Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... |
ORPHA:79106 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the lower limb, Rickets, Renal phosphate wasting, Hypophosphatemia, ... |
OMIM:193100 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... |
OMIM:241530 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Waddling gait, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... |
ORPHA:289157 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,... |
OMIM:264700 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Upington Disease |
|
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst |
ORPHA:2668 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... |
OMIM:613388 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl... |
OMIM:618395 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c... |
OMIM:612089 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... |
OMIM:179800 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Broad-based gait, C... |
OMIM:616716 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... |
OMIM:267200 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... |
ORPHA:79445 |
Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Small hand, T... |
ORPHA:93324 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypophosphatemic rickets, Sclerotic ve... |
ORPHA:289176 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
Smith-Magenis syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypoglycemia, Nephrocalcinosis, ... |
OMIM:616026 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t... |
ORPHA:1901 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Waddling gait, Thoracolumbar scoliosis, Knee flexion contracture, Hy... |
OMIM:606631 |
Gurrieri Syndrome |
|
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... |
OMIM:601187 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Facial palsy, Hearing impairment, Recurrent fractures, Carious teet... |
ORPHA:53 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to... |
OMIM:602722 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Renal insufficiency, Polyuria, Xerostomia, Hypermagnesemia, Neph... |
OMIM:617671 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... |
ORPHA:2635 |
Axial Osteomalacia |
|
Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co... |
OMIM:109130 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Hyperostosis Corticalis Generalisata |
|
Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical... |
ORPHA:3416 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ... |
ORPHA:1988 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios... |
ORPHA:2611 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
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Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, A... |
OMIM:615883 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia... |
OMIM:156400 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... |
ORPHA:99642 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susc... |
OMIM:146300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Joint ... |
OMIM:132400 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Pyle Disease |
|
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu... |
OMIM:265900 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the vertebral column, Hypercalcemia, Coxa valga |
OMIM:191420 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat... |
OMIM:222765 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... |
ORPHA:958 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re... |
OMIM:612780 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th... |
OMIM:620076 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... |
OMIM:146200 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Rickets, Hypercalc... |
ORPHA:2088 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,... |
OMIM:271650 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
Otoonychoperoneal Syndrome |
|
Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f... |
OMIM:259780 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon... |
OMIM:239000 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... |
ORPHA:2485 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Hypomagnesemia, Small hand, Thin ribs, Short foot, Sl... |
OMIM:244460 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ... |
ORPHA:97289 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h... |
OMIM:210600 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to th... |
OMIM:611590 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... |
ORPHA:3144 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt... |
OMIM:600204 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e... |
OMIM:164745 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification ... |
OMIM:208500 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... |
ORPHA:405 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... |
OMIM:602557 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay... |
OMIM:600969 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr... |
ORPHA:2557 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Rickets, Hypercalciuria, G... |
OMIM:227810 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro... |
ORPHA:280062 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... |
ORPHA:1040 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... |
ORPHA:294975 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... |
OMIM:106300 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Decreased sku... |
ORPHA:2097 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... |
OMIM:263800 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Atelosteogenesis Type Iii |
|
Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity, Hyperphosphatemia, Hypocal... |
OMIM:612462 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Hypokalemia, Aminoaciduria,... |
ORPHA:213 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, H... |
ORPHA:56304 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Short ne... |
ORPHA:2176 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Sensorineural hearing impairment, Short 5th ... |
ORPHA:557003 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Mu... |
OMIM:616897 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... |
OMIM:608154 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte... |
OMIM:208230 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hyperammonemia,... |
OMIM:618641 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor... |
OMIM:618392 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop... |
ORPHA:2746 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Slc35A2-Cdg |
|
Osteopenia, Abnormal long bone morphology, Short tibia, Increased circulating thyroglobulin level... |
ORPHA:356961 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel... |
ORPHA:166002 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Aganglionic megacolon, Cachexia, Micrognathia, Tapered finger, Abnormal antihelix mor... |
ORPHA:1438 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... |
OMIM:618476 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Posteriorly rotated ears, Small for gestational age, Tapered fi... |
OMIM:609425 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... |
ORPHA:314795 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, W... |
OMIM:619638 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Micrognathia... |
ORPHA:2484 |
Dysosteosclerosis |
|
Delayed closure of the anterior fontanelle, Micrognathia, Absent frontal sinuses, Increased inter... |
OMIM:224300 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormality of the fascia, Ante... |
ORPHA:85438 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
ORPHA:100973 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... |
ORPHA:628 |
Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral... |
OMIM:619345 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca... |
OMIM:304150 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... |
OMIM:135100 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone ... |
OMIM:614732 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ... |
ORPHA:18 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, I... |
ORPHA:85408 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit... |
ORPHA:29207 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Poorly ossified vertebrae, Shortening of all ... |
OMIM:619135 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... |
OMIM:610967 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve... |
ORPHA:1149 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... |
OMIM:616583 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... |
OMIM:607143 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ... |
OMIM:101800 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter |
ORPHA:705 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... |
OMIM:616300 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness, Skin... |
ORPHA:85436 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib morphol... |
ORPHA:1486 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:99880 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... |
OMIM:309350 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Distal Arthrogryposis Type 1 |
|
Talipes, Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger,... |
ORPHA:1146 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Micr... |
OMIM:241410 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue urine, Recurrent hypogl... |
ORPHA:94086 |
Gracile Bone Dysplasia |
|
Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull ossificati... |
OMIM:602361 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,... |
ORPHA:577 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia... |
ORPHA:562 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Craniosynostosis, Missing ribs, Micrognathia, Absent thumb, Humeroradial synostosis, ... |
OMIM:251230 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... |
ORPHA:93307 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Diaphyseal th... |
ORPHA:1453 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X... |
ORPHA:220393 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous os... |
OMIM:103580 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:143 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
ORPHA:357175 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... |
ORPHA:73 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... |
ORPHA:85198 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Pes planus, Posteriorly rotated ears, Tapered finger, Narrow jaw, Low-set ears, Macrocephaly, Cli... |
OMIM:618147 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... |
OMIM:241600 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Hypophosphatasia |
|
Bowing of the long bones, Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp... |
OMIM:617925 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... |
ORPHA:319195 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus... |
OMIM:259440 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... |
OMIM:601559 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgu... |
ORPHA:3101 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... |
OMIM:610600 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
OMIM:615162 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hyperhidrosis, Acute tubulointerstitia... |
ORPHA:340 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,... |
ORPHA:159 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morphology, Patchy osteo... |
ORPHA:2323 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Renal cyst, Hyperbilirubinemia, ... |
ORPHA:79303 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Conductive hearing impairment, Cl... |
OMIM:300373 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Aggressive beh... |
ORPHA:85279 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ... |
ORPHA:188 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe... |
ORPHA:93311 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal sacrum morphology, Bone cyst, Limitation of joint mobility, Osteolysis, A... |
ORPHA:2591 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, V... |
OMIM:241500 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... |
OMIM:617994 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Kinsship Syndrome |
|
Mandibular prognathia, Pes planus, Osteopenia, Short stature, Coxa valga, Micrognathia, Microceph... |
OMIM:619297 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... |
ORPHA:94089 |
Caudal Regression Syndrome |
|
Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte... |
ORPHA:3027 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... |
ORPHA:93315 |
Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis... |
ORPHA:2801 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... |
OMIM:258860 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly o... |
ORPHA:2710 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Large fontanelles, Mandibula... |
ORPHA:1832 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Scoliosis, Reduced bone mineral density |
OMIM:620200 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Narrow chest, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal c... |
OMIM:218330 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin... |
OMIM:617952 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures |
OMIM:618107 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flexion contracture of finger, Small for gestational age, Microcephaly, Postnatal growth retardat... |
ORPHA:319332 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... |
ORPHA:582 |
Hypophosphatasia, Childhood |
|
Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Rachitic rosary |
OMIM:241510 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m... |
ORPHA:1782 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Amelogenesis imperfecta, Microretrognathia... |
OMIM:618363 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Genu recurvatum, Short stature, Tapered fing... |
OMIM:619539 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria |
OMIM:268315 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto... |
ORPHA:2804 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Elbow flexion contracture, Thoracic kyphosis, Hypocalce... |
OMIM:618440 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy... |
ORPHA:36913 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra... |
OMIM:167320 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Microcephaly, Small hand, Short foot, Self-injurious behavior, Secondary microcephaly, Arthrogryp... |
OMIM:615282 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... |
OMIM:618188 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Hip dislocation, Knee dislocation, Hip dysplasia, Hammertoe, Scoliosis |
ORPHA:370943 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ataxia, Pectus excavatum, Osteoporosis, Ankle clonus, Lambdoi... |
