| Pseudoachondroplasia |
|
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... |
ORPHA:750 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Tall stature, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth f... |
OMIM:615923 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Parastremmatic Dwarfism |
|
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck |
OMIM:168400 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... |
OMIM:617719 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... |
OMIM:617974 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... |
ORPHA:93351 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... |
OMIM:177170 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... |
ORPHA:968 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Increased arm span, Scoliosis, Disproportionate tall stature, Arachnodactyly |
OMIM:618793 |
| Winchester Syndrome |
|
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis... |
OMIM:277950 |
| Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... |
ORPHA:2114 |
| Sillence Syndrome |
|
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... |
ORPHA:3168 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia |
OMIM:606996 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Clinodactyly of the 5th finger, Kyphosis, Camptodactyly, Short thumb, Overlapping toe |
OMIM:618453 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... |
ORPHA:2777 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... |
ORPHA:3246 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse... |
ORPHA:93311 |
| Brachyolmia Type 1, Hobaek Type |
|
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Short iliac bones, Sclerotic foci of ... |
OMIM:271530 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Ovoid ... |
OMIM:184255 |
| Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... |
OMIM:600593 |
| Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu... |
OMIM:256100 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... |
ORPHA:93360 |
| Alpha-2-Deficient Collagen Disease |
|
Arachnodactyly, Disproportionate tall stature |
OMIM:203760 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... |
ORPHA:163665 |
| Leri-Weill Dyschondrosteosis |
|
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... |
OMIM:127300 |
| Nephronophthisis 9 |
|
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... |
OMIM:182255 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... |
OMIM:102510 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Tall stature, Shoulder dislocation, Scoliosis, Kyphosis, Arachnodactyly, Disproportionate tall st... |
ORPHA:2181 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Kyphosis, Sh... |
OMIM:618392 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Scoliosis, Thoracic ... |
OMIM:609223 |
| Tempi Syndrome |
|
Abnormality of the kidney, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiec... |
ORPHA:284227 |
| Metatropic Dysplasia |
|
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... |
OMIM:156530 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... |
OMIM:609616 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... |
OMIM:614135 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Arachnodactyly, Long toe, Large hands, Thoracic kyphosis |
OMIM:300263 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... |
OMIM:263400 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Scoliosis, Slender finger, Joint stiffness, Camptodactyly of finger... |
ORPHA:916 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... |
OMIM:113000 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... |
ORPHA:1570 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Cone-shaped epiphyses of th... |
OMIM:184252 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Arachnodactyly, Disproportionate tall stature, Thoracic kyphosis |
ORPHA:2172 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... |
ORPHA:93314 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Haim-Munk Syndrome |
|
Arachnodactyly, Congenital palmoplantar hyperkeratosis, Osteolytic defects of the phalanges of th... |
OMIM:245010 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... |
OMIM:616583 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Bilateral single transverse palmar creases, Scoliosis, Kyphosis, Joint stiffness, Delayed skeleta... |
ORPHA:1548 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spinal Dysplasia, Anhalt Type |
|
Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he... |
OMIM:601344 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
|
Arachnodactyly, Disproportionate tall stature, Joint contracture of the 5th finger |
OMIM:300799 |
| Radial Hemimelia |
|
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... |
ORPHA:93321 |
| Autosomal Dominant Brachyolmia |
|
Abnormal metaphysis morphology, Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... |
ORPHA:1802 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Scoliosis, Joint contracture, Kyphosis, Ankle clonus |
OMIM:611225 |
| Bethlem Myopathy 2 |
|
Distal joint hypermobility, Scoliosis, Atrophic scars, Scapular winging, Kyphosis, Flexion contra... |
OMIM:616471 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... |
ORPHA:85198 |
| Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... |
OMIM:606966 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... |
OMIM:609052 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... |
ORPHA:1836 |
| Eiken Syndrome |
|
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... |
ORPHA:79106 |
| Brachydactyly, Type A1, B |
|
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... |
OMIM:607004 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... |
ORPHA:1436 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... |
OMIM:618728 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia, Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia,... |
ORPHA:223 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Scoliosis, Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction ve... |
OMIM:601382 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Protruding ... |
OMIM:610313 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Joint ... |
OMIM:618395 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... |
ORPHA:337 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... |
ORPHA:2619 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration... |
ORPHA:411634 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... |
OMIM:250460 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... |
ORPHA:2632 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... |
ORPHA:2635 |
| Brachyolmia Type 1, Toledo Type |
|
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... |
OMIM:271630 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... |
ORPHA:429 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... |
OMIM:604864 |
| Boudin-Mortier Syndrome |
|
Pseudoepiphysis of the 1st metacarpal, Tall stature, Pseudoepiphyses of the proximal phalanges of... |
OMIM:619543 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Platyspondyly, Metaphyseal cupping, Bowing of the long bones, Hypopla... |
ORPHA:85166 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... |
OMIM:613330 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... |
OMIM:226900 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... |
ORPHA:2501 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... |
OMIM:184260 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con... |
OMIM:313420 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... |
OMIM:271650 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... |
OMIM:612925 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... |
OMIM:612924 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
| Progressive Pseudorheumatoid Dysplasia |
|
Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints... |
OMIM:208230 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Scoliosis, Split hand, Tapered finger |
OMIM:220600 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch |
OMIM:271620 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Atrophic scars, Sc... |
OMIM:130060 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis |
OMIM:616963 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Scoliosis, Elbow flexion contracture, Hyperlordosis, Kyphosis, Hip contracture, Knee flexion cont... |
OMIM:600175 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... |
OMIM:612926 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... |
OMIM:226980 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... |
ORPHA:166024 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Myocardial infarction, Increased red blood cell count, El... |
ORPHA:90041 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Kyphoscoliosis, Genu valgum, Small epiphyses, Inguinal hernia, Scoliosis... |
OMIM:618363 |
| Acute Adrenal Insufficiency |
|
Anorexia, Renal salt wasting, Normocytic anemia, Hyperkalemia, Orthostatic hypotension, Hyperuric... |
ORPHA:95409 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... |
OMIM:618435 |
| Primary Basilar Invagination |
|
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine |
ORPHA:2285 |
| Acromicric Dysplasia |
|
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... |
OMIM:102370 |
| Mass Syndrome |
|
Arachnodactyly, Scoliosis, Disproportionate tall stature |
OMIM:604308 |
| Senior-Loken Syndrome 1 |
|
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi... |
OMIM:266900 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Pulmonary arterial hypertension, Hyperechogen... |
OMIM:613845 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Elongated femoral neck, Glenoid fossa hypoplasia, Hypoplastic iliac wing, Scoliosis, Hemivertebra... |
OMIM:619345 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... |
ORPHA:93284 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... |
ORPHA:239 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... |
OMIM:607078 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the ... |
ORPHA:99642 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... |
ORPHA:1159 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... |
ORPHA:3098 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Scoliosis, Bowing of the long bones, Thickened cortex of long bo... |
ORPHA:53697 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology, Hypovolemia |
ORPHA:2290 |
| Bruck Syndrome 1 |
|
Ankle flexion contracture, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion contracture, Ky... |
OMIM:259450 |
| Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Diastrophic Dysplasia |
|
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor... |
OMIM:222600 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... |
OMIM:614851 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... |
ORPHA:93346 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... |
ORPHA:2790 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... |
OMIM:156510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Hip dislocation, Short foot, Talipes equinovarus, Small hand |
OMIM:300434 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney disease, Re... |
OMIM:619468 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... |
ORPHA:2064 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... |
ORPHA:3104 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Scoliosis, Wormian bones, Kyphosis, Decreased calvarial ossification, Multip... |
OMIM:259440 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Tall stature, Thoracolumbar kyphosis |
OMIM:236660 |
| Bruck Syndrome |
|
Pterygium, Scoliosis, Wormian bones, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stif... |
ORPHA:2771 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S... |
OMIM:618167 |
| Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... |
OMIM:184400 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Abnormal blood ion concentration, Hypokalemia, Hypocalcemi... |
ORPHA:31824 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... |
OMIM:610017 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger... |
OMIM:610967 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp... |
OMIM:112350 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect |
OMIM:608681 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Kypho... |
OMIM:618658 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... |
OMIM:271700 |
| Ullrich Congenital Muscular Dystrophy |
|
Spinal rigidity, Adducted thumb, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, ... |
ORPHA:75840 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Split f... |
OMIM:183600 |
| Familial Hypoaldosteronism |
|
Renal salt wasting, Orthostatic hypotension, Hypotension, Hypovolemia, Proximal renal tubular aci... |
ORPHA:427 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Reduced bone mineral density, Globa... |
ORPHA:47159 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Tapered finger, Easily subluxated... |
OMIM:311895 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Lumbar scoliosis, Joint hypermobil... |
OMIM:620269 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Hypospadias, Anemia of inadequate production, Persistence of hemoglob... |
OMIM:613673 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis, Upper limb amyotrophy, Talipes equinovarus |
OMIM:617087 |
| Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Inguinal hernia, Scoliosis, Short metacarpal, Kyphosis... |
OMIM:180870 |
| Brachydactyly, Type A1 |
|
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... |
OMIM:112500 |
| Cystinosis |
|
Rickets, Polydipsia, Hypokalemia, Nephropathy, Dehydration, Portal hypertension, Failure to thriv... |
ORPHA:213 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Scoliosis, Low-set ears, Vertebral clefting, Long fingers, Long hallux, Posteriorl... |
OMIM:616803 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos... |
OMIM:620639 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... |
ORPHA:1856 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Ver... |
ORPHA:2631 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short ribs, Microme... |
OMIM:215045 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... |
OMIM:251450 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... |
OMIM:600384 |
| Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Umbilical hernia, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Sy... |
OMIM:600325 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Overgrowth, Pro... |
OMIM:619721 |
| Leri Pleonosteosis |
|
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ... |
ORPHA:2900 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger, Arachnodactyly |
ORPHA:1883 |
| Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Genu valgum, Scoliosis, Metaphyseal wideni... |
OMIM:265900 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... |
OMIM:156500 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marr... |
ORPHA:275761 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... |
ORPHA:628 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp... |
OMIM:612847 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of joint mobi... |
ORPHA:3454 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Osteochondrosis, Abnormal vertebral morphology, Hamstring contractures, Elbow ank... |
ORPHA:96183 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,... |
OMIM:607326 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... |
OMIM:184253 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... |
ORPHA:168549 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Contractural Arachnodactyly, Congenital |
|
Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee e... |
OMIM:121050 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... |
OMIM:618469 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... |
ORPHA:1426 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Dehydration, Urogenital sinus ano... |
ORPHA:168558 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Shortening of all middle phalanges of the fingers, Scoliosis, Kyp... |
OMIM:301900 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Craniosynostosis, Large joint dislocations, Finger syndactyly, Sc... |
ORPHA:503 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger... |
OMIM:619489 |
| Steel Syndrome |
|
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Scoliosis, Coxa ... |
OMIM:615155 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Marburg Hemorrhagic Fever |
|
Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir... |
ORPHA:99826 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Acromesomelic Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... |
OMIM:602875 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Dehydration, Urogenital sinus ano... |
ORPHA:289548 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... |
ORPHA:1952 |
| Hall-Riggs Syndrome |
|
Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Metaphyseal dysplasia, Brachydactyly, Irreg... |
OMIM:234250 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility |
OMIM:618323 |
| Avascular Necrosis Of Femoral Head, Primary, 2 |
|
Platyspondyly, Avascular necrosis of the capital femoral epiphysis |
OMIM:617383 |
| Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... |
ORPHA:50809 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky... |
OMIM:300718 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Scoliosis, Congenital contracture, Joint stiffness, Camptodactyly of f... |
ORPHA:115 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Joint stiffness, Arachnodactyly |
ORPHA:1144 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Tapered finger, Short foot |
OMIM:309585 |
| Anauxetic Dysplasia 1 |
|
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Joint hype... |
OMIM:607095 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly |
ORPHA:2956 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... |
OMIM:620386 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Anauxetic Dysplasia 2 |
|
Cubitus valgus, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplas... |
OMIM:617396 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... |
ORPHA:166011 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... |
OMIM:250420 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Hyperlordosis, Flat acetab... |
OMIM:615222 |
| Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal tubular atrop... |
OMIM:613550 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... |
OMIM:612350 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Polydipsia, Irregular menstruation, Truncal obesity, Postaxial hand polydactyly, Pol... |
OMIM:615986 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis |
OMIM:143880 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... |
ORPHA:93356 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... |
ORPHA:976 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, 11 pairs of ribs, Kyphosis, Camptodactyly, Short neck, Arthrogryposis multipl... |
OMIM:618393 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Scoliosis, Short long bone, Split han... |
OMIM:252600 |
| Arthrogryposis, Distal, Type 5 |
|
Scoliosis, Absent phalangeal crease, Kyphosis, Congenital finger flexion contractures, Decreased ... |
OMIM:108145 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Tall stature, Increased vertebral height, Scoliosis, Wide femoral metaphysis, Camptodactyly, Camp... |
OMIM:610474 |
| Renal Hypoplasia |
|
Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract ... |
ORPHA:93101 |
| Masa Syndrome |
|
Adducted thumb, Hyperlordosis, Kyphosis, Talipes equinovarus |
OMIM:303350 |
| Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Flat acetabular roof, Bowi... |
ORPHA:1801 |
| Schneckenbecken Dysplasia |
|
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Bi... |
OMIM:269250 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Micromelia, Up... |
ORPHA:64755 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Scoliosis, Kyphosis, Brachydactyly, Hip dysplasia, Short distal phalanx o... |
ORPHA:1858 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... |
ORPHA:1837 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... |
ORPHA:83468 |
| Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Abnormal form of t... |
ORPHA:263463 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis, Obesity, Large hands, Tapered finger |
ORPHA:276630 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Anemia, Cardiomyopathy, Dehydration, Hyperammonemia, Failure to thrive, Thrombocytopeni... |
ORPHA:79312 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar ... |
OMIM:609128 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... |
ORPHA:90650 |
| Kuskokwim Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella, Scoliosis, Joint stiffn... |
ORPHA:1149 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal metaphysis morphology, Osteopenia, Flat capital femoral epiphysis, Broad femoral neck, F... |
ORPHA:157965 |
| Mucolipidosis Type Iii |
|
Reduced bone mineral density, Abnormal hip bone morphology, Inguinal hernia, Abnormal form of the... |
ORPHA:577 |
| Central Diabetes Insipidus |
|
Polydipsia, Anorexia, Dehydration, Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, Limitation of joint m... |
OMIM:313400 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium w... |
ORPHA:18 |
| Otospondylomegaepiphyseal Dysplasia |
|
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... |
ORPHA:1427 |
| 49,Xyyyy Syndrome |
|
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Scoliosis, Bridged... |
ORPHA:99330 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis |
OMIM:617404 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Arachnodactyly, Disproportionate ta... |
OMIM:609008 |
| Stickler Syndrome, Type I |
|
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe... |
OMIM:108300 |
| Cystinosis, Nephropathic |
|
Polydipsia, Generalized aminoaciduria, Renal Fanconi syndrome, Dysphagia, Splenomegaly, Hypophosp... |
OMIM:219800 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Polydipsia, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst,... |
OMIM:615994 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Erdheim-Chester Disease |
|
Abnormal metaphysis morphology, Polydipsia, Congestive heart failure, Anemia, Increased bone mine... |
ORPHA:35687 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Hypertension, Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chro... |
OMIM:248250 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... |
OMIM:611717 |
| Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... |
ORPHA:321 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Polyuria, Calcinosis, Anemia, Hypercalciuria, Hyperphosphaturia, Failure to thrive, H... |
OMIM:239200 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Reticulocytosis, Arrhythmia, Thrombocytopenia, Proteinuria, Micro... |
ORPHA:54057 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Cone-shaped epiphysis, Osteoporosis, Dentinogenesis imperfecta |
ORPHA:71267 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Ar... |
ORPHA:2994 |
| Hypophosphatasia, Infantile |
|
Short ribs, Elevated urine pyrophosphate, Short lower limbs, Nephrocalcinosis, Craniosynostosis, ... |
OMIM:241500 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Scoliosis, Kyphosis, Flexion contracture, Short neck, Arthrogryp... |
ORPHA:178148 |
| Cocaine Intoxication |
|
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki... |
ORPHA:90068 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... |
ORPHA:370010 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Join... |
ORPHA:93352 |
| Brachyolmia Type 3 |
|
Radial deviation of finger, Scoliosis, Kyphosis, Short femoral neck, Platyspondyly, Short neck, P... |
OMIM:113500 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Scapular winging, Six lumbar vertebrae, Supernumerary ribs, Joint hypermobility |
OMIM:619122 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytop... |
ORPHA:98850 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib... |
ORPHA:2759 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... |
OMIM:215150 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Craniosynostosis, Oligodactyly, Arachnodactyly |
OMIM:614416 |
