Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... |
ORPHA:2501 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Congenital foot contractu... |
OMIM:602484 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... |
ORPHA:40 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... |
OMIM:618395 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... |
OMIM:132400 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Small for gestational ... |
OMIM:166210 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... |
ORPHA:99642 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... |
ORPHA:3268 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... |
ORPHA:93324 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abn... |
ORPHA:73230 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Joint laxity, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5-S1, De... |
OMIM:600561 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Lumbar hyperlordosis, Short stature, Enlarged joints, Bowing of the legs, Pectus e... |
ORPHA:156728 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Waddling gait, Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa va... |
OMIM:184255 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Ovoid vertebra... |
ORPHA:63446 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... |
OMIM:244460 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Spinal rigidity, Reduced forced vit... |
OMIM:255600 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ... |
OMIM:618265 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short stature, Severe short st... |
OMIM:612921 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib mo... |
ORPHA:1988 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... |
OMIM:615155 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Short neck, Pectus excavatum, Hyperlordosis, Kyphosi... |
ORPHA:2522 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmona... |
ORPHA:97244 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Tip-toe gait,... |
OMIM:617404 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notch, Waddling ... |
OMIM:608728 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Hyperlordosis, Pectus excavat... |
OMIM:615290 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... |
ORPHA:1837 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... |
ORPHA:577 |
Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... |
OMIM:273750 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th... |
ORPHA:2463 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Short stature, Abn... |
ORPHA:582 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short stature, Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of fi... |
OMIM:182255 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Congenital foot contraction deformities, Hyperlordosis, Flexion contracture, Hip d... |
ORPHA:363454 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... |
OMIM:609325 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Iliac crest serration, Short neck, Postnatal growth retardation, Wide distal femor... |
OMIM:613320 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Scapular winging, Thoracic scoliosis, Hyperlordosis, Achilles tendon contracture, ... |
ORPHA:62 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibia... |
OMIM:601559 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, Hypoplas... |
ORPHA:958 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Respiratory insufficiency, Scoliosis |
OMIM:619042 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoraci... |
ORPHA:530983 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... |
OMIM:611209 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scoliosis, Diffic... |
OMIM:611067 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head |
OMIM:266255 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal,... |
OMIM:180870 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... |
OMIM:612350 |
Familial Anetoderma |
|
Lumbar hyperlordosis, Abnormal tibia morphology, Generalized joint laxity |
ORPHA:228277 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Scapular winging, Hyperlordosis, Achilles tendon contracture, Respiratory insuffic... |
OMIM:620389 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Ck Syndrome |
|
Slender build, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, Scoliosis, Abnormal cortical ... |
OMIM:300831 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Hypoplasia of the maxill... |
OMIM:608154 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bo... |
ORPHA:93315 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Osteoarthritis, Abnormal ossification... |
ORPHA:2114 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla... |
OMIM:608149 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... |
OMIM:600920 |
Mucolipidosis Iii Gamma |
|
Short stature, Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Short ne... |
OMIM:252605 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Short stature, Small for gestational age, Slender long bones... |
ORPHA:50811 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Inability... |
OMIM:616756 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Gait disturbance, Difficulty walking, Slender build, ... |
ORPHA:352470 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Delayed skeletal maturation, Cone... |
OMIM:102370 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Disproportionate short-trunk short stature, Hemivertebrae, Rib fu... |
OMIM:608681 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Decreased skul... |
OMIM:602361 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Waddling gait, Unsteady gait, Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture,... |
ORPHA:267 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the wrist, Abnormality of the ... |
ORPHA:2496 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Single transverse palmar cr... |
ORPHA:2332 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density, Pectus carinatu... |
OMIM:618392 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap... |
ORPHA:93307 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bod... |
OMIM:619451 |
Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C... |
OMIM:616549 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebral wedging, Pla... |
OMIM:616583 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... |
OMIM:171480 |
Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Shuffling gait, Adducted thumb |
OMIM:303350 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Waddling gait, Lumbar hyperlordosis, Broad hallux, Short stature, Accelerated skeletal maturation... |
OMIM:165800 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
Three M Syndrome 3 |
|
Short stature, Small for gestational age, Short neck, Hyperlordosis, Increased vertebral height, ... |
OMIM:614205 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... |
ORPHA:1354 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac... |
OMIM:611560 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Short stature, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Short stature, Limited elbow movement, Joint stiffness, ... |
OMIM:614008 |
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 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Squared ... |
OMIM:618000 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Severe short stature, Bilateral single transverse palmar cr... |
ORPHA:2511 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... |
OMIM:118651 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... |
OMIM:114300 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Unsteady gait, Ankle clonus, Steppage gait, Loss of ambulation |
OMIM:617054 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Scoliosis, Lower limb un... |
ORPHA:2310 |
Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Respiratory in... |
ORPHA:157973 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr... |
ORPHA:1445 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... |
OMIM:300718 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... |
OMIM:178110 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Inability to walk, Small hand, Gait ataxia, ... |
ORPHA:3095 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... |
OMIM:619636 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxi... |
OMIM:607095 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Wormian bones, Small for gestational age, Abnormality of the hand, Hyperlordosis, Pe... |
OMIM:234100 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recur... |
OMIM:602271 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... |
ORPHA:53697 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Severe short stature, Decreased body weight, Intrauterine gro... |
OMIM:618724 |
Thiemann Disease |
|
Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... |
OMIM:618188 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Failure to thrive, Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dis... |
ORPHA:96183 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio... |
ORPHA:1323 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Deep palmar crease, Sc... |
OMIM:617190 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... |
OMIM:313420 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epiphys... |
OMIM:190350 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema |
OMIM:267450 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Enlarged joints, Large tarsal bones, M... |
OMIM:215150 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short... |
OMIM:612813 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin... |
OMIM:259440 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
Nemaline Myopathy 2 |
|
Waddling gait, Apnea, Polyhydramnios, Spinal rigidity, Hyperlordosis, Respiratory insufficiency d... |
OMIM:256030 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Ck Syndrome |
|
Long toe, Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Slender build, J... |
ORPHA:251383 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Short stature, Scoliosis, Hyperlordosis |
ORPHA:408 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency d... |
OMIM:610687 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures |
OMIM:611369 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Single tran... |
ORPHA:915 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Small for gestational age, Short neck, Hip disloca... |
OMIM:615583 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion,... |
OMIM:617333 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Polyhydramnios, Spinal rigidity, Hyperlordosis, Respiratory insufficiency due to m... |
OMIM:161800 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Camptodactyly, Neonatal... |
OMIM:618393 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Short neck, Elbow... |
OMIM:264180 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Hyperlordosis |
OMIM:607088 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Abnormal cortical bone ... |
ORPHA:2097 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... |
ORPHA:296 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Failure to thrive... |
OMIM:615198 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,... |
OMIM:244600 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short stature, Missing r... |
OMIM:613686 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,... |
ORPHA:263508 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Failure to thrive, Short stature, Camptodactyly of finger, Multiple pterygia, ... |
ORPHA:2990 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis, Spastic gait |
OMIM:619966 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Gait disturbance, Hyperlordosis |
OMIM:614198 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... |
ORPHA:337 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
OMIM:255200 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Short stature, Camptodactyly of finger, Broad thumb, Short distal phalanx o... |
ORPHA:1471 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical ve... |
OMIM:609053 |
Desbuquois Syndrome |
|
Severe short stature, Genu recurvatum, Camptodactyly of finger, Coxa valga, Short neck, Elbow dis... |
ORPHA:1425 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... |
ORPHA:166272 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Scapular winging, Lumbar hyperlordosis, Broad-based gait, Limited knee flexion, Dyspnea, Hammerto... |
ORPHA:435387 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Short neck, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Rhizomelia, Sh... |
OMIM:602471 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
Bethlem Myopathy 2 |
|
Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Long foot, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:439822 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... |
ORPHA:177 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnor... |
ORPHA:1486 |
Tetrasomy X |
|
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... |
ORPHA:9 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Failure to thrive, Ca... |
OMIM:206920 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, Scoli... |
OMIM:618524 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Short hallux, Prox... |
ORPHA:2438 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of th... |
ORPHA:77258 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,... |
OMIM:614613 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Abse... |
OMIM:607323 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Elbow ... |
ORPHA:2916 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones, Bilateral single transverse... |
ORPHA:3191 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco... |
OMIM:184253 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm |
ORPHA:3238 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Obesity, Hand polydactyly, Scoliosis, Failure to thri... |
ORPHA:261197 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand,... |
ORPHA:281 |
Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna |
ORPHA:971 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation ... |
ORPHA:3068 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... |
ORPHA:508498 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... |
OMIM:620269 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Hyperlordosis, M... |
ORPHA:2780 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Intrauterine grow... |
ORPHA:1937 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... |
ORPHA:1842 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hemivertebra... |
ORPHA:377 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Coxa valga, Cubi... |