OMIM:615398 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hy... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck,... |
ORPHA:79444 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Hyperplasia of the maxilla |
OMIM:618383 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto... |
ORPHA:90652 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... |
OMIM:607323 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to th... |
OMIM:614104 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Diarrhea, Xerostomia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Vomitin... |
OMIM:175500 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Ck Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig... |
OMIM:300831 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Microcephaly, ... |
OMIM:615541 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent f... |
OMIM:616229 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Sensor... |
ORPHA:47 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Keipert Syndrome |
|
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... |
ORPHA:2662 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Limb ... |
OMIM:230600 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S... |
OMIM:263750 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Trigonocephaly 2 |
|
Depressed nasal bridge, Wide nasal bridge, Metopic synostosis, Microcephaly |
OMIM:614485 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... |
OMIM:215140 |
Rhyns Syndrome |
|
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal... |
ORPHA:140976 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, Flat capital femoral ep... |
OMIM:252605 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ... |
OMIM:619131 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary... |
ORPHA:653 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Calvarial Hyperostosis |
|
Calvarial hyperostosis |
OMIM:302030 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... |
OMIM:113300 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Hypotonia-Cystinuria Syndrome |
|
Posteriorly rotated ears, Facial palsy, Postnatal growth retardation, Macrotia, Hypocalcemia, Fai... |
OMIM:606407 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Eczema, Short stature, Micrognathia, M... |
ORPHA:352490 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat... |
OMIM:617913 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte... |
ORPHA:79255 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul... |
ORPHA:913 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... |
OMIM:614886 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micrognathia, Microme... |
ORPHA:93329 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ri... |
ORPHA:93298 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Waddling gait, Short metaca... |
OMIM:607326 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive, Hypocalcemia, Growth delay |
ORPHA:163693 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay... |
OMIM:620099 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ... |
ORPHA:439822 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... |
OMIM:611555 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Diabetes mellitus, Anuria, Pancr... |
ORPHA:544482 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Radial bowing, Recurrent fractur... |
OMIM:610915 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... |
ORPHA:1332 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Steatorrhea |
ORPHA:309031 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Flexion contracture of finger, Palmoplantar keratoderma |
ORPHA:1010 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Lateral clavic... |
OMIM:269250 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... |
OMIM:615222 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment |
OMIM:619658 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... |
OMIM:616809 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachycardia, Heart block, Elevated circulating... |
ORPHA:542323 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia,... |
OMIM:277900 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia, Sho... |
OMIM:182290 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru... |
ORPHA:2958 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg... |
ORPHA:93299 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria |
OMIM:239510 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Christianson Syndrome |
|
Mandibular prognathia, Cachexia, Microcephaly, Truncal ataxia, Gait ataxia, Joint hyperflexibilit... |
ORPHA:85278 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced... |
ORPHA:667 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly,... |
ORPHA:79113 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:203400 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Waddling gait, Camptodactyly of finger, K... |
OMIM:612350 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino... |
OMIM:201000 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:52 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Failure to thrive, Broad hallux, Arachnodactyly, Ataxia, Aggressive behavior, Hypoplasia of the m... |
ORPHA:481152 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia,... |
ORPHA:915 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Overfolded heli... |
OMIM:619092 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Osteopor... |
ORPHA:231222 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive |
OMIM:212750 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, G... |
ORPHA:534 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... |
ORPHA:1452 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of the cochlea... |
ORPHA:251061 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abnormality of the lower limb, ... |
ORPHA:313855 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv... |
ORPHA:79345 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Eczema, Hyperactivity, Aggressive behav... |
OMIM:600430 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Hypera... |
ORPHA:73272 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Microtia, Macrocephaly, Thickened... |
ORPHA:261295 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Impulsivity, Aggressive behavior, Metatarsus adductus, Hypoplasia of the maxilla, ... |
ORPHA:293939 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Microcephaly, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Failure to thrive, Recurrent skin infections, Decreased serum iron, Overwe... |
ORPHA:391372 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Periostitis, Crusting eryt... |
ORPHA:324625 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Abnormal verteb... |
ORPHA:166024 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Clinodactyly of the... |
ORPHA:96148 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin... |
OMIM:255800 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... |
OMIM:117650 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ... |
OMIM:616145 |
Fragile X Syndrome |
|
Mandibular prognathia, Pes planus, Hyperactivity, Abnormal head movements, Joint laxity, Self-bit... |
OMIM:300624 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat... |
ORPHA:397715 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Short stature, Microcephaly, Metatarsus adductus, Hyp... |
ORPHA:289522 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B... |
ORPHA:96097 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph... |
ORPHA:428 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, My... |
ORPHA:319213 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Micrognathia, Postnatal growth retardation, Microcephaly, Aplasia/Hypoplasia of ... |
ORPHA:2306 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ... |
OMIM:259720 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Broad-based gait, Short stature, Ataxia, Microcephaly, Inability to walk, Dysphagia, ... |
OMIM:617695 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormal mandible morphology |
ORPHA:401942 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
N-Acetylaspartate Deficiency |
|
Inguinal hernia, Broad-based gait, Short stature, Microcephaly, Unsteady gait, Truncal ataxia, Se... |
OMIM:614063 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Pectus excava... |
OMIM:259775 |
Auriculoosteodysplasia |
|
Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,... |
ORPHA:114 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensor... |
OMIM:109120 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Secretory diarrhea, Red... |
OMIM:619377 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur... |
ORPHA:52368 |
Cri-Du-Chat Syndrome |
|
Short metatarsal, Abnormal repetitive mannerisms, Self-mutilation, Oppositional defiant disorder,... |
OMIM:123450 |
Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism |
OMIM:307700 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Hypopl... |
ORPHA:397973 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Protruding ear,... |
ORPHA:776 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... |
ORPHA:3404 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Hypocalcemia, Nephropathy, Hypothyroidism |
ORPHA:1563 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,... |
OMIM:619479 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Inability ... |
OMIM:166300 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,... |
ORPHA:3082 |
Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:136760 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Relative macrocephaly, Micrognathia, Postnatal growth retardat... |
ORPHA:254525 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Microcephaly, Unsteady gait, Genu valgum, Growth delay, EEG abnormality, Microtia, M... |
OMIM:617798 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial oss... |
OMIM:614592 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Panner Disease |
|
Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi... |
ORPHA:97336 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Relative macrocephaly, Congenital hip dislo... |
OMIM:614450 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... |
OMIM:218000 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Short stat... |
ORPHA:1307 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Ti... |
ORPHA:96334 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Osteoarthritis, Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis |
ORPHA:2512 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... |
OMIM:241200 |
Usher Syndrome Type 1 |
|
Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor... |
ORPHA:231169 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Short stature, Hearing impairment, Hypoplasia of the maxilla, Optic at... |
OMIM:614261 |
Craniofacioskeletal Syndrome |
|
Pes planus, Posteriorly rotated ears, Short stature, Micrognathia, Microcephaly, Hypoplastic fron... |
OMIM:300712 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Short neck, Obesity, Mitral valve prolapse, Abnormal metacarpal morp... |
ORPHA:2233 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Joint hyperflexibili... |
ORPHA:90653 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Tachycardia, Elevated circulating C-reactive p... |
ORPHA:90051 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S... |
OMIM:614753 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Grant Syndrome |
|
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Unilateral deafness |
OMIM:612097 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar a... |
OMIM:613804 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Decrea... |
ORPHA:93950 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ... |
ORPHA:199299 |
Lassa Fever |
|
Shock, Increased circulating IgM level, Oliguria |
ORPHA:99824 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Shor... |
ORPHA:370930 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Familial Calcium Pyrophosphate Deposition |
|
Osteoarthritis, Limitation of joint mobility, Arthritis, Calcification of cartilage, Chondrocalci... |
ORPHA:1416 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Craniosynost... |
OMIM:252600 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... |
ORPHA:427 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Abnormal repetitive mannerisms, S... |
OMIM:212066 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Central hypothyroidism |
ORPHA:514 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular fe... |
OMIM:613805 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Abnormality of bon... |
ORPHA:3156 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, High-frequency sensorineural hearing impairment, Osteopenia, Relative macr... |
ORPHA:2324 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen... |
OMIM:308050 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Overlapping toe, Tapered finger, Microcephaly, Abnormal repetitive mannerisms, ... |
OMIM:617807 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Short stature, Hearing impairment, M... |
ORPHA:444077 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Short stature, Dysphagia |
OMIM:617862 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Micrognathia, Postnatal growth retardation, Oral-pharyngeal dysphagia, Microcephaly, Prominent pr... |
ORPHA:480907 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener... |
ORPHA:416 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio... |
ORPHA:73224 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... |
ORPHA:166272 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Elbow flexion contracture,... |
OMIM:252940 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Ataxia, Tapered finger, Micrognathia, Microcephaly, Sensorineural hear... |
ORPHA:2479 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hyponatremia, Failure to thrive, Optic nerve hypoplasia, Micrognathia, Hyp... |
OMIM:620157 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Inc... |
ORPHA:52430 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... |
ORPHA:417 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Cortical thic... |
ORPHA:93325 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Hearing impairm... |
ORPHA:794 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Ulnar devia... |
ORPHA:1529 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... |
ORPHA:1597 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Hip dislocation, Sacrococcygeal pilonidal abnormality, Slender long... |
ORPHA:2840 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... |
OMIM:269300 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Persistence of primary teeth, Micrognathia, Aggressive behavior, Se... |
OMIM:618342 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Protruding ear, Hypocalcemia, Abnormal repetitive mannerisms, Joint laxity... |
OMIM:620330 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Microcephaly |