| Mucopolysaccharidosis, Type Iva |
|
Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobility, Coxa valga, Ce... |
OMIM:253000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Hip contracture, Achilles tendon contractur... |
OMIM:615290 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of... |
OMIM:151200 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... |
OMIM:614078 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Clinodactyly of the 5th finger, Sandal gap, Slender finger, Broad hallux, Overlapping toe, Small ... |
OMIM:617755 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconca... |
OMIM:259420 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancytopenia, Hyperglyc... |
OMIM:606054 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Wormian bones, Femoral bowing, Thoracic kyphosis, Broad thumb, ... |
OMIM:619638 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... |
OMIM:615008 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency |
ORPHA:28 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... |
OMIM:176240 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo... |
OMIM:618019 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth... |
OMIM:601356 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Flexion contracture of finger... |
OMIM:618484 |
| Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Femoral bowing, Short metacarpal, Kyphosis, Decreased skull ossification, Multiple... |
OMIM:610915 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Biconcave vertebral bodies, Multiple prenat... |
OMIM:301014 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... |
ORPHA:457395 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... |
OMIM:602111 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Congenital finger flexion contractures, Bilateral talipes equinovarus, Joint stiffness, Arachnoda... |
ORPHA:1154 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Kyphosis, Flexion contracture o... |
OMIM:619040 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormality of cranial sutures, Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/... |
ORPHA:163649 |
| Osteogenesis Imperfecta, Type Xxii |
|
Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Multiple... |
OMIM:619795 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Palmoplantar cutis gyrata, Atrophic scars, Arachnodactyly, Flexion contracture, L... |
ORPHA:75496 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia |
OMIM:620007 |
| Cdkl5-Deficiency Disorder |
|
Broad proximal phalanges of the hand, Hallux valgus, Scoliosis, Kyphosis |
ORPHA:505652 |
| Poems Syndrome |
|
Erectile dysfunction, Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Sclerosis of ... |
ORPHA:2905 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Clinodactyly, Thoracic kyphosis, Syndactyly |
OMIM:619092 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh... |
OMIM:256050 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Polyuria, Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic dia... |
OMIM:620152 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele |
ORPHA:85174 |
| Hyperekplexia 4 |
|
Kyphoscoliosis, Inguinal hernia, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbil... |
OMIM:618011 |
| Juberg-Hayward Syndrome |
|
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... |
OMIM:216100 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Arachnodactyly, Disproportionate tall stature, Brachydactyly,... |
ORPHA:776 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion |
OMIM:122600 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Scoliosis, Kyphosis, Hearing im... |
ORPHA:101075 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Achondroplasia |
|
Narrow greater sciatic notch, Cervical spinal canal stenosis, Short proximal phalanx of finger, L... |
ORPHA:15 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation |
ORPHA:171719 |
| Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Platyspondyly, Wide di... |
OMIM:614856 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ingu... |
ORPHA:137834 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short neck, Abnormal vertebral morphology |
ORPHA:2015 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting |
OMIM:618314 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... |
ORPHA:64754 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Platyspondyly, Reduced bone mineral ... |
ORPHA:582 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Tall stature, Abnormal ovarian physiology, Elevated urinary epinephrine level, Hypernatriuria, Pr... |
ORPHA:90794 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Lower-limb joint contracture, Dehydration, Abnormality of the upper ur... |
ORPHA:99885 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Distal Duplication 18Q |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Deviation of finger, ... |
ORPHA:1716 |
| Distal Duplication 15Q |
|
Tall stature, Joint stiffness, Camptodactyly of finger, 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 |
|
Talipes equinovarus, Scoliosis, Kyphosis, Lumbar hyperlordosis, Hip dislocation |
OMIM:616756 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology |
ORPHA:93283 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... |
ORPHA:93388 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Short foot,... |
OMIM:300977 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... |
OMIM:259600 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Broad thumb, B... |
ORPHA:3433 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis |
OMIM:184840 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Congenital bilateral hip dislo... |
ORPHA:536516 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand |
OMIM:300577 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femoral head, Sho... |
OMIM:619598 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Femur fracture, Sacral dimple, Spina bifida occulta, Single transverse palmar crease, Scoliosis, ... |
OMIM:618291 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Kyp... |
ORPHA:93316 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... |
OMIM:271600 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Generalized lipodystrophy, Cubitus valgus, Metaphyseal striations, Conge... |
OMIM:608154 |
| Arthrogryposis, Distal, Type 3 |
|
Kyphoscoliosis, Single transverse palmar crease, Scoliosis, Ulnar deviation of the hand or of fin... |
OMIM:114300 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de... |
OMIM:619636 |
| Tarsal-Carpal Coalition Syndrome |
|
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... |
OMIM:186570 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared me... |
OMIM:615349 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... |
ORPHA:2319 |
| Snakebite Envenomation |
|
Acute kidney injury, Neuromuscular dysphagia, Cerebral ischemia, Hypotension, Angioedema, Hyponat... |
ORPHA:449285 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Short palm, Short neck, Failure to thrive, Dysphagia, Platyspondyly, Toe syndactyly,... |
OMIM:618958 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... |
OMIM:616723 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger |
OMIM:302000 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Scoliosis, Kyphosis, Hand clenching, Hip dys... |
OMIM:611890 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Inguinal hernia, Abnormal vertebral ... |
ORPHA:3121 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2050 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... |
ORPHA:319675 |
| Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... |
ORPHA:3409 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Abnormal bone ossification, Vertebral compression fracture, Abnormal... |
ORPHA:2078 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Short 5th toe, Patellar hypoplasia, Short 2nd toe, Cuboid-shaped vertebral bodies, Camptodactyly ... |
ORPHA:1326 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation |
OMIM:614100 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Congestive heart failure, Palpitations, Hyperactivity, Neutropenia in presence of ant... |
ORPHA:525731 |
| Epiphyseal Dysplasia, Baumann Type |
|
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... |
OMIM:610797 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, ... |
OMIM:271520 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Senior-Boichis Syndrome |
|
Polydipsia, Tubular luminal dilatation, Hypertension, Ascites, Abnormal renal insterstitial morph... |
ORPHA:84081 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly |
OMIM:300337 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint subluxation, Hyperextensibility of the finger joints, Atrophic scars, Hyperlordosis, Scolio... |
OMIM:617821 |
| Czech Dysplasia |
|
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... |
OMIM:609162 |
| Whipple Disease |
|
Polydipsia, Anorexia, Gastrointestinal hemorrhage, Myocarditis, Anemia, Erectile dysfunction, Ped... |
ORPHA:3452 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Scoliosis, Camptodactyly, Arachnodactyly, Disproportionate tall stature, Joint hypermobility, Abd... |
OMIM:301039 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, ... |
ORPHA:2916 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Hemivertebrae, Unilateral oligodactyly, Syndactyly, Unilateral brac... |
OMIM:173800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... |
OMIM:614723 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... |
OMIM:105835 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Kyphoscoliosis, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Short palm, Limitation of joint mobility, Coxa vara |
ORPHA:168555 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... |
OMIM:263750 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Kyphoscoliosis, Osteopenia, Atrophic scars, Elevated circulating creatine kinase concentration, D... |
ORPHA:300179 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Sandal gap, Micromelia, Arachnodactyly, Obesity, Joint hypermobility |
ORPHA:1035 |
| Type 1 Diabetes Mellitus |
|
Polyuria |
OMIM:222100 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Abnormal digit morphology,... |
OMIM:300831 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis, Deformed humeral h... |
ORPHA:2831 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... |
ORPHA:94068 |
| Desbuquois Dysplasia 2 |
|
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Joint hypermobility, Genu v... |
OMIM:615777 |
| O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Kyphosis |
OMIM:618512 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Dehydration, Pulmonic steno... |
ORPHA:79159 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... |
OMIM:144750 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... |
OMIM:108721 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Hyperlordosis, Abnormal epiphysis mor... |
ORPHA:970 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Long fingers, Clinodactyly of the 5th finger, Short hallux |
OMIM:620393 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor... |
OMIM:184095 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Kyphosis, Multiple lipomas, Lipodystrophy, Talipes equinovarus |
OMIM:151800 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Pla... |
OMIM:184100 |
| Sheldon-Hall Syndrome |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol... |
ORPHA:1147 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta... |
OMIM:271510 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyposthe... |
OMIM:241200 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Arachnodactyly, Scoliosis, Hemivertebrae |
ORPHA:370079 |
| Oligomeganephronia |
|
Polydipsia, Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased... |
ORPHA:2260 |
| Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Joint hypermobility, Coxa valga... |
OMIM:253010 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Genu valgum, Irregular femoral epiphysis, Vertebral wedging |
OMIM:255710 |
| Kniest Dysplasia |
|
Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Umbilical he... |
OMIM:156550 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Hyperextensibility of the finger joints, Scoliosis, Broad thumb, Arachnodactyly, T... |
ORPHA:505237 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Polyuria, Proximal tubulopathy, Dehydration, Osteoporosis, Failure to thrive |
OMIM:560000 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... |
OMIM:174000 |
| Relapsing Fever |
|
Acute kidney injury, Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:91547 |
| Pde4D Haploinsufficiency Syndrome |
|
Caudal interpedicular narrowing, Short metatarsal, Hypospadias, Upper limb undergrowth, Bilateral... |
ORPHA:439822 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Wormian... |
OMIM:610968 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypokalemia, Hypercalciuria, Dehydration, Failure to thrive, Nephrocalcinosis, Distal re... |
OMIM:602722 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Vertebral compression fracture, Joint hypermobility, Delayed epiphy... |
OMIM:602557 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... |
OMIM:178110 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Arachnodactyly, Scoliosis |
OMIM:301006 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Kyphoscoliosis, Amelogenesis imperfecta, Diaphyseal dysplasia, Elevated circulating creatine kina... |
OMIM:614727 |
| Osteootohepatoenteric Syndrome |
|
Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Dehyd... |
OMIM:619377 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Hypotensi... |
OMIM:607364 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Obesity, Kyphosis |
ORPHA:261222 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Cervical ins... |
OMIM:617425 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w... |
OMIM:230650 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| 3M Syndrome |
|
Rocker bottom foot, Hyperlordosis, Kyphosis, Hypoplastic pelvis, Hypoplastic ischia, Joint hyperm... |
ORPHA:2616 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Joint stiffness, Abnormal cartilage morphology, Multiple enchondr... |
ORPHA:296 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Macrocytic anemia, Cardiomyopathy, Dehydration, Hyperammonemia, Thrombocytopenia, Leukope... |
ORPHA:27 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Flared metaphysis, Calcific stippling of infant... |
OMIM:215100 |
| Clark-Baraitser syndrome |
|
Genu valgum, Genu recurvatum, Scoliosis, Kyphosis, Short palm, Joint hypermobility, Broad palm, T... |
OMIM:300602 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the humeroulnar joint, Obesi... |
ORPHA:2234 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Renal tubular acidosis, Dehydration, Oligohydramnios, Failure to thriv... |
OMIM:208085 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Arachnodactyly, Scoliosis, Clinodactyly of the 5th finger |
OMIM:619910 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu... |
ORPHA:93160 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyse... |
OMIM:241530 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hypermobility, Cubitus valgus, Kyphosis |
ORPHA:1875 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, Brachydactyly... |
OMIM:614613 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo... |
OMIM:300653 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Kyphoscoliosis, Tall stature, Scoliosis, Limitation of joint mobility, Osteoporosis, Generalized ... |
OMIM:236200 |
| Carpenter Syndrome |
|
Polydactyly, Kyphoscoliosis, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand pol... |
ORPHA:65759 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Narrow palm, Thoracic hemivertebrae, Syndactyly, Fused thoracic vertebrae, Clinodactyl... |
ORPHA:1445 |
| Gitelman Syndrome |
|
Polydipsia, Polyuria, Prolonged QT interval, Hypokalemia, Hypocalciuria, Renal potassium wasting,... |
OMIM:263800 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... |
OMIM:190351 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Reduced bone mineral density, Scoliosis, Vertebral segmentation defect, Kyphosis, Sh... |
ORPHA:2617 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short long bon... |
OMIM:618961 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation... |
ORPHA:1323 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Arachnodactyly, Scoliosis |
ORPHA:171844 |
| Fryns-Smeets-Thiry Syndrome |
|
Scoliosis, Arachnodactyly, Disproportionate tall stature, Patellar aplasia, Hip dislocation |
ORPHA:2058 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Short palm,... |
ORPHA:85172 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hypermobility, Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Recurrent fractures |
OMIM:126550 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Spondylolysis, Short metacarpal, Dislocated wrist, Joint hy... |
OMIM:150250 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Scoliosis... |
OMIM:252605 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... |
ORPHA:340 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Epiphyseal dysplasia, Metaph... |
ORPHA:319195 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... |
OMIM:212780 |
| 16P13.11 Microduplication Syndrome |
|
Joint hypermobility, Craniosynostosis, Hand polydactyly, Arachnodactyly |
ORPHA:261243 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Osteoporosis, Recurrent fractures, Vertebral compression fracture |
ORPHA:85193 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Scoliosis, Split hand, Ky... |
ORPHA:392 |
| Reticular Dysgenesis |
|
Anemia, Dehydration, Failure to thrive, Leukopenia, Weight loss, Abnormality of neutrophils |
ORPHA:33355 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Tapered finger |
ORPHA:85274 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck... |
OMIM:244600 |
| Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age, Large hands, Joint hypermobility, Tapered finger, Short 5th metacarpal |
OMIM:102150 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... |
ORPHA:93307 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Adducted thumb, Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus ... |
ORPHA:562528 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Methylmalonic acidemia, Dehydration, Failure to thrive, Dicarboxylic acide... |
ORPHA:289504 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| 2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenching, Long fingers... |
ORPHA:1617 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyposthenuria, Incre... |
OMIM:601678 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Kyphoscoliosis, Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Sensorineura... |
OMIM:601455 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Kyphos... |
ORPHA:3082 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion |
OMIM:618845 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Agitation, Hyperuricemia, Hypertension, Dehydration, Leukocytosis, Hypotension, Hyperam... |
ORPHA:134 |
| 2Q32Q33 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Broad thumb, Arachnodactyly, Toe clinodactyly, Joint hypermobilit... |
ORPHA:251019 |
| Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Myocarditis, Pulmonary edema, Pleural effusion, Leukocytosis, H... |
ORPHA:188 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Joint hypermobility, Arachnodactyly, Scoliosis, Tall stature |
OMIM:129600 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... |
OMIM:147750 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:36913 |
| Dent Disease 1 |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... |
OMIM:300009 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, Osteoporosis, Abnormal... |
ORPHA:48431 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Inguinal hernia, Abnorm... |
ORPHA:2311 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... |
OMIM:620662 |
| Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Sandal gap, Scoliosis, Camptodactyly, Arachnodactyly, Flexion contracture, Hip dysplasia, Talipes... |
OMIM:617146 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Disproportionate tall stature |
OMIM:616166 |
| Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Osteopenia, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of t... |
OMIM:102500 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperglycinemia, Cerebellar hemorrhage, Methylmalonic acidemia, Cardiomyopathy, Dehydration, Hype... |
OMIM:251000 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Joint stiffness, Ovo... |
ORPHA:583 |
| Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis... |
OMIM:166220 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... |
OMIM:143095 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Broad palm, Short finger, ... |
OMIM:300232 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting, Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hy... |
OMIM:203400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Obesity, Brachydactyly |
ORPHA:2180 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Polydipsia, Low-molecular-weight proteinuria, Hypokalemia, Dehydration, Hyperphosphaturi... |
ORPHA:411629 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Low-set ears, 2-3 toe syndactyly, Posteriorly rotated ears, Clinodactyly |
OMIM:619311 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... |
ORPHA:85167 |
| Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Beaking of vertebral bodies, Genu valgum, Generalized bone demineralization, Vert... |
ORPHA:3101 |
| Chronic Hiccup |
|
Abnormal eating behavior, Weight loss, Dehydration |
ORPHA:396 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Decreased skull ossification, Abnorm... |
ORPHA:93267 |
| Proximal Symphalangism |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... |
ORPHA:3250 |
| Joint Laxity, Short Stature, And Myopia |
|
Kyphoscoliosis, Multiple joint dislocation, Inguinal hernia, Umbilical hernia, Joint hypermobilit... |
OMIM:617662 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Whistling Face Syndrome, Recessive Form |
|
Kyphoscoliosis, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Camptod... |
OMIM:277720 |
| Osteogenesis Imperfecta, Type Xxi |
|
Scoliosis, Osteoporosis, Coxa vara, Bowing of the arm, Platyspondyly, Joint hypermobility, Bowing... |
OMIM:619131 |
| Ck Syndrome |
|
Kyphoscoliosis, Slender build, Long fingers, Joint hypermobility, Long toe, Lumbar hyperlordosis |
ORPHA:251383 |
| Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee... |
OMIM:609220 |
| Cardiospondylocarpofacial Syndrome |
|
Short palm, Synostosis of carpal bones, Brachydactyly, Abnormal form of the vertebral bodies |
ORPHA:3238 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria, Hypertension |
OMIM:613677 |
| Ochoa Syndrome |
|
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... |
ORPHA:2704 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
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 |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... |
ORPHA:314795 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... |
ORPHA:56304 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... |
OMIM:271640 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Red urine, Increased urinary porphobilinogen, Reticulocyt... |
OMIM:618892 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Abnormal finger morphology, Wrist flexion contracture, Metatarsus adductus, Thor... |
ORPHA:436003 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Scoliosis, ... |
ORPHA:1005 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Polydipsia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Metacarpal periostea... |
OMIM:617994 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Short neck, Truncal obesity, Slender finger |
OMIM:613192 |
| Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie... |
OMIM:613982 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Talipes equinovarus, Finger syndactyly, Scoliosis, Kyphosis, Abnormal rib morpho... |
ORPHA:2215 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sacral dimple, Sandal gap, Scoliosis, Hyperlordosis, Kyphosis, Po... |