OMIM:269300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles... |
OMIM:607155 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Micrognathia, Postnatal growth retardation, Humerora... |
ORPHA:3404 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Hyperlordosis, Respiratory insufficiency, Steppage gait, Gait disturbance, Tip-... |
OMIM:620285 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp... |
OMIM:208150 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Lar... |
OMIM:213980 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Arthritis, Cough, Decreased DLCO |
OMIM:616414 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Short stature, Single transverse palmar crease, Short neck, Delayed... |
OMIM:148050 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp... |
ORPHA:2319 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Scoliosis... |
OMIM:620386 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Dyspnea, Gait disturbance, Falls, Slender build, Exertional dyspnea |
OMIM:615156 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Pectus excavatum, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th... |
ORPHA:765 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical scleros... |
OMIM:122860 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Unsteady gait, Lumbar hyperlordosis, Difficulty walking, Ankle flexion contracture |
OMIM:613818 |
Typical Nemaline Myopathy |
|
Waddling gait, Polyhydramnios, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion cont... |
ORPHA:171436 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... |
OMIM:614727 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Brachyolmia, Maroteaux Type |
|
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... |
ORPHA:93302 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Pectus carinatum, Scolios... |
ORPHA:1548 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Hi... |
OMIM:314580 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... |
OMIM:301014 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:241530 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology, Paget ... |
OMIM:167320 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Death in childhood, Wrist flexi... |
OMIM:610758 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia, Proportionate short stature, Osteoarthritis, Short thorax, Platyspondyly, Abnormal ep... |
ORPHA:93283 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short... |
ORPHA:171866 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:264700 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, ... |
OMIM:619751 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Sho... |
ORPHA:93298 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... |
ORPHA:1005 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Cohen Syndrome |
|
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar crease, Shor... |
OMIM:216550 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda... |
OMIM:616809 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... |
OMIM:112410 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Short stature, Delayed cranial suture closure, Decreased fibular diameter... |
OMIM:619127 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Delayed skeletal maturation, Hip osteoarthritis, Joint ... |
ORPHA:63442 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:277440 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction |
ORPHA:2380 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wide-cupped costochondral jun... |
OMIM:187601 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Short stature, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, ... |
ORPHA:93160 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Waddling gait, Reduced vital capacity, Ankle flexion contracture, Hyperlordosis, Sc... |
OMIM:617760 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Failure to thrive, Severe short stature, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Intrauteri... |
OMIM:617352 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck... |
OMIM:617159 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Short Stature, Brussels Type |
|
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Ca... |
ORPHA:2867 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Absent pubertal growth spurt, Flaring ... |
OMIM:250250 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Scoliosi... |
OMIM:615761 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulder... |
OMIM:109400 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren... |
ORPHA:2050 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Dehydration, Platyspondyly, Cone-shaped epiphyses of the distal phala... |
OMIM:618958 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... |
OMIM:618853 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... |
ORPHA:474 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Microgna... |
ORPHA:3409 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,... |
OMIM:215100 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Missing ribs, Hypoplastic ... |
OMIM:617866 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Pectus excavatum, Kyphosis, Obesity, Pectus carinatum, Large hands... |
ORPHA:276630 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Hemivertebrae, Hip dislocation, Flat acetabular r... |
OMIM:619345 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev... |
ORPHA:1240 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Broad-based gait, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Res... |
OMIM:181405 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Short stature, Limited elbow movement, Short neck, Limited knee flexi... |
OMIM:615065 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bo... |
ORPHA:52430 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature |
OMIM:614833 |
Myotonia Permanens |
|
Short stature, Hyperlordosis, Dyspnea, Asthma, Limitation of joint mobility, Gait disturbance |
ORPHA:99735 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hyperlordosis, Delayed skeletal maturation, Short 5th finge... |
ORPHA:557003 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal rigidity, Flexion contracture, Difficulty walking |
OMIM:609308 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Small for gesta... |
OMIM:616897 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra... |
ORPHA:93299 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... |
ORPHA:206546 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased... |
OMIM:616817 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Patent ductus ar... |
ORPHA:65759 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Gait disturbance, Hyperlordosis |
OMIM:618129 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... |
OMIM:118100 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Hyperlordosis, Distal joint laxity, Knee flexion contracture, Sc... |
OMIM:616228 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... |
ORPHA:289157 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Kyphosis, Hip dysp... |
OMIM:611890 |
Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal... |
OMIM:176920 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Inc... |
ORPHA:800 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Micrognathia, Split hand, Hand clenching, Abnormal pelvic ... |
OMIM:157900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Short stature, Abnormality of the hand, Hyperlordos... |
ORPHA:1387 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Hip dislocati... |
ORPHA:75840 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Kyphoscoliosis, Ankle flexion contracture, Calf muscle hypertrophy, Areflexia of lower limbs, Pes... |
OMIM:616668 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Respiratory insufficiency, Bell-sha... |
OMIM:615633 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri... |
OMIM:606612 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Small for gestational age, Ky... |
ORPHA:97360 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy... |
OMIM:617604 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... |
ORPHA:93384 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Short stature, Hypoplastic scapulae, Congenital hip dislocation,... |
OMIM:169550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Broad hallux, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, ... |
ORPHA:3433 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... |
OMIM:619698 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodac... |
ORPHA:1452 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Short stature, Kyphosis, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Ky... |
ORPHA:263463 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Delayed skeletal maturation, Tachypnea, Growth delay, Bell-shaped thorax, Pulmonary arterial hype... |
OMIM:614857 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... |
OMIM:212780 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Failure to thrive... |
ORPHA:436 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... |
OMIM:310200 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of capital femora... |
ORPHA:397715 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... |
ORPHA:2204 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Micrognathia, Perisylvian polymicrogyria, Osteoporosis, Failure ... |
OMIM:600118 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Intrauterin... |
OMIM:194190 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Sacral dimple, Short stature, Tapered finger, Accelerated skeletal maturation, Cont... |
OMIM:605130 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ... |
ORPHA:280 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Congenital knee dislocation, Bilateral t... |
ORPHA:319332 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin... |
OMIM:619467 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short toe, Obesity, Brachyda... |
ORPHA:3085 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Pectus carinatum, ... |
OMIM:617796 |
Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Delayed skeletal maturation, Limitation of joint mobi... |
ORPHA:3080 |
Bethlem Myopathy |
|
Waddling gait, Hypoventilation, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Multip... |
ORPHA:610 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly |
ORPHA:1276 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Short neck, Microgn... |
OMIM:224400 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Pectus carinatum, Hip dysplasia, Failure to thrive |
OMIM:620007 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis |
OMIM:146720 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon... |
ORPHA:163649 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, A... |
OMIM:618011 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Episodic tach... |
ORPHA:2872 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly |
ORPHA:221054 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru... |
ORPHA:2958 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crea... |
ORPHA:83617 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Nar... |
ORPHA:508533 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha... |
OMIM:157800 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea, Scoliosis |
OMIM:612285 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Asthma, ... |
OMIM:610978 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin... |
OMIM:618484 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Hyperlordosis... |
ORPHA:3130 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hypoxemia, Respiratory failure, ... |
ORPHA:70587 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... |
ORPHA:1147 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi... |
ORPHA:50 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint ... |
ORPHA:2655 |
Leri Pleonosteosis |
|
Severe short stature, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocatio... |
ORPHA:2900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Micrognathia, C... |
OMIM:214150 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap... |
ORPHA:3082 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Kyphoscoliosis, Joint hypermobility |
ORPHA:300179 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia... |
OMIM:225410 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, S... |
ORPHA:178148 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Retrognathia, Joint hypermobility, Thin ribs |
OMIM:300219 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contracture, Dental malocclusio... |
OMIM:619719 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form o... |
ORPHA:1149 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Joint stiffness, Del... |
ORPHA:2107 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Severe short stature, Carious t... |
OMIM:203550 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Arachnodactyly, Short stature, Hyperlordosis, Micrognathia, Pectus carinatum, Scoli... |
OMIM:300986 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... |
ORPHA:2021 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Short stature, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Short stature, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa... |
OMIM:133700 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Kyphoscoliosis |
OMIM:271200 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... |
ORPHA:2249 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Short ribs, Absent or minimally ossified ... |
OMIM:600972 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... |
ORPHA:794 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Short n... |
ORPHA:1865 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive |
OMIM:617585 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Pectus carinatum, Knee dislocation, Clin... |
OMIM:620083 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis,... |
ORPHA:61 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Obesity, Genu valgum, Scolio... |
OMIM:300602 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity,... |
ORPHA:98863 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Supernumerary ribs |
ORPHA:163961 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... |
OMIM:277600 |
Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... |
OMIM:603034 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, C... |
ORPHA:86812 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Postnat... |
OMIM:304050 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio... |
ORPHA:583 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Pectus excavatum, Retrognathia, Fused cervical vertebrae, Sprengel anomaly, Spina ... |
OMIM:619227 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Elbow flexion contracture... |