OMIM:618302 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Small for gestational age, Short stature, Micrognathia, Ora... |
OMIM:610883 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, Joint dislocation, Short clavicles, Short 4th metacarpal |
OMIM:606220 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hy... |
ORPHA:763 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Chronic constipation, M... |
OMIM:300676 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limited elbow extension |
ORPHA:156728 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Camptodactyly of finger, Joint stiffness, Megacystis, Vesicoure... |
ORPHA:2604 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Pes planus, S... |
OMIM:305400 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Dysphagia, Growth delay, Choreoathetosis, Bilateral sensorineural hearing ... |
OMIM:619422 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Short stature, Micrognathia, Tics, Low-set ears, Attention deficit hype... |
OMIM:617808 |
Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal... |
OMIM:176920 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impa... |
ORPHA:93262 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short neck, Kyphosis,... |
ORPHA:3409 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Growth delay, Self-injurious behavior, Low-se... |
ORPHA:238750 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn... |
OMIM:215150 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Short ... |
OMIM:264180 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ... |
OMIM:616507 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Microcephal... |
OMIM:608747 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,... |
OMIM:601005 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Broad-based gait, Overlapping toe, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor... |
ORPHA:2583 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... |
ORPHA:2751 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Macrocephaly-Developmental Delay Syndrome |
|
Microretrognathia, Mandibular prognathia, Craniosynostosis, Recurrent pneumonia, Abnormal speech ... |
ORPHA:397612 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Moebius Syndrome |
|
Syndactyly, Pes planus, Brachydactyly, Micrognathia, Short neck, Clinodactyly, Split hand, Abnorm... |
OMIM:157900 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, 2-3 toe syndactyly, Short foot, Secondary microcephaly, Bruxism, Abnormal repet... |
OMIM:616351 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Metaphyseal chondrodysplasia, Enlargement of the wrists, Reduced bone mineral density, Tip-toe ga... |
ORPHA:83629 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Hypsarrhythmia, Secondary microcephaly, Abnormal repetitive man... |
OMIM:617830 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th finge... |
ORPHA:819 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Pes planus, Ataxia, Abnormal dental enamel... |
ORPHA:10 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Recurrent otitis med... |
ORPHA:254531 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Advanced eruption of teeth, Short metacarpal, Pseudoep... |
ORPHA:192 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Aggressive behavior, Microcephaly, Sensorineu... |
ORPHA:17 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Relative macrocephaly, Small for gestational age, Short stature, Lower limb asymmetry, Postnatal ... |
ORPHA:231140 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Microcephaly, Overweight, Cranial hyperostosis, Hip dysplasia, Gait disturbance, M... |
ORPHA:457240 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2n... |
OMIM:609128 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Coxa vara, In... |
OMIM:610968 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Microcephaly, 2-3 toe synd... |
ORPHA:3306 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint... |
OMIM:212112 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hi... |
OMIM:618853 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p... |
OMIM:212720 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, M... |
ORPHA:476126 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Mild microcephaly, Slender long bone, Low... |
ORPHA:319671 |
Chromosome 16Q22 Deletion Syndrome |
|
Posteriorly rotated ears, Broad hallux, Small for gestational age, Micrognathia, Postnatal growth... |
OMIM:614541 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Microtia, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Compulsive behaviors, Short palm, Conductive hearing impairment,... |
ORPHA:1001 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Abnormal thorax morphology, Rhizomelic arm shortening, Broad cla... |
ORPHA:508542 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Tapered finger, Short neck, Small hand, Short clavicles, Hypercholesterolemia |
ORPHA:401923 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Broad hallux, Broad thumb |
OMIM:272200 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Macrocephaly, Self-injurious behavior... |
OMIM:613670 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Lymphatic Malformation 13 |
|
Unilateral deafness |
OMIM:620244 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Micrognathia, Postaxial... |
OMIM:617866 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal join... |
ORPHA:3130 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Pes planus, Genu recurvatum, Short stature, Microcephaly, Overweight, Generalized ... |
ORPHA:280763 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Scoliosis, Short long bone, Camptodactyly |
OMIM:619751 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Ventricular septal defect, Elevated circulating creatine kinase concentration, S... |
ORPHA:26793 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Eczema, Microcephaly, Congenital sensorineural hearing impairment, Sensorineural he... |
ORPHA:500159 |
Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Chronic kidney disease, Osteoporosis, Short long ... |
OMIM:602152 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Posteriorly rotated ears, Rocker b... |
ORPHA:163979 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met... |
OMIM:613320 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy... |
OMIM:601390 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Bone marrow hypocellularity,... |
OMIM:231095 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior... |
OMIM:619698 |
Laron Syndrome |
|
Limb undergrowth, Abnormal joint morphology, Short long bone |
OMIM:262500 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, Malar flat... |
OMIM:235255 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Genu varum, Microretrogn... |
OMIM:613803 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Osteoporosis, Hip dislocat... |
ORPHA:2078 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal m... |
ORPHA:296 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Microcephaly, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set... |
OMIM:618718 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Renal tubular acidosis, Car... |
OMIM:530000 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... |
ORPHA:536471 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointers... |
OMIM:616629 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... |
ORPHA:469 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Aplastic clav... |
OMIM:265800 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... |
ORPHA:2848 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Thoracic hypoplasia |
OMIM:613124 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Micrognathia, Postnatal growth retardation, Postaxial hand polydactyly, Hypocalc... |
ORPHA:1655 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... |
ORPHA:193 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of... |
ORPHA:2136 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Ataxia, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat ... |
OMIM:610442 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U... |
OMIM:613658 |
Nasu-Hakola Disease |
|
Bone cyst, Abnormal epiphysis morphology, Limitation of joint mobility, Reduced bone mineral density |
ORPHA:2770 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... |
ORPHA:3068 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Short stature, Fifth finger distal phalanx clinodact... |
OMIM:257850 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... |
ORPHA:90791 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... |
ORPHA:178303 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em... |
OMIM:613390 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Condu... |
OMIM:182212 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Micrognathia, Microcephaly, Flexion contracture, Small hand, Obesity, Chore... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Ataxia, Microcephaly, Repetitive compulsive behavior, 2-3 toe cutaneous syndactyly, Inability to ... |
OMIM:300260 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Tricuspid regurgitation, Hypophosphaturia, Hypoplastic sweat glands, Mi... |
ORPHA:73223 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Femoral bowing, A... |
OMIM:616462 |
Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth... |
ORPHA:97278 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity disorder, Ma... |
OMIM:620021 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Mixed hearing impairment, Short femur, Short stature, Tali... |
OMIM:300990 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Condu... |
ORPHA:207 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hern... |
OMIM:263210 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi... |
ORPHA:2972 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Short neck, Abnormal rib morphology,... |
ORPHA:1703 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Broad finger, Primary microcep... |
OMIM:617523 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Short stature, Optic nerve hypoplasia... |
OMIM:617302 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... |
OMIM:146255 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... |
ORPHA:168558 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Somatostatinoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated... |
ORPHA:97283 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Decreased body weight, Abnormal repetitive mannerisms, Amelogenesis i... |
OMIM:619229 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... |
ORPHA:1842 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
Mohr Syndrome |
|
Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... |
OMIM:252100 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Short stature, Ataxia, Microcephaly, Polyphagia, Growth delay, Self-in... |
ORPHA:228402 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, Rh... |
ORPHA:163654 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Hyperl... |
OMIM:248370 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sandal gap, Ataxia, Tapered finger, Aggressive behavior,... |
OMIM:618430 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Short stature, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... |
OMIM:619260 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Impulsivity, Micrognathia, Aggressive behavio... |
OMIM:618914 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger... |
ORPHA:435638 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Decreased cir... |
OMIM:619381 |
Grfoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth... |
ORPHA:97261 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Short stature, Micrognathia, Microcephaly, Patellar aplasia, Birth len... |
OMIM:613800 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Clinodactyly of the 5th finger, Microtia, third ... |
ORPHA:2554 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Wide nasal bridge, Premature posterior fontanelle closure, Multiple su... |
ORPHA:3369 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Recurr... |
OMIM:610682 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Arthrit... |
ORPHA:247353 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Small for gestational age, Short stature, Micrognathia, Tapered fin... |
OMIM:216550 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Small for gestational age, Elbow contracture, Short stature, P... |
OMIM:616489 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Pancreatic fibrosis, Decreased respon... |
ORPHA:699 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypocalcemia, Conductive hearing impairment, Chronic otitis media, Small earlobe, A... |
ORPHA:567 |
Trisomy 10P |
|
Micrognathia, Abnormality of the ear, EEG with focal spikes, Abnormal hip joint morphology, Abnor... |
ORPHA:171929 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Failure to t... |
ORPHA:51608 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... |
OMIM:300614 |
Xq28 (MECP2) duplication |
|
Microcephaly, Inability to walk, Macrotia, Gait ataxia, Dysphagia, Malar flattening, Failure to t... |
DECIPHER:45 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Short stature, Ataxia, Tracheomalacia, Micrognathia, Hypoplasia of the ma... |
ORPHA:314679 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Anteverted ears, Microcephaly, Macrotia,... |
ORPHA:544254 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Abnormal rep... |
OMIM:613443 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Small earlobe, Genu varum, Long toe, Short stature, Absence of... |
OMIM:264090 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Short stature, Micr... |
OMIM:615656 |
Proteus-Like Syndrome |
|
Hyperostosis, Genu recurvatum, Lower limb asymmetry |
ORPHA:2969 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex... |
ORPHA:746 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Conductive hearing impairmen... |
ORPHA:2462 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Congenital Myopathy 15 |
|
Osteopenia, Waddling gait, Joint hypermobility, Camptodactyly |
OMIM:620161 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci... |
ORPHA:35706 |
Coffin-Siris Syndrome 7 |
|
Brachydactyly, Hyperactivity, Posteriorly rotated ears, Short stature, Severe temper tantrums, Sa... |
OMIM:618027 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness, Shuffling gait, Short distal phalanx of finger |
OMIM:300266 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... |
ORPHA:90038 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Short stature, Eczema, Microcephaly, Postnatal growth reta... |
ORPHA:353298 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid... |
OMIM:224400 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Monosomy 13Q34 |
|
Pes planus, Posteriorly rotated ears, Hypercalcemia, Micrognathia, Microcephaly, Postaxial hand p... |
ORPHA:96168 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Ataxia, Micrognathia, Microcephaly, Optic atrop... |