OMIM:615761 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Spinal rigidity, Tall stature, Abnormal intervertebral disk morphology, Abnormality of the verteb... |
ORPHA:2062 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Hip dislocation... |
OMIM:265000 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Dehydration, Ascites, Decreased body w... |
ORPHA:1667 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... |
OMIM:300554 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Polyuria, Hypertonic dehydration, Hypernatremia, Failure to thrive, Megacystis |
OMIM:125800 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Dehydration, Thrombocytopenia, Leukopenia, ... |
OMIM:243500 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Polyuria, Hypertonic dehydration, Hypernatremia, Failure to thrive, Megacystis |
OMIM:304800 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow greater sciatic notch, Short long bone, Short ribs, Bowing of the long bones, Camptodactyl... |
OMIM:224400 |
| Stickler Syndrome, Type Iv |
|
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Hypoplastic iliac wi... |
OMIM:614134 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Scoliosis, Split hand, Kyphosis |
OMIM:618124 |
| Harrod Syndrome |
|
Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn... |
ORPHA:2115 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis, Split hand, Talipes equinovarus |
OMIM:607831 |
| Becker Nevus Syndrome |
|
Scoliosis, Hemivertebrae |
OMIM:604919 |
| Hellp Syndrome |
|
Acute kidney injury, Pulmonary edema, Decreased mean corpuscular hemoglobin concentration, Increa... |
ORPHA:244242 |
| Alpha-Mannosidosis |
|
Inguinal hernia, Craniofacial hyperostosis, Arthritis, Scoliosis, Bowing of the long bones, Kypho... |
ORPHA:61 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Wide anterior fontanel, Scoliosis, Kyphosis, Camptodactyly, Congenital contractu... |
OMIM:248700 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior... |
OMIM:255800 |
| Polycythemia Vera |
|
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, L... |
ORPHA:729 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Delayed pubic bone ossification, Platyspondyly, Delayed calcaneal ossific... |
OMIM:183900 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Tall stature, Aortic regurgitation, Scoliosis, Hypertension, Transient ischemic ... |
ORPHA:91387 |
| Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Dicarboxylic aciduria, Decreased circulating carnitine concentration, C... |
OMIM:212140 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... |
ORPHA:567548 |
| Galloway-Mowat Syndrome 7 |
|
Kyphoscoliosis, Cubitus valgus, Single transverse palmar crease, Arachnodactyly, Partial duplicat... |
OMIM:618348 |
| Alkaptonuria |
|
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... |
OMIM:203500 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Metacarpal osteolysis, Osteopenia, Wrist swelling, Ankle swellin... |
OMIM:166300 |
| Odontochondrodysplasia |
|
Abnormal metaphysis morphology, Square pelvis bone, Scoliosis, Bowing of the long bones, Short pa... |
ORPHA:166272 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... |
ORPHA:93315 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Atrophic scars, Camptodactyly, Bilateral talipes equinovarus, Arachnodactyly, Ad... |
OMIM:615539 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Increased arm span, Thin metacarpal cortices, Loss of truncal subcutaneous adipose tissue, Lumbar... |
ORPHA:2463 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Tapered distal phalanges of finger, Scoliosis, Elbow flexion contracture, Arachnodactyly, Hip con... |
ORPHA:371364 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Sensorineural hearing impairment, Low-set ears, Camptodactyly, Br... |
OMIM:301026 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Methylmalonic acidemia, Normochromic anemia, Homocystinuria, Hyperhomocystine... |
OMIM:614857 |
| Gitelman Syndrome |
|
Polydipsia, Urinary incontinence, Prolonged QT interval, Renal potassium wasting, Prominent U wav... |
ORPHA:358 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Bilateral single transverse palmar creases, Scoliosis, Kyphosis, Prominent metopic ridge |
ORPHA:85317 |
| Dysosteosclerosis |
|
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Abnorm... |
ORPHA:1782 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Orthostatic hypotension, Dehydration, Hypotension, Increased circulating renin leve... |
ORPHA:556030 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Neph... |
ORPHA:320 |
| Parana Hard Skin Syndrome |
|
Tapered finger, Restricted chest movement |
ORPHA:2812 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Scoliosis, Arachnodactyly, Slender build |
OMIM:617600 |
| Kleine-Levin Syndrome |
|
Polydipsia, Agitation, Abnormal eating behavior, Decreased libido, Polyphagia, Repetitive compuls... |
ORPHA:33543 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Scoliosis, Dislocation of the femoral head, Kyphosis, Co... |
OMIM:619797 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Multiple joint dislocation, Arachnodactyly, Slender long bones with narrow diaphy... |
ORPHA:536467 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hy... |
OMIM:612780 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi... |
OMIM:251110 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal hip bone morphology, Abnormal form of the vertebral b... |
ORPHA:1486 |
| East Syndrome |
|
Polydipsia, Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomag... |
ORPHA:199343 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Hearing impairment, Clinodactyly |
ORPHA:500166 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Joint hypermobility, Arachnodactyly, Scoliosis |
OMIM:619013 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... |
ORPHA:2741 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Abnormal epiphysis morphology, Epiphyseal dysplasia, Irregular vertebral endplates, ... |
ORPHA:250984 |
| Mycetoma |
|
Abnormality of the hand, Vertebral compression fracture, Abnormal form of the vertebral bodies, A... |
ORPHA:2583 |
| Dent Disease |
|
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re... |
ORPHA:1652 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Brachydactyly, Keloids |
ORPHA:3085 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lipoatrophy, Generalized lipodystrophy, Hyperextensibility of the finger joints, Scapular winging... |
OMIM:616914 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ... |
ORPHA:371428 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... |
OMIM:271665 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow greater sciatic notch, Scoliosis, Coxa vara, Short femoral neck, Platyspondyly, Proximal f... |
OMIM:602271 |
| Crisponi Syndrome |
|
Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Flexion contracture |
ORPHA:1545 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Dehydration, Increased circulating ren... |
OMIM:610600 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Macrotia, Clinodactyly |
OMIM:300928 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density, Genu valgum, Spina bifida occulta, Kyphosis, Short neck |
ORPHA:2983 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Rocker bottom foot, Deviation of the 5th toe, Broad 2nd toe, Sin... |
ORPHA:1692 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:237800 |
| Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bone... |
OMIM:617952 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Bradycardia, Myoglobinuria, Hypertension, Hypertensive crisis, Dysphagia, A... |
ORPHA:94093 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Flexion contracture, Talipes equinovarus |
OMIM:255200 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal cranial nerve mor... |
OMIM:601596 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Sandal gap, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology,... |
ORPHA:536532 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Joint contracture of the 5th finger, Scoliosis, Kyphosis, Congenital contracture... |
ORPHA:352490 |
| Cantu Syndrome |
|
Large for gestational age, Short hallux, Hypoplastic ischiopubic ramus, Osteoporosis, Umbilical h... |
OMIM:239850 |
| 3Q27.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Arachnodactyly, Disproportionate tall stature |
ORPHA:397695 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Clinodactyly of the 5th finger, Inguinal hernia, Scoliosis, Kyphosis, Decreased palmar creases, U... |
OMIM:615834 |
| Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... |
ORPHA:64739 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... |
ORPHA:3258 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Dehydration, Failure to thrive, Abnormality of the urinary system, Sma... |
ORPHA:99886 |
| Congenital Enterovirus Infection |
|
Myocarditis, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphology, Cardiomyopa... |
ORPHA:292 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... |
OMIM:135100 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Postural hypotension ... |
ORPHA:369873 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hypermobility, Kyphosis, Upper limb hypertonia |
OMIM:614898 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu... |
OMIM:613090 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:612462 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94089 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis, Ankle clonus, Short foot, Small hand |
OMIM:617435 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Renal Hypoplasia, Bilateral |
|
Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, Beta 2-microgl... |
ORPHA:97362 |
| 3Q29 Microdeletion Syndrome |
|
Joint hypermobility, Clinodactyly of the 5th finger, Tapered finger, Six lumbar vertebrae |
ORPHA:65286 |
| Marinesco-Sjogren Syndrome |
|
Cubitus valgus, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Flexion contracture, Cox... |
OMIM:248800 |
| Fountain Syndrome |
|
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Cran... |
ORPHA:3219 |
| Stickler Syndrome, Type Ii |
|
Joint hypermobility, Arachnodactyly, Arthropathy, Long fingers |
OMIM:604841 |
| Familial Cold Urticaria |
|
Polydipsia, Arthritis, Dehydration |
ORPHA:47045 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular f... |
OMIM:602522 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... |
ORPHA:1798 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis |
OMIM:618237 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral... |
ORPHA:66637 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting, Hyperkalemia, Dehydration, Hypotension, Hyponatremia, Failure to thrive |
OMIM:264350 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration, Elevated urinary 2-methyl-3-hydroxybutyric acid level |
OMIM:203750 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... |
OMIM:220150 |
| Baralle-Macken Syndrome |
|
Tapered finger, Kyphosis |
OMIM:619255 |
| Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Decreased body mass index, Hypotension, Increased nuchal translucency, Long finger... |
OMIM:615668 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Scoliosis, Tapered finger, Short foot, Camptodactyly, Kyphosis, Narrow palm, ... |
OMIM:615547 |
| Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Abnormal ilium morphology, Abnormal sacroiliac joint morphology, ... |
ORPHA:2655 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Hematuria, Aortic regurgitation, Melena, Hypotens... |
ORPHA:99147 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Arachnodactyly, Cone-shaped epiphysis, Brachydactyly |
ORPHA:2824 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Arachnodactyly, Sandal gap |
OMIM:616938 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cyst... |
OMIM:277400 |
| Verheij Syndrome |
|
Scoliosis, Hemivertebrae, Short 5th finger, Joint hypermobility, Short neck, Hip dislocation, Cli... |
OMIM:615583 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Arima Syndrome |
|
Polydipsia, Polyuria, Nephronophthisis, Anemia, Hematuria, Tubulointerstitial fibrosis, Polycysti... |
OMIM:243910 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Inguinal hernia, Abnormal form of the vertebral bodies, S... |
ORPHA:2645 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... |
ORPHA:1826 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... |
ORPHA:485 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Osteogenesis Imperfecta, Type Xvii |
|
Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ... |
OMIM:616507 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal... |
ORPHA:377 |
| Panhypophysitis |
|
Polydipsia, Orthostatic hypotension, Normochromic anemia, Decreased male libido, Hyposthenuria, I... |
ORPHA:95513 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Inguinal hernia, C1-C2 vertebral abnormality, Dislocated radial head, Scoliosis, Thi... |
OMIM:182212 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... |
ORPHA:1860 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Narrow iliac wing, Wormian bones, Kyphosis, C... |
OMIM:616294 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Flared metaphysis, Dislocated rad... |
OMIM:610758 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, H... |
OMIM:611489 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Anemia, Hyperuricemia, Cardiac arrest, Leukocytosis, Hypotension, Dehydration, Hyperamm... |
ORPHA:20 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... |
ORPHA:2345 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Facial edema, Stiff neck, Elevated circulating C-reactive protein concentration, Bra... |
ORPHA:319213 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Limited elbow movement, Scoliosis, Dislocation of toes, Camptodactyly, Congenital... |
OMIM:300280 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Metatarsus adductus, Scapular muscle atroph... |
OMIM:181405 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Joint stiffness, Attention deficit hyperactivity disorder, Nephrocalcinosis, Multiple r... |
ORPHA:534 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Arachnodactyly, Camptodactyly |
OMIM:614846 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Hammertoe, Split hand, Ulnar claw, Talipes equinovarus |
OMIM:604563 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Proximal placement of thumb, Scoliosis, Elbow flexion contracture, Hip dysplasia, ... |
OMIM:613776 |
| Methylmalonic Aciduria, Cbla Type |
|
Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Anemia, Pa... |
OMIM:251100 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Inguinal hernia, Scoliosis, Synostosis of carpal bone... |
ORPHA:3191 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Infertility, Hypotension, Osteoporosis of vertebrae, Amenorrhea, Hypogonadotropic hyp... |
ORPHA:95619 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... |
ORPHA:1225 |
| Van Den Ende-Gupta Syndrome |
|
Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarpals, 2-3 toe ... |
OMIM:600920 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Reticulocytosis, Thrombocyt... |
OMIM:235400 |
| Amelogenesis Imperfecta, Type Ig |
|
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency |
OMIM:204690 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Short metacarpal, Tarsal synostosis, Inguinal hernia, Bowed humerus, Scoliosis, Bl... |
OMIM:272460 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Epistaxis, Intracra... |
ORPHA:251274 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... |
OMIM:166600 |
| Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati... |
OMIM:600081 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Kyphosis |
OMIM:618138 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis... |
ORPHA:313892 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Hypocalcemic seizures, Enlargement of the costochondral junction, Fibular bowing, Genera... |
OMIM:264700 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro... |
ORPHA:710 |
| Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... |
ORPHA:3337 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... |
OMIM:260400 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Hemivertebrae, Rhizomelia, Vertebral segmentation defect |
OMIM:617661 |
| Sepsis In Premature Infants |
|
Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Tachycardia, Small fo... |
ORPHA:90051 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Glutaric aciduria, Increased level of hippuric acid in urine, Anemia, Hyperuricemia, Decreased ci... |
OMIM:246450 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform... |
OMIM:264180 |
| Schimke Immunoosseous Dysplasia |
|
Hypertension, Cerebral ischemia, Lymphopenia, Stage 5 chronic kidney disease, Neutropenia, Pancyt... |
OMIM:242900 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Scoliosis, Short ... |
OMIM:600373 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618147 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... |
ORPHA:85184 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Femoral bowing, Tibial bowing, Cardiomyopathy, Irregular, rachitic-lik... |
ORPHA:289157 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Inguinal hernia, Abnormal form of the vertebral bodies, Hy... |
ORPHA:3218 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Cardiomyocyte mitochond... |
ORPHA:423 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Kyphoscoliosis, Deviation of the 5th toe, Scoliosis, Slender finger, Down-sloping shoulders, Dors... |
ORPHA:391408 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Kyphosis, Short 3rd metacarpal, Umbili... |
OMIM:169400 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Hypertension, Dehydration, Failure to thrive |
OMIM:616069 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Limited mobility of proximal interphalangeal joint, Abnormal metacarpophalangeal joint morphology... |
ORPHA:85438 |
| Joubert Syndrome 18 |
|
Kyphoscoliosis, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, J... |
OMIM:614815 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Polyuria, Medullary nephrocalcinosis |
OMIM:300971 |
| Cohen Syndrome |
|
Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th fi... |
ORPHA:193 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Transient ischemic attack, Reticulocytosis, Microscopic hematuria, Abn... |
OMIM:274150 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short ribs, Decreased skull ossification, Ascites, Multiple prenatal fractures, Adducted thumb, H... |
OMIM:616897 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Addison Disease |
|
Anorexia, Renal salt wasting, Normocytic anemia, Hyperkalemia, Generalized bone demineralization,... |
ORPHA:85138 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... |
OMIM:600785 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Renal insufficiency, Capillary leak, Arthritis, Recurrent urinary tract infec... |
ORPHA:36234 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcaneus, Decreased skull ossific... |
OMIM:300863 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Abnormal rib mor... |
ORPHA:2522 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Arachnodactyly, Wrist hypermobi... |
ORPHA:481152 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis, 2-3 toe syndactyly, Posteriorly rotated ears, Clinodactyly |
OMIM:617352 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Persistent op... |
ORPHA:2332 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo... |
ORPHA:1657 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Palmoplantar cutis gyrata, Dislocated radial head, Accelerated skeletal maturation, Arachnodactyl... |
OMIM:130070 |
| Wolfram Syndrome |
|
Polydipsia, Gastrointestinal hemorrhage, Anemia, Recurrent urinary tract infections, Dysuria, Nep... |
ORPHA:3463 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Hearing impairment, Clinodactyly, Syndactyly, Brachydactyly |
OMIM:610023 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Decreased cranial base ossification, Metaphyseal cupping, Hypoplastic p... |
OMIM:151210 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... |
OMIM:613686 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... |
OMIM:615631 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Sh... |
ORPHA:420794 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Normocytic anemia, Premature ovarian insufficiency, Generalized bone demineralization, ... |
ORPHA:199299 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia, Hypertension, Nephrolithiasis, Pulmonary arterial hypertension, Epistaxi... |
ORPHA:369929 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Hernia, Postaxial hand polydactyly |
ORPHA:1702 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Anemia, Orthostatic hypotension, Orthostatic syncope, Dehydration, Elevat... |
ORPHA:230 |
| Acrodysostosis |
|
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... |
ORPHA:950 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Crumpled long... |
OMIM:166210 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Spinal rigidity, Distal joint hypermobility, Scoliosis, Increased laxity of ankles, Kyphosis, Wri... |
OMIM:254090 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Dehydration, Glycosuria, Nephropathy, Renal tubular dysfunction |
ORPHA:69076 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Clinodactyly of the 5th finger, Short metatarsal, Scoliosis, Hyperlordosis, Short metacarpal, Cam... |
ORPHA:77258 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Finger syndactyly, Scolios... |
ORPHA:958 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Osteoporosis, Kyphosis |
OMIM:618234 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Tall stature, Joint dislocation, Scoliosis, Arachnodactyly, Joint hypermobility, Palmoplantar cut... |
OMIM:130080 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Macrotia, Scoliosis, Clinodactyly |
OMIM:300934 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypotension, Nephrotic syndrome,... |
ORPHA:85445 |
| Chromosome 3Q29 Deletion Syndrome |
|
Long fingers, Clinodactyly of the 5th finger, Tapered finger |
OMIM:609425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Reticulocytosis, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis... |
OMIM:611590 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Single transverse palmar crease, Scoliosis, Kyphosis |
OMIM:300861 |
| Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext... |
OMIM:231070 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... |
OMIM:142900 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Polyarticular arthro... |
ORPHA:2848 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia |
OMIM:619170 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Limitation of joint mobility, Kyphosis, Micromelia, Brachydactyly... |
ORPHA:93274 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
| Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Hernia, Limitation of joint mobility, Abnormal vertebral morphology |
ORPHA:93476 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal metaphysis morphology, Abnormal vertebral morphology, Elevated circulating C-reactive pr... |
ORPHA:324964 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Hydrops fetalis, Refractory sideroblastic anemia, Anemia, Small for gestational age, Pa... |
OMIM:557000 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Reticulocytosis, Decreased hemoglobin concentration, Renal insufficiency, Hemolyti... |
ORPHA:713 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Broad middle phalanx of... |
OMIM:618853 |
| Phaver Syndrome |
|
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Abnor... |
ORPHA:2876 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Rocker bottom foot, Congenital hip dislocation, Multiple prenatal fractures, Arachnod... |
OMIM:271225 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Hypotensio... |
OMIM:620300 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco... |
ORPHA:88630 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Sialidosis Type 2 |
|
Inguinal hernia, Kyphosis, Osteoporosis, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Gastrointestinal hemorrhage, Anemia, Abnormality of the urethra, Dysuria, Thrombocyto... |
ORPHA:537 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Reduced bone mineral density, Osteoporosis of vertebrae, Delayed skeletal maturation,... |