OMIM:277720 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Congenital hip dislocation, Limb joint contracture, Scoliosis, Failure to t... |
OMIM:255310 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to... |
OMIM:241500 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Short stature, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Ky... |
ORPHA:354 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... |
OMIM:619269 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Gait disturbance, Scoliosis, Tip-toe gait |
OMIM:160500 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Achilles tendon contracture, Pachygyria, Kyphoscoliosis |
ORPHA:370980 |
Fryns Syndrome |
|
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Single transverse... |
OMIM:229850 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Short stature, Pectus excava... |
ORPHA:96169 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short stature, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Ab... |
ORPHA:3218 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:229050 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Intraute... |
ORPHA:48431 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... |
OMIM:139210 |
Leukodystrophy, Hypomyelinating, 17 |
|
Death in infancy, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiff... |
ORPHA:98855 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Short stature, Kyphosis, Dental malocclusion, Hip dysplasia... |
ORPHA:1858 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Pectus excavatum, De... |
ORPHA:163654 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Genu valgum, Talipes equinovarus, Scoliosis, Pes cavus |
ORPHA:3115 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Abnormal thorax morph... |
ORPHA:2583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Hip dislocation, Scoliosis, Hyperlordosis |
OMIM:613156 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory... |
ORPHA:98853 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Failure to thrive... |
OMIM:617475 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis |
ORPHA:45452 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Small for gestational ag... |
OMIM:610443 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Abnormal cortical gyration, Kyphoscoliosis |
OMIM:607855 |
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 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ... |
ORPHA:356961 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Limitation of joint mobility, Short stature, Gait disturbance, Hyperlordosis |
ORPHA:1192 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexi... |
ORPHA:93274 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly |
ORPHA:1277 |
Chromosome 10Q26 Deletion Syndrome |
|
Small for gestational age, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal g... |
OMIM:609625 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... |
OMIM:224120 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Patellar hypoplasia, Hypox... |
ORPHA:2257 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Ataxia, Abnormal form of the vertebral bodies, Hand polydactyly, Gait ... |
ORPHA:475 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor... |
OMIM:208500 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Talipes equinovarus, Retrognathia |
ORPHA:169186 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Intrauter... |
ORPHA:254531 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Broad-based gait, Achilles tendon contract... |
ORPHA:353 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Short stature, Campto... |
ORPHA:568 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Small hand, Growth delay, Talipes equinovarus, Camptodactyly, Clinodactyly, Enamel... |
OMIM:619980 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1113 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis |
OMIM:612913 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Small hand, Pectus carinatum, Broad finger, Clinodactyly, Short phalanx of fing... |
OMIM:614684 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Abnormality of the hand, Micrognathia, Postnatal growth retardation, Short foot, Grow... |
ORPHA:576283 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Micrognathia, Abnormal rib morphology, Narrow chest, Failure... |
ORPHA:1703 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short stature, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis |
ORPHA:505652 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Talipes equinovarus, Kyphoscoliosis, Knee flexion contracture |
ORPHA:496689 |
Shox-Related Short Stature |
|
Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergro... |
ORPHA:314795 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Laron Syndrome |
|
Severe short stature, Delayed skeletal maturation, Abnormal joint morphology, Short long bone, Li... |
OMIM:262500 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... |
OMIM:252600 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Short stature, Single transverse pa... |
OMIM:613385 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... |
ORPHA:83468 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Radioulnar synost... |
ORPHA:293843 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis... |
ORPHA:1901 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... |
OMIM:619638 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Camptodac... |
OMIM:609128 |
Propionic Acidemia |
|
Short stature, Apnea, Tachypnea, Osteoporosis, Dehydration |
OMIM:606054 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Pectus excavat... |
OMIM:227330 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot |
OMIM:300977 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered f... |
OMIM:615547 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Narrow chest, Genu varum, Long toe, Short stature,... |
OMIM:264090 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Distal clavicular thinning, Micromelia, Bell-shaped thora... |
OMIM:600092 |
Brachydactyly, Type A1, B |
|
Short stature, Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short mi... |
OMIM:607004 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, G... |
ORPHA:53 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Growth ... |
ORPHA:157215 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... |
OMIM:610968 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Anemia, Limite... |
OMIM:616738 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Polyhydramnios, Missing ribs, Dyspnea, Hemivertebrae, Abnor... |
ORPHA:2759 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel... |
ORPHA:50945 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... |
ORPHA:2145 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Micromelia, Micrognathia, Absent thumb, Humeroradial synostosis, Ab... |
OMIM:251230 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... |
OMIM:209950 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse ... |
OMIM:210600 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Limited hip extension, Shoulder flexion contracture, Lumbar hyperlor... |
OMIM:617114 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Tachypnea, Apnea |
OMIM:617622 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
Zttk Syndrome |
|
Short stature, Craniosynostosis, Hypoplasia of the maxilla, Kyphosis, Flexion contracture, Rib fu... |
OMIM:617140 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia... |
ORPHA:251028 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility,... |
ORPHA:3101 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspira... |
OMIM:604320 |
Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Short stature, Coxa valga, Accelerated skeletal maturation, Flar... |
ORPHA:370930 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Obesity, Joi... |
OMIM:619185 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Decreased palmar creases, Small for gestational age, Micrognathia, Kyphosis, Scoli... |
OMIM:615834 |
Acute Interstitial Pneumonia |
|
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... |
ORPHA:79126 |
Congenital Myopathy 23 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:609285 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited sh... |
OMIM:203500 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Short stature, Pectus excavatu... |
OMIM:108145 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, ... |
OMIM:607944 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop... |
OMIM:616482 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Single tr... |
OMIM:618291 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, Postnatal growth reta... |
OMIM:248700 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Large for gestational age, Rib fusion, Clinodactyly o... |
ORPHA:544488 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo... |
ORPHA:2643 |
Ulnar Hypoplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Distal Deletion 17Q |
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Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Micromelia, Abnormal thu... |
ORPHA:1597 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Hyperlordosis, Pectus excavatum, Flexion contracture, Scapular muscle atrophy, Talipes equinovarus |
OMIM:611588 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Joint laxity, Waddling gait, Scapular winging, Lumbar hyperlordosis, Flexion contracture, Knee fl... |
ORPHA:353327 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Osteogenesis Imperfecta, Type Iv |
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Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce... |
OMIM:166220 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Joubert Syndrome With Oculorenal Defect |
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Apnea, Ataxia, Tachypnea, Hand polydactyly, Foot polydactyly, Scoliosis |
ORPHA:2318 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Pentasomy X |
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Short stature, Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostos... |
ORPHA:11 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
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Osteopenia, Mandibular prognathia, Single transverse palmar crease, Recurrent fractures, Postnata... |
ORPHA:2324 |
Osteoglosphonic Dysplasia |
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Abnormal clavicle morphology, Severe short stature, Rhizomelia, Failure to thrive in infancy, Cra... |
ORPHA:2645 |
Brachydactyly Type E |
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Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short me... |
ORPHA:93387 |
Alpha-Methylacetoacetic Aciduria |
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Dehydration |
OMIM:203750 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Back pain, Kyphoscoliosis, Cervical spondylosis, Arteriosclerosis, Localized osteoporosis, Lower ... |
ORPHA:199354 |
Orofaciodigital Syndrome Type 10 |
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Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Diamond-Blackfan Anemia 4 |
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Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Autoinflammation With Infantile Enterocolitis |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
Jansen-De Vries Syndrome |
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Short stature, Hyperlordosis, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
Charcot-Marie-Tooth Disease Type 1A |
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Calf muscle hypertrophy, Pes cavus, Kyphoscoliosis |
ORPHA:101081 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Short stature, Decreased palmar creases, Small for gestational age, Micrognathia, Kyphosis, Narro... |
ORPHA:352490 |
Arms, Malformation Of |
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Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stat... |
OMIM:608328 |
Parkinson-Dementia Syndrome |
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Kyphoscoliosis |
OMIM:260540 |
C Syndrome |
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Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... |
OMIM:211750 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Kyphoscoliosis |
OMIM:619099 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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Short stature, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Obesit... |
OMIM:618443 |
Myofibrillar Myopathy 10 |
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Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture... |
OMIM:619040 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Distal Deletion 10Q |
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Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl... |
ORPHA:96148 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300554 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Joint dislocation, Patellar hypoplasia, Short phalanx of finger, Genu varum, Short me... |
ORPHA:221016 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Cleidocranial Dysplasia 2 |
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Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... |
OMIM:620099 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Pes cavus, Kyphoscoliosis |
OMIM:605588 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Pneumonia, Hyperlordosis, Flexion contracture, Restrictive ventilatory defect, Scoliosis, Loss of... |
OMIM:253700 |
Geroderma Osteodysplastica |
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Beaking of vertebral bodies, Mandibular prognathia, Severe short stature, Recurrent fractures, Hi... |
ORPHA:2078 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Acrodysplasia Scoliosis |
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Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Ellis-Van Creveld Syndrome |
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Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Achondrogenesis |
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Severe short stature, Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Sho... |
ORPHA:932 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Mucopolysaccharidosis, Type Vii |
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Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Jackson-Weiss Syndrome |
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Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Orofaciodigital Syndrome Xviii |
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Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Delayed skelet... |
OMIM:617927 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