ORPHA:530983 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Tics, Abnormal repetitive m... |
OMIM:616364 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Decreased ... |
OMIM:271510 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Recurrent pneumonia, Self-injurious behavior, Clinodactyly of the 5th fing... |
OMIM:615637 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Gait ataxia, Progressive cer... |
ORPHA:95433 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, Clinodactyly of the 5th finger... |
ORPHA:508488 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under... |
OMIM:620370 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Optic atrophy, Elbow flexion ... |
OMIM:619470 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight |
ORPHA:93945 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Sacral dimple, Recurrent fra... |
ORPHA:3206 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Microcephaly, Inability to walk, Dysphagia,... |
OMIM:617802 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Short neck, Coxa valga, Elbo... |
ORPHA:1425 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Micrognathi... |
OMIM:309520 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Interictal epileptiform activity, Progr... |
OMIM:618737 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... |
ORPHA:3015 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency |
OMIM:247410 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Radio-Tartaglia Syndrome |
|
Pes planus, Ataxia, Hearing impairment, Micrognathia, Tapered finger, Abnormal repetitive manneri... |
OMIM:619312 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur... |
OMIM:620232 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplasia, Scoliosis, Hypoplastic ... |
ORPHA:61 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Short stature, Proximal placement of thumb, Hearing impa... |
ORPHA:94065 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... |
OMIM:611209 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a... |
ORPHA:2785 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Charge Syndrome |
|
Micrognathia, Hand monodactyly, Hypocalcemia, Self-mutilation, Hypoplasia of the ulna, Facial pal... |
OMIM:214800 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Abnormal form of the vertebral bodies, Joint hyperf... |
ORPHA:1458 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix |
OMIM:245650 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria |
OMIM:606528 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Short stature, Micrognathia, Prominent crus of helix, Postnatal ... |
OMIM:619695 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Microc... |
ORPHA:85201 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Hearing impairment, Persistence of... |
OMIM:610253 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Microcephaly, Abnormal zygomatic bone morphology, Lar... |
ORPHA:2511 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th... |
ORPHA:488434 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Hyperactivity, Ataxia, Aggressive behavior, Postnatal growth retardation, ... |
OMIM:300912 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Long foot, Aggressive behavior, Fixated interests, Tics, Talipes equinovarus, Attention... |
OMIM:617788 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T... |
ORPHA:1120 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Adrenal insuf... |
ORPHA:85445 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morpholog... |
ORPHA:2095 |
Mend Syndrome |
|
Hyperactivity, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va... |
ORPHA:800 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... |
OMIM:260400 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... |
OMIM:240300 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Microcephaly, 2-3 toe syndactyly, Macrotia, Ab... |
ORPHA:391307 |
Pendred Syndrome |
|
Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural... |
OMIM:274600 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Joint hyperflexibility, Slender long bone, Cubitus... |
ORPHA:1185 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Proximal lower limb amyotrophy, Restless legs, Optic nerve h... |
ORPHA:101085 |
Fanconi Anemia |
|
Pes planus, Finger syndactyly, Toe syndactyly, Hypoplasia of the ulna, Abnormal morphology of uln... |
ORPHA:84 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Small hand,... |
ORPHA:96184 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Decreased circulatin... |
OMIM:612301 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... |
OMIM:612921 |
Warsaw Breakage Syndrome |
|
Microcephaly, Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic disc col... |
OMIM:613398 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina... |
ORPHA:94093 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Orthostatic hypotension,... |
ORPHA:95409 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Craniosynostosis, Long fingers, Macrocephaly... |
OMIM:613174 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Sensorineural hearing impairment... |
ORPHA:261197 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Talipes equinova... |
OMIM:614815 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Small hand, Dysphagia, Short foot, Ankle clonus, Agitation, Bruxism, Abnormal repe... |
OMIM:617435 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... |
ORPHA:36234 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic... |
OMIM:619503 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Microcephaly, Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearin... |
OMIM:619877 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Hyperlipidemia, Flexion contracture, Progressive clavicular acroosteolysis, Osteoly... |
OMIM:608612 |
Al Kaissi Syndrome |
|
Pes planus, Broad-based gait, Posteriorly rotated ears, Abnormal pinna morphology, Short stature,... |
OMIM:617694 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Short stature, Eczema, Microcephaly, Postnatal growth retardat... |
OMIM:616651 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:94080 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Osteopenia, Short metatarsal, Waddling gait, Short metacarpal, Rhizomelia,... |
OMIM:614813 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Loss of facial adipose tissue, ... |
ORPHA:3455 |
Glucagonoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated... |
ORPHA:97280 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Elevat... |
OMIM:302960 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short... |
OMIM:139210 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Lower limb asy... |
ORPHA:744 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Spastic ataxia, Optic nerve hypoplasia, Micrognathia, Metatarsus adductus, Postnata... |
ORPHA:300570 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Craniosynostosis 4 |
|
Depressed nasal bridge, Sagittal craniosynostosis, Macrocephaly, Pansynostosis, Lambdoidal cranio... |
OMIM:600775 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Brachydactyly |
ORPHA:79414 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Elevated circulating creatine kinase concentration,... |
OMIM:600092 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Pes planus, Overfriendliness, Posteriorly rotated ears, Tapered finger, Flexion con... |
OMIM:619293 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility... |
ORPHA:2058 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers, Growth delay,... |
OMIM:615716 |
Mirage Syndrome |
|
Hyponatremia, Rocker bottom foot, Radial club hand, Hyperkalemia, Talipes equinovarus, Scoliosis,... |
OMIM:617053 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ... |
OMIM:605822 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Failure to thrive, Foot joint contrac... |
ORPHA:90321 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Hyperactivity, Eczema, Microcephaly, Sensorineural hearing impairment, Recurrent pn... |
OMIM:617751 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,... |
ORPHA:583 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... |
ORPHA:228396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Long palm, Recurrent fractures, Single... |
OMIM:309583 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Micrognathia, Aggressive behavior, Microcephaly, Tongue thrusting, Dental maloc... |
OMIM:606232 |
Intellectual Disability, Buenos-Aires Type |
|
Spastic gait, Pectus carinatum, Reduced bone mineral density, Abnormal pelvic girdle bone morphol... |
ORPHA:3079 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Short stature, Talipes, Aggressive behavior, Microcephaly, Abnormality of the ea... |
OMIM:192430 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external... |
ORPHA:2399 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Delayed cranial suture closure, Aplastic clavi... |
ORPHA:2658 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Hypokalemia, Abdominal obesity, Biconcave vertebral bodies, Vert... |
OMIM:219090 |
Summitt Syndrome |
|
Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ri... |
ORPHA:3210 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Joint laxity,... |
OMIM:605130 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Microcephaly, Growth delay, Hypoalbuminemia, Decreased body weight, Clinodactyly o... |
OMIM:618347 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ear, Clinodact... |
OMIM:609625 |
Cockayne Syndrome A |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Small for gestational age, Broad na... |
ORPHA:488437 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Secondary microcephaly, Difficulty walking, Joint contracture, Failure to thrive, Abnormal repeti... |
OMIM:617393 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Pectus excavatum, Micrognathia, Coxa valga, Abnormal form of th... |
ORPHA:949 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... |
ORPHA:2774 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Broad-based gait, Abnormal foot morphology, Unsteady gait, Macroce... |
OMIM:618205 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Pes planus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit... |
OMIM:618000 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost... |
OMIM:241310 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Micrognathia, Aggressive behavior, Macrotia, Microcephaly, 2-3 toe sy... |
OMIM:617061 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E... |
ORPHA:584 |
Foxg1 Syndrome |
|
Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ... |
ORPHA:561854 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Inguinal hernia, Small for gestational age, Micrognathia, Post... |
ORPHA:397590 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th ... |
OMIM:167730 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na... |
ORPHA:2863 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Unsteady gait, Pica, EEG abnormality, Low-set ears, Clinodactyly of the 5th finger... |
OMIM:618480 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Short stature, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive behavior, Optic atro... |
ORPHA:401777 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Short stature, Ataxia, Impulsivity, Tapered finger, Aggressive behav... |
OMIM:619435 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Broad-based gait, Aganglionic megacolon, Short stature, Aggressive behavio... |
OMIM:300352 |
Baker-Gordon Syndrome |
|
Joint laxity, Ataxia, Abnormal foot morphology, Inability to walk, Choreoathetosis, Self-injuriou... |
OMIM:618218 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger... |
ORPHA:251028 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, T... |
ORPHA:2463 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Pes planus, Arachnodactyly, Short stature, Ataxia, Micrognathia, Aggressive behavio... |
OMIM:300986 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
OMIM:617044 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ... |
OMIM:616367 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Obesity, Radioulnar syn... |
ORPHA:171839 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, ... |
OMIM:608149 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat... |
ORPHA:231226 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Thickened helices, ... |
OMIM:610954 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Short stature, Micrognathia, Microcephaly, Cupped ear, Limb ataxia, Self-injuri... |
OMIM:617101 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Ogden Syndrome |
|
Microretrognathia, Abnormal head movements, Inguinal hernia, Broad hallux, Postnatal growth retar... |
ORPHA:276432 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Pectus ... |
OMIM:311900 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor... |
OMIM:241150 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Short stature, Severe postnatal growt... |
ORPHA:769 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Cachexia, Joint stiffness, Micrognathia, Abnormality of the lower limb, Flexion contr... |
ORPHA:1979 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Sandal gap, Posteriorly rotated ears, Small for gestatio... |
OMIM:616835 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... |
OMIM:213980 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla... |
OMIM:612731 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib mor... |
ORPHA:96061 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, H... |
OMIM:265050 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Dysmetria, Weight loss, Abnormal shoulder morphology, EEG ... |
ORPHA:157941 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Metatarsus adduc... |
OMIM:612513 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Posteriorly rotated ears, Severe short stature, Micromelia, Bowing of the legs,... |
ORPHA:1865 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bo... |
OMIM:215250 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m... |
ORPHA:2409 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Elbow dislocation, Acces... |
OMIM:150250 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Micrognathia, Reduced bone mineral density, Short clavicles, Wormian bones |
OMIM:619322 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine conce... |
ORPHA:29073 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Inability to walk, Tongue thrusting, Gait... |
OMIM:619580 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor... |
ORPHA:1435 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Micrognathia, Hyperlordosis, High iliac wing, Asymmetry of the th... |
ORPHA:2780 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Arachnodactyly, Ataxia, Reduced bone mineral density, Osteoporosis of vertebrae |
ORPHA:243 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli... |
OMIM:277600 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Contractures of ... |