ORPHA:243 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Low-set ears, Camptodactyly of toe, Ca... |
OMIM:300244 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis, Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Limb joint cont... |
OMIM:612079 |
| Shigellosis |
|
Anorexia, Acute kidney injury, Urethritis, Myocarditis, Hemolytic-uremic syndrome, Arthritis, Spl... |
ORPHA:810 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Scoliosis, Clinodactyly, Syndactyly |
OMIM:619091 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Increased ur... |
ORPHA:231580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Shoulder gird... |
OMIM:606612 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... |
ORPHA:2496 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Low-set ears, Central Y-shaped metacarpal, Hearing impairment, ... |
OMIM:617926 |
| 4Q21 Microdeletion Syndrome |
|
Scoliosis, Kyphosis, Micromelia, Short palm, Short neck, Toe syndactyly, Short foot, Small hand |
ORPHA:238750 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Limited elbow movement, Limitation of knee mobility, Abnormal hand morphology, Arachnodactyly, Ge... |
ORPHA:319171 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hypokalemia, Anuria, Hypertension, Dehydration, Leukocytosis, Reticulocytosi... |
ORPHA:90038 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Satoyoshi Syndrome |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip... |
ORPHA:3130 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Rhizomelia, Vertebral compression fracture, Angulated humerus, Recurrent fractures, S... |
OMIM:616229 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... |
OMIM:301083 |
| Down Syndrome |
|
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Sandal gap, Acute megakaryocytic leukem... |
ORPHA:870 |
| Legionnaires Disease |
|
Anorexia, Myocarditis, Hematuria, Hypotension, Pericarditis, Hyponatremia, Arrhythmia, Splenomega... |
ORPHA:549 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Osteoarthritis, Platyspon... |
ORPHA:90653 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
| Greenberg Dysplasia |
|
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... |
OMIM:215140 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Hyperlordosis, Kyphosis, Slender finger, ... |
OMIM:618443 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Short neck, Scoliosis, Hemivertebrae |
ORPHA:52047 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Tall stature, Claw hand deformity, Hammertoe, Areflexia of upper limbs, Long fingers, Achilles te... |
OMIM:620528 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Hypoplastic ilia, Hypoplastic ischi... |
OMIM:614524 |
| Bainbridge-Ropers Syndrome |
|
Arachnodactyly, Scoliosis, Disproportionate tall stature |
ORPHA:352577 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Kyphosis,... |
OMIM:617602 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ... |
ORPHA:2774 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Radial club hand, Absent thumb, Abnormality of the vertebral column |
OMIM:276950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Hyperlordosis, Prominent fingertip pads, Arachnodactyly, Joint hypermobility |
OMIM:300986 |
| Distal Triplication 15Q |
|
Large for gestational age, Scoliosis, Camptodactyly, Kyphosis, Birth length greater than 97th per... |
ORPHA:314588 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocal... |
ORPHA:143 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
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 |
|
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... |
ORPHA:2911 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Failur... |
OMIM:251120 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses... |
OMIM:602849 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal femoral head morphology, Hypertension, Hyperlipidemia, Cerebral ischemia, Hypoplastic pe... |
ORPHA:1830 |
| 15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Abnormal thumb morphology, Proximal placement of thumb, Scoliosi... |
ORPHA:94065 |
| Brittle Cornea Syndrome |
|
Scoliosis, Corneal scarring, Camptodactyly, Arachnodactyly, Hip dysplasia, Abnormal epiphysis mor... |
ORPHA:90354 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly |
ORPHA:93946 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Ca... |
ORPHA:542323 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Bilateral single transverse palmar creases, Truncal obesity, Tapered finger, Cubitus valgus |
ORPHA:85280 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Arthritis, Xerostomia, Dyspareunia, Hypertensive crisis, Pulmonary arte... |
ORPHA:220393 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Spinal rigidity, Clinodactyly of the 5th finger, Inguinal hernia, Tape... |
OMIM:620545 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx |
OMIM:618724 |
| Achard Syndrome |
|
Joint hypermobility, Arachnodactyly |
OMIM:100700 |
| Sjögren-Larsson Syndrome |
|
Joint stiffness, Abnormal dental enamel morphology, Scoliosis, Kyphosis |
ORPHA:816 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo... |
OMIM:207410 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Wide anterior fontanel, Kyphosis, Umbilical hernia |
OMIM:618272 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... |
OMIM:620099 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Vertebral segmentation defect, Split hand |
ORPHA:3004 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae |
ORPHA:79107 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Congestive heart failure, Polyhydramnios, Rhizomelia, Dehydration, T... |
OMIM:616271 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... |
ORPHA:3429 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo... |
OMIM:619557 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... |
ORPHA:3320 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Irregular epiphyses, Joint hypermobility, Broad thumb, Metaphyseal widening, Brachy... |
OMIM:612813 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Ascites, Thrombocytopenia, Leukopenia,... |
ORPHA:99828 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Scoliosis, Facial palsy, Absent brainstem auditory responses, E... |
OMIM:617519 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Low-set ears, Hearing impairment, Clinodactyly, Short neck, Overfolded helix |
ORPHA:251046 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pleural empyema, Pleural effusion, Hypoten... |
ORPHA:36238 |
| Typical Nemaline Myopathy |
|
Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck... |
ORPHA:171436 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs |
ORPHA:96190 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Scoliosis, Kyphosis, Hearing impairment |
ORPHA:99014 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Elevated urinary catecholamine level, Hypertension, Renal cell carcinoma, Cardiomyop... |
ORPHA:892 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Renal salt wasting, Hyperkalemia, Tall stature, Azoospermia, Recurrent urinary tract in... |
ORPHA:361 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Arachnodac... |
ORPHA:96169 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Joint stiff... |
ORPHA:2307 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Scoliosis, Slen... |
ORPHA:329224 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria, Hypochromic anemia |
ORPHA:514 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicul... |
OMIM:601216 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Dehydration, Hematochezia, Abnormal circulating polys... |
ORPHA:103910 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Genu recurvatum, Finger syndactyly, Single transverse palmar crea... |
ORPHA:915 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle weakness,... |
OMIM:607155 |
| Shprintzen-Goldberg Syndrome |
|
Abnormal metaphysis morphology, Genu valgum, Inguinal hernia, Abnormal form of the vertebral bodi... |
ORPHA:2462 |
| Cog7-Cdg |
|
Adducted thumb, Abnormal finger morphology, Long fingers, Short neck |
ORPHA:79333 |
| Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Congenital foot contractures, Scoliosis, Hyperlordosis, Camptodactyl... |
OMIM:314580 |
| Loeys-Dietz Syndrome 5 |
|
Kyphoscoliosis, Increased arm span, Flexion contracture of toe, Spondylolisthesis, Inguinal herni... |
OMIM:615582 |
| Wilson-Turner Syndrome |
|
Short foot, Truncal obesity, Tapered finger, Small hand |
ORPHA:3459 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Talipes valgus, Clinodactyly of the 5th finger, Clubbing of fingers, Scoliosis, Knee ... |
OMIM:620083 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Abnormal blood ion concentration, Ed... |
ORPHA:79404 |
| Myopathy, Centronuclear, X-Linked |
|
Birth length greater than 97th percentile, Arachnodactyly, Slender toe, Flexion contracture |
OMIM:310400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Meningococcal Meningitis |
|
Anorexia, Stiff neck, Elevated circulating C-reactive protein concentration, Hypotension, Renal i... |
ORPHA:33475 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang... |
OMIM:186400 |
| 2Q31.1 Microdeletion Syndrome |
|
Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ... |
ORPHA:251014 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Deep palmar crease, Plantar flexion contracture, Slender finger, Cutaneous syndactyly of toes, Um... |
ORPHA:2872 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98855 |
| Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Ischemic stroke, Anemia, Pancytopenia, Hyperhomocystine... |
ORPHA:542643 |
| Moebius Syndrome |
|
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... |
OMIM:157900 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Scolio... |
ORPHA:236 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... |
OMIM:184460 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Abnormal rib morphology, Omphalocele, Camptodactyly of finger, A... |
ORPHA:261344 |
| Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Polyhydramnios, Hyperbilirubinemia, Ascites, Failure to thrive, Poly... |
OMIM:606812 |
| Harlequin Ichthyosis |
|
Limitation of joint mobility, Dehydration, Foot polydactyly, Hand polydactyly, Self-injurious beh... |
ORPHA:457 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo... |
ORPHA:140 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Kyphoscoliosis, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Arachnodactyly, Joi... |
OMIM:612513 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Cervical spinal canal stenosis, Ankle flexion contracture, Reduced bone mineral density, Vertebra... |
OMIM:620232 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Short phalanx of finger, Trapezoidal vertebral body, Brachydactyly |
OMIM:600092 |
| Mesomelia-Synostoses Syndrome |
|
Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacarpal synostosi... |
OMIM:600383 |
| Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Rocker bottom foot, Adducted thumb, Joint contracture of the hand, Flexion contra... |
OMIM:193700 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Flexion contracture, Kyphosis, Ankle clonus |
OMIM:609541 |
| Opsismodysplasia |
|
Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnormally... |
ORPHA:2746 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Edinburgh Malformation Syndrome |
|
Slender finger, Joint stiffness, Accelerated skeletal maturation, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
| Opsismodysplasia |
|
Posterior rib cupping, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Scoliosis, Short ... |
OMIM:258480 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Long palm, Scoliosis, Kyphosis |
OMIM:300676 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens... |
OMIM:263200 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short finger, Single transverse palmar crease, Slender finger, Arachnodactyly, Joint contracture,... |
OMIM:615656 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Femoral bowing, Joint stiffness, Camptodactyly of finger, Arachno... |
ORPHA:83 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... |
ORPHA:289176 |
| Loeys-Dietz Syndrome 6 |
|
Congenital diaphragmatic hernia, Osteochondritis dissecans, Hip osteoarthritis, Inguinal hernia, ... |
OMIM:619656 |
| Helix Syndrome |
|
Polyuria, Renal insufficiency, Nephrolithiasis, Hypocalciuria |
OMIM:617671 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Short neck, Ta... |
OMIM:607131 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... |
ORPHA:1788 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Short finger, Hip subluxation, Clinodactyly of the 5th finger, Metatarsus adductus, Joint hypermo... |
OMIM:619180 |
| Hyperoxaluria, Primary, Type I |
|
Hematuria, Calcium oxalate nephrolithiasis, Increased bone mineral density, Hyperoxaluria, Dehydr... |
OMIM:259900 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... |
ORPHA:1228 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Dehydration, Hypovolemic shock, Increased circulating renin level, Hyponatremia, We... |
ORPHA:171876 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... |
ORPHA:2769 |
| Hand-Foot-Genital Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... |
ORPHA:2438 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal form of the vertebral bod... |
ORPHA:2021 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocal... |
ORPHA:99880 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hydrops fe... |
ORPHA:79282 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... |
OMIM:610442 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Rocker bottom foot, Radial deviation of the hand, Scoliosis, Limited shoulder movement, Kyphosis,... |
OMIM:301041 |
| 15Q Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Overgrowth, Abnormal coccyx morphology, Arachnodactyly... |
ORPHA:314585 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ... |
ORPHA:280 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, 2-3 toe syndactyly, Short 5th... |
OMIM:239800 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating C-reactive protein concentration, Hypertension, Pleural ... |
ORPHA:79126 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Clinodactyly of the 5th finger, Cubitus valgus, Sandal gap, Inguinal hernia, Scoliosis, Kyphosis,... |
ORPHA:85293 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Pathologic ... |
OMIM:601559 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, S... |
OMIM:619269 |
| Lowry-Wood Syndrome |
|
Irregular epiphyses, Dislocated radial head, Abnormal epiphysis morphology, Coxa vara, Joint stif... |
ORPHA:1824 |
| Trigonocephaly 1 |
|
Craniosynostosis, Metopic synostosis, Lumbar hemivertebrae |
OMIM:190440 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Failure to thrive, Joint contracture, Dysphagia |
ORPHA:35708 |
| Prieto Syndrome |
|
Radial deviation of finger, Low-set ears, Coxa valga, Clinodactyly, Talipes equinovarus |
OMIM:309610 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis |
OMIM:615433 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Short palm, Clinodactyly |
ORPHA:73273 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Scoliosis, Clinodactyly, Short foot, Small hand |
ORPHA:254531 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger |
OMIM:300706 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Hypertension, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Scoliosis, Kyphosis, Osteoporosis, Joint contractur... |
OMIM:615381 |
| Basan Syndrome |
|
Flexion contracture of digit, Single transverse palmar crease, Cutaneous syndactyly of toes, Palm... |
OMIM:129200 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... |
OMIM:302960 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Genu valgum, Thoracolumbar kyphosis, Anterior beaking of lumbar ver... |
OMIM:253220 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Leukocytosis, Ascites, Hyponatremia, Thrombocytopenia, Edema, Sm... |
ORPHA:391673 |
| Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,... |
ORPHA:198 |
| Lead Poisoning |
|
Anorexia, Cranial hyperostosis, Abnormal T cell morphology, Decreased HDL cholesterol concentrati... |
ORPHA:330015 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Rocker bottom foot, Sandal gap, Bicoronal synostosis, Single transverse palmar crease, 2-3 toe sy... |
OMIM:619951 |
| Pycnodysostosis |
|
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope... |
ORPHA:763 |
| Larsen-Like Syndrome |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial... |
OMIM:608545 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Acute kidney injury, Enlarged kidney, Gastrointestinal hemorrhage, Increased serum bi... |
ORPHA:731 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Dysosteosclerosis |
|
Osteopenia, Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation,... |
OMIM:224300 |
| Autosomal Agammaglobulinemia |
|
Arthritis, Dehydration, Failure to thrive, Osteomyelitis, Neutropenia |
ORPHA:33110 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98863 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Failure ... |
OMIM:177735 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Abnormal cervical curvature, Absent radius, Patellar dislocation... |
ORPHA:56305 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly |
ORPHA:73246 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... |
ORPHA:2347 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv... |
ORPHA:99827 |
| Weaver Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... |
OMIM:277590 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Metaphyseal widening, Er... |
OMIM:618476 |
| Vissers-Bodmer Syndrome |
|
Tall stature, Tapered finger |
OMIM:619033 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
| Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... |
OMIM:615220 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal cupping, Short long ... |
OMIM:613320 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Renal salt wasting, Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Azoospermia, Decreased fe... |
ORPHA:90791 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Tall stature, Scoliosis, Hyperlordosis, Kyphosis, Arachnodactyly, Disp... |
OMIM:617011 |
| Congenital Myopathy 12 |
|
Camptodactyly, Jaw contracture, Arachnodactyly, Overlapping fingers, Joint contracture of the hand |
OMIM:612540 |
| Martsolf Syndrome 1 |
|
Talipes valgus, Slender ulna, Talipes equinovarus, Inguinal hernia, Tracheomalacia, Short metacar... |
OMIM:212720 |
| 15q26 overgrowth syndrome |
|
Scoliosis, Abnormal finger morphology, Overgrowth, Camptodactyly of finger, Short neck, Arachnoda... |
DECIPHER:81 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Bowing of the long bones, Kyphosis, Lateral femoral b... |
OMIM:239000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Kyphosis, Brachydactyly, Joint hypermobility, Short foot, Small hand |
OMIM:300354 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Bradycardia, Cardiac arrest, Cardiomyopathy, Premature ventricular contrac... |
OMIM:212138 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Sacral dimple, Sandal ga... |
OMIM:206920 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... |
ORPHA:1106 |
| Cholera |
|
Acute kidney injury, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Dehydration, Hy... |
ORPHA:173 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Hemivertebrae, Sacral dimple |
OMIM:619318 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Scoliosis, Kyphosis, Joint stiffness, Camptodactyly of finger, Thenar muscle atr... |
OMIM:607015 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Multiple ench... |
ORPHA:99646 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Short clavicles, Short neck, Overweight, Cervical kyphosis, Tapered finger, Small hand |
ORPHA:401923 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension... |
ORPHA:159 |
| Mcdonough Syndrome |
|
Bilateral single transverse palmar creases, Scoliosis, Kyphosis |
ORPHA:2471 |
| Bresek Syndrome |
|
Scoliosis, Hemivertebrae, Postaxial hand polydactyly |
ORPHA:85284 |
| Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcy... |
ORPHA:848 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Hyperlordosis, Bowing of the long bo... |
ORPHA:261330 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly |
OMIM:616730 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Shock, Hematuria, Prol... |
ORPHA:31826 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Broad palm, Rhizomelia, Inguin... |
OMIM:166250 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
| Pearson Syndrome |
|
Cardiomyopathy, Reticulocytosis, Splenomegaly, Dysphagia, Hypophosphatemia, Lacticaciduria, Neutr... |
ORPHA:699 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Bulging of the c... |
OMIM:277440 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal vertebral morphology, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, T... |
ORPHA:3224 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Ogden Syndrome |
|
Enlarged kidney, Sandal gap, Premature ventricular contraction, Dysphagia, Oligohydramnios, Polyc... |
OMIM:300855 |
| Oculoskeletodental Syndrome |
|
Sensorineural hearing impairment, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hearing impairment... |
ORPHA:557003 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Thoracic scoliosis, Kyphosis, Knee flexion contracture |
OMIM:603387 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98853 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Long fingers, Tapered finger |
OMIM:618292 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short finger, 2-3 toe syndactyly, Scoliosis, Tapered finger, Long fingers, Broad hallux, Short to... |
OMIM:618659 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hea... |
OMIM:605282 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs |
ORPHA:77300 |
| Mucolipidosis Ii Alpha/Beta |
|
Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalanges of the hand, Um... |
OMIM:252500 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteochondritis dissecans, Spondylolisthesis, Inguinal hernia, Intervertebral disk degeneration, ... |
ORPHA:284984 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Genu valgum, Fibular bowing, Vertebral compression fracture, Inguinal hernia, Scolios... |
OMIM:613848 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Dehydration, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight ... |
ORPHA:35710 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... |
ORPHA:957 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Scoliosis, Prominent fingertip pads, Long fingers, Joint hypermobility, Tapered finger, Talipes e... |
OMIM:617773 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... |
ORPHA:508533 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... |
OMIM:185800 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Anasarca, Polyhydramnios, Hypocalcemia, Pleural effusion, Ascites... |
OMIM:618183 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Tall stature, Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Disproportion... |
OMIM:309520 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Scoliosis, Kyphosis, Hip dislocation |
ORPHA:464282 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion... |
OMIM:312150 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Osteopenia, Tall stature, Platyspondyly, Joint dislocation, Talipes equinovarus, ... |
OMIM:225400 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Erectile dysfunction, Decreased fertility in males, Dyspareunia, H... |
ORPHA:2965 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic i... |
OMIM:620076 |
| Cutaneous Mastocytoma |
|
Peau d'orange, Hypotension, Angioedema, Telangiectasia of the skin, Telangiectasia macularis erup... |
ORPHA:79455 |
| Cleidocranial Dysplasia 1 |
|
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... |
OMIM:119600 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Hemivertebra... |
OMIM:614701 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
| Hurler Syndrome |
|
Diaphyseal undertubulation, Cranial hyperostosis, Inguinal hernia, Short clavicles, Calvarial hyp... |
OMIM:607014 |
| ERI1-related disease |
|