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Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Weight los... |
ORPHA:98850 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Ulnar deviation of the hand, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal wideni... |
OMIM:263210 |
Schimke Immunoosseous Dysplasia |
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Osteopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, ... |
OMIM:242900 |
Geroderma Osteodysplasticum |
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Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Pectu... |
OMIM:613458 |
Mosaic Trisomy 8 |
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Short stature, Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib ... |
ORPHA:96061 |
Cornelia De Lange Syndrome 2 |
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Short stature, Proximal placement of thumb, Limited elbow movement, Short neck, Micrognathia, Pos... |
OMIM:300590 |
Fountain Syndrome |
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Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta... |
ORPHA:3219 |
Tibial Hemimelia |
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Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Pontocerebellar Hypoplasia, Type 14 |
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Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
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Pectus excavatum, Radioulnar synostosis, Carious teeth |
ORPHA:3270 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Postnatal growth retardation, Short long... |
OMIM:619184 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Macrophage Activation Syndrome |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnorm... |
ORPHA:158061 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Micrognathia, Flexion contracture, Hypoplasia of teeth, Growth delay, Progressive clavicular acro... |
OMIM:608612 |
49,Xyyyy Syndrome |
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Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, G... |
ORPHA:99330 |
Chops Syndrome |
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Short stature, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
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Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation |
OMIM:615838 |
Chronic Hiccup |
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Dehydration |
ORPHA:396 |
Diarrhea 4, Malabsorptive, Congenital |
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Dehydration |
OMIM:610370 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
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Kyphoscoliosis |
OMIM:117850 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
Coxoauricular Syndrome |
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Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Joint laxity, Back pain, Toe syndactyly, Lumbar hyperlordosis, Short stature, Bilateral camptodac... |
OMIM:619234 |
Autosomal Recessive Omodysplasia |
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Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micromelia, Elbow... |
ORPHA:93329 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
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Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Erythroderma, Lethal Congenital |
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Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Renpenning Syndrome |
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Mandibular prognathia, Severe short stature, Cachexia, Joint stiffness, Pectus excavatum, Abnorma... |
ORPHA:3242 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short femur, Small for gestational age, Rhizomelia, Sandal gap, Patent ductus arte... |
OMIM:607143 |
Myopathy, Scapulohumeroperoneal |
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Scapular winging, Achilles tendon contracture, Scoliosis, Hyperlordosis |
OMIM:616852 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Foxg1 Syndrome |
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Kyphoscoliosis, Pachygyria, Scoliosis, Decreased body weight |
ORPHA:561854 |
Larsen-Like Syndrome |
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Joint laxity, Joint dislocation, Short stature, Kyphoscoliosis, Wide anterior fontanel, Delayed s... |
OMIM:608545 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Hammertoe, Pes cavus, Kyphoscoliosis |
OMIM:180800 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Delayed eruption of teeth, Sho... |
ORPHA:221008 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
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Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Sho... |
ORPHA:2994 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Lactase Deficiency, Congenital |
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Dehydration |
OMIM:223000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory failure, Neonatal... |
OMIM:265120 |
Fatco Syndrome |
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Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Charcot-Marie-Tooth Disease Type 4D |
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Kyphoscoliosis, Abnormal foot morphology, Split hand, Hammertoe, Skewfoot, Distal lower limb musc... |
ORPHA:99950 |
Transcobalamin Deficiency |
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Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Dihydropyrimidinase Deficiency |
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Growth delay, Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Autosomal Dominant Severe Congenital Neutropenia |
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Osteopenia, Lymphopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblast... |
ORPHA:486 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral head, Marked d... |
OMIM:610797 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... |
ORPHA:1327 |
Chromosome 16Q22 Deletion Syndrome |
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Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Small for gestational age... |
OMIM:614541 |
Terminal Osseous Dysplasia |
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Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Cerebrofaciothoracic Dysplasia |
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Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest... |
ORPHA:1394 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus |
OMIM:604563 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Central Core Disease |
|
Joint laxity, Pes planus, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis... |
ORPHA:597 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, K... |
ORPHA:2769 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Tachypnea, Ataxia, Respiratory distress |
ORPHA:79242 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Kyphoscoliosis |
OMIM:301107 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Accelerated skeletal maturation, Micrognathia, Multiple joint dislocation... |
OMIM:245600 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long... |
ORPHA:2840 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... |
OMIM:108300 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Short stature, Small for gestational age, Proximal placement of thumb, Abnormal thu... |
ORPHA:94065 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Sco... |
OMIM:248800 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot morphology, Hip d... |
OMIM:605274 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo... |
OMIM:301041 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Bilateral single transverse pal... |
ORPHA:353298 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Rocker bottom f... |
OMIM:610756 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, An... |
OMIM:275900 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus |
OMIM:118220 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Fa... |
OMIM:619542 |
Citrullinemia Type I |
|
Ankle clonus, Tachypnea, Ataxia |
ORPHA:247525 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... |
ORPHA:2115 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Tali... |
OMIM:300280 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Dehydration |
ORPHA:28 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... |
OMIM:614732 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Mandibular prognathia, Sandal gap, Short stature, Kyphosis, Small hand, Short foot,... |
OMIM:300354 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joi... |
ORPHA:2176 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Short stature, Aplasia/Hypoplasia of the patella,... |
OMIM:613803 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Upper limb amyotrophy, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617087 |
Leukodystrophy, Hypomyelinating, 3 |
|
Death in infancy, Joint contracture, Failure to thrive, Kyphoscoliosis |
OMIM:260600 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Failure to thrive |
ORPHA:319199 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures |
OMIM:304700 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... |
ORPHA:2774 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:79312 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Pectus carinatum, Prominent interphalangeal joints, Long thorax, Narrow ch... |
OMIM:618371 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
Larsen Syndrome |
|
Finger syndactyly, Short stature, Craniosynostosis, Large joint dislocations, Accessory carpal bo... |
ORPHA:503 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Failure to thrive, Craniosynostosis, Accelerated skeletal maturation, I... |
ORPHA:561 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Rec... |
OMIM:620249 |
Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis |
OMIM:604919 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Growth delay, Delayed puberty, Failu... |
OMIM:600462 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel... |
OMIM:130070 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Short stature, Single transverse pa... |
OMIM:616651 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo... |
OMIM:230000 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Short stature, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint h... |
ORPHA:2058 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... |
ORPHA:507 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly of finger, Co... |
ORPHA:261330 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Sclerosis ... |
OMIM:130720 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616069 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-o... |
OMIM:113500 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Acheiropody |
|
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... |
OMIM:200500 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Kyphoscoliosis, Abnormal toe morphology, Obesity, Distal lower limb muscle weakness, Pes cavus |
ORPHA:459033 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... |
ORPHA:3144 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Kyphoscoliosis |
OMIM:615541 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Micrognath... |
ORPHA:233 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Small hand,... |
ORPHA:96184 |
Joint Laxity, Short Stature, And Myopia |
|
Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Talipes equinovarus, Joint hypermo... |
OMIM:617662 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... |
OMIM:618476 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A... |
ORPHA:2928 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Talipes equi... |
OMIM:301066 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Felty Syndrome |
|
Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Neutropenia, Osteolysis, Synovitis,... |
ORPHA:47612 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Micrognathia, Femoral bowing, Sh... |
OMIM:617022 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... |
OMIM:230600 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Hypoplasia of t... |
ORPHA:96334 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture, Hyp... |
OMIM:160150 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... |
OMIM:206900 |
Marshall Syndrome |
|
Radial bowing, Short stature, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular... |
OMIM:154780 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Thin ribs |
ORPHA:169189 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Ab... |
ORPHA:500150 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... |
OMIM:617425 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral en... |
ORPHA:289176 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300009 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Short stature, Pectus excavatum, Delayed skeletal maturation, Tachypnea... |
OMIM:613658 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Short stature, Bowing of the legs |
OMIM:146350 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Elbow dislocation, Cario... |
ORPHA:10 |
Acrocraniofacial Dysostosis |
|
Short stature, Craniosynostosis, Tapered finger, Pectus excavatum, Coxa valga, Micrognathia, Abno... |
ORPHA:949 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel... |
OMIM:277590 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Advanced erup... |
ORPHA:192 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia o... |
ORPHA:444077 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur... |
ORPHA:1883 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... |
OMIM:615066 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Scoliosis, Abnormal posturing |
OMIM:128100 |
Harlequin Ichthyosis |
|
Limitation of joint mobility, Respiratory insufficiency, Dehydration, Hand polydactyly, Foot poly... |
ORPHA:457 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Multiple joint contractures, Broad hallux, Lumbar hyperlordosis, Singl... |
OMIM:305450 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Short neck, Micr... |
ORPHA:391408 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus |
OMIM:118200 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, ... |
ORPHA:1606 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Pes planus, Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Ulnar claw, Distal lower limb muscl... |
OMIM:145900 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Kyphosis, Split hand, Obesity, Scoliosis |
OMIM:618124 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Short stature, Short distal phalanx of... |
OMIM:302950 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... |
ORPHA:93317 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Pectus excavatum, Hypoplasia of the maxilla, Su... |