ORPHA:2457 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase concentration, Micrognat... |
ORPHA:496641 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Anuria, Elevated ci... |
ORPHA:99829 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist... |
OMIM:620073 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abs... |
ORPHA:1215 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Humeral pseudarthrosis, Compulsive behaviors, Conductive hearing impai... |
ORPHA:2044 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Short palm, Clinodactyly of the 5th finger, ... |
OMIM:156200 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ... |
ORPHA:2762 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Tinnitus |
ORPHA:403 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Contracture of the proximal inter... |
OMIM:620141 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
Birk-Landau-Perez Syndrome |
|
Camptocormia, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M... |
OMIM:617595 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, EEG with parietal epileptiform discharges, Ataxia, Glomerulonephritis, Microcephaly... |
OMIM:619428 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Joint stiffness, Reduced bone mineral density, Decreased circulating total IgM... |
OMIM:620210 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholes... |
OMIM:118450 |
Melas |
|
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad... |
ORPHA:550 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia,... |
ORPHA:2588 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Hypoplasia of the ma... |
ORPHA:96129 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea... |
ORPHA:35173 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Scoliosis, Joint subluxation, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Feta... |
ORPHA:50810 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Aggressive behavior, Microcephaly, Scissor gait, 2-3 toe syndactyly,... |
OMIM:619121 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive |
OMIM:174900 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Microce... |
OMIM:620001 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... |
OMIM:113650 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Failure to thrive in infancy, Abnormal foot morphology, Reduced bone mineral density... |
ORPHA:834 |
Nail-Patella Syndrome |
|
Back pain, Pes planus, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Sensorineural hearing impa... |
OMIM:161200 |
Shukla-Vernon Syndrome |
|
Impulsivity, Tapered finger, Aggressive behavior, Long fingers, Attention deficit hyperactivity d... |
OMIM:301029 |
Liddle Syndrome |
|
Hypokalemia, Constipation |
ORPHA:526 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repetitive mannerism... |
OMIM:618917 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat... |
ORPHA:231214 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Sh... |
OMIM:617022 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T... |
ORPHA:2215 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm... |
OMIM:109400 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short stat... |
ORPHA:261323 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... |
ORPHA:411986 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Small for gestational age, Prominent nose, Micrognathia, Microcephaly, Failure to thrive, Hyperpl... |
OMIM:620194 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... |
ORPHA:371428 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:71518 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with central focal spikes, Cholecystitis, Abnormal repetitive mannerisms, Broad metacarpals, ... |
OMIM:301066 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Developmental And Epileptic Encephalopathy 64 |
|
Micrognathia, Microcephaly, Inability to walk, Self-injurious behavior, Bruxism, Macrotia, Abnorm... |
OMIM:618004 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Micrognathia, Hypoplasia of the maxilla, Flexion co... |
OMIM:180849 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d... |
ORPHA:1647 |
Charge Syndrome |
|
Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bone mineral dens... |
ORPHA:138 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
Marshall Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Hypopla... |
ORPHA:560 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse... |
ORPHA:955 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Micrognathia, Short neck, Abnormal rib morphology, Abnorma... |
ORPHA:1834 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
Romano-Ward Syndrome |
|
Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment |
ORPHA:101016 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Dysmetria, Abnormal optic disc morphology, Chronic... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Asymmetry of the ears, Microcephaly, Overweight, Sensor... |
OMIM:617796 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
22Q11.2 Duplication Syndrome |
|
Micrognathia, Microcephaly, Anterior creases of earlobe, Growth delay, Compulsive behaviors, Atte... |
ORPHA:1727 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Silver-Russell Syndrome 2 |
|
Relative macrocephaly, Delayed closure of the anterior fontanelle, Micrognathia |
OMIM:618905 |
Cleft Velum |
|
Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Recurrent otitis media, Aspiration pneumoni... |
ORPHA:99772 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Thoracolumba... |
OMIM:252500 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Coxa valga, Tapered finger, Absent frontal sinus... |
OMIM:301040 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Scoliosis, Brachydactyly |
ORPHA:1133 |
Familial Tumoral Calcinosis |
|
Hyperostosis |
ORPHA:53715 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Wormian bones, Malar flattening,... |
OMIM:613849 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Aggressive behavior, Tapered finger, Attention deficit hyperactivity d... |
OMIM:618825 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Pterygi... |
OMIM:224410 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Short stature, Hearing impairment, Micrognathia, Postnatal growth reta... |
OMIM:300867 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffne... |
OMIM:253200 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:391474 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limite... |
OMIM:300280 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Galactosemia I |
|
Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Aminoaciduria, Albuminur... |
OMIM:230400 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Failure to thrive, Megacystis, Reduced bone mineral density |
ORPHA:977 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hypomethioninemia, Microcephaly, Postnatal growth retardation, Osteoporosis, Hyperhom... |
ORPHA:2169 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Pes planus, Posteriorly rotated ears, Joint hypermobility, Ataxia, Tapered... |
OMIM:617804 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Vertebr... |
ORPHA:1323 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Increased skull ossification, Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab... |
ORPHA:2791 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Limb ataxia, Leg muscle stiffness, Difficulty walking, Dysphagia, P... |
ORPHA:251282 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypokalemia, Polydipsia, Tinnitus |
ORPHA:369929 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Andersen-Tawil Syndrome |
|
Joint laxity, Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:37553 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Small for gestatio... |
ORPHA:221016 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff... |
ORPHA:227982 |
Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ... |
OMIM:604757 |
Sturge-Weber Syndrome |
|
Hyperostosis |
ORPHA:3205 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Abnormality of th... |
ORPHA:163649 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Low plasma citrulline, Larg... |
OMIM:219150 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Constipation, Hyperplasia of the maxilla |
OMIM:617616 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hea... |
ORPHA:199306 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
Cinca Syndrome |
|
Joint dislocation, Delayed closure of the anterior fontanelle, Elevated circulating C-reactive pr... |
ORPHA:1451 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Failure to thrive, Anteverted nares, Choanal atr... |
OMIM:602535 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Wide anterior fontanel, Hypsarrhythmia, Abnormal cochlea morphology,... |
ORPHA:798 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Ataxia, Coxa valga, Elbow dislocation, Inability to wal... |
OMIM:620083 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Abnormal fingertip morphology |
ORPHA:529965 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Short stature, Thickened helices, Proportionate short stature... |
OMIM:608328 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Ata... |
ORPHA:909 |
Potocki-Shaffer Syndrome |
|
Wormian bones, Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Short metatarsal, Small hand, Short foot, Short palm, Short phalanx... |
OMIM:180870 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Plantar hyperkerat... |
ORPHA:221008 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Aggressive behavior, Optic atrophy, 2-3 toe syndactyly, Self-injurious behavior... |
ORPHA:313892 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... |
ORPHA:95699 |
Richards-Rundle Syndrome |
|
Reduced bone mineral density, Ataxia, Gait disturbance, Joint stiffness |
ORPHA:1399 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... |
ORPHA:209905 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Sandal gap, Posteriorly rotated ears, Short hallux, Tapered finger, Hypoplasia of ... |
OMIM:608156 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,... |
OMIM:620292 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl... |
ORPHA:1515 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Overlapping toe, Short s... |
OMIM:613026 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Oral-pharyngeal dysphagia, Prominent protruding coccyx, Protruding ear, Chronic otiti... |
OMIM:300966 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity,... |
ORPHA:251004 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Os odontoideum, Hip dislocation, Talipes equinovarus, Wormian bones, De... |
OMIM:616603 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hearing impairment, Micrognathia, Absent radius, Preaxial hand p... |
ORPHA:233 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Mul... |
OMIM:245600 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Abnormal diaphysis morphology, Scoli... |
ORPHA:1657 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Abnormal femur morphology, Upper lim... |
ORPHA:2063 |
Bainbridge-Ropers Syndrome |
|
Pes planus, Failure to thrive, Ulnar deviation of the hand, Arachnodactyly, Posteriorly rotated e... |
OMIM:615485 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... |
OMIM:129400 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplastic coccygeal vertebrae,... |
OMIM:619512 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Thickened helices, Tracheomalaci... |
ORPHA:261494 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Sho... |
OMIM:620369 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Elevated circulating creatinine concentratio... |
OMIM:614376 |
Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Postn... |
ORPHA:3309 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Multiple joint dislocation, Anterior atlanto-occipital disloc... |
ORPHA:536467 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Protruding ear, Abnormal repetitive mannerisms, Hyperactivity,... |
OMIM:309590 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma, Conjunctivitis, Atresia ... |
OMIM:106260 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic gait, Gait ataxia, Abnormal pelvic girdle bone morphology, Gait disturbance, Pes cavus, C... |
OMIM:601162 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Secondary microcephaly, Jo... |
OMIM:616881 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Tracheomalacia, Micrognathia, Metatarsus adductus, Abnormal repetitive manneris... |
ORPHA:513456 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Abnormal pinna morphology, Microcephaly, Inability to walk, Patellar aplasia, Patellar hypoplasia... |
ORPHA:495818 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Microgn... |
ORPHA:2886 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia |
ORPHA:93283 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, D... |
OMIM:620242 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior fontanel, Unsteady gait, M... |
ORPHA:457279 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Absent thumb, Micrognathia |
OMIM:613951 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Vertebral compression fracture, Reduced bone miner... |
OMIM:112240 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Ataxia, Craniosynostosis, Joint stiffness, Pectus excav... |
ORPHA:309282 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Acne, Short stature, Micrognathia, Seborrheic dermatitis, Microc... |
OMIM:188400 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal palmar dermatoglyphics, Lowe... |
ORPHA:2092 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... |
ORPHA:93473 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Microcephaly, Inability to walk, Sensorineural hearing impairment, Hypsarrhythmia, EEG with front... |
ORPHA:457351 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Periostitis, Os... |
OMIM:612852 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Pitt-Hopkins Syndrome |
|
Short metatarsal, Narrow foot, Gait ataxia, Finger clinodactyly, Thickened helices, Ataxia, Taper... |
ORPHA:2896 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Prominent metopic ridge, Microcephaly, Genu valgum, Chronic constipation, ... |
OMIM:619721 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Abnormal thorax morphology, Short femor... |
ORPHA:1708 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Abnormal repetitive mannerisms, Oppositional defiant disorder, Pap... |
ORPHA:580 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Knee flexion contracture, Abnormal repetitive... |
ORPHA:468631 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Aplasia/Hypoplas... |
ORPHA:2753 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperactivity, Hyperextensibility at elbow, Rhizomelia, Short sta... |
ORPHA:319182 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the elbow, Prominent nasal bridge, Hypoplasia of the premax... |
ORPHA:2673 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... |
OMIM:612394 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex o... |