Dislocated radial head, Oligodactyly, Slender metacarpals, Syndactyly, Hip dislocation, Scoliosis... |
OMIM:608739 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Short metacarpal, Hypogonadism, Genu varum, Telangiectasia, Finger symphalangism... |
ORPHA:221008 |
| Camurati-Engelmann Disease |
|
Abnormal subcutaneous fat tissue distribution, Genu valgum, Abnormal diaphysis morphology, Abnorm... |
ORPHA:1328 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Dysplasia of second lumbar vertebra, Hip dysplasia |
OMIM:208060 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress... |
OMIM:194380 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Joint hypermobility, Flexion contracture |
OMIM:616470 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Reduced bone mineral density, High-output congestive heart failure, Abnormality of ir... |
ORPHA:231222 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Azoospermia, Dehydration, Oligozoospermia, Hyponatremia, Failure to thrive, H... |
OMIM:300200 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
| Cornelia De Lange Syndrome 6 |
|
Clinodactyly of the 5th finger, Inguinal hernia, Scoliosis, Arachnodactyly, Short palm, Posterior... |
OMIM:620568 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Abnormal pinna morphology, Overfolded helix, Short phalanx of finger, Brachydactyly... |
OMIM:614684 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Osteopenia, Flared metaphysis, Wide anterior fontanel, Anterior concavity of thor... |
OMIM:249420 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Tibial bowi... |
ORPHA:352540 |
| Zttk Syndrome |
|
Cervical ribs, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Aortic regurgitation, Scoli... |
OMIM:617140 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Scoliosis, 2-3 toe syndactyly, Umbilical hernia, Short neck, Tap... |
ORPHA:284180 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Scoliosis, Tibia... |
OMIM:259770 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... |
ORPHA:90652 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Wide anterior fontanel,... |
OMIM:201170 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Kyphosis, Ankle clonus |
OMIM:614409 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Abnormal vertebral segmentation and fusio... |
OMIM:118100 |
| Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
| Thanatophoric Dysplasia, Type Ii |
|
Flared metaphysis, Short greater sciatic notch, Hypoplastic ilia, Small abnormally formed scapula... |
OMIM:187601 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Sensorineural hearing impairment, Scoliosis, Camptodactyly, Hearing impairment, B... |
OMIM:616354 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure |
ORPHA:1129 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal hernia, Scoliosis, Femoral hernia, C... |
ORPHA:3342 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Reduced bone mineral density, Hypercalciuria, Hypocalcemia, Hypotension... |
ORPHA:428 |
| Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Hemiverteb... |
OMIM:200980 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Acute kidney injury, Polyhydramnios, Severe failure to thrive, Hyperprostagla... |
ORPHA:89938 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Hypsarrhythmia, Scoliosis, Clinodactyly, EEG with burst suppression |
OMIM:620316 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Osteoporosis, Short distal phala... |
ORPHA:1517 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Tapered finger |
OMIM:619000 |
| Galloway-Mowat Syndrome 10 |
|
Arachnodactyly |
OMIM:619609 |
| Gand Syndrome |
|
Long fingers, Long toe |
OMIM:615074 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Al Kaissi Syndrome |
|
Sacral dimple, Deep palmar crease, Hemivertebrae, Clinodactyly, Small hand |
OMIM:617694 |
| Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Proximal placement of thumb, Short foot, Brachydactyly, Short neck, Clino... |
OMIM:300590 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Oligomenorrhea, Hypotension, Impotence |
ORPHA:91354 |
| 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 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Lymphedema, Primary, With Myelodysplasia |
|
Cellulitis, Long fingers, Tapered finger |
OMIM:614038 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Short greater sciatic notch, Flared metaphysis, Femoral bowing, Short l... |
OMIM:187600 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Limited elbow extension, Adducted thumb, Radial deviation of finger, Elbow flexio... |
OMIM:272430 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion... |
OMIM:253290 |
| Atypical Rett Syndrome |
|
Scoliosis, Short foot, Kyphosis, Small hand |
ORPHA:3095 |
| Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal circulating tryptophan concentration, Hypotension, Motor stereot... |
ORPHA:79155 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Acromicria, Low-set, posteriorly rotated ears, Short foot, Clinodactyly, Small hand |
ORPHA:254525 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Hennekam-Beemer Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Hypotension, Mastocytosis, Camptodactyly of finger, Fa... |
ORPHA:2135 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Irregular epiphyses, Sensorineural hearing impairment, Scoliosis, Abnormal auditory evoked potent... |
OMIM:619260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Weight loss |
ORPHA:95626 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis |
OMIM:616455 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Scoliosis, Postaxial hand polydactyly, Kyphosis, Brachydactyly |
ORPHA:2075 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:258850 |
| Mercury Poisoning |
|
Anorexia, Acute kidney injury, Hypokalemia, Hypertension, Hypotension, Tachycardia |
ORPHA:330021 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... |
ORPHA:91500 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Broad finger, Abnormal auditory evoked potentials, Optic... |
OMIM:617523 |
| 19P13.12 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Deep palmar crease, Sandal gap, Craniosynostosis, Finger syndacty... |
ORPHA:254346 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Genu valgum, Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Arachnodactyly, Disproportionate... |
ORPHA:394 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Hypoplastic helices, Finger syndactyly, Wide anterior fontanel, Abnormal pinna morph... |
ORPHA:313781 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Metaphyseal irregularity, Short finger, Flared metaphysis, Metaphys... |
OMIM:608940 |
| Trisomy 20P |
|
Reduced bone mineral density, Platyspondyly, Abnormal hip bone morphology, Inguinal hernia, Abnor... |
ORPHA:261318 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Scoliosis, Short long ... |
ORPHA:1190 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Abnormal dental enamel morphology, Scoliosis, Abnormal epiphysis ... |
ORPHA:2107 |
| Mehmo Syndrome |
|
Obesity, Tapered finger, Talipes equinovarus |
ORPHA:85282 |
| Distal Duplication 17Q |
|
Genu valgum, Rhizomelia, Scoliosis, Arachnodactyly, Hand polydactyly, Joint hypermobility, Overla... |
ORPHA:3379 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Bone cyst, Scoliosis, Kyphosis |
ORPHA:2047 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Monosomy 18Q |
|
Kyphoscoliosis, Atlantoaxial abnormality, Delayed skeletal maturation, Slender build, Arachnodact... |
ORPHA:1600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Lymphocytosis, Peau d'orange, Myeloproliferative disorder, Hypotensi... |
ORPHA:79456 |
| Tsh-Secreting Pituitary Adenoma |
|
Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hypogonadism, Decreased femal... |
ORPHA:91347 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia,... |
ORPHA:93111 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
| Spondyloocular Syndrome |
|
Osteopenia, Femur fracture, Vertebral compression fracture, Arachnodactyly, Long fingers, Platysp... |
OMIM:605822 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly |
OMIM:616420 |
| 3C Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hemivertebrae, Kyphosis, Hand polydac... |
ORPHA:7 |
| Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria, Hematuria, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyc... |
OMIM:232800 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Recurrent joint dislocation, Scoliosis, Abnormality of the cervical spine, Decrea... |
ORPHA:2953 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Scoliosis, Kyphosis, Camptodactyly, Flexion contracture of finger, Osteomyelitis |
ORPHA:88628 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Joint hypermobility, Thoracic kyphosis, Osteoporosis, Pl... |
ORPHA:85194 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Short palm, Clinodactyly, Protruding ear, Tapered finger, Talipes equino... |
ORPHA:85279 |
| Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Joint stiffness, Hypoplastic vertebral bod... |
OMIM:230600 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... |
OMIM:211350 |
| Alexander Disease |
|
Osteopenia, Scoliosis, Hyperlordosis, Hypertension, Hypotension, Kyphosis, Failure to thrive, Dys... |
ORPHA:58 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:109120 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossificatio... |
ORPHA:2976 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Scrub Typhus |
|
Myocarditis, Hypotension, Renal insufficiency, Splenomegaly |
ORPHA:83317 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Scoliosis, Arachnodactyly, Flexion contracture,... |
OMIM:208050 |
| Alg1-Cdg |
|
Scoliosis, Limitation of joint mobility, Kyphosis |
ORPHA:79327 |
| Primary Hyperoxaluria Type 3 |
|
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... |
ORPHA:93600 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Scoliosis, Hyp... |
ORPHA:2789 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Short... |
OMIM:312870 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Scoliosis, 2-3 toe syndactyly, Long fingers, Flexion contracture, Tapered finger |
OMIM:218000 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Aplastic anemia, Reduced bone mineral density, Neutropenia, A... |
ORPHA:2909 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Genu valgum, Obesity, Large hands, Tapered finger |
ORPHA:85325 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Generalized joint hypermobility, Clinodactyly of the 5th finger, Abnormal hip bone mo... |
ORPHA:251028 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Micropenis, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Acrocraniofacial Dysostosis |
|
Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Spina bifida occulta, Abnormal f... |
ORPHA:949 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Hypotension |
OMIM:267430 |
| Non-Functioning Pituitary Adenoma |
|
Male hypogonadism, Erectile dysfunction, Decreased fertility in males, Anemia of inadequate produ... |
ORPHA:91349 |
| Nipah Virus Disease |
|
Anorexia, Hypotension |
ORPHA:99825 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... |
OMIM:228520 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Inguinal hernia, Scoliosis, Kyphosis, Joint stiffness, Hypoplastic v... |
OMIM:230500 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Kyphoscoliosis, Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Brachydactyly,... |
OMIM:275900 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphoscoliosis, Large for gestational age, Limitation of joint mobility, Overgrowth, Kyphosis, Ar... |
ORPHA:457359 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... |
OMIM:616943 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79444 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Hypoplastic ischia, De... |
OMIM:617866 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Abnormal temper tantrums, Elevated plasma citrulline, Hypertaurinemia, Hypoglutaminemia... |
ORPHA:3008 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Hematemesis, Iron deficiency anemia, Melena, Hypotension, Tricuspid regurgitation, Faci... |
ORPHA:100075 |
| Campomelic Dysplasia |
|
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac... |
OMIM:114290 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Osteopenia, Abnormality of the hand, Congenital kyphoscoliosis, Shoulder dislocat... |
ORPHA:536545 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,... |
OMIM:170390 |
| Loeys-Dietz Syndrome 4 |
|
Tall stature, Spondylolisthesis, Scoliosis, Arachnodactyly, Protrusio acetabuli, Joint hypermobil... |
OMIM:614816 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Neonatal death, Dehydration |
OMIM:602199 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the wrist, ... |
ORPHA:85408 |
| Spherocytosis, Type 2 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Sickle Cell Anemia |
|
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... |
ORPHA:232 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Shashi-Pena Syndrome |
|
Deep palmar crease, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Osteo... |
OMIM:617190 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Kyphoscoliosis, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Metaphyseal irregula... |
OMIM:607944 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
| Glucose/Galactose Malabsorption |
|
Glycosuria, Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Tapered finger, Genera... |
ORPHA:589905 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, Oligoarthritis |
OMIM:106300 |
| Chung-Jansen Syndrome |
|
Clinodactyly of the 5th finger, Obesity, Hip dysplasia, Joint hypermobility, Tapered finger |
OMIM:617991 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Joint hy... |
ORPHA:2658 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Polydipsia, Hypokalemia, Long penis, Cardiomyopathy, Increased C-peptide level, Neph... |
ORPHA:769 |
| Say Syndrome |
|
Short distal phalanx of finger, Tapered finger, Ulnar deviation of the 3rd finger |
OMIM:181180 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Scoliosis, Kyphosis, Metatarsus valgus, Joint hypermobility, Tapered finger, Genu varum |
ORPHA:2479 |
| Basal Cell Nevus Syndrome 1 |
|
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb... |
OMIM:109400 |
| Coffin-Lowry Syndrome |
|
Broad finger, Abnormal diaphysis morphology, Craniofacial hyperostosis, Abnormal form of the vert... |
ORPHA:192 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Delayed skeletal maturation, Joint hypermobility, Coxa valga, Genu v... |
OMIM:224690 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular fai... |
ORPHA:100078 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Myocardial infarction, Anemia, Hemosiderinuria, Pancytopenia, Hypertension, ... |
ORPHA:447 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy |
OMIM:615084 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Adducted thumb, Ankle clonus |
ORPHA:412057 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... |
OMIM:235700 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Hypoplasia of penis |
ORPHA:3157 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Sialidosis Type 1 |
|
Scoliosis, Hernia, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion... |
OMIM:610682 |
| Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon, Sensorineural hearing impairment, Scapular winging, Cutaneous finger synda... |
OMIM:148820 |
| Trisomy 13 |
|
Bilateral single transverse palmar creases, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, ... |
ORPHA:3378 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Beckwith-Wiedemann Syndrome |
|
Large for gestational age, Enlarged kidney, Ureteral duplication, Polyhydramnios, Tall stature, C... |
ORPHA:116 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Bone cyst, Narrow iliac wing, Scoliosis, Calcification of ... |
ORPHA:3042 |
| Bainbridge-Ropers Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Deep palmar crease, Scoliosi... |
OMIM:615485 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Enlarged kidney, Anasarca, Pulmonary edema, Bradycardia, ST segment ele... |
OMIM:261740 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Patell... |
ORPHA:261279 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Short phalanx of fi... |
OMIM:605130 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Scoliosis, Decreased motor nerve cond... |
OMIM:610532 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Lipodystrophy, Kyphosis, Hip dislocation |
OMIM:608776 |
| Achondroplasia |
|
Limited elbow extension, Narrow greater sciatic notch, Ulnar bowing, Flared metaphysis, Femoral b... |
OMIM:100800 |
| Ritscher-Schinzel Syndrome 1 |
|
Hemivertebrae, Syndactyly |
OMIM:220210 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:1452 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia, Failure to thrive, Dehydration, Ketonuria |
OMIM:615453 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly |
OMIM:614702 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Genu valgum, Joint dislocation, S... |
ORPHA:230851 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... |
OMIM:616549 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia |
OMIM:250790 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Flared metaphysis, Wide ant... |
OMIM:618150 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Spondylolisthesis, Scoliosis, Prominent fingertip pads, Kyphosis, Prominent metopi... |
OMIM:610443 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... |
ORPHA:536471 |
| Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Brachydact... |
OMIM:617808 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... |
OMIM:224120 |
| Atelosteogenesis, Type I |
|
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... |
OMIM:108720 |
| Cardiofacioneurodevelopmental Syndrome |
|
Brachydactyly, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly |
OMIM:619123 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Y-shaped metatarsals, Hem... |
OMIM:146510 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
| Frontonasal Dysplasia 1 |
|
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Low-s... |
OMIM:136760 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Progressive clavicular acroosteo... |
OMIM:608612 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Radial deviation of finger, Clinodactyly, Inguinal hernia |
OMIM:609944 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Scoliosis, Kyphosis, Abnormality of t... |
ORPHA:464306 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla... |
ORPHA:3201 |
| Zaki Syndrome |
|
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Sacral dimple, Scoliosis, Ectrod... |
OMIM:619648 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Hammertoe, Squared ... |
OMIM:618000 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Platyspondyly, Hematuria, Pancytopenia, Arthritis, Vasculitis, Hyper... |
ORPHA:1855 |
| Congenital Myopathy 22A, Classic |
|
Spinal rigidity, Scoliosis, Scapular winging, Kyphosis, Congenital finger flexion contractures, O... |
OMIM:620351 |
| Schwartz-Jampel Syndrome |
|
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr... |
ORPHA:800 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Slender long bone, Cone-shaped epiphyses of the p... |
OMIM:210730 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ... |
ORPHA:3144 |
| Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Inguinal hernia, Thin ribs, Omphalocele, Long fingers, Limb undergrowth, Flexion ... |
OMIM:608149 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Scoliosis, Ulnar deviation of the wrist, Clinodactyly |
OMIM:618577 |
| Gm1 Gangliosidosis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Inguinal hernia, Ab... |
ORPHA:354 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver... |
OMIM:314390 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Radial deviation of finger, Talipes equinovarus, Scoliosis, Hemivertebrae, Tapere... |
OMIM:301040 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... |
ORPHA:85451 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Talipes equinovarus, Slender finger |
OMIM:147800 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Scoliosis, Broad thumb, Down-sloping shoulders, Flexion contracture, Short neck, O... |
OMIM:617452 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Genu valgum, Hiatus hernia, Short clavicles, Limited knee extension, Kyp... |
OMIM:304150 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Sandal gap, Tapered finger, Short foot, Obesity, Clinodactyly, Small hand |
OMIM:618089 |
| Secondary Short Bowel Syndrome |
|
Dehydration, Polyphagia, Failure to thrive, Weight loss, Abnormal blood ion concentration, Low pl... |
ORPHA:95427 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Microphthalmia, Lenz Type |
|
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Hyper... |
ORPHA:568 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Scoliosis, Hemivertebrae, Congenital hip dislocation, Syndactyly |
OMIM:104350 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Multiple joint contractures, Hyperlordosis, Kyphosis |
OMIM:128100 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Tapered finger, Talipes equinovarus, Hip dysplasia |
OMIM:617219 |
| Peho-Like Syndrome |
|
Tapered finger |
OMIM:617507 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Aortic regurgitation, Scoliosis, Hyperl... |
OMIM:619698 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia, Increased susceptibility to fractures |
OMIM:304700 |
| Dominant Beta-Thalassemia |
|
Genu valgum, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpu... |
ORPHA:231226 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Inguinal hernia, Metacarpophalangeal joint contracture, Scoliosis, Flexion contracture, Hip dyspl... |
ORPHA:544503 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Clinodactyly of the 5th finger, Tapered finger |
ORPHA:352530 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Abnormality of the hand, Short p... |
ORPHA:508498 |
| Stickler Syndrome |
|
Reduced bone mineral density, Genu valgum, Spondylolisthesis, Joint dislocation, Abnormal form of... |
ORPHA:828 |
| Oslam Syndrome |
|
Radial deviation of finger, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Scoliosis, Short 5th finger,... |
OMIM:305400 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:617143 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Infant Botulism |
|
Anorexia, Hypertension, Cardiac arrest, Hypotension, Hyponatremia, Dysphagia, Xerostomia |
ORPHA:178478 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Patholo... |
ORPHA:221016 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Failure to thrive, Short toe, Flexion contracture, Short neck, Micro... |
ORPHA:98791 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ... |
OMIM:617061 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Finger joint hyperm... |
OMIM:618493 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis, Carpal synostosis |
ORPHA:2010 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Kyphosis, Mesomelia, Platyspon... |
OMIM:616482 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Hyperextensibility of the fi... |
OMIM:151050 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular ... |
ORPHA:100080 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79443 |
| Prolidase Deficiency |
|
Bilateral single transverse palmar creases, Genu valgum, Abnormal hip bone morphology, Arachnodac... |
ORPHA:742 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Scoliosis, Omphalocele, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlappin... |
OMIM:618316 |
| Fliedner-Zweier Syndrome |
|
Scoliosis, Joint hypermobility, Hallux valgus, Kyphosis |
OMIM:620511 |
| Marden-Walker Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Metatarsus adductus, Camptodactyly of... |
ORPHA:2461 |
| Dend Syndrome |
|
Dehydration, Elevated hemoglobin A1c, Clinodactyly of the 4th finger |
ORPHA:79134 |
| Recon Progeroid Syndrome |
|
Joint hypermobility, Arachnodactyly, Proximal placement of thumb, Long thumb |
OMIM:620370 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Optic atrophy, Clinodactyly of the 5th toe, Hypsarrhythmia, Macrotia, Long fingers, Adducted thum... |