OMIM:211380 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Pectus excavatum, Abnormal 5th finge... |
ORPHA:1439 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Wormian bones... |
OMIM:265800 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Short stature |
OMIM:302905 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe synda... |
ORPHA:373 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Neutropenia, Weight loss,... |
ORPHA:47 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Dentinogenesis i... |
OMIM:616507 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Split hand, Scoliosis |
OMIM:614707 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis,... |
OMIM:162300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia |
ORPHA:289916 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Vertebral compression fracture |
ORPHA:85193 |
Shwachman-Diamond Syndrome 1 |
|
Short stature, Anterior rib cupping, Ovoid vertebral bodies, Small for gestational age, Metaphyse... |
OMIM:260400 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Failure to thrive, Short finger |
OMIM:242500 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave ... |
OMIM:236200 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... |
ORPHA:2215 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Bone pain, Rickets, Growth delay, Tooth abscess |
ORPHA:89937 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... |
OMIM:304150 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Ataxia, Respiratory insufficiency, Dehydration |
ORPHA:27 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Small hand, Obesity, Scoliosis, Pe... |
OMIM:300055 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Delayed skeletal maturation, Osteoporosis, Short long b... |
OMIM:602152 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Edema, Pedal edema |
OMIM:152800 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Obesity, Short phalanx of fi... |
OMIM:600430 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Transient Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Dehydration |
ORPHA:99886 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Scapular winging, Limited elbow movement, Spinal rigidity, Hyperlordosis, Inability to walk, Limi... |
ORPHA:268 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Stiff neck, Kyphoscoliosis |
OMIM:618230 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Short neck, Micrognathia, Kyphosis, Dental malocclusion... |
OMIM:616894 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Short neck, Dyspnea, Hypoplasia of the radius, Abnorm... |
ORPHA:3015 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Flex... |
ORPHA:75496 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... |
ORPHA:3265 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Obesity, Pectus carinat... |
ORPHA:171839 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne... |
OMIM:301078 |
Pallister-Hall Syndrome |
|
Large for gestational age, Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing... |
ORPHA:672 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Retrogn... |
ORPHA:488434 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Short neck, Short st... |
ORPHA:85293 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin... |
OMIM:126550 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Abno... |
OMIM:302960 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Allan-Herndon-Dudley Syndrome |
|
Pes planus, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis, Flexion cont... |
ORPHA:59 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... |
ORPHA:193 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses ... |
OMIM:615630 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir... |
ORPHA:289 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Thoracic hypoplasia, Micromelia, Micrognathia, Sh... |
OMIM:224410 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Punctate vertebral calcifications, Epiphyseal stippling, Intrauterine growth retardat... |
ORPHA:1914 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive |
OMIM:614688 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexi... |
ORPHA:1185 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Micrognathia, Carious teeth, Kyphosis, Reduced bone mineral density, Verteb... |
ORPHA:2617 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio... |
ORPHA:2479 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Micrognathia, Delayed skeletal maturation, Patellar aplasia, Birth length less tha... |
OMIM:613800 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, Pectus excavatum, Tip-toe gait |
ORPHA:171881 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Delayed cranial suture closure, Severe generalized osteopo... |
OMIM:210730 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation, Failure to thrive |
OMIM:618237 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hyperlordosis, Restrictive ventilatory defect, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Single transverse palmar crease, Small for gestational ... |
ORPHA:73272 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Delayed eruption of teet... |
ORPHA:2909 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped epiphysis, Arthritis, Shor... |
ORPHA:221139 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Acrootoocular Syndrome |
|
Short metacarpal, Small for gestational age, Abnormal finger flexion crease, Kyphoscoliosis, Micr... |
ORPHA:2980 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat... |
ORPHA:536532 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Neo... |
ORPHA:35173 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Rickets, Short stature, Bowing of the legs |
OMIM:615605 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... |
OMIM:300963 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Delayed skele... |
ORPHA:93 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Short stature, Hip dysplasia |
ORPHA:195 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Sagittal craniosynostosis, Pectus excavatum, Hip dysplasia, Cutaneous finger synda... |
OMIM:614378 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Ataxia, Polyhydramnios, Recurrent pneumonia, Flexion contractur... |
OMIM:616271 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Apnea, Episodic tachypnea, Ataxia, Central Y-sh... |
ORPHA:2754 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, De... |
OMIM:269500 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl... |
ORPHA:2020 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Areflexia of upper limbs, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebr... |
ORPHA:268882 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... |
ORPHA:2636 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ... |
ORPHA:1855 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis |
OMIM:300915 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e... |
ORPHA:221120 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ... |
OMIM:609008 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:616354 |
Facioscapulohumeral Dystrophy |
|
Palpebral edema, Hyperlordosis |
ORPHA:269 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Edema |
ORPHA:97330 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Kyphoscoliosis, Short neck, Micrognathia, Tapered finger, Elbow flexion c... |
OMIM:272430 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Micrognathia, Delayed skeletal maturation, Abnormal ri... |
ORPHA:52 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... |
OMIM:252500 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Severe short stature, Coxa valga, Metatarsus adductus, Avascular necrosis... |
ORPHA:2557 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Patent ductus arteriosus, Short toe, Obesity, Widely spaced toes, Aortic root ane... |
ORPHA:404443 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bon... |
OMIM:616300 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Sialidosis Type 2 |
|
Short stature, Kyphosis, Short thorax, Flexion contracture, Osteoporosis, Pectus carinatum |
ORPHA:87876 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a... |
OMIM:614846 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Mi... |
OMIM:617925 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Proportionate short stature, Wheezing, Dehydration, Cough |
ORPHA:171876 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96263 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j... |
ORPHA:93473 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinoda... |
ORPHA:447980 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna... |
OMIM:258315 |
Melnick-Needles Syndrome |
|
Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Immunodeficiency 43 |
|
Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... |
OMIM:241600 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Edema, Tachypnea, Dehydration, Cough |
ORPHA:134 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor... |
ORPHA:3206 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Dislocated radial head, Joint laxit... |
OMIM:102500 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Rickets, Dehydration |
OMIM:602722 |
Cystinosis |
|
Short stature, Rickets, Dehydration, Gait disturbance, Delayed puberty |
ORPHA:213 |
Rahman Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Camptodactyly, Accelerated skeletal maturation |
OMIM:617537 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Joint hypermobility, Kyphoscoliosis |
OMIM:616470 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Pes planus, Hallux valgus, Genu recurvatum, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:230851 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Short stature, Camptodactyly of ... |
ORPHA:3138 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death, Tracheo... |
OMIM:245650 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Failure to thrive, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, ... |
OMIM:618005 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Growth delay, Scoliosis... |
ORPHA:238750 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Impaired neutrop... |
OMIM:618986 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation defect, Pol... |
ORPHA:531151 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Down-sloping shoulders, Abnormal... |
ORPHA:96264 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Short stature, Micrognathia, Delayed skeletal maturation, Short middle phalanx ... |
OMIM:613823 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Bronchiectasis, Dehydration, Arthritis, Cough |
ORPHA:33110 |
Seckel Syndrome 8 |
|
Kyphoscoliosis, Micrognathia |
OMIM:615807 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... |
ORPHA:2062 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... |
ORPHA:95699 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Broad finger, ... |
OMIM:300845 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive |
OMIM:615387 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Micrognathia, Wormian bones, Clinodactyly, Brachydactyly |
OMIM:617808 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Arthritis, Coombs-positive hemolytic... |
OMIM:304790 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... |
OMIM:259770 |
Seckel Syndrome 7 |
|
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumba... |
OMIM:614851 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio... |
OMIM:608747 |
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 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, D... |
OMIM:613804 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Failure to thrive, Short stature, Wide anterior fontanel, Intrauterine gro... |
ORPHA:2963 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Failure to thrive, Short stature, Thoracolumbar kyphoscoliosis... |
OMIM:212066 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Pectus excavatum, Hyperlordosis, ... |
ORPHA:2789 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynost... |
ORPHA:2554 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Micrognathia, Joint stiffness, Short neck, Intrauterine growth retardation, Short distal phalanx ... |
ORPHA:2516 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... |
OMIM:246700 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Micromelia, Delayed skeletal maturation, Abnormality of the elb... |
ORPHA:2220 |
Tetanus |
|
Respiratory distress, Tachypnea, Stiff neck |
ORPHA:3299 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Abnormality of the vertebral column, Short stature, Sprengel anomaly |
OMIM:601076 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short stature, Shor... |
ORPHA:1830 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Abnormal morphology of ulna, Failure to thrive in infancy, Short neck, Pectus exca... |
ORPHA:1340 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplastic sacrum, Rhizomeli... |
OMIM:614813 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Mandibular prognathia, Arachnodactyly, Hyperlordosis, Large for gestational age, Ky... |
OMIM:617011 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Tapered finger |
OMIM:619255 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog... |
ORPHA:1120 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosi... |
OMIM:620351 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Dyspnea, Tachypnea, Narrow chest, Metaphyseal irregularity |
OMIM:239200 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Sacral dimple, Short stature, Single transverse palmar crease,... |
OMIM:619297 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol... |
OMIM:163200 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Elbow contracture, Small for gestational age, Postnatal growth retarda... |
OMIM:616489 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of... |
OMIM:616331 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar... |
OMIM:612394 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Short stature, Ataxia, Hyperlordosis, Inability to walk, Athetosis, Hip dysplasia,... |
OMIM:615356 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Kyphoscoliosis,... |
ORPHA:2834 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... |
ORPHA:391474 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Obesity, Hip dysplasia, Camptodactyly, Failure to thrive, Hemihypotrophy of lower... |
ORPHA:412035 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Postaxi... |
OMIM:614091 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stif... |
ORPHA:2588 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sin... |
OMIM:619951 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Delayed skeletal maturation, Disproportionate short stature, Coxa vara, Narrow pelvis... |