OMIM:557000 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Diabetes insipidus, Polyuria, Megacystis |
OMIM:304800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density |
ORPHA:2720 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Wide nasal bridge, Metopic synostosis, Macrocephaly, Joint contracture of the h... |
OMIM:175700 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Hypercalcemia |
ORPHA:2123 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Short stature, Micrognathia, Postnatal growth retardat... |
OMIM:225410 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, A... |
ORPHA:828 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint ... |
OMIM:619115 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Tinnitus |
ORPHA:404 |
Gapo Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Abnormal thorax morphology, Abnormal form of the vert... |
ORPHA:2067 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Constipation, Neonatal hyperbilirubinemia, De... |
ORPHA:95717 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... |
OMIM:259100 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma... |
OMIM:269150 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Abnormal bone ossification, Clinodact... |
ORPHA:79324 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Preaxial hand poly... |
ORPHA:261318 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Talipes calcaneovalg... |
ORPHA:2962 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Thickened helices, Micrognathia, Aplasia of the... |
ORPHA:648 |
Rett Syndrome |
|
Increased serum pyruvate, Inability to walk, Hyperammonemia, EEG abnormality, Progressive microce... |
ORPHA:778 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Microcephaly, Small hand, Macrocephaly, Short foot, Agitation, Abnormal autonomic nervous system ... |
OMIM:617903 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Micrognathia, Patellar aplasia, Deep plantar creases, Low-set ears, Clin... |
ORPHA:96167 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephropathy, Nephroca... |
OMIM:613404 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Optic atr... |
OMIM:123500 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Structural foot deformity, Protruding ear, Clinodactyly of the 5th f... |
ORPHA:464306 |
Parietal Foramina 1 |
|
Wormian bones, Macrocephaly |
OMIM:168500 |
Peters-Plus Syndrome |
|
Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limited elbow movement, Sho... |
OMIM:261540 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Decreased body weight, Retrognathia, Prominent nose |
OMIM:617926 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
Wiskott-Aldrich Syndrome |
|
Hyperostosis, Abnormal platelet function, Arthritis |
ORPHA:906 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Bulbous nose, Large fontanelles, Ga... |
OMIM:612940 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia,... |
OMIM:619991 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Pes planus, Hyperactivity, Joint laxity, Aggressive behavior, Self-injurio... |
ORPHA:449291 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:276621 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype... |
OMIM:615108 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo... |
OMIM:617746 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Absent nasal septal cartilage, Wide ... |
OMIM:610828 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Increased femoral... |
OMIM:609460 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Broad palm, Short ... |
OMIM:269860 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Lower limb asymmetry, Cranial hyperostosis, Scoliosis |
OMIM:612918 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density |
ORPHA:1414 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Short stature, Joint stiffness, Abnormality of cartilage of external ear, Recu... |
ORPHA:324313 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val... |
OMIM:615630 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Hyperactivity, Skin rash, Arachnodactyly, Slender build, Attention deficit hyperactiv... |
OMIM:617600 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc... |
OMIM:613686 |
Oculodentodigital Dysplasia |
|
Ataxia, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle... |
OMIM:164200 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms... |
ORPHA:353281 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Generalized joint laxity, Abnormal optic disc morphology, Hy... |
ORPHA:508498 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Extra concha fold, Micrognathia,... |
OMIM:209885 |
White-Sutton Syndrome |
|
Ventral hernia, Joint laxity, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Short sta... |
ORPHA:468678 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoparathyroidism |
ORPHA:496756 |
3Mc Syndrome 1 |
|
Omphalocele, Single interphalangeal crease of fifth finger, Hearing impairment, Microcephaly, Pos... |
OMIM:257920 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Diaphyseal thickening |
ORPHA:1551 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Arachnodactyly, Ro... |
OMIM:201750 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of carpal bones, Advanced tars... |
OMIM:215045 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri... |
OMIM:212138 |
Rett Syndrome |
|
Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, EEG abnormality, ... |
OMIM:312750 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Ag... |
OMIM:610829 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Osteoporosis, Increased susc... |
OMIM:612199 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath... |
ORPHA:382 |
Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Broad hallux, Ataxia, Micrognathia, Microcephaly, Cupped ear, Recurrent hand fla... |
OMIM:617062 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Treacher-Collins Syndrome |
|
Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Mu... |
ORPHA:861 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Pes planus, Broad-based gait, Underdeveloped superior crus of antiheli... |
ORPHA:369950 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype... |
OMIM:615109 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar flattening, Shor... |
OMIM:601853 |
Hamamy Syndrome |
|
Osteopenia, Hypoparathyroidism, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Cry... |
OMIM:611174 |
Leprechaunism |
|
Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal... |
ORPHA:508 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Failure to thrive in infancy, Abnormal morphology of ulna, Short... |
ORPHA:1340 |
Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Prominent fingertip pads, Abnormal repetitive mannerisms |
OMIM:617682 |
Lessel-Kreienkamp Syndrome |
|
Gastroesophageal reflux, Wide cranial sutures, Dental malocclusion, Wide nasal bridge |
OMIM:619149 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... |
ORPHA:235 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma... |
ORPHA:742 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... |
OMIM:263650 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Gou... |
ORPHA:90041 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Taper... |
ORPHA:464311 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab... |
ORPHA:3412 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Broad hallux, ... |
OMIM:614188 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms |
OMIM:301094 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Failure to thrive, Prominent metopic ridge, Prominent nose, Long nose, Micrognathia, M... |
ORPHA:2995 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Delayed cranial suture clo... |
OMIM:619127 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Microcephaly, Gait ataxia, Low-set ears, Umbilical hernia, Abnormal repetitive mannerisms, Joint ... |
OMIM:616579 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Cartilage destruc... |
ORPHA:829 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scolios... |
OMIM:619269 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital diaphragmatic hernia, Short... |
OMIM:157800 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Micrognathia,... |
OMIM:151050 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Microcephaly, Right unilambdoid synostosis, Bic... |
OMIM:616602 |
Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central incisor, Broad-based g... |
OMIM:618067 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrocephaly |
OMIM:618504 |
Floating-Harbor Syndrome |
|
Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Joint stiffness, Pectus carinatum, Arthritis, Anterior b... |
ORPHA:93 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased circulating renin level, ... |
OMIM:214700 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Dysmetria, Protruding ear, Gait ataxia, Sh... |
OMIM:614756 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint la... |
ORPHA:1596 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Ab... |
ORPHA:2990 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Conjunctivitis, Chronic otitis media, Small earlobe, Prom... |
OMIM:616268 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Delayed cranial suture closure, Micrognathia |
OMIM:180860 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Short stature, Ataxia, Proximal placement of thumb, Postnatal ... |
OMIM:616263 |
Silver-Russell Syndrome |
|
Relative macrocephaly, Failure to thrive in infancy, Cachexia, Micrognathia, Obesity, Gastroesoph... |
ORPHA:813 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular aplasia, Synotia, Narrow internal auditory canal, A... |
ORPHA:990 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Limited elbow movement, Joint stiffness, Micrognathia, D... |
OMIM:614008 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Tapered finger, Microcephaly, 2-3 toe syndactyly, Obesity, Low-... |
OMIM:618653 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Bulbous nos... |
ORPHA:261144 |
3Mc Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Craniosynostosis, Postnatal growth retardation, Hi... |
ORPHA:293843 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Pes planus, Short stature, Overweight, Sensorineural hearing impairment, Head-banging, Macrocepha... |
OMIM:619575 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Conductive hearing impairment, Intrauterine growth retardation, Abnormal repetitive... |
OMIM:194190 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Absent thumb |
OMIM:276950 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape... |
OMIM:200990 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Microcephaly, Gastroesophageal reflux, Constipation |
ORPHA:50 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly |
OMIM:603467 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Posteriorly rotated ears, Tapered finger, Congenital diaphragma... |
OMIM:301044 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Obesit... |
OMIM:105830 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Tinnitus, Decreased circulating renin level |
ORPHA:231632 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Hyperactivity, Gait ataxia, Macrocephaly, Macrotia, Abnormal repetitive ma... |
OMIM:300486 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec... |
OMIM:122470 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension |
ORPHA:369873 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Rett Syndrome, Congenital Variant |
|
Pes planus, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Talipes equinovarus, Br... |
OMIM:613454 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microcephaly, Absent nares, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2166 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... |
OMIM:154780 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial i... |
ORPHA:904 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Hypocalcemic tetany, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczemato... |
ORPHA:83471 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.... |
OMIM:619317 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Oral-pharyngeal dysphagia, Short long bo... |
OMIM:619184 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... |
OMIM:194050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetit... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetit... |
ORPHA:353277 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal clavicle morphology, Ataxia, Joint stiffness, Avascular necro... |
ORPHA:581 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Impulsivity, Microcephaly, Spina bifida occulta, Protruding ear, Growth delay, Mic... |
OMIM:301030 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Gastroesophageal reflux, Recurrent aphthous s... |
OMIM:616260 |
Transketolase Deficiency |
|
Hearing impairment, Seborrheic dermatitis, Proportionate short stature, Uveitis, Self-injurious b... |
ORPHA:488618 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:306542 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal rib m... |
ORPHA:1163 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Joint l... |
OMIM:619475 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Microcephaly, Macrotia, Prominent antihelix, Inappropriate laughter, Enamel hypopl... |
OMIM:615802 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent fingertip pads, Ad... |
OMIM:615873 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose, Fail... |
OMIM:613038 |
Rhizomelic Chondrodysplasia Punctata |
|
Limb undergrowth, Abnormal metaphysis morphology, Rhizomelia |
ORPHA:177 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype... |
OMIM:158350 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Primary adrenal in... |
ORPHA:275761 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Inability to walk, Small hand, Hypsarrhythmia, Short foot, Abnormal repetitive ma... |
OMIM:300672 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Ataxia, S... |
ORPHA:280 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Rib fusion, Vertebral ... |
OMIM:148050 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, 2-3 toe syndactyl... |
OMIM:617164 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, C... |
OMIM:614437 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... |
ORPHA:91 |
Dyskeratosis Congenita |
|
Coarse metaphyseal trabecularization, Short stature, Recurrent fractures, Hypoplasia of the maxil... |
ORPHA:1775 |
Sarcoidosis |
|
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Abn... |
ORPHA:797 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... |
ORPHA:116 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Disl... |
OMIM:102500 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:29072 |
Dpagt1-Cdg |
|
EEG with generalized slow activity, Arachnodactyly, Lipodystrophy, Ataxia, Aggressive behavior, M... |
ORPHA:86309 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Coxa valga, Long fingers, Flexion contracture, Flared metaphysis, Large... |