OMIM:601110 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Large for gestational age, Sacral dimple, Hyperextensibility of the ... |
OMIM:213980 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hyperlordosis, Scapular winging, Long fingers, Hip contracture, Talipes equinovarus |
ORPHA:169186 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy |
ORPHA:352447 |
| Serotonin Syndrome |
|
Acute kidney injury, Agitation, Hypertension, Hypotension, Restlessness, Tachycardia |
ORPHA:43116 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperfecta, Hip dysplas... |
OMIM:166200 |
| Three M Syndrome 2 |
|
Slender long bone, Short 5th finger, Hyperlordosis, Scapular winging, Prominent calcaneus, Protru... |
OMIM:612921 |
| Marshall-Smith Syndrome |
|
Kyphoscoliosis, Tall stature, Prominent fingertip pads, Kyphosis, Accelerated skeletal maturation... |
OMIM:602535 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Abnormal shoulder morphology, Weight loss, Restlessness |
ORPHA:157941 |
| Alkaptonuria |
|
Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Joint stiffness, A... |
ORPHA:56 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Kyphoscoliosis, Partial duplication of the phalanx of hand, Mixed hearing impairment, Sacral dimp... |
OMIM:616331 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Tapered finger, Long hallux |
OMIM:619854 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi... |
OMIM:603116 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular ... |
ORPHA:100082 |
| Sponastrime Dysplasia |
|
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Mesomelia, Metaphyseal irregularity,... |
ORPHA:93357 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... |
ORPHA:2502 |
| Fucosidosis |
|
Lipoatrophy, Anterior beaking of lumbar vertebrae, Kyphosis |
ORPHA:349 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Accelerated skeletal maturat... |
OMIM:618430 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, 2-3 toe syndactyly, Scoliosis, Kyphosis, Postaxial polydactyly, P... |
ORPHA:404440 |
| Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Hyperammonemia, Hypoplastic vertebral bodies, Abnormality of the epi... |
OMIM:618641 |
| Cohen Syndrome |
|
Childhood-onset truncal obesity, Genu valgum, Cubitus valgus, Short metatarsal, Single transverse... |
OMIM:216550 |
| Malan Syndrome |
|
Scoliosis, Long fingers, Overgrowth, Coxa valga |
OMIM:614753 |
| Enteric Anendocrinosis |
|
Dehydration, Portal hypertension |
ORPHA:83620 |
| Srd5A3-Cdg |
|
Palmoplantar keratoderma, Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Hypertrophi... |
ORPHA:309854 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Camptodactyly, Osteoporosis, Kyphosis, Arachnodactyly, Disproportionate tall stat... |
ORPHA:3063 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... |
ORPHA:3103 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia |
ORPHA:464453 |
| Mosaic Trisomy 20 |
|
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... |
ORPHA:1724 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Proximal placement of thumb, Scoliosis, Broad thumb, Postaxial polydactyly, Broad ... |
ORPHA:435638 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Hematemesis, Reduced bone mineral density, Melena, Decreased male libido, Hypercalciuri... |
ORPHA:652 |
| Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Pulmonary embol... |
OMIM:185000 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... |
ORPHA:3027 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cupping of metacarpals, Short p... |
ORPHA:163966 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal irregularity, Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Inguinal hernia, H... |
OMIM:253200 |
| Marfan Syndrome |
|
Kyphoscoliosis, Limited elbow extension, Tall stature, Spondylolisthesis, Hammertoe, Genu recurva... |
OMIM:154700 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cervical spinal canal stenosis, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, ... |
OMIM:616007 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Genu valgum, Hypochromic microcytic anemia, Abnormality of iron homeostasis,... |
ORPHA:231214 |
| Lamb-Shaffer Syndrome |
|
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia |
ORPHA:530983 |
| Distal Deletion 19P |
|
Vaginal hernia, Arachnodactyly, Umbilical hernia, Long toe, Keloids |
ORPHA:96129 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney |
ORPHA:634 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Camptodactyly, Macrotia, Posteriorly rotated ears, Clinodactyly, Talipes equinovar... |
OMIM:619980 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Scoliosis, Kyphosis, Inguinal hernia |
ORPHA:261190 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Scoliosis, Hemivertebrae, Limitation... |
ORPHA:99776 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Hemivertebrae, Short palm, Short middle ph... |
OMIM:156200 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure,... |
ORPHA:97287 |
| Meester-Loeys Syndrome |
|
Broad distal phalanx of finger, Cervical spine instability, Camptodactyly, Arachnodactyly, Joint ... |
OMIM:300989 |
| Acute Radiation Syndrome |
|
Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia |
ORPHA:454831 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Talipes equinovarus, Short neck, Clinodactyly of the 5th finger, Lumbar hemivertebrae |
OMIM:619859 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Tachycardia |
ORPHA:70587 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Scoliosis, Hyperlipidemia, Compulsive behaviors, Polyphagia, Enuresis, Hyponatremia, ... |
ORPHA:293987 |
| Gm1 Gangliosidosis Type 1 |
|
Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Platyspondy... |
ORPHA:79255 |
| Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persis... |
OMIM:612561 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Kyphosis, B... |
ORPHA:1507 |
| Spinocerebellar Ataxia 47 |
|
Low-set ears, Tapered finger, Clinodactyly, Small hand |
OMIM:617931 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Low-set ears, Clinodactyly of the 5th finger, Clinodactyly |
OMIM:300997 |
| Pituitary Apoplexy |
|
Normochromic anemia, Hypertension, Impotence, Hypotension, Hypergonadotropic hypogonadism, Hypona... |
ORPHA:95613 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... |
OMIM:304120 |
| Melnick-Needles Syndrome |
|
Kyphoscoliosis, Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the ... |
OMIM:309350 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydact... |
OMIM:258860 |
| Atypical Werner Syndrome |
|
Rocker bottom foot, Lipoatrophy, Generalized lipodystrophy, Osteolytic defects of the phalanges o... |
ORPHA:79474 |
| Imagawa-Matsumoto Syndrome |
|
Large hands, Clinodactyly, Camptodactyly |
OMIM:618786 |
| Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Hajdu-Cheney Syndrome |
|
Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Umbil... |
ORPHA:955 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration |
ORPHA:313 |
| Neonatal Marfan Syndrome |
|
Lipoatrophy, Increased arm span, Arachnodactyly, Long fingers, Flexion contracture, Adducted thum... |
ORPHA:284979 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, Tall stature, Vertebral compression fracture, Talipes equinovarus, Hyperextensibi... |
OMIM:309583 |
| Rett Syndrome |
|
Scoliosis, Short foot, Kyphosis |
OMIM:312750 |
| Glass Syndrome |
|
Anterior tibial bowing, Inguinal hernia, Camptodactyly, Arachnodactyly, Talipes equinovarus |
OMIM:612313 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C... |
OMIM:105650 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93325 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Sclerosis of sku... |
OMIM:130720 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, Iliac crest se... |
ORPHA:93317 |
| Trichorhinophalangeal Syndrome, Type I |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Protruding ear, Ivory epiphyses of the... |
OMIM:190350 |
| Timothy Syndrome |
|
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Bilateral single transverse palmar creases, Underdeveloped tragus, Low-set ea... |
OMIM:618804 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Recurrent otitis media, Single transverse palmar crease, Low-set ears, Camptodactyly, Hearing imp... |
OMIM:613604 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Scoliosis, Short neck, Hip contracture, Tapered finger |
OMIM:616801 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Tapered f... |
ORPHA:476126 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Radial deviation of finger, Clinodactyly |
OMIM:188025 |
| C Syndrome |
|
Radial deviation of finger, Dislocated radial head, Scoliosis, Postaxial hand polydactyly, Short ... |
OMIM:211750 |
| Temple Syndrome |
|
Recurrent otitis media, Scoliosis, Clinodactyly, Posteriorly rotated ears, Short foot, Small hand |
OMIM:616222 |
| Microscopic Polyangiitis |
|
Congestive heart failure, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Vasculitis, Per... |
ORPHA:727 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, General... |
OMIM:245600 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long fingers, Clinodactyly of the 5th finger, Tapered finger, Joint contracture of the 5th finger |
OMIM:614407 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Abnormality of the hand, Proximal muscle weakness in upper limbs, Decreased nerve conduction velo... |
ORPHA:101085 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal... |
OMIM:235200 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... |
ORPHA:896 |
| Osteogenesis Imperfecta |
|
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... |
ORPHA:666 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Ingui... |
ORPHA:221120 |
| Mend Syndrome |
|
Sacral dimple, Wide anterior fontanel, 2-3 toe syndactyly, Abnormal auditory evoked potentials, L... |
ORPHA:401973 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Vertebral compression fracture, Hypokalemia, Kyphosis, Osteoporosis, Biconcave vertebral bodies, ... |
OMIM:219090 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Ulnar deviated club hands, Low-set ears, Broad thumb, Swan neck-like deformities of the fingers, ... |
OMIM:619880 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Hip subluxation, Long fingers, Hip dysplasia, Clinodactyly, Hip dislocation |
ORPHA:447980 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor... |
OMIM:148050 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Pathologic fracture, Scoliosis, Elbow flexion contracture, Hypoplasia of the capital ... |
OMIM:612394 |
| Microsporidiosis |
|
Anorexia, Urethritis, Myocarditis, Prostatitis, Cachexia, Dehydration, Decreased proportion of CD... |
ORPHA:2552 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
| Jaberi-Elahi Syndrome |
|
Scoliosis, Kyphosis, Joint stiffness, Hand clenching, Joint hypermobility, Talipes equinovarus |
OMIM:617988 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Neuhauser Syndrome |
|
Genu recurvatum, Arachnodactyly, Genu valgum, Osteopenia |
OMIM:249310 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Acute kidney injury, Hyperkalemia, Hypocalcemia, Oliguria, Anuria, Nephrotic range p... |
ORPHA:544482 |
| Spherocytosis, Type 1 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... |
ORPHA:96334 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Pulmonary edema, Hypotension, Shock |
ORPHA:70578 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Overlapping toe, Scoliosis, Limb joint contracture, Tapered finger |
OMIM:300004 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Loeys-Dietz Syndrome 3 |
|
Spondylolisthesis, Arachnodactyly, Umbilical hernia, Cystocele, Craniosynostosis, Joint hypermobi... |
OMIM:613795 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Scoliosis, Kyphosis, Genu varum |
ORPHA:1969 |
| Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Tracheobronchomalacia, Split hand, Kyphosis, Flexion contracture, Umbilical hern... |
OMIM:309900 |
| Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Renal Fanconi syndrome, Pathologic fracture, Joint hypermobility, Stage 5 chronic kidne... |
OMIM:309000 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Congestive heart failure, Aortic regurgitation, Heart murmur |
ORPHA:1054 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Scoliosis, Tapered finger |
OMIM:618825 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Scoliosis, Camptodactyly, Omphalocele, Broad thumb, Short phalanx of finger, Kypho... |
OMIM:616894 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis, Truncal obesity, Kyphosis |
OMIM:219080 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Sac... |
ORPHA:435938 |
| Clark-Baraitser Syndrome |
|
Large earlobe, Low-set ears, Clinodactyly, Sandal gap |
OMIM:617752 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Slender finger |
OMIM:250940 |
| Dpagt1-Cdg |
|
Scoliosis, Camptodactyly, Arachnodactyly, Flexion contracture, Lipodystrophy, Clinodactyly |
ORPHA:86309 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Abnormal T-wave, Oral-pharyngeal dysphagia, Cardiomyopathy, Dehydration, Impulsivity, F... |
ORPHA:2131 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Hypertension, Compulsive behaviors, Hypotension, Urinary bladder sphincter dysfunct... |
ORPHA:93256 |
| Leptospirosis |
|
Anorexia, Acute kidney injury, Hyperproteinemia, Pleural effusion, Hypotension, Retinal hemorrhag... |
ORPHA:509 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Long fibula |
ORPHA:935 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Acute kidney injury, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnorm... |
ORPHA:466650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Overlapping fingers, Inguinal hernia, Finger syndactyly, Broad distal phalanx of the toes, 2-3 to... |
ORPHA:464738 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Dehydration, Increased circulating renin level |
OMIM:620126 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Ovoid vertebral bodies, Slender metacarpals, Platyspondyly, Coxa valga |
OMIM:620601 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Arachnodactyly |
ORPHA:2707 |
| Familial Visceral Myopathy |
|
Camptodactyly of finger, Arachnodactyly, Umbilical hernia |
ORPHA:2604 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Scolios... |
OMIM:618050 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis, Truncal obesity, Kyphosis |
OMIM:610475 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... |
OMIM:611490 |
| Poliomyelitis |
|
Anorexia, Agitation, Stiff neck, Hypertension, Hypotension, Hypovolemic shock, Dysphagia |
ORPHA:2912 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Scoliosis, Thoracic kyphosis, Overgrowth, Obesity, Short neck, Tapered finger |
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 |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Brachydactyly, Cubitus valgus |
OMIM:620237 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Scoliosis, Tapered finger, Flexion contracture |
OMIM:616505 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Recurrent mandibular subluxations, Inguinal hernia, Wide anterior fontanel, Atrophic ... |
OMIM:225410 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Rocker bottom foot, Hyperextensibility of the finger joints, Single transverse palmar crease, Pos... |
ORPHA:521426 |
| Tetrasomy 5P |
|
Clinodactyly of the 5th finger, Short hallux, Wide anterior fontanel, Long fingers, Pericallosal ... |
ORPHA:3309 |
| Periventricular Nodular Heterotopia 1 |
|
Short finger, Clinodactyly, Syndactyly |
OMIM:300049 |
| Pitt-Hopkins Syndrome |
|
Sacral dimple, Cupped ear, Single transverse palmar crease, Scoliosis, Prominent fingertip pads, ... |
OMIM:610954 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Fu... |
OMIM:607323 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Scoliosis, Kyphosis, Flexion contracture, Hip dysplasia, Short foot, Small hand |
ORPHA:500055 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Genu recurvatum, Joint hypermobility, Short 3rd toe, Tapered finger, Short 4th toe |
OMIM:618707 |
| Muenke Syndrome |
|
Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa... |
ORPHA:53271 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
| Braddock-Carey Syndrome 2 |
|
Hearing impairment, Atresia of the external auditory canal, 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 |
|
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Joint dislocation, Tracheomalac... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Joint dislocation, Tracheomalac... |
ORPHA:363958 |
| Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Hemivertebrae, Ankle clonus |
OMIM:614688 |
| Monosomy 9Q22.3 |
|
Polydactyly, Palmar pits, Abnormality of the vertebral column, Metopic synostosis, Kyphosis, Abno... |
ORPHA:77301 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Multifocal epileptiform discharges, Abnormality of the hand, Low-set ears, Camptodactyly, Hearing... |
ORPHA:369891 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Scoliosis, Osteoporosis, Kyphosis, Joint hypermobility |
OMIM:619718 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis, Prominent metopic ridge |
ORPHA:261144 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Kyphoscoliosis, Bilateral single transverse palmar creases, Rocker bottom foot, Clinodactyly of t... |
ORPHA:488642 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hepatomegaly, Hypophosphatemia |
OMIM:605911 |
| Geleophysic Dysplasia 1 |
|
Osteopenia, Short long bone, Wrist flexion contracture, Short foot, Irregular capital femoral epi... |
OMIM:231050 |
| Noonan Syndrome 14 |
|
Limited elbow extension, Deep palmar crease, Cubitus valgus, Scapular winging, Kyphosis, Short ne... |
OMIM:619745 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndacty... |
OMIM:134780 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Tapered finger, Brachydactyly |
ORPHA:317 |
| 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 |
|
Fused cervical vertebrae, Inguinal hernia, Single transverse palmar crease, Thin ribs, Cleft vert... |
ORPHA:83617 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Oligozoospermia, Oligomenorrhea, Hypogonadism, Amenorrhea |
ORPHA:91351 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint hypermobility, Arachnodactyly, Overgrowth |
OMIM:219100 |
| Ring Chromosome 10 Syndrome |
|
Short neck, Tapered finger, Sandal gap |
ORPHA:1438 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas... |
OMIM:184705 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypophosphatemia |
OMIM:616026 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Scoliosis, Clinodactyly, Short foot, Small hand |
ORPHA:96184 |
| Cockayne Syndrome Type 2 |
|
Scarring, Scoliosis, Kyphosis, Enamel hypoplasia, Flexion contracture |
ORPHA:90322 |
| 2P15P16.1 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Sandal gap, Inguinal hernia, Scoliosis, Kyphosis, Pro... |
ORPHA:261349 |
| Apert Syndrome |
|
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Finger synd... |
OMIM:101200 |
| Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Enamel hypoplasia, Flexion contracture, Hip dysplasia,... |
OMIM:619293 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Increased s... |
ORPHA:216866 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Talipes equinovarus, Congenital contracture |
OMIM:619036 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Scarring, Talipes equinovarus, Atrophic scars, Scoliosis, Arachnodactyly, Distal arthrogryposis, ... |
OMIM:601776 |
| Cerebellofaciodental Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ... |
OMIM:616202 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... |
ORPHA:57777 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Hypokalemia, Dehydration, Hypochloremia, Increased circulating renin level, Hypon... |
OMIM:214700 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Microtia, Low-set ears, Clinodactyly |
ORPHA:357175 |
| Kabuki Syndrome |
|
Butterfly vertebrae, Abnormal form of the vertebral bodies, Small hand, Scoliosis, Hemivertebrae,... |
ORPHA:2322 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... |
OMIM:266200 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Arachnodactyly, Camptodactyly, Hip dislocation |
OMIM:617729 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Hypertension, Pleural effusion, Pulmonar... |
OMIM:606721 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Kyphosis, Postaxial polydactyly, Long finger... |
OMIM:617527 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Small hand, Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia |
OMIM:618672 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Long-Olsen-Distelmaier Syndrome |
|
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... |
OMIM:620609 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Sacral dimple, Inguinal hernia, Scoliosis, Kyphosis, Congenital ... |
OMIM:609029 |
| Loeys-Dietz Syndrome |
|
Tall stature, Joint dislocation, Scoliosis, Camptodactyly of finger, Arachnodactyly, Joint hyperm... |
ORPHA:60030 |
| Lassa Fever |
|
Back pain, Dysphagia, Menometrorrhagia, Oliguria, Facial edema, Shock |
ORPHA:99824 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Protruding ear, Clinodactyly of the 5th finger, Short metatarsal, S... |
ORPHA:96148 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior fontanel, Delayed cranial sut... |
ORPHA:85199 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Tapered finger |
ORPHA:171829 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Atrophic scars, Camptodactyly, Bilateral talipes equinovarus, Slender finger, Long fingers, Atypi... |
OMIM:618343 |
| Duplication Of Urethra |
|
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... |
ORPHA:237 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Ky... |
OMIM:618223 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Papillon-Lefèvre Syndrome |
|
Palmoplantar keratoderma, Arachnodactyly, Palmoplantar hyperkeratosis, Cigarette-paper scars |
ORPHA:678 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Single transverse palmar crease, Scoliosis, 2-3 toe syndactyly, Kyphosis |
OMIM:616449 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho... |
OMIM:307800 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Bilateral talipes equinovarus, H... |
OMIM:617807 |
| Noonan Syndrome 13 |
|
Limited elbow extension, Recurrent otitis media, Cubitus valgus, Scoliosis, Tapered finger, Low-s... |
OMIM:619087 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Scoliosis, K... |
ORPHA:558 |
| Chromosome 9P Deletion Syndrome |
|
Clinodactyly of the 5th toe, Inguinal hernia, Sandal gap, Scoliosis, Clinodactyly of the 4th toe,... |
OMIM:158170 |
| Alpha-Mannosidosis, Infantile Form |
|
Joint stiffness, Disproportionate tall stature, Joint hypermobility, Craniosynostosis, Thickened ... |
ORPHA:309282 |
| Foxp1 Syndrome |
|
Hypoplastic helices, Recurrent otitis media, Single transverse palmar crease, Prominent fingertip... |
ORPHA:391372 |
| Loeys-Dietz Syndrome 1 |
|
Spondylolisthesis, Inguinal hernia, Scoliosis, Postaxial hand polydactyly, Cervical spine instabi... |
OMIM:609192 |
| Loeys-Dietz Syndrome 2 |
|
Spondylolisthesis, Scoliosis, Absent distal phalanges, Osteoporosis, Camptodactyly, Postaxial pol... |
OMIM:610168 |
| Hereditary Angioedema Type 1 |
|
Edema of the dorsum of hands, Hypotension, Tongue edema, Intestinal edema, Pharyngeal edema, Dysp... |
ORPHA:100050 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Sandal gap, Prominent fingertip pads, Low-set ears, Camptodactyly, Broad thumb, Mesomelia, Broad ... |
OMIM:618529 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Hype... |
OMIM:617052 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Triphalangeal thumb, Osteoporosis, Kyphosis, Decreased palmar creases, Thenar muscle ... |
ORPHA:2232 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
ORPHA:42 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Obesity, Short toe, Brachydac... |
OMIM:620072 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Increased vertebral height, Slender long bone, Single transverse palmar ... |
OMIM:613385 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... |
OMIM:612422 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Abnormal thumb morphology, Inguinal hernia |
ORPHA:2719 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Microtia, Low-set ears, Clinodactyly |