ORPHA:2637 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly |
OMIM:604273 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2-3 toe syndactyly... |
OMIM:618162 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis |
OMIM:616684 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Short stature, Abnormal morphology of ... |
ORPHA:84 |
Familial Cold Urticaria |
|
Arthritis, Dehydration |
ORPHA:47045 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Scoliosis, Loss of ambulation |
ORPHA:254854 |
Dystonia-Deafness Syndrome 1 |
|
Femoral retroversion, Small for gestational age, Kyphoscoliosis, Hypoplastic scapulae |
OMIM:607371 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Micrognathia, Pectus excavatum, Kyphosis, Wide anterior fontanel, Large for gestat... |
OMIM:618272 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Short stature, Pectus excavatum, Kyphosis, Carious teeth, Scoliosis, ... |
OMIM:617602 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Ulnar claw, Hammertoe, Kyphoscoliosis |
OMIM:214400 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Bone pain, Pectus carinatum, Decrea... |
ORPHA:955 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Thrombocytopenia, Neutropenia, Umbilical hernia, Failure to thrive, An... |
OMIM:614520 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Micrognathia, Abnormal rib morp... |
ORPHA:1834 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia... |
ORPHA:3253 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Patell... |
ORPHA:85201 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu... |
OMIM:251110 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat... |
OMIM:241800 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Short stature, Coxa valga, Joint stiffness, Short neck, Metaphyse... |
OMIM:607014 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
3C Syndrome |
|
Finger syndactyly, Short stature, Missing ribs, Short neck, Kyphosis, Micrognathia, Postnatal gro... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Joint contracture, Kyphoscoliosis |
OMIM:617664 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Falls, Difficulty walking |
ORPHA:3198 |
Loeys-Dietz Syndrome 6 |
|
Pes planus, Thoracic aortic aneurysm, Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoar... |
OMIM:619656 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Obesity, Deep ... |
ORPHA:254346 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Clinodactyly of the 5th finger... |
ORPHA:199 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Failure to thri... |
OMIM:251000 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Osteoporosis, Dehydration, Rickets |
OMIM:560000 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes ... |
OMIM:616603 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Obesi... |
ORPHA:319675 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis, Upper limb hypertonia, Pectus carinatum |
OMIM:614898 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Pectus excavatum, Kyphosis, Dental ... |
ORPHA:2471 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Bone pain, Rickets, Osteomalacia |
OMIM:193100 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Kyphoscoliosis, Split hand, Talipes equinovarus, Pes cavus |
OMIM:604168 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta... |
OMIM:278250 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis |
OMIM:612079 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Postn... |
ORPHA:254528 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ... |
ORPHA:51608 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363958 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... |
OMIM:210710 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Abnormal metatarsa... |
ORPHA:85408 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phala... |
ORPHA:3201 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont... |
ORPHA:314588 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Short stature, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... |
OMIM:613805 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx... |
OMIM:208060 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphoscoliosi... |
ORPHA:2962 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Advanced eruption of tee... |
OMIM:615873 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Failure to... |
OMIM:608104 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck |
ORPHA:1780 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, B... |
OMIM:300373 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, Contracture of th... |
OMIM:607015 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joi... |
OMIM:231050 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large ... |
ORPHA:457359 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S... |
OMIM:263750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Long palm, Recurrent fractures, K... |
OMIM:309583 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental... |
ORPHA:85199 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb,... |
ORPHA:435638 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dehydration |
OMIM:212140 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Tapered finger, Pectus excavatum, Unilateral radial aplasia, Partial abs... |
ORPHA:476126 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Pericardial effusion, Tachypnea |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Apnea, Edema, Tachypnea, Dehydration |
ORPHA:20 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Broad... |
OMIM:269860 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Pes cavus |
OMIM:601455 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Failure to thrive, Thromboc... |
OMIM:613989 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... |
OMIM:612731 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Macrocytic anemia, Osteomyelitis, Aplastic anemia, Transient neutr... |
ORPHA:811 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus, Small hand, ... |
ORPHA:300570 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Short stature, Dehydration, Growth delay, Difficulty walking, Ascites |
ORPHA:1667 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesi... |
OMIM:618493 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity, Kyphoscoliosis |
ORPHA:3077 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens... |
OMIM:252930 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Micrognat... |
ORPHA:96170 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Death in childhood, Neonatal death, Arthrogryposis multiplex congenita, Adducte... |
OMIM:619334 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... |
OMIM:619752 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi... |
ORPHA:2879 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Micrognathia, Dental malocclusion, Loc... |
ORPHA:73223 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, Postnatal growth r... |
OMIM:248370 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Talipes cav... |
OMIM:300966 |
Netherton Syndrome |
|
Asthma, Emphysema, Short stature, Dehydration |
ORPHA:634 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe... |
OMIM:615503 |
Episodic Ataxia Type 1 |
|
Hand clenching, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:261318 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Obesity, Scoliosis |
ORPHA:464282 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Short stature, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-... |
OMIM:614701 |
Prader-Willi Syndrome |
|
Osteopenia, Short palm, Syndactyly, Short stature, Acromicria, Osteoporosis, Obesity, Scoliosis, ... |
OMIM:176270 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Edema, Tachypnea, Arthritis, Septic ar... |
ORPHA:36234 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Pericardial effusion, Tachypnea, Hypoxemia, R... |
ORPHA:555874 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality ... |
ORPHA:1163 |
Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Exertional dyspnea,... |
ORPHA:99106 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis |
OMIM:609384 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu... |
OMIM:619143 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Death in infancy, Rocker bottom foot, Kyphoscoliosis, Short neck, Micrognathia,... |
OMIM:618947 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Sho... |
OMIM:259775 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Short stature, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognathia, Abnormal tibia morp... |
ORPHA:363700 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Pectus c... |
OMIM:300676 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Short neck, Micrognathia, Postnatal growth retardation, Limitation of... |
ORPHA:254519 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Palmar pits, Accelerated skele... |
ORPHA:77301 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Prominent metopic ridge, Short neck, Pectus e... |
ORPHA:488632 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Hypopl... |
ORPHA:245 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Camptodactyly of finger, Short neck, Micromelia, Elbow dislocation, Micrognat... |
ORPHA:99776 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Coxa valga, Delayed skeletal maturation, Hypoplastic vertebral b... |
ORPHA:2163 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... |
OMIM:616914 |
Cholera |
|
Dehydration, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation |
ORPHA:85173 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, F... |
ORPHA:2712 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... |
ORPHA:79255 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal p... |
ORPHA:1784 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Pectus excavatum, Kypho... |
ORPHA:3042 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Monosomy 18Q |
|
Pes planus, Arachnodactyly, Kyphoscoliosis, Tapered finger, Left aortic arch with right descendin... |
ORPHA:1600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea |
OMIM:201475 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... |
ORPHA:436003 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... |
ORPHA:828 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, 2-3 toe syndactyly, Scoliosis |
ORPHA:391307 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Inability to walk, Flexion contracture, Respiratory insufficiency... |
ORPHA:258 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tachypnea, Dehydration, Growth delay, Tip-toe gait, Abnormal pattern of respiration |
ORPHA:3008 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hydrops fetalis, Hyp... |
OMIM:230500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Clubbing of fingers, Areflexia of lower limbs, Scoliosis, Pes cavus |
OMIM:619574 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
3Mc Syndrome 1 |
|
Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide ... |
OMIM:257920 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets, Growth delay, Failure to thrive |
ORPHA:2088 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Patent ductus arteriosus, Talipes equinovarus, Ca... |
ORPHA:397709 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ... |
ORPHA:235 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Kyphoscoli... |
ORPHA:488642 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperlordosis, Spinal rigidity, Accelerated skeletal maturation, Flexion contracture,... |
OMIM:613327 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Cerebellofaciodental Syndrome |
|
Short stature, Single transverse palmar crease, Tapered finger, Short neck, Delayed skeletal matu... |
OMIM:616202 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Marden-Walker Syndrome |
|
Failure to thrive, Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness... |
ORPHA:2461 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Failure to thrive, Sandal gap, Camptodactyly of finger, Tapered finger, ... |
ORPHA:261349 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... |
OMIM:612199 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for gestational ag... |
OMIM:201750 |
Lamellar Ichthyosis |
|
Short stature, Dehydration |
ORPHA:313 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Dyspnea, Inability to walk, Cardiorespiratory arrest, Restrictiv... |
ORPHA:26791 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short stature, Joint s... |
OMIM:252940 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Mic... |
ORPHA:521426 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Pectus excavatum, ... |
OMIM:617061 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wrist movement... |
ORPHA:576 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to... |
OMIM:275350 |
Noonan Syndrome 14 |
|
Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Deep p... |
OMIM:619745 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... |
ORPHA:2710 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, C... |
OMIM:616145 |
Ethylene Glycol Poisoning |
|
Ataxia, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral edema... |
ORPHA:31826 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor... |
ORPHA:667 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... |
ORPHA:90362 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Flexion contracture, Ankle clonus, Clinodactyly of the 5th finger, ... |
OMIM:614222 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial hand polydactyly, Postaxial foot polydactyly... |
OMIM:608091 |
Double Outlet Right Ventricle |
|
Tachypnea, Short stature |
ORPHA:3426 |
Loeys-Dietz Syndrome 5 |
|
Pes planus, Failure to thrive in infancy, Arachnodactyly, Kyphoscoliosis, Osteoarthritis, Cervica... |
OMIM:615582 |
Monosomy 18P |
|
Brachydactyly, Micrognathia, Kyphoscoliosis, Short neck |
ORPHA:1598 |
Sanjad-Sakati Syndrome |
|
Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Postnatal ... |
ORPHA:2323 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Steppage gait, Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth |
OMIM:619142 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Calcaneovalgus deformity, Joint contracture ... |
OMIM:612513 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis... |
OMIM:309000 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hyperammonemia, Neutropenia |
OMIM:618253 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea, Joint stiffness |
OMIM:615934 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Microretrognathia, Severe short stature, Small for gestational age, Proxi... |
OMIM:615789 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx... |
OMIM:618348 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Dehydration |