OMIM:617561 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Vasculitis, Abnormal circulating interl... |
ORPHA:70578 |
Zttk Syndrome |
|
Relative macrocephaly, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Flexion contra... |
OMIM:617140 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Growth delay, Hearing impairment |
ORPHA:782 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Wide ant... |
ORPHA:357058 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cryptorchidism, Cardiomyopathy, Aminoaciduria, Arrhythmia |
OMIM:249270 |
Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia |
ORPHA:2220 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Eunuchoid habitus, Hypoplasi... |
ORPHA:3044 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Umbilical hernia, Hearing impa... |
OMIM:601499 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Microcephaly |
OMIM:259410 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Small for gestational age, Short stature, Increased VLDL cholesterol concentration,... |
OMIM:243800 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Reduced bone mineral density |
ORPHA:848 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Attached earlobe, Mixed hearing impairme... |
ORPHA:1299 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi... |
ORPHA:254528 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Ataxia, Microcephaly, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperal... |
ORPHA:927 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Aplasia/... |
ORPHA:1225 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Otoonychoperoneal Syndrome |
|
Popliteal pterygium, Abnormal diaphysis morphology, Knee flexion contracture |
ORPHA:2793 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu... |
ORPHA:477 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Overlapping... |
ORPHA:79330 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, ... |
ORPHA:464288 |
Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Micrognathia, Long nose, Microcephaly, Wide nasal bridge, Vom... |
ORPHA:2135 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Depressed nasal bridge, Constipation, Abnormal circulating thyroglobu... |
ORPHA:95716 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge... |
ORPHA:86822 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Mi... |
ORPHA:920 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Microcephaly, Hair-pulling, Self-injurious behavior, Talipes equinov... |
OMIM:616393 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria... |
OMIM:604273 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Abnormal repetit... |
ORPHA:208447 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia |
ORPHA:2842 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Hearing impairment, Micrognathia, Short stature... |
ORPHA:3338 |
Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna |
OMIM:144755 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Short stature, Slend... |
ORPHA:2834 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Abnormality of the hand, Micrognathia, Pectus excavatum, Hyperlordosis, Metaphysea... |
OMIM:234100 |
Mercury Poisoning |
|
Hypokalemia, Episodic vomiting, Nausea |
ORPHA:330021 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension... |
ORPHA:549 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Calvarial hyperostosis |
OMIM:612714 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Short stature, Craniosynostosis, Limited wrist movement, Postna... |
ORPHA:576 |
Aicardi Syndrome |
|
Block vertebrae, Prominence of the premaxilla, Anteverted nares, Microcephaly |
OMIM:304050 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz... |
OMIM:180700 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Pes planus, Joint laxity, Overlapping... |
OMIM:617402 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Antecubital pter... |
ORPHA:40366 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Posteriorly rotated ears, Short stature, Ataxia, Tapered finger, Microcephaly, ... |
OMIM:617330 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Compulsive behaviors, Clinodactyly of the 5th finger, Abnormal repetitive mannerism... |
ORPHA:177907 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Igg4-Related Thyroid Disease |
|
Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Dysphagia, Hashimoto thyroiditis |
ORPHA:64744 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Aspiration pneumonia, Dysphagia, Loss of ambulatio... |
ORPHA:79264 |
Prolactinoma |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... |
ORPHA:2965 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Posteriorly rotated ears, Small for gestational age, Tibial torsion, Short ... |
OMIM:613355 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum |
ORPHA:1035 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Microcephaly, Postnatal growth re... |
OMIM:210900 |
1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Lo... |
ORPHA:1606 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Coxa valga, Inability to walk, Achilles tendo... |
ORPHA:404454 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia |
ORPHA:90790 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Microcephaly, Head-banging, Low-set ears, Attention deficit hyperactivity ... |
OMIM:619103 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,... |
ORPHA:168491 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology |
ORPHA:2028 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Short stature, Aggressive behavior, Sensorineural hearing impairment, Hyperlipidemi... |
ORPHA:293987 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M... |
OMIM:610706 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Abnormal repetitive mannerisms, Simple ear, Joint laxity, Short sta... |
OMIM:619325 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max... |
OMIM:211380 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Arrhythmia |
OMIM:273400 |
Tick-Borne Encephalitis |
|
Stiff neck, Facial palsy, Elevated circulating C-reactive protein concentration, Anorexia, Vertig... |
ORPHA:297 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Hy... |
ORPHA:33475 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Microcephaly, Bulbous nose, Wormian bones, Retrognathia |
OMIM:618644 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:241800 |
Dpm1-Cdg |
|
Sandal gap, Elevated circulating creatine kinase concentration, Micrognathia, Camptodactyly, Limb... |
ORPHA:79322 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Progressive flexion contractures, Ataxia, Equinus calcaneus, Repetitive compulsive ... |
ORPHA:522077 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Dysphagia |
ORPHA:79107 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormality of the foot musculature, Thin ribs, Calf mus... |
ORPHA:169189 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis, Thin clavicl... |
OMIM:275210 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcinosis, Ren... |
OMIM:208085 |
Werner Syndrome |
|
Low back pain, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral ... |
OMIM:277700 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Camptodactyly, Hyperammonemia, Micromelia |
OMIM:610015 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Palmar pits, Kyphosis, Plantar pits, Abnormal rib morphology, Joint... |
ORPHA:77301 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Weight l... |
ORPHA:354 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Short... |
ORPHA:85199 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Conjugated hype... |
OMIM:614887 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Abnor... |
ORPHA:1101 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Sarcoidosis, Susceptibility To, 1 |
|
Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Arthritis, Increased circulating antibody le... |
OMIM:181000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Prominent fi... |
OMIM:612474 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Limitation of joint mobility, Bell-shaped t... |
ORPHA:254519 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Chronic constipation, Short nose, Broad... |
OMIM:619383 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine... |
ORPHA:1556 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Jerky head movements, Dysphagia |
ORPHA:240103 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Long foot, Large for gestational age, Abnormal thumb morphology, Metatarsus addu... |
ORPHA:500095 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, I... |
OMIM:222700 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Increased head circumference, Conductiv... |
ORPHA:821 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Ulnar dev... |
OMIM:211750 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous... |
ORPHA:364577 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Limb undergrowth |
ORPHA:79243 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the knee, Osteoarthritis, Recurrent sinusitis, Narrow ma... |
OMIM:130000 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Limite... |
OMIM:101200 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Hyperhomocystinemia, Bell-shaped thorax,... |
OMIM:614857 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Long nose, Chronic constipation, Short nose, Failure to thrive, Narrow nose, Narro... |
OMIM:617602 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Flat acetabular roof, Abnormal mandible condylar process morphology, Genu valgum,... |
ORPHA:2976 |
Cornelia De Lange Syndrome |
|
Micromelia, Short neck, Proximal placement of thumb, Congenital diaphragmatic hernia, Clinodactyl... |
ORPHA:199 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, Broad thumb, Brachydactyly |
OMIM:612813 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Norrie Disease |
|
Failure to thrive, Cachexia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Protr... |
ORPHA:649 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Hypoplastic pubic ... |
OMIM:210730 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Arachnodactyly, Failure to thrive in infancy, Optic nerve hypoplasia, Abse... |
ORPHA:500150 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentrati... |
ORPHA:90068 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Short stature, Hypoplasia of the maxilla, Carious teeth, H... |
ORPHA:50814 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Abnormal pelvic girdle bone morpho... |
ORPHA:289 |
Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Growth delay, Bilateral sensorineural hear... |
ORPHA:66634 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Clinodactyly of th... |
OMIM:618870 |
Alg9-Cdg |
|
Microretrognathia, Low-set, posteriorly rotated ears, Omphalocele, Ulnar deviation of the hand, L... |
ORPHA:79328 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dis... |
OMIM:182250 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Primary hyperaldosteronism, Le... |
OMIM:615474 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Hyperlipidemia |
ORPHA:199276 |
Achondrogenesis, Type Ib |
|
Short ribs, Micromelia |
OMIM:600972 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Hip dislocation, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
Juvenile Polyposis Of Infancy |
|
Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Broad phalanx of the... |
ORPHA:79076 |
Monosomy 22Q13.3 |
|
Hyperactivity, Recurrent skin infections, Hair-pulling, Dental malocclusion, Obesity, Macrocephal... |
ORPHA:48652 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... |
ORPHA:99147 |
Dermotrichic Syndrome |
|
Aminoaciduria, Hypohidrosis |
ORPHA:99688 |
D-Bifunctional Protein Deficiency |
|
Depressed nasal bridge, Micrognathia, Large fontanelles, Retrognathia, Increased circulating very... |
OMIM:261515 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Abnormal cranial nerve morph... |
ORPHA:90024 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib... |
OMIM:616546 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness |
OMIM:252920 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Sho... |
OMIM:619879 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Hearing impairment, Micro... |
OMIM:606170 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t... |
ORPHA:818 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... |
OMIM:276700 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Increased femoral anteversion, EEG abnormality, Attention deficit hyperactivity dis... |
OMIM:619005 |
Achondrogenesis |
|
Micromelia, Micrognathia |
ORPHA:932 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Abnorma... |
OMIM:300855 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased serum seroton... |
ORPHA:100080 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Methylmalonic aciduri... |
OMIM:612073 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Clinodactyl... |
ORPHA:3121 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bone morpholo... |
OMIM:102700 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tap... |
OMIM:619841 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Micrognathia |
OMIM:617237 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius |
ORPHA:140952 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
Campomelia, Cumming Type |
|
Bowing of the long bones |
OMIM:211890 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage |
ORPHA:169805 |
Shwachman-Diamond Syndrome 2 |
|
Metaphyseal widening, Anterior rib cupping, Metaphyseal irregularity, Genu varum |
OMIM:617941 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Microcephaly, Hypoplasia of the maxilla, Carious teeth, Split ha... |
OMIM:129900 |
Menkes Disease |
|
Wormian bones, Decreased circulating ceruloplasmin concentration, Microcephaly |
OMIM:309400 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac... |
ORPHA:3380 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly of finger, Co... |
ORPHA:261330 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Overlapping toe, Unsteady gait, Reduced bone mineral density, Scoliosis, Clinodactyly... |
OMIM:616682 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Scrub Typhus |
|
Myocarditis, Renal insufficiency, Hypotension, Hyperhidrosis |
ORPHA:83317 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Microgn... |
OMIM:208150 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe,... |
ORPHA:2750 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... |
ORPHA:247815 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... |
OMIM:604292 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Microcephaly, Self-injurious behavior, Attention deficit hyperactivity disorder,... |
OMIM:618354 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Delayed closure of the anter... |
OMIM:607812 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Posteriorly rotated ears, Short stature, Tapered finger, Carious teeth, Short thumb, M... |
