis, Tapered finger |
OMIM:301072 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad thumb, Umbilical hernia, Talipes equinovarus, Short palm, Tapered finger |
OMIM:614501 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Ulnar deviation ... |
ORPHA:261552 |
| Cranioectodermal Dysplasia 1 |
|
Low-set ears, Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviati... |
OMIM:218330 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Sensorineural hearing impairment, Postaxial polydactyly, Scoliosis, Sacral dimple |
OMIM:618460 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Increased subcutaneous truncal adipose tissue, Camptodactyly of finger, Loss of... |
ORPHA:3455 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Hand monodactyly, Down-sloping shoulders, Hand polydactyly, Abnormal pa... |
OMIM:214800 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Decreased skull ossification, Aplasia of the distal ... |
ORPHA:3472 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Talipes equinovarus, Sacral dimple, Tapered finger |
OMIM:613603 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Osteolysis, ... |
ORPHA:97685 |
| Joubert Syndrome 1 |
|
Low-set ears, Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Postaxial hand polyd... |
OMIM:213300 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
2-3 toe syndactyly, Short neck, Long fingers, Clinodactyly of the 5th finger, Short palm, Tapered... |
OMIM:616734 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Dihydropyrimidinase Deficiency |
|
Talipes equinovarus, Short phalanx of finger |
OMIM:222748 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Camptodactyly of toe, Scoliosis, Sacral dimple, Tapered ... |
ORPHA:261337 |
| Pmm2-Cdg |
|
Impaired neutrophil chemotaxis, Nephrotic syndrome, Osteopenia, Lymphedema, Hypertrophic cardiomy... |
ORPHA:79318 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Coronal craniosynostosis, Failure to thrive, Tricu... |
OMIM:612289 |
| 6Q Terminal Deletion Syndrome |
|
Clinodactyly, Low-set, posteriorly rotated ears, Short neck, Hallux valgus, Hypsarrhythmia, Scoli... |
ORPHA:75857 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Faundes-Banka Syndrome |
|
Lumbar hemivertebrae, Joint hypermobility, Flexion contracture of toe |
OMIM:619376 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, 11 pairs of ribs, Absence of subcutaneous fat, Hip dysplasia, Tapered finger |
OMIM:620005 |
| Chromosome 17Q12 Deletion Syndrome |
|
Upper limb undergrowth, Long toe, Long fingers, Short foot, Scoliosis, Short palm |
OMIM:614527 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Proportionate shortening of all digits, Short neck, Tapered finger, Brachydactyly, Sh... |
ORPHA:280633 |
| Williams Syndrome |
|
Synostosis of joints, Genu valgum, Radioulnar synostosis, Patellar dislocation, Osteopenia, Ingui... |
ORPHA:904 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Conductive hearing impairment, Clinodactyly, Broad 2nd toe, Clinod... |
OMIM:280000 |
| Isolated Posterior Meningocele |
|
Thoracic hemivertebrae |
ORPHA:268810 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly, Sensorineural hearing impairment |
OMIM:616541 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Progressive sensorineural hearing impairme... |
OMIM:620186 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Stippled calcification of ... |
ORPHA:51608 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Hearing impairment, Clinodactyly, Radial deviation of finger, Polydactyly, Brachyda... |
OMIM:311200 |
| Floating-Harbor Syndrome |
|
Low-set ears, Conductive hearing impairment, Clinodactyly, Short thumb, Avascular necrosis of the... |
ORPHA:2044 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Low-set, posteriorly rotated ears, Camptodactyly, Clinodactyly |
ORPHA:228426 |
| Cockayne Syndrome |
|
Congenital contracture, Contractures of the large joints, Abnormal epiphysis morphology, Reduced ... |
ORPHA:191 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Scoliosis, Kyphosis, Enamel hypoplasia |
ORPHA:90324 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Branchiooculofacial Syndrome |
|
Atypical scarring of skin, Short thumb, Fusion of middle ear ossicles, Elbow flexion contracture,... |
OMIM:113620 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Clinodactyly, Broad hallux, 2-3 toe syndac... |
OMIM:614188 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal metaphysis morphology, Tapered finger |
ORPHA:86818 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Obesity... |
ORPHA:444077 |
| Maternal Phenylketonuria |
|
Hypoplastic helices, Bifid distal phalanx of the thumb, Brachydactyly, Clinodactyly |
ORPHA:2209 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip ... |
ORPHA:821 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Scoliosis, Hearing impairment, Clinodactyly |
ORPHA:1199 |
| Cranioectodermal Dysplasia 2 |
|
Low-set ears, Rhizomelia, Clinodactyly, Polydactyly, Simple ear, Short neck, Brachydactyly, Posta... |
OMIM:613610 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Osteomyelitis, Genu valgum, Tapered distal phalanges of finger, Single transverse palmar crease, ... |
OMIM:619475 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi... |
OMIM:619991 |
| Pallister-Killian Syndrome |
|
Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Congenital diaphragmatic ... |
OMIM:601803 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly... |
OMIM:249000 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Scoliosis, Hearing impairment, Clinodactyly |
ORPHA:1465 |
| Microphthalmia, Syndromic 1 |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Optic disc coloboma, Clinodactyl... |
OMIM:309800 |
| Unilateral Polymicrogyria |
|
Epistaxis, Abnormal posturing, Pseudobulbar paralysis |
ORPHA:268943 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Noonan Syndrome 1 |
|
Low-set ears, Hearing impairment, Clinodactyly, Radial deviation of finger, Sensorineural hearing... |
OMIM:163950 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hand clenching, Limited elbow extension, Narrow palm, Joint hypermobility, Adducted thumb, Tapere... |
OMIM:616973 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Sandal gap, Umbilical hernia, Short neck, Cutaneous syndactyly, Long fingers |
OMIM:620330 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:365 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Hearing impairment, Clinodactyly, Otitis media, Single transverse palmar crease, Sen... |
OMIM:612541 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Genu valgum, Partial duplication of thumb phalanx, Hemivertebrae, Scoliosis, Ver... |
OMIM:164210 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra... |
OMIM:620376 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short 5th finger, Short thumb, Short finger, Single transverse palmar crease, Joint hypermobility... |
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 |
|
Low-set ears, Camptodactyly, Posteriorly rotated ears, Clinodactyly |
OMIM:619343 |
| Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexi... |
OMIM:268300 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger |
OMIM:601088 |
| Neuroocular Syndrome 1 |
|
Prominent fingertip pads, Tibial torsion, Umbilical hernia, Tapered finger, Deep palmar crease, S... |
OMIM:619539 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Scoliosis, Tapered finger |
OMIM:619480 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Tapered finger, Short humerus, Short femur |
OMIM:618367 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Brachydactyly, Shortening of all ph... |
OMIM:211380 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Tapered finger |
OMIM:617330 |
| Mowat-Wilson Syndrome |
|
Broad hallux, Genu valgum, Long toe, Hallux valgus, Syndactyly, Ulnar deviation of the hand, Addu... |
ORPHA:2152 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Alström Syndrome |
|
Short toe, Short finger, Dorsocervical fat pad, Thoracic scoliosis, Lumbar scoliosis, Hyperostosi... |
ORPHA:64 |