OMIM:203400 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Short stature, Narrow chest |
ORPHA:1861 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Dehydration |
OMIM:610600 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly |
OMIM:616954 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Short stature, Increased intervertebral space, Broad isc... |
OMIM:619727 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu... |
OMIM:251100 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Long fi... |
OMIM:617527 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Biotinidase Deficiency |
|
Tachypnea, Apnea, Ataxia |
OMIM:253260 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the... |
OMIM:614900 |
Alg6-Cdg |
|
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Postaxial foot polyd... |
OMIM:258850 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Pectus excavatum, Slender long bone, Scoliosis, Joint hypermobility |
OMIM:618590 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Short stature, Apnea, Broad hallux, Short tibia, Tachypnea, Adactyly, Broad fi... |
ORPHA:2751 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Postnatal growth retardat... |
OMIM:265050 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Micrognathia, Pectus excavatum, Patellar aplasia, Abnormal sternum morph... |
ORPHA:96167 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, ... |
ORPHA:500055 |
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 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Osteoporosis, G... |
ORPHA:394 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion contracture, Osteoporosis, R... |
ORPHA:2671 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Obesity, Hip dysplasia, Cutaneous ... |
OMIM:616078 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... |
OMIM:618050 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Increased susceptibility to fractures |
ORPHA:216866 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal posturing, Weight loss |
ORPHA:157941 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
|
Short stature, Tracheomalacia, Micrognathia, Kyphosis, Posterior rib gap, Bell-shaped thorax, Cli... |
ORPHA:1393 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Pectus excavatum, Kyphosis, Cervical ribs, Micrognathia |
ORPHA:77300 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Impacted tooth, ... |
ORPHA:236 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, Wide anterior fontanel... |
ORPHA:3309 |
Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosino... |
ORPHA:443811 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Arthrogryposis multiplex congenita, Hip dysplasia, Dehydration, Oligohydramnios |
OMIM:208085 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Congenital hip dislocation, Delayed eruption of primary teeth, Microgna... |
OMIM:609029 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Single transverse palmar crease, Short neck, Micromelia, Sh... |
OMIM:614800 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Recurrent joint dislocation, Cervical kyphosis, Craniosynostosis, Kyphoscolios... |
ORPHA:2953 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Adducted thumb, Failure to thrive, Bilateral single tra... |
ORPHA:50810 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone... |
ORPHA:562 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpa... |
ORPHA:1295 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth, Short stature |
ORPHA:2760 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Delayed skel... |
OMIM:617809 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Sacral dimple, Rhizomelia, Short sta... |
ORPHA:319182 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Pectus excavatum, Kyphosis, Prominent crus of helix, Elbow flexion c... |
OMIM:619194 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive |
ORPHA:796 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Congenital kyphoscoliosis, Arachnodactyly, Ky... |
ORPHA:536545 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea |
ORPHA:860 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Abnormal cortical bone morphology |
ORPHA:2512 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... |
ORPHA:522077 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Bone pain, Kyphoscoliosis |
ORPHA:53721 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... |
ORPHA:37042 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Pectus carinatum, Talipes equinovarus, Scoliosis, Hand clenching, Fail... |
OMIM:617988 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytop... |
OMIM:617303 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Split hand,... |
OMIM:309900 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
Joubert Syndrome 1 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial hand polydactyly, Postaxial foot polydactyly... |
OMIM:213300 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive |
OMIM:302060 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:85317 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t... |
ORPHA:79322 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Hyperlordosis, Supernumerary tooth, Palmoplantar keratoderma, Scoliosi... |
ORPHA:3353 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Short stature, ... |
OMIM:303600 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Hip dislocation, Kyphoscoliosis |
ORPHA:101003 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosi... |
OMIM:218330 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Bone pain, Osteoporosis, Osteolysis, Small hand, Clu... |
ORPHA:2796 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Failure to thrive |
OMIM:608776 |
Nance-Horan Syndrome |
|
Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short... |
OMIM:302350 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Dehydration, Re... |
OMIM:619377 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Short stature, Micrognathia, Mesomelia, Camptodactyly, Prominent finger... |
OMIM:618529 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Short stature, Single transverse palmar crease, Proximal placement of ... |
OMIM:122470 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kypho... |
ORPHA:464738 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Cachexia, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... |
ORPHA:1969 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcar... |
ORPHA:79284 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Pos... |
ORPHA:1272 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Postnatal growth retardation, Coat hanger sign of ribs, Overgrowth, Thoracic hypo... |
ORPHA:254534 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Agenesis of maxill... |
ORPHA:2804 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphol... |
ORPHA:534 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Sacral dimple, Failure to thrive, Short stature, Hyperlordosis, Tapered fi... |
OMIM:619950 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Mandibular prognathia, Thickened ribs, Craniosynostosis, Joint stiffnes... |
ORPHA:309282 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Single transverse palmar crease, Flexion contracture, Limb undergrowth... |
ORPHA:79243 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Dehydration |
ORPHA:556030 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Delayed puberty, Scoliosis, Micrognathia |
ORPHA:2598 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... |
OMIM:192350 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrus... |
ORPHA:284984 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Br... |
ORPHA:404440 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Clinodactyly of the 5th finger, Pes cavus, Lumbar kyphoscoliosis, Death in childhood |
OMIM:619422 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture, Proximal muscle weakness in upper limbs |
OMIM:618138 |
Mgat2-Cdg |
|
Osteopenia, Pectus excavatum, Kyphosis, Scoliosis, Failure to thrive, Brachydactyly |
ORPHA:79329 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,... |
OMIM:619479 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Kyphoscoliosis |
ORPHA:98805 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Clinodactyly of the 5th finger, Kyphoscoliosis |
OMIM:620075 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Gray matter het... |
OMIM:603671 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Short stature, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Increased bod... |
ORPHA:398069 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Broad h... |
OMIM:614188 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma... |
ORPHA:881 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Sandal gap, Small for gestational age, Delayed skeletal ... |
OMIM:616835 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Narrow chest, Scoli... |
OMIM:182210 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Wide anterior ... |
ORPHA:798 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Craniosynostosis, Absent thumb, Micrognathia, Carious teet... |
ORPHA:96097 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Broad ribs, Abnormal s... |
ORPHA:2519 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Symphalangism of the 5th ... |
ORPHA:46627 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis |
ORPHA:324410 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplas... |
OMIM:612541 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Abnormal fingertip morphology, Micrognathia, ... |
ORPHA:90154 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Failure to thrive, Joint hyper... |
OMIM:615816 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Splenomegaly, ... |
OMIM:604173 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Kyph... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Kyph... |
ORPHA:590 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Slc39A8-Cdg |
|
Osteopenia, Short stature, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contract... |
ORPHA:468699 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap... |
OMIM:606170 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, Long fingers... |
ORPHA:79324 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Single tra... |
ORPHA:444072 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly... |
ORPHA:508542 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Thin clavi... |
OMIM:275210 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, B... |
ORPHA:2075 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Talipes equinovarus, Narrow chest, Scoliosis, Limb underg... |
OMIM:619124 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone, Bilateral ta... |
OMIM:306955 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... |
ORPHA:93325 |
Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:58 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Absent frontal sinuses, Kyphosis, Coxa valga, Hemivertebrae, Tali... |
OMIM:301040 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Flexion contracture, Limitation of joint mobi... |
ORPHA:90153 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Long fingers, Kyphosis... |
ORPHA:401973 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Mandibular prognathia, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short statu... |
ORPHA:3063 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Flexion contracture, Atypical ... |
ORPHA:89842 |
Arima Syndrome |
|
Ataxia, Dyspnea, Postaxial hand polydactyly, Tachypnea, Growth delay, Postaxial foot polydactyly |
OMIM:243910 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... |
OMIM:557000 |
Marfan Syndrome |
|
Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion contracture, Narrow foot, Arachnodactyl... |
OMIM:154700 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Failure to thrive, Micromelia, Micrognathia... |
ORPHA:35107 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Short 1st metacarpal, Fibular hypoplasia, Limited elbow flexion/exte... |
OMIM:164745 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets |
OMIM:613388 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Ane Syndrome |
|
Delayed skeletal maturation, Multiple joint contractures, Kyphoscoliosis, Ulnar deviation of the ... |
ORPHA:157954 |
Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni... |
ORPHA:90051 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Ina... |
ORPHA:505248 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... |
ORPHA:508488 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Micrognathia, Short thumb,... |
OMIM:268400 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Failure to thri... |
OMIM:619487 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Delayed skeletal maturation, Clinodactyly of the 5th finger, C... |
OMIM:620237 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Cellulitis |
OMIM:266265 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Pes planus, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial instability, Aorti... |
OMIM:614557 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Prominent metopic ridge, Dehydration |
ORPHA:79134 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Penoscrotal Transposition |
|
Micrognathia, Patellar aplasia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:2842 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Mi... |
ORPHA:558 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Neutropenia |
OMIM:616395 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Noonan Syndrome |
|
Short stature, Micrognathia, Pectus excavatum, Delayed skeletal maturation, Pectus carinatum, Enl... |
ORPHA:648 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial... |
ORPHA:261112 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Flexion contracture, Reticulocytopenia... |
OMIM:227645 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Dehydration |
OMIM:615453 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Coxa vara, Pectus carinatum, Abnormal form o... |
ORPHA:3107 |
Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Short foot, Scoliosis |
OMIM:312750 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Short stature, Small ... |
ORPHA:464306 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palm... |
ORPHA:2907 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Secondary Short Bowel Syndrome |
|
Growth delay, Dehydration |
ORPHA:95427 |
Pontocerebellar Hypoplasia, Type 10 |
|
Tapered finger, Simplified gyral pattern, Kyphoscoliosis, Short neck |
OMIM:615803 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Postnatal growth retardation, Preaxial hand polydactyly, Contractures of the large joints, C1-C2 ... |
ORPHA:96179 |
Fusariosis |
|
Brain abscess, Fasciitis, Osteomyelitis, Lung abscess, Abnormality of the spleen, Neutropenia, Ar... |