OMIM:619522 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... |
ORPHA:63259 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased... |
ORPHA:100082 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial... |
ORPHA:261112 |
Developmental And Epileptic Encephalopathy 100 |
|
Micrognathia, Bilateral camptodactyly, Small hand, Elbow flexion contracture, EEG with photoparox... |
OMIM:619777 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Short nec... |
OMIM:613610 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Micrognathia, Wormian bones, Malar flattening |
ORPHA:2789 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Gastroesophageal reflux, Vomiting, Failure to thrive |
OMIM:618426 |
Benign Schwannoma |
|
Facial palsy, Hearing abnormality, Vertigo, Abnormal fibula morphology, Abnormality of the twelft... |
ORPHA:252164 |
Cloacal Exstrophy |
|
Abnormal tibia morphology, Absent foot, Hip dislocation, Abnormal fibula morphology, Hemivertebra... |
ORPHA:93929 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ... |
ORPHA:1855 |
Dextrocardia |
|
Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Hall-Riggs Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:2107 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Hypsarrhythmia, Protruding ear, Seconda... |
ORPHA:447997 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc... |
ORPHA:36238 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Micrognathia, Small hand, Reduced bone mineral density, Short foot, Rib exos... |
ORPHA:2108 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Diarrhea, Elevate... |
ORPHA:99826 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Missing ribs, ... |
ORPHA:97360 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pancreatitis, Hypercalciuria, Steatorrhea |
OMIM:219700 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis |
OMIM:614688 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Micrognathia, Absent... |
ORPHA:2363 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosi... |
ORPHA:99827 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Arth... |
ORPHA:3452 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock, Increased cir... |
ORPHA:100075 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Hartsfield Syndrome |
|
Wide nose, Craniosynostosis, Microcephaly, Hypernatremia, Hypoplasia of the frontal bone |
OMIM:615465 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Micrognathi... |
OMIM:230740 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Depressed nasal bridge, Abnormal circulating thyroglobulin level, Con... |
ORPHA:90674 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Alstrom Syndrome |
|
Pes planus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperostosis... |
OMIM:203800 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611134 |
Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:2655 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ... |
OMIM:618529 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Camptodacty... |
OMIM:214110 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements, Microcephaly |
OMIM:245348 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... |
OMIM:263400 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Xerostomia, Failure to thrive |
ORPHA:238468 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Osteoporosis, Osteolysis, Hypotension, Patholog... |
ORPHA:98850 |
Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:93274 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Progressive gait ataxia, Flexion contracture, Broad-based gait |
ORPHA:157946 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... |
ORPHA:100078 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Short distal phalanx of finger, Broad thumb, Brachydactyly |
ORPHA:1784 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Hypertriglyceridemia, Rocker ... |
ORPHA:79474 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Cranial hyperos... |
ORPHA:330015 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl... |
ORPHA:2908 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Serotonin Syndrome |
|
Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury |
ORPHA:43116 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral... |
ORPHA:228123 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Absent nasal septa... |
OMIM:157170 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension |
ORPHA:134 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ... |
OMIM:615368 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
D-Glyceric Aciduria |
|
Aminoaciduria, Bradycardia, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the ... |
OMIM:278250 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Micrognathia, Wormian bones, Malar flattening, Short nasal bridge |
OMIM:130720 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Short stature, Carious teeth, Vertigo, Aplasia/Hypop... |
ORPHA:286 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Abnormal ... |
ORPHA:261537 |
Fryns Syndrome |
|
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Single transverse palmar crea... |
OMIM:229850 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypoplasia of the p... |
OMIM:617063 |
Netherton Syndrome |
|
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... |
ORPHA:634 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Conductiv... |
ORPHA:2152 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, 3-Methylgl... |
ORPHA:20 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Hypertriglyceridemia, Small for gestational age, E... |
OMIM:619573 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis |
OMIM:601345 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Schisis Association |
|
Micromelia |
ORPHA:63862 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Micrognathi... |
OMIM:249000 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Clinodactyly of the 5th finger, Limb undergrowth, Abnormal carpal morphology, Short middle phalan... |
ORPHA:319675 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Nelson Syndrome |
|
Hypokalemia, Optic nerve compression, Quadriceps muscle atrophy |
ORPHA:199244 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, S... |
OMIM:164210 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Myocardi... |
ORPHA:466677 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... |
ORPHA:217085 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone |
ORPHA:563612 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... |
ORPHA:217093 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly |
OMIM:614800 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly... |
ORPHA:857 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Epiphyseal stippling, Aminoaciduria, Albuminuria... |
OMIM:214100 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... |
ORPHA:244242 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Abnormal cartilage morphology, Osteolysis, M... |
ORPHA:2396 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha... |
OMIM:616331 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Abnormal ... |
ORPHA:261552 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Slc39A8-Cdg |
|
Limb undergrowth, Cutaneous syndactyly of toes, Hypomanganesemia, Abnormal blood zinc concentration |
ORPHA:468699 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly, Ab... |
ORPHA:488632 |
Menkes Disease |
|
Bowing of the long bones, Tarsal synostosis, Micrognathia, Wormian bones, Abnormal metaphysis mor... |
ORPHA:565 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertens... |
ORPHA:58 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Delayed cranial suture closure, Wide nasal bridge,... |
OMIM:601088 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly, Abnormal circulating lipid concentration |
OMIM:616541 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Bowing of the legs |
OMIM:219250 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palmar crease, Micrognathia, C... |
ORPHA:83617 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Depressed nasal tip, Delaye... |
OMIM:620005 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... |
OMIM:606721 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... |
OMIM:229400 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Congenital Enterovirus Infection |
|
Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension |
ORPHA:292 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase... |
OMIM:619055 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly a... |
ORPHA:672 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ... |
OMIM:207900 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, ... |
ORPHA:2637 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Heart murmur, Ovarian neoplasm, Adrenocorticotropic hormone excess, Palpitati... |
ORPHA:100079 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hypothyroidism, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Mesomelia, Clinodactyly of the 5th finger, Metaphyseal irregulari... |
OMIM:618162 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Decreased circulating antibody level |
OMIM:616084 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Kyphos... |
OMIM:309800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Geleophysic Dysplasia 3 |
|
Limb undergrowth, Short foot, Brachydactyly |
OMIM:617809 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Tibial bowing, Mesomelia, Rhizomelia, Femoral bowing |
OMIM:616482 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Limb undergrowth, Talipes equinovarus |
OMIM:619124 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Large fontanelles, Radioulnar ... |
ORPHA:1272 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone,... |
OMIM:306955 |
Curry-Jones Syndrome |
|
Wormian bones, Bicoronal synostosis, Chronic constipation, Unicoronal synostosis |
OMIM:601707 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su... |
ORPHA:509 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Osteoporosis, Increased susceptibility to fractures, Syncope, Hypotension |
ORPHA:98849 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, U... |
OMIM:613406 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Wormian bones, Joint subluxation, Hip dislocation |
OMIM:617821 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
Childhood Absence Epilepsy |
|
Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hyperactivity disorder, Je... |
ORPHA:64280 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Wormian bones, Hyperlipidemia, Large fontanelles |
ORPHA:90153 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Large fontanelles, Depressed nasal ridge, Wide nasal bridge, Delayed cranial suture closure |
ORPHA:2211 |
Currarino Syndrome |
|
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Hyperactivity, Overlapping toe, Micromelia, Aggressive behavior, Metatarsus ad... |
OMIM:270400 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Finger clinodactyly, Talip... |
ORPHA:99776 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Large fontanelles, Cubitus valgus, Joint contracture of the hand, Malar... |
OMIM:611962 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Micrognathia, Carious teeth, Prominent nose, Bulbous no... |
OMIM:150230 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Depressed nasal bridge, Overweight, Constipation, Abnormal circulatin... |
ORPHA:226307 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Clinodactyly, Short phalanx of finger, Broad thumb, Camptoda... |
OMIM:616894 |
Meckel Syndrome |
|
Bowing of the long bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Po... |
ORPHA:564 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Medulloblastoma |
|
Progressive macrocephaly, Delayed cranial suture closure |
ORPHA:616 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth |
OMIM:618005 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Large fontanelles, Short columella, Constipation, Short nos... |
OMIM:601776 |
Microsporidiosis |
|
Osteomyelitis, Myocarditis, Abnormality of the parathyroid gland, Urethritis, Thyroiditis, Abnorm... |
ORPHA:2552 |
Desmosterolosis |
|
Metatarsus adductus, Micromelia, Micrognathia |
ORPHA:35107 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Stiff neck, Hypotension |
ORPHA:2912 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Telangiectasia of the skin, Precocious puberty, Osteoporosis, Osteolysis, Renovascula... |
ORPHA:97685 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Telangiectasia of the skin, Cryptorchidis... |
ORPHA:910 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog... |
ORPHA:141099 |
Sandifer Syndrome |
|
Abnormal head movements, Esophagitis, Hiatus hernia |
ORPHA:71272 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Microcephaly, Wide anterior fontanel, Hip dislocation, Joint subluxation, Delayed cranial suture ... |
ORPHA:90349 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage, Adrenal insufficienc... |
ORPHA:90062 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... |
OMIM:256520 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Hyperhidrosis |
OMIM:608643 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Leukocyte Adhesion Deficiency Type Ii |
|
Limb undergrowth, Overlapping toe |
ORPHA:99843 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Mesomelia, Micrognathia |
OMIM:613457 |
Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Microcephaly, Hip dislocation, Vomiting, Wormian bones, Delayed cranial suture c... |
ORPHA:90348 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro... |
ORPHA:3107 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria, Limited elbow extension |
ORPHA:85276 |
Acrocephalopolydactylous Dysplasia |
|
Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardi... |
OMIM:124000 |
Thauvin-Robinet-Faivre Syndrome |
|
Large hands, Large for gestational age, Long hallux, Bowing of the legs |
OMIM:617107 |
Branchiooculofacial Syndrome |
|
Depressed nasal bridge, Micrognathia, Broad nasal tip, Microcephaly, Cleft of chin, Elbow flexion... |
OMIM:113620 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, EEG with temporal sharp slow wa... |
ORPHA:217253 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Pseudohypoparathyroidism, Renal hypoplasia |
OMIM:617157 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Anteverted nares, D... |
OMIM:601803 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Micromelia |
ORPHA:1675 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Hip dislocation, Gastroesophageal reflux, C... |
ORPHA:285 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
C Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo... |
ORPHA:1308 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Short foot, Shor... |
ORPHA:93271 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Alström Syndrome |
|
Pes planus, Thoracic scoliosis, Hypertriglyceridemia, Ataxia, Kyphosis, Short toe, Hyperlipidemia... |
ORPHA:64 |
Plague |
|
Tachycardia, Hematemesis, Arthritis, Hypotension, Arrhythmia |
ORPHA:707 |