OMIM:615162 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Joint hypermobility, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Camptodactyly |
OMIM:617333 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Scoliosis, Microtia, Low-set ears, Metaphyseal dysplasia, Posteriorly rotated ears, Short neck, C... |
OMIM:618336 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology... |
OMIM:612301 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Hypotension, Hyponatremia, Severe B lymphocytopenia, Failure to t... |
ORPHA:293978 |
| Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Scoliosis, Long fingers, Large hands, Craniosynostosis |
OMIM:613174 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... |
OMIM:201475 |
| Autosomal Dominant Robinow Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Finger synd... |
ORPHA:3107 |
| Trisomy 10P |
|
Abnormality of the hand, Ulnar deviated club hands, EEG with burst suppression, Low voltage EEG, ... |
ORPHA:171929 |
| You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Hearing impairment, Clinodactyly, Brachydactyly |
OMIM:616954 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Split hand, Tapered finger, Intrinsic hand mu... |
OMIM:618569 |
| Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... |
ORPHA:83451 |
| Infantile Liver Failure Syndrome 1 |
|
Long fingers, Long toe |
OMIM:615438 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Overfolded helix, Low-set ears, Hearing impairment,... |
OMIM:618950 |
| Mucolipidosis Type Ii |
|
Abnormal long bone morphology, Inguinal hernia, Knee flexion contracture, Limited wrist movement,... |
ORPHA:576 |
| Myhre Syndrome |
|
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, 2-... |
OMIM:139210 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint hypermobility, Scoliosis, Kyphosis, Genu recurvatum |
ORPHA:364028 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the toes, Scoliosis, Elbow f... |
OMIM:619194 |
| Cog1-Cdg |
|
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Short long bone, Flat acetabular roo... |
ORPHA:263508 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Acrofacial Dysostosis 1, Nager Type |
|
Radial deviation of finger, Absent thumb, Absent radius, Overlapping toe, Clinodactyly, Hip dislo... |
OMIM:154400 |
| Thakker-Donnai Syndrome |
|
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
| Cowden Syndrome 5 |
|
Subcutaneous lipoma, Scoliosis, Kyphosis, Palmoplantar hyperkeratosis |
OMIM:615108 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Prominent metopic ridge, Postaxial polydactyly, Overlapping toe, Tapered finger |
OMIM:613792 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Scoliosis, Tapered finger, Clinodactyly, Camptodactyly |
OMIM:619576 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Epispadias, Platyspondyly, Hypospadias, Craniofacial hyperostosis... |
ORPHA:2588 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Prominent fingertip pads, Brachydactyly, Short 5th finger, Hallux valgus, Tap... |
ORPHA:485405 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Macrotia, Short neck, Clinodactyly, Talipes equinovarus |
OMIM:616789 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Hemivertebrae, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:264480 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Kyphoscoliosis, Microtia, Finger joint contracture, Symphalangism of the thumb, Increased femoral... |
OMIM:620494 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Microtia, Low-set ears, Symphalangism of the thumb, Syndactyly, C... |
ORPHA:1439 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Vici Syndrome |
|
Abnormal posturing, Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kinas... |
OMIM:242840 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Short finger, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Inguinal hernia, Sing... |
OMIM:300998 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubine... |
OMIM:227810 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Adducted thumb, Flexion contracture, Slender finger |
OMIM:300243 |
| Van Maldergem Syndrome 1 |
|
Short 4th metacarpal, Sacral dimple, Short clavicles, Scoliosis, Sensorineural hearing impairment... |
OMIM:601390 |
| Van Maldergem Syndrome 2 |
|
Short 4th metacarpal, Hip subluxation, Sacral dimple, Short clavicles, Scoliosis, Sensorineural h... |
OMIM:615546 |
| Marshall Syndrome |
|
Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ... |
OMIM:154780 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Hemivertebrae, Talipes equino... |
ORPHA:93929 |
| Sandifer Syndrome |
|
Hematemesis, Anemia, Decreased cervical spine mobility, Abnormal posturing |
ORPHA:71272 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Joint hypermobility, Arachnodactyly, Curved middle phalanx of the 4th toe |
ORPHA:276413 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Recurrent hand flapping, Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, J... |
OMIM:617101 |
| Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Hypercalciuria, Dehydration, Failure to thrive, Hepatosple... |
OMIM:219700 |
| Blomstrand Lethal Chondrodysplasia |
|
Hydrops fetalis, Platyspondyly, Rhizomelia, Polyhydramnios, Flared metaphysis, Increased bone min... |
ORPHA:50945 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Kyphoscoliosis, Sensorineural hearing impairment, Camptodactyly, Brachydactyly, Clinodactyly, Tal... |
ORPHA:397709 |
| Neuraminidase Deficiency |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:255120 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, U... |
OMIM:266920 |
| Ritscher-Schinzel Syndrome 4 |
|
Scoliosis, Limited knee extension, Narrow palm, Ulnar deviation of the hand, Hip dysplasia, Joint... |
OMIM:619435 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cervical spinal canal stenosis, Clinodactyly of the 5th finger, Scoliosis, Bilateral talipes equi... |
OMIM:620224 |
| Robinow Syndrome |
|
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Mesomelia, Bifid distal phala... |
ORPHA:97360 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Kyphosis, Ankle clonus |
ORPHA:88644 |
| Vipoma |
|
Anorexia, Hypokalemia, Normochromic anemia, Dehydration, Ascites, Hypercalcemia, Weight loss |
ORPHA:97282 |
| Diamond-Blackfan Anemia |
|
Normochromic anemia, Macrocytic dyserythropoietic anemia, Absent thumb, Leukopenia, Nonimmune hyd... |
ORPHA:124 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Hypertension, Shor... |
OMIM:210710 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis, Truncal obesity, Kyphosis |
OMIM:610489 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Polydactyly, Infertility, Hypotension, Abnormal digit morphology, Osteoporosis of ver... |
ORPHA:95494 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Cowden Syndrome 6 |
|
Subcutaneous lipoma, Scoliosis, Kyphosis, Palmoplantar hyperkeratosis |
OMIM:615109 |
| Ruijs-Aalfs Syndrome |
|
Single transverse palmar crease, Thoracic kyphoscoliosis, Elbow flexion contracture, Clinodactyly... |
OMIM:616200 |
| Prader-Willi Syndrome |
|
Osteopenia, Acromicria, Radial deviation of finger, Genu valgum, Scoliosis, Short foot, Kyphosis,... |
OMIM:176270 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration |
OMIM:143860 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Inguinal hernia, Broad 2nd toe, Hal... |
OMIM:601358 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Multifocal epileptiform discharges, Clinodactyly, Anteverted ears, Syndactyly |
OMIM:618087 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Proximal placement of thumb, Slender finger |
OMIM:610536 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Vaginitis, Hemolytic-uremic syndrome, Acute myeloid leukemia, Recurrent urinary... |
ORPHA:2968 |
| X Small Rings |
|
Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn... |
ORPHA:96201 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of toe, Short toe, Joint hypermobility, Truncal obesi... |
ORPHA:127 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Cubitus valgus, Craniosynostosis, Tracheomalacia, Single transverse palmar crease,... |
ORPHA:96121 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Rhizomelia, Short metatarsal, Microtia, Low-set ears, Short metacarpal, Short... |
OMIM:614813 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Overlapping fingers, Knee flexion contracture, Bilateral talipes equinovarus |
OMIM:619708 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Radial deviation of finger, Clinodactyly of the 5th finger, Prox... |
OMIM:613406 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the kidney, Clinodactyly of the 5th finger, Anemia, Hypoplasia of penis, Recurrent... |
ORPHA:847 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Prominent protruding coccyx, Joint hypermobility, Scoliosis, Kyphosis,... |
OMIM:300966 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... |
OMIM:102700 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... |
OMIM:617713 |
| Acute Liver Failure |
|
Acute kidney injury, Agitation, Gastrointestinal hemorrhage, Hypotension, Hyperammonemia, Thrombo... |
ORPHA:90062 |
| 16Q24.3 Microdeletion Syndrome |
|
Scoliosis, Proximal placement of thumb, Kyphosis, Hip dysplasia |
ORPHA:261250 |
| Cohen-Gibson Syndrome |
|
Osteopenia, Tall stature, Flared metaphysis, Hypoplastic iliac wing, Scoliosis, Overgrowth, Campt... |
OMIM:617561 |
| Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Hemivertebrae, Absence of the sa... |
ORPHA:3412 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Broad thumb, Macrotia, Long hallux, Hallux valgus, Clinodactyly |
OMIM:620194 |
| W Syndrome |
|
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bowing, Elbow ... |
ORPHA:2804 |
| Opitz-Kaveggia Syndrome |
|
Radial deviation of finger, Sacral dimple, Single transverse palmar crease, Sensorineural hearing... |
OMIM:305450 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Dec... |
ORPHA:909 |
| Trisomy 17P |
|
Clinodactyly of the 5th finger, Scoliosis, Flexion contracture, Short neck, Tapered finger |
ORPHA:261290 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Absent thumb, Short thu... |
OMIM:609053 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Scapular winging, Lumbar scoliosis, Overweight, Lumbar hyperlord... |
OMIM:617796 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Optic atrophy, Palmoplantar keratoderma, Clinodactyly of the 5th ... |
ORPHA:2710 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Deep palmar crease, Inguinal hernia, Slender long bone, Wide anterior fontanel, Scoli... |
OMIM:278250 |
| Traboulsi Syndrome |
|
Short finger, Cubitus valgus, Arachnodactyly, Broad hallux, Joint hypermobility |
OMIM:601552 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Single transverse pa... |
ORPHA:73272 |
| Methylcobalamin Deficiency Type Cble |
|
Hearing impairment, Scoliosis, Clinodactyly, Syndactyly |
ORPHA:2169 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Hand muscle atrophy, Kyphosis, Ankle clonus |
OMIM:211530 |
| Alg12-Cdg |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal adipose tissue morphology, ... |
ORPHA:79324 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Congenital Erythropoietic Porphyria |
|
Increased urinary porphobilinogen, Purple urine, Red-brown urine, Reticulocytosis, Unconjugated h... |
ORPHA:79277 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Low-set ears, Hearing impairment, Brachydactyly, Short distal phalanx of finger, C... |
OMIM:614261 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Low-set e... |
OMIM:277170 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Diaphyseal dysplasia, Increased intervertebral space, Broad ischia, Broad femoral neck, Short pal... |
OMIM:619727 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... |
OMIM:263650 |
| Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Microtia, Posteriorly rotated ears, 3-4 finger cutaneous syndactyly... |
OMIM:164220 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... |
OMIM:227330 |
| Rett Syndrome, Congenital Variant |
|
Scoliosis, Kyphosis, Talipes equinovarus |
OMIM:613454 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hemivertebrae |
OMIM:620331 |
| Mend Syndrome |
|
Polydactyly, Sacral dimple, 2-3 toe syndactyly, Kyphosis, Long fingers, Broad hallux, Overlapping... |
OMIM:300960 |
| Hereditary Spherocytosis |
|
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero... |
ORPHA:822 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Low-set ears, Camptodactyly, Hand clenching, Posteriorly rotated ears, Adduc... |
OMIM:617822 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Optic atrophy, Deep palmar crease, Single transvers... |
OMIM:311900 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| 22Q11.2 Deletion Syndrome |
|
Arthritis, Scoliosis, Multiple suture craniosynostosis, Foot polydactyly, Arachnodactyly, Obesity... |
ORPHA:567 |
| Coffin-Lowry Syndrome |
|
Lumbar kyphosis, Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow ... |
OMIM:303600 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Scoliosis, Kyphosis, Osteoporosis, Flexion contracture, Hip dysplasia, Short foot, Sm... |
ORPHA:398069 |
| Simpson-Golabi-Behmel Syndrome |
|
Tall stature, Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Scoliosis, Ver... |
ORPHA:373 |
| Nizon-Isidor Syndrome |
|
Thoracolumbar kyphosis, Long fingers, Prominent fingertip pads |
OMIM:618872 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Hypophosphatemia |
ORPHA:2088 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Tapered finger |
OMIM:181600 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Scoliosis, Slender finger, Long fingers, Tibial torsion, Long toe, Talipes equinovarus |
OMIM:613355 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Short neck, Long fingers, Small hypothenar eminence, C... |
ORPHA:96092 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Abnormal form of the vertebr... |
ORPHA:233 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Tapered finger, Interphalangeal thumb joint contracture |
OMIM:613870 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Tongue thrusting |
OMIM:608643 |
| Mgat2-Cdg |
|
Osteopenia, Scoliosis, Kyphosis, Brachydactyly |
ORPHA:79329 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Ulnar deviation of the 3rd finger, Abnormality of the hand, Proximal placement of thumb, Foot joi... |
ORPHA:456312 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe |
OMIM:600430 |
| Congenital Tricuspid Stenosis |
|
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... |
ORPHA:95459 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Infertility, Hypotension, Osteoporosis of vertebrae, Amenorrhea, Hypogonadotropic hyp... |
ORPHA:90695 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Joint hypermobility, Long fingers, Long toe, Broad distal phalanx of finger |
ORPHA:363686 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Scoliosis, Hemivertebrae, Femoral bowing, Ca... |
OMIM:201750 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Sensorineural hearing impairment, Ectrodactyly, Clinodactyly |
OMIM:147950 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly |
OMIM:119580 |
| 20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Talipes equinovarus, Short lower limbs, Hallux valgus, Tapered finger, Abnormal li... |
ORPHA:261311 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... |
ORPHA:324410 |
| Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone... |
OMIM:617159 |
| Hereditary Elliptocytosis |
|
Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, Congenital hemolyt... |
ORPHA:288 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Scapular winging, Tapered finger, Low-set ears, Clinodactyly, Down-slop... |
OMIM:615560 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Urinary incontinence, Titubation, Dysphagia |
ORPHA:225147 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Limited elbow extension, Bilateral single transverse palmar creases, Increased arm span, Axillary... |
OMIM:620450 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... |
OMIM:210250 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Short ribs, Short metacarpal, Split foot, Umbilical hernia, Join... |
OMIM:305600 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Fetal megacystis, Renal cortical... |
OMIM:619351 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... |
ORPHA:1422 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Inguinal hernia, Rib fusion, Tapered ... |
ORPHA:544488 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia |
ORPHA:1393 |
| Bohring-Opitz Syndrome |
|
Sacral dimple, Deep palmar crease, Dislocated radial head, Mesomelic/rhizomelic limb shortening, ... |
OMIM:605039 |
| Yellow Fever |
|
Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill... |
ORPHA:99829 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Hiatus hernia |
OMIM:601162 |
| Developmental And Epileptic Encephalopathy 2 |
|
Short foot, Scoliosis, Tapered finger, Small hand |
OMIM:300672 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, EEG with spike-wave complexes, EEG with polyspike wave complexes, Scoliosi... |
ORPHA:247262 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Wide anterior fontanel, Abnormal pinna morphology, Short palm, Synda... |
OMIM:217980 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Slender long bone, Hemivertebrae, Hyperextensibility at elbow, Sagittal craniosyn... |
ORPHA:500150 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormality of iron homeostasis, Cardiomyopathy, Splenomegaly, Cardiomegaly, Increa... |
ORPHA:465508 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Block vertebrae |
OMIM:304050 |
| Netherton Syndrome |
|
Angioedema, Hypereosinophilia, Failure to thrive, Hypernatremic dehydration |
OMIM:256500 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
| Tarp Syndrome |
|
Rocker bottom foot, Optic atrophy, Low-set, posteriorly rotated ears, Finger syndactyly, Single t... |
ORPHA:2886 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... |
ORPHA:99867 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Cowden Syndrome 1 |
|
Subcutaneous lipoma, Scoliosis, Kyphosis, Palmoplantar hyperkeratosis |
OMIM:158350 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... |
ORPHA:93 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Broad thumb, Broad hallux phalanx, ... |
ORPHA:251071 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Kyphoscoliosis, Madelung deformity, Scoliosis, Kyphosis, Joint hypermobility |
OMIM:301111 |
| Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Inguinal hernia, Scoliosis, Tapered finger, Camptodactyly, Overlappi... |
OMIM:616737 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Genu valgum, Talipes equinovarus, Broad long bone diaphyses, Hyperlordos... |
OMIM:301066 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short fo... |
OMIM:157800 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... |
OMIM:300257 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Delayed ossification of carpal bones, Short toe, Tapered finger |
OMIM:239300 |
| Micro Syndrome |
|
Joint stiffness, Scoliosis, Kyphosis |
ORPHA:2510 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Sacral dimple, Clinodactyly, Kyphosis |
OMIM:620185 |
| Ohdo Syndrome, X-Linked |
|
Scoliosis, Microtia, Low-set ears, Hearing impairment, Ulnar deviation of the hand, Posteriorly r... |
OMIM:300895 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion |
OMIM:206900 |
| Fanconi Anemia, Complementation Group U |
|
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... |
OMIM:617247 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Single transverse palmar crease, Scoliosis, Prominent fingertip pads, Broad thumb, Joint hypermob... |
OMIM:617804 |
| Radio-Tartaglia Syndrome |
|
Scoliosis, Obesity, Tapered finger, Brachydactyly |
OMIM:619312 |
| Xylt1-Cdg |
|
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Clinodactyl... |
ORPHA:370930 |
| X-Linked Intellectual Disability, Pai Type |
|
Tapered finger, Inguinal hernia |
ORPHA:85322 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... |
ORPHA:3109 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Spina bifida occulta, Scoliosis, Overfolded helix, Low-set ears, Camptodactyly, Posteriorly rotat... |
OMIM:617360 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Rocker bottom foot, Proximal placement of hallux, Sacral dimple, Proximal placement of thumb, Ing... |
OMIM:613458 |
| Hamamy Syndrome |
|
Osteopenia, Clinodactyly of the 5th finger, Short 2nd finger, Neck pterygia, Tapered finger, Long... |
OMIM:611174 |
| Lissencephaly 6 With Microcephaly |
|
Single transverse palmar crease, Tapered finger |
OMIM:616212 |
| Digeorge Syndrome |
|
Intervertebral disk degeneration, Inguinal hernia, Scoliosis, Femoral hernia, Pilonidal sinus, Um... |
OMIM:188400 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Scoliosis, Short foot, Kyphosis, Short toe, Flexion contracture of fin... |
ORPHA:464311 |
| Galloway-Mowat Syndrome 1 |
|
Talipes equinovarus, Camptodactyly, Slender finger, Hand clenching, Hiatus hernia, Joint contract... |
OMIM:251300 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the wrist, Inguinal hernia, Scoliosis, Genital hernia, Arachnodactyly, Umbilical h... |
ORPHA:285 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Clinodactyly of the 5th finger, Umbilical hernia |
OMIM:618971 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal sternal ossification, Short hallux, Abnormal form of the vertebral bodies... |
OMIM:194190 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
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, Sacral dimple, Curved fingers, Scoliosis, Limitation of joint mobility, Short foot, C... |
ORPHA:480880 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Scoliosis, Camptodactyly, Brachydactyly, Finger clinodactyly, Tapered finger |
OMIM:601353 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Rhizomelia, Proximal placement of thumb, Abnormal metacarpal mor... |
ORPHA:818 |
| Insulin-Like Growth Factor I, Resistance To |
|
Short finger, Radial deviation of finger, Sandal gap, Low-set ears, Short foot, Clinodactyly, Sma... |
OMIM:270450 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones |
OMIM:616831 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Increased femoral anteversion, Scoliosis, Kyphosis |
OMIM:619005 |
| Meier-Gorlin Syndrome 5 |
|
Slender long bone, Small earlobe, Microtia, Low-set ears, Hypoplasia of the capital femoral epiph... |
OMIM:613805 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyl... |
OMIM:263520 |
| Sweeney-Cox Syndrome |
|
Short clavicles, Wide anterior fontanel, 2-5 toe syndactyly, Bilateral talipes equinovarus, Promi... |
OMIM:617746 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hip dysplasia, Tapered finger, Umbilical hernia |
OMIM:616977 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Bilateral single transverse palmar creases, Scoliosis, Broad thumb, Camptodactyly of finger, Tape... |
ORPHA:1236 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... |
ORPHA:228308 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Scoliosis, Short foot, Postaxial polydactyly, Hip dysplasia, Hip dislocation, Tape... |
OMIM:300968 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Sacral dimple, Abnormal pinna morphology, Auricular pit, Hearing impairment... |
OMIM:248340 |
| Deeah Syndrome |
|
Scoliosis, Delayed skeletal maturation, C1-C2 subluxation, Short neck, Overlapping fingers, Cervi... |
OMIM:619004 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Hepatomegaly, Elevated circulating creatinine concentration, Elevated circulatin... |
OMIM:608836 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Recurrent otitis media, Cone-shaped epiphyses of the phalanges of the hand, Microt... |
ORPHA:261323 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Short 4th metacarpal, Bilateral postaxial polydactyly, Polydactyly aff... |
ORPHA:672 |
| Frontometaphyseal Dysplasia 2 |
|
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,... |
OMIM:617137 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Single transverse palmar crease, Broad thumb, Flexion contracture, Joint hypermobility, Toe synda... |
OMIM:619720 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Scarring, Inguinal hernia, Bowing of the long bones, Arachnodact... |
OMIM:614437 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Long fingers, 2-3 toe cutaneous syndactyly, Short neck, Down-sloping shoulders |
OMIM:301091 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... |
ORPHA:79500 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short finger, Tapered finger |
ORPHA:1867 |
| Ring Chromosome 7 Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar crease, Slender finger, 3-4... |
ORPHA:1449 |
| Cowden Syndrome |
|
Lipoma, Bone cyst, Scoliosis, Kyphosis, Brachydactyly, Palmoplantar keratoderma |
ORPHA:201 |
| Viss Syndrome |
|
Rocker bottom foot, Butterfly vertebrae, Genu valgum, Inguinal hernia, Scoliosis, Contracture of ... |
OMIM:619472 |
| Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Hyperactivity, Vesicoureteral reflux, Compulsive behaviors, Pulmonary arterial hyper... |
ORPHA:209905 |
| Cockayne Syndrome A |
|
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... |
OMIM:216400 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac... |
OMIM:261540 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Vertebral segmentation defect, Micromelia, Br... |
ORPHA:87 |
| Peho Syndrome |
|
Tapered finger |
OMIM:260565 |
| Diphallia |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Absent thumb, Abnormal pubic bone morphology |
ORPHA:227 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Flexion contracture of the 2nd finger, Joint contracture of the 5th finger, Thumb contracture, Du... |
ORPHA:324540 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short finger, Broad finger, Single transverse palmar crease, Scoliosis, Short fifth metatarsal, T... |
OMIM:619841 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal her... |
ORPHA:1272 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta |
OMIM:619227 |
| Shprintzen Omphalocele Syndrome |
|
Scoliosis, Lumbar hyperlordosis, Kyphosis, Omphalocele |
OMIM:182210 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity, Tapered finger, Brachydactyly |
OMIM:619680 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Cockayne Syndrome B |
|
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... |
OMIM:133540 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis |
OMIM:612852 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Areflexia of up... |
ORPHA:268882 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Pathologic fracture, Scoliosis, Ky... |
OMIM:208400 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De... |
OMIM:216340 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Kyphosis, Osteopenia |
OMIM:212065 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... |
OMIM:192350 |
| Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Congestive heart failure, Decreased HDL cholesterol concentration, An... |
ORPHA:14 |
| Pitt-Hopkins Syndrome |
|
Short metatarsal, Single transverse palmar crease, Scoliosis, Broad fingertip, Short neck, Finger... |
ORPHA:2896 |
| Proteus Syndrome |
|
Macrodactyly, Lipoma, Abnormal form of the vertebral bodies, Abnormal finger morphology, Calvaria... |
ORPHA:744 |
| Incontinentia Pigmenti |
|
Kyphoscoliosis, Hemivertebrae |
OMIM:308300 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Clinodactyly of the 5th finger, Tapered finger |
OMIM:618829 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad finger, Broad toe, Scoliosis, 2-3 toe syndactyly, Sensorineural hearing impairment, Limb un... |
ORPHA:488632 |
| Alstrom Syndrome |
|
Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Scolio... |
OMIM:203800 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly |
OMIM:603585 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Tricuspid stenosis, Hypotension, Heart murmur, Palpitations |
ORPHA:100079 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Inguinal hernia, Slender long bone, Single transverse palmar crease, Scol... |
ORPHA:444072 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Tapered finger |
OMIM:615803 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Reduced bone mineral density, Kyphosis, Abnormal forearm bone morphology, Splayed toes, Hypermobi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Reduced bone mineral density, Kyphosis, Abnormal forearm bone morphology, Splayed toes, Hypermobi... |
ORPHA:99228 |
| Monosomy X |
|
Reduced bone mineral density, Kyphosis, Abnormal forearm bone morphology, Splayed toes, Hypermobi... |
ORPHA:99226 |
| Turner Syndrome |
|
Reduced bone mineral density, Kyphosis, Abnormal forearm bone morphology, Splayed toes, Hypermobi... |
ORPHA:881 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Scoliosis, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abno... |
ORPHA:90321 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Small thenar eminence, Camptodactyly, Prominent metopic ridge, D... |
OMIM:619148 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Long fingers, Inguinal hernia |
OMIM:614294 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Spinal rigidity, Pectoralis hypoplasia, Scoliosis, Flexion contracture, Tapered finger, Talipes e... |
OMIM:254940 |
| Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Short hallux, Single transverse palmar crease, Small earlobe, Tapered finger, Overfol... |
OMIM:608156 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Kyphoscoliosis, Radial deviation of finger, Genu valgum, Slender finger, Obesity, Clinodactyly, B... |
OMIM:309580 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Hypocalcemia, Hypophosphatemia, Splenomegaly, Abnormal pulmonary valve morphology |
ORPHA:667 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... |
ORPHA:308552 |
| Short Syndrome |
|
Radial deviation of finger, Slender long bone, Sensorineural hearing impairment, Low-set ears, En... |
OMIM:269880 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Overgrowth, Tapered finger |
ORPHA:261652 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Absent antihelix, Microtia, Clinodactyly |
ORPHA:293939 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger |
OMIM:612949 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Sacral dimple, Clinodactyly of the 5th finger, Inguinal hernia, Hyperextensibili... |
OMIM:619503 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Sacral dimple, Clinodactyly of the 5th finger, Sandal gap, Ingui... |
OMIM:135900 |
| Neurofibromatosis Type 1 |
|
Osteopenia, Genu valgum, Abnormal hip bone morphology, Slender long bone, Scoliosis, Kyphosis, Jo... |
ORPHA:636 |
| Plague |
|
Anorexia, Hematemesis, Arthritis, Hypotension, Splenomegaly, Arrhythmia, Tachycardia, Edema |
ORPHA:707 |
| Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyl... |
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 |
|
Short thumb, Abnormal vertebral morphology, Clinodactyly of the 5th finger, Tapered finger |
OMIM:616728 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Scoliosis, Delayed cranial suture closure, 2-3 toe syndactyly, Accelerated skeletal maturation, O... |
OMIM:618653 |
| Periventricular Nodular Heterotopia 9 |
|
Clinodactyly of the 5th finger, Interictal epileptiform activity, Single transverse palmar crease... |
OMIM:618918 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Tapered finger |
ORPHA:401777 |
| 19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Sandal gap, Optic nerve hypoplasia, Low-set ears, Macrotia, Long fingers, Clinodac... |
ORPHA:357001 |
| Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Scoliosis, Kyphosis |
OMIM:266270 |
| Immunodeficiency 59 And Hypoglycemia |
|
Slender finger |
OMIM:233600 |
| Turnpenny-Fry Syndrome |
|
Wide anterior fontanel, Thoracic kyphoscoliosis, Tapered finger, Short sternum, Prominent interph... |
OMIM:618371 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypsarrhythmia, Scoliosis, Tapered finger, Short foot, Camptodactyly, Overfolded helix, Broad hal... |
OMIM:301044 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Acromegaly |
|
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Deep palmar crease, Kyphosis, Sp... |
ORPHA:963 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Short neck, Long fingers |
OMIM:156610 |
| Somatomammotropinoma |
|
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Deep palmar crease, Kyphosis, Sp... |
ORPHA:314769 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Ridged cranial sutures, Scoliosis, Delayed cranial suture closure, Slender finge... |
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 |
|
Abnormality of the hand, Abnormal vertebral morphology, Inguinal hernia, Abnormality of the verte... |
ORPHA:2273 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Abnormality of the hand, Clinodactyly of the 5th finger, Spina bifida occulta... |
ORPHA:508488 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy |
ORPHA:268 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
| Oeis Complex |
|
Hemivertebrae, Congenital hip dislocation, Sacral segmentation defect, Absence of the sacrum, Tal... |
OMIM:258040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Scoliosis, Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st... |
OMIM:300967 |
| Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Wide anterior fontanel, Posta... |
OMIM:200990 |
| Prader-Willi Syndrome Due To Translocation |
|
Clinodactyly of the 5th finger, Scoliosis, Short foot, Bilateral talipes equinovarus, Brachydacty... |
ORPHA:177907 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Broad finger, Short phalanx of finger, Abnormal hand morphology, Small hand |
OMIM:300845 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:614921 |
| Wiedemann-Steiner Syndrome |
|
Abnormality of the hand, Sacral dimple, Rhizomelia, Clinodactyly of the 5th finger, Tapered finge... |
ORPHA:319182 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, Hydrops fetalis, Vasculitis, Autoimmun... |
ORPHA:3261 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Scoliosis, Syndactyly, Brachydactyly, Narrow joint spaces of the ... |
ORPHA:96182 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineura... |
OMIM:602782 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplastic coccygeal vertebrae, Clinodactyly of the 5th finger, Dislocated radial head, Congenit... |
OMIM:619512 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Scoliosis, Inferior pubic ramus hypoplasia, Congenital hip dislocation,... |
OMIM:606170 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Radial deviation of finger, Sacral dimple, Rhizomelia, Duplication of the distal phalanx of hand,... |
OMIM:180700 |
| 1P36 Deletion Syndrome |
|
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Delayed cranial suture c... |
ORPHA:1606 |
| Galloway-Mowat Syndrome 4 |
|
Tapered finger |
OMIM:617730 |
| Developmental And Epileptic Encephalopathy 80 |
|
Short distal phalanx of finger, Triphalangeal thumb, Tapered finger, Talipes equinovarus |
OMIM:618580 |
| Primrose Syndrome |
|
Genu valgum, Reduced bone mineral density, Knee flexion contracture, Narrow iliac wing, Calcifica... |
OMIM:259050 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Mosaic Trisomy 16 |
|
Single transverse palmar crease, Hearing impairment, Short forearm, Syndactyly, Short femoral nec... |
ORPHA:1708 |
| Charge Syndrome |
|
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormality of bone miner... |
ORPHA:138 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Goldberg-Shprintzen Syndrome |
|
Clinodactyly of the 5th finger, Increased femoral anteversion, Short neck, Tapered finger, Small ... |
OMIM:609460 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Short finger, Sacral dimple, Clinodactyly of the 5th finger, Inguinal hernia, Lipoma, Lower-limb ... |
ORPHA:459070 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Scoliosis, Block vertebrae, Hip dysplasia, Small hand |
ORPHA:50 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp... |
OMIM:256520 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Proximal placement of thumb, Inguinal hernia, Scoliosis, Tapered finger, Camptodactyly, Flexion c... |
ORPHA:487796 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Radial deviation of finger, Sandal gap, Scoliosis, Low-set ears, Hearing impairmen... |
OMIM:618164 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the palmar creases, Calcaneovalgus deformity, Prominent metopic ridge, Long finger... |
ORPHA:521445 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Sacral dimple, Osteochondrosis, Inguina... |
ORPHA:268261 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Genu valgum, Hallux valgus, Scoliosis, Calcaneovalgus deformity, Camptodactyly, Arachnodactyly, L... |
ORPHA:261537 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hemivertebrae, Butterfly vertebral arch, Hypoplasia of the ulna |
OMIM:118450 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Clinodactyly of the 5th finger, Single transverse palmar crease, Low-set ears, Round ... |
OMIM:614114 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Limitation of joint mobility, Flexion contracture, Tapered fi... |
ORPHA:2836 |
| Holoprosencephaly 13, X-Linked |
|
Butterfly vertebrae, Thoracic hemivertebrae, Vertebral clefting |
OMIM:301043 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of toe, Panniculitis, Clubbing of fingers, Hallux valgus, Elbow flexion contr... |
OMIM:256040 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Talipes equinovarus, Slender long bone, Scoliosis, Thin ribs, Hypoplastic ilia, Shor... |
OMIM:264090 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long fingers, Achilles tendon con... |
OMIM:616263 |
| Gabriele-De Vries Syndrome |
|
Sandal gap, Hallux valgus, Long fingers, Distal arthrogryposis, Patellar dislocation, Finger join... |
OMIM:617557 |
| Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Abnormal thumb morphology, Mixed hearing impairment, Finger syndactyly,... |
ORPHA:2363 |
| Toluene Embryopathy |
|
Tapered finger |
ORPHA:1920 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Low-set ears, Hand clenching, Clinodactyly, Overlapping toe, Tapered finger |
OMIM:618975 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Hyperlordosis, P... |
OMIM:615873 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Abnormality of the hand, Abnormal thumb morphology, Genu valgum, Abnormal hand morphology, Low-se... |
ORPHA:101000 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Chops Syndrome |
|
Obesity, Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia |
OMIM:616368 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint hypermobility, Oligohydramnios, Dehydration |
ORPHA:96191 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Wide anterior fontanel, Abnormal pinna morphology, Low-set ears, Hearing i... |
ORPHA:3338 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Down Syndrome |
|
Aganglionic megacolon, Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Micro... |
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 |
|
Sacral dimple, Scoliosis, Hyperlordosis, Prominent fingertip pads, Reduced subcutaneous adipose t... |
OMIM:619950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Optic atrophy, Cupped ear, Scoliosis, Tapered finger, Short foot, Camptodactyly, Low-set ears, He... |
OMIM:309590 |
| Rhombencephalosynapsis |
|
Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finger syndactyly |
ORPHA:59315 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short distal phalanx of finger, Posteriorly rotated ears, Clinodactyly, Low-set ears |
OMIM:615866 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Scoliosis, Limb joint contracture, Flexion contracture, Truncal obesity, Tapered finger |
OMIM:301072 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad thumb, Short palm, Umbilical hernia, Tapered finger, Talipes equinovarus |
OMIM:614501 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Genu valgum, Hallux valgus, Scoliosis, Calcaneovalgus deformity, Camptodactyly, Arachnodactyly, L... |
ORPHA:261552 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Protruding ear, Single transverse pal... |
OMIM:218330 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Sensorineural hearing impairment, Scoliosis, Postaxial polydactyly, Clinodactyly |
OMIM:618460 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Kyphoscoliosis, Congenital generalized lipodystrophy, Long toe, Irregular sclerotic ... |
ORPHA:3455 |
| Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... |
OMIM:618278 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Scoliosis, Hemivertebrae, Absent tibia, Hand monodactyly, Bilateral talip... |
OMIM:214800 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Decreased skull ossi... |
ORPHA:3472 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Tapered finger, Talipes equinovarus |
OMIM:613603 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Diaphyseal dysplasia, Beaking of vertebral bodies T12-L3, Abnormality of the vertebra... |
ORPHA:97685 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short palm, Long fingers, Short neck, Tapered... |
OMIM:616734 |
| Joubert Syndrome 1 |
|
Low-set ears, Postaxial hand polydactyly, Optic disc pallor, Optic disc coloboma, Clinodactyly, P... |
OMIM:213300 |
| Kasabach-Merritt Phenomenon |
|
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... |
ORPHA:2330 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
| Pmm2-Cdg |
|
Kyphoscoliosis, Reduced thyroxin-binding globulin, Pericarditis, Multiple renal cysts, Joint hype... |
ORPHA:79318 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Scoliosis, Camptodactyly of toe, Camptodactyly of finger, Toe syndactyly, Tapered ... |
ORPHA:261337 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Wide anterior fontanel, Scoliosis, Absent distal phalanges, Pulmonary arterial hyp... |
OMIM:612289 |
| 6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypsarrhythmia, Scoliosis, Short neck, Hallux valgus, Clinodac... |
ORPHA:75857 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Faundes-Banka Syndrome |
|
Joint hypermobility, Flexion contracture of toe, Lumbar hemivertebrae |
OMIM:619376 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Absence of subcutaneous fat, Hip dysplasia, Tapered finger, Small hand |
OMIM:620005 |
| Chromosome 17Q12 Deletion Syndrome |
|
Upper limb undergrowth, Scoliosis, Short palm, Long fingers, Long toe, Short foot |
OMIM:614527 |
| Williams Syndrome |
|
Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Joint stiffness, Umbilical hernia... |
ORPHA:904 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... |
OMIM:280000 |
| Isolated Posterior Meningocele |
|
Thoracic hemivertebrae |
ORPHA:268810 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sensorineural hearing impairment, Limb undergrowth, Clinodactyly |
OMIM:616541 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Single transverse palmar crease, Microtia, Bilateral conductive hearing... |
OMIM:620186 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proportionate shortening of all digits, Flexion contracture of toe, Short foot, Brachydactyly, Sh... |
ORPHA:280633 |
| Generalized Arterial Calcification Of Infancy |
|
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... |
ORPHA:51608 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Radial deviation of finger, Short 2nd toe, Low-set ears, Hearing impairment, Syndact... |
OMIM:311200 |
| Floating-Harbor Syndrome |
|
Kyphoscoliosis, Dislocated radial head, Short clavicles, Low-set ears, Short metacarpal, Broad fi... |
ORPHA:2044 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly, Low-set, posteriorly rotated ears |
ORPHA:228426 |
| Cockayne Syndrome |
|
Scoliosis, Kyphosis, Congenital contracture, Reduced subcutaneous adipose tissue, Enamel hypoplas... |
ORPHA:191 |
| Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger |
OMIM:302350 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... |
ORPHA:581 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Scoliosis, Flexion contracture, Kyphosis |
ORPHA:90324 |
| Branchiooculofacial Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar crease, Elb... |
OMIM:113620 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, 2-3 toe syndactyly, Prominent metopic ridge, Coronal craniosynostosi... |
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 |
|
Hip subluxation, Abnormal vertebral morphology, Fibular hypoplasia, Cervical C2/C3 vertebral fusi... |
ORPHA:444077 |
| Sotos Syndrome |
|
Increased arm span, Ankle flexion contracture, Abnormal vertebral morphology, Inguinal hernia, Bi... |
ORPHA:821 |
| Maternal Phenylketonuria |
|
Hypoplastic helices, Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly |
ORPHA:2209 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Esophageal Atresia |
|
Hearing impairment, Scoliosis, Abnormal vertebral morphology, Clinodactyly |
ORPHA:1199 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Increased circulating ferritin concentration, Hepatomegaly, Hypocalcemia... |
OMIM:619991 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Genu valgum, Tapered distal phalanges of finger, Single transverse palmar crease, Scoliosis, Kyph... |
OMIM:619475 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Postaxial hand polydactyly, Low-set ears, Mesomelia, Syndactyly, Brachyd... |
OMIM:613610 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Umbilical hernia, Hip dislocation, Sacral dimple... |
OMIM:601803 |
| Meckel Syndrome, Type 1 |
|
Radial deviation of finger, Postaxial hand polydactyly, Bowing of the long bones, Low-set ears, F... |
OMIM:249000 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Coffin-Siris Syndrome |
|
Hearing impairment, Short 5th finger, Scoliosis, Clinodactyly |
ORPHA:1465 |
| Microphthalmia, Syndromic 1 |
|
Kyphoscoliosis, Radial deviation of finger, Aganglionic megacolon, Recurrent otitis media, Short ... |
OMIM:309800 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Epistaxis, Pseudobulbar paralysis |
ORPHA:268943 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Noonan Syndrome 1 |
|
Kyphoscoliosis, Radial deviation of finger, Cubitus valgus, Sensorineural hearing impairment, Low... |
OMIM:163950 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limited elbow extension, Narrow palm, Hand clenching, Joint hypermobility, Adducted thumb, Tapere... |
OMIM:616973 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... |
ORPHA:365 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Toe clinodactyly, Long fingers, Umbilical hernia, Short neck, Cutaneous syndactyly |
OMIM:620330 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Sensorineural hearing impairment, Broad thumb, Hearing impairmen... |
OMIM:612541 |
| Craniofacial Microsomia 1 |
|
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Partial duplication of thumb phalanx... |
OMIM:164210 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenome... |
OMIM:620376 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short finger, Clinodactyly of the 5th finger, Abnormality of the palmar creases, Single transvers... |
OMIM:619522 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Clinodactyly of the 5th finger, Tapered finger, Brachydactyly |
ORPHA:477993 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Low-set ears, Posteriorly rotated ears, Clinodactyly, Camptodactyly |
OMIM:619343 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... |
OMIM:268300 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Camptodactyly, Brachydactyly, Radioulnar synostosis, Tapered finger |
OMIM:601088 |
| Neuroocular Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Deep palmar crease, Tibial torsion, Hyperextensibi... |
OMIM:619539 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... |
ORPHA:273 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly |
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 |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
| Elsahy-Waters Syndrome |
|
Cutaneous finger syndactyly, Shortening of all phalanges of fingers, Cervical C2/C3 vertebral fus... |
OMIM:211380 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Tapered finger |
OMIM:617330 |
| Mowat-Wilson Syndrome |
|
Genu valgum, Hallux valgus, Scoliosis, Calcaneovalgus deformity, Camptodactyly, Ulnar deviation o... |
ORPHA:2152 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Alström Syndrome |
|
Short finger, Hyperostosis frontalis interna, Kyphosis, Lumbar scoliosis, Short toe, Thoracic sco... |
ORPHA:64 |