ORPHA:228119 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia |
OMIM:232220 |
Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Respiratory insufficiency due to muscle weakness, Bone pain, Rickets... |
ORPHA:18 |
Cockayne Syndrome B |
|
Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima... |
OMIM:133540 |
Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Dehydration |
ORPHA:69076 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Broad hallux, Kyphoscoliosis, Short neck, Micrognathia, Overlapping... |
ORPHA:96149 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Vertebral compression fracture, Wormian bones, Kyphoscoliosis |
OMIM:618644 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Dehydration, Choreoathetosis, Aspiration |
ORPHA:2131 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Pulmonary embolism, Hydrops fetalis, Dehydration, Growth delay, Pul... |
ORPHA:79282 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Short neck, Patellar aplasia, Patellar ... |
ORPHA:495818 |
Reni Syndrome |
|
Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Short stature, Genu recurvatum, Kyphosis, Scoliosis, Macrodo... |
ORPHA:364028 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased L... |
ORPHA:14 |
Adrenal Hypoplasia, Congenital |
|
Dehydration, Delayed puberty |
OMIM:300200 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Failure to thrive, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, ... |
OMIM:105650 |
Alg9-Cdg |
|
Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Short neck, ... |
ORPHA:79328 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Osteop... |
OMIM:612301 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
Trisomy 18 |
|
Microretrognathia, Short stature, Camptodactyly of finger, Cachexia, Postaxial hand polydactyly, ... |
ORPHA:3380 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... |
OMIM:212065 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Single transverse palmar crease, Scoliosis |
OMIM:300861 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short 5th met... |
OMIM:136140 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Short neck, Pectus excavat... |
OMIM:613610 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Abnormal cortical bone morphology, Delayed closure of the anterior font... |
OMIM:614886 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limita... |
ORPHA:217085 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Bone pain, Rickets, Rachitic rosary |
OMIM:612089 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... |
ORPHA:77259 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:702 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Hypertonic dehydration |
OMIM:304800 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limita... |
ORPHA:217093 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Congenital Tufting Enteropathy |
|
Arthritis, Dehydration |
ORPHA:92050 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Spondylolisthesis, Abdominal aortic aneurysm, Joint laxity, ... |
OMIM:613795 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Pectus excavatum, Kyphosis, Radial deviation of finger, Clinodactyly |
OMIM:609944 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Hyperammonemia, Neutropenia, Hyperalaninemia, Failure to thrive |
OMIM:615471 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Short stature, Micrognathia, Hip dysplasia, Scoliosis, Clinodac... |
OMIM:616975 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Kyphosis, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, Retro... |
OMIM:616449 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Pectus e... |
ORPHA:464311 |
3Mc Syndrome 3 |
|
Sacral dimple, Short stature, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinodac... |
OMIM:248340 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Progressive cerebellar ataxia, Tachypnea, Spastic gait |
ORPHA:415 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Short tho... |
ORPHA:93271 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... |
OMIM:219700 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Growth delay, Polyhydramnios, Dehydration |
OMIM:214700 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Hip dysplasia, Equinovarus deformity, Kyphoscoliosis |
ORPHA:466722 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Sialidosis Type 1 |
|
Short stature, Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal form of the vertebra... |
ORPHA:812 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Neonatal respiratory distress, Postnatal growth retardation, Dehydration, Intrauter... |
ORPHA:96191 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:308230 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Pes planus, Kyphoscoliosis, Abnormal foot morphology, Areflexia of lower limbs, Scoliosis, Distal... |
ORPHA:99956 |
Chime Syndrome |
|
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... |
ORPHA:3474 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of... |
OMIM:617088 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Hyperlordosis, Short th... |
OMIM:113620 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H... |
OMIM:164210 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Prominent metopic ridge, Ataxia, Dehydration, Lower-limb joint contracture, Intrauterine growth r... |
ORPHA:99885 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Cystinosis, Nephropathic |
|
Short stature, Failure to thrive in infancy, Metaphyseal widening, Delayed skeletal maturation, R... |
OMIM:219800 |
Sandifer Syndrome |
|
Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
Mevalonic Aciduria |
|
Failure to thrive, Failure to thrive in infancy, Kyphoscoliosis |
OMIM:610377 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, Scoliosi... |
ORPHA:90322 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Rhinitis, Dehydration |
ORPHA:230 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive... |
ORPHA:79396 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Flexion co... |
OMIM:601803 |
Alkaptonuria |
|
Joint dislocation, Coronary artery calcification, Joint stiffness, Cartilage destruction, Osteoar... |
ORPHA:56 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
Scorpion Envenomation |
|
Ataxia, Edema, Tachypnea, Abnormal nasal mucus secretion, Pulmonary edema |
ORPHA:466677 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Short neck,... |
OMIM:261540 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Edema, Dyspnea, Pneumothorax, Ost... |
ORPHA:79404 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Carious... |
OMIM:216400 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Tachypnea, Cough |
ORPHA:137675 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Gout, Increa... |
ORPHA:79259 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets, Short stature |
OMIM:611590 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the 5th finger... |
OMIM:135900 |
Charge Syndrome |
|
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Abnormal tibia morphology... |
ORPHA:138 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Aplasia/... |
ORPHA:1225 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Hip dislocation, Ascending tubular aorta aneurysm, Hip dysplasia, Talipes equinov... |
OMIM:617403 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
C Syndrome |
|
Joint dislocation, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Sho... |
ORPHA:1308 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Supernumerary tooth, Agenesis of molar, Osteoporosis, ... |
OMIM:619718 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Pes planus, Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Scol... |
OMIM:300967 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Overlapping fingers |
OMIM:619708 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest, Dehydration |
ORPHA:31824 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis |
ORPHA:99750 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Microme... |
ORPHA:1908 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Neutropenia |
OMIM:209920 |
Arthrogryposis And Ectodermal Dysplasia |
|
Arthrogryposis multiplex congenita, Joint contracture of the hand, Kyphoscoliosis, Camptodactyly |
OMIM:601701 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis |
ORPHA:261250 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Corneal scarring, Neutropenia, Joint contracture, Lymphopenia, Anemia |
OMIM:618460 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Lon... |
OMIM:300960 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Netherton Syndrome |
|
Hypernatremic dehydration, Allergic rhinitis, Asthma, Angioedema, Chronic rhinitis |
OMIM:256500 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal asphyxia, Dehydration |
ORPHA:90791 |
Leigh Syndrome |
|
Multiple joint contractures, Neutropenia, Hyperalaninemia, Failure to thrive, Anemia |
ORPHA:506 |
Micro Syndrome |
|
Short stature, Micrognathia, Joint stiffness, Kyphosis, Scoliosis, Delayed puberty, Intrauterine ... |
ORPHA:2510 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis |
ORPHA:370959 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe... |
ORPHA:573278 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed puberty,... |
OMIM:212750 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ... |
OMIM:605822 |
Cowden Syndrome |
|
Short stature, Pectus excavatum, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Failur... |
ORPHA:201 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:219080 |
Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab... |
ORPHA:636 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Osteoart... |
ORPHA:2298 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Abnormal palmar dermato... |
OMIM:309800 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Failure to thrive, Rectal abscess, Neutropenia |
OMIM:601495 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610475 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Posterior rib fusion, Neonatal death, Retrognathia, Butterfly vertebrae |
OMIM:265380 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea |
ORPHA:2299 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Fle... |
ORPHA:2908 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Syndactyly, Short metacarpal, Thoracolumbar scoliosis, Cerebral arteriovenous malform... |
OMIM:150230 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger... |
ORPHA:744 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, Decreased body weight, Intraute... |
OMIM:619005 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Enlarged joints, Small for gestational age, Brachydactyly, Ky... |
ORPHA:2044 |
Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Short stature, Failure to thrive in infancy, Kyphoscoliosis... |
OMIM:163950 |
Shigellosis |
|
Arthritis, Pneumonia, Dehydration |
ORPHA:810 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Microgn... |
OMIM:256520 |
Nephrogenic Diabetes Insipidus |
|
Growth delay, Hypernatremic dehydration, Short stature, Polyhydramnios |
ORPHA:223 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Failure to thrive, Severe short stature, Camptodactyly of f... |
ORPHA:2753 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, N... |
OMIM:242840 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Failure to thrive, Rickets |
ORPHA:79303 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Short neck, Micromelia, Preaxial polydactyly, Short rib... |
OMIM:616546 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Pectus carinatum |
ORPHA:500180 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab... |
ORPHA:3412 |
Congenital Myopathy 13 |
|
Kyphoscoliosis, Micrognathia, Flexion contracture, Bilateral talipes equinovarus, Scoliosis |
OMIM:255995 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Ataxia, Crackles, Hypocapnia |
ORPHA:466650 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Short hallux, Costal cartilage calcification, Premature... |
OMIM:245150 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Kyphoscoliosis, Absent Achilles reflex |
ORPHA:447760 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Hallux valgus, Pes planus, Kyphoscoliosis, Patent ductus arteriosus, Synostosis inv... |
ORPHA:466791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Tachypnea, Dysmetria, Truncal ataxia, Pulmonary edema |
OMIM:220111 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compres... |
OMIM:219090 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal ... |
ORPHA:963 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227646 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... |
ORPHA:186 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal ... |
ORPHA:314769 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia |
OMIM:300755 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Thrombocytopenia, Splenomegaly, Hypomag... |
ORPHA:699 |
Alstrom Syndrome |
|
Short stature, Abnormality of the hand, Accelerated skeletal maturation, Kyphosis, Truncal obesit... |
OMIM:203800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joint contracture of ... |
OMIM:235510 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Delayed skeletal maturation, Abnormal long bone morphology, Dehydration |
ORPHA:411634 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Widely patent fontanelles... |
ORPHA:3455 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Bone pain, Dehydration |
OMIM:259900 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Rickets, Dehydration |
ORPHA:411629 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed skeletal maturation, Osteoporosis, Dehydration, Reduced bone mineral density, Delayed pub... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed skeletal maturation, Osteoporosis, Dehydration, Reduced bone mineral density, Delayed pub... |
ORPHA:289548 |
Acrocephalopolydactylous Dysplasia |
|
Postaxial hand polydactyly, Micromelia, Craniosynostosis, Short neck |
OMIM:200995 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Parkes Weber Syndrome |
|
Back pain, Abnormal femoral metaphysis morphology, Hemihypertrophy of lower limb, Cerebral arteri... |
ORPHA:90307 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to ... |
ORPHA:525731 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh... |
ORPHA:171 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Pes planus, Overlapping toe, Kyphoscoliosis, Knee flexion contracture, Hip dysplasi... |
OMIM:617402 |
Neuroleptic Malignant Syndrome |
|
Dehydration, Aspiration pneumonia, Pulmonary embolism |
ORPHA:94093 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys... |
ORPHA:97685 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:610489 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia |
OMIM:617729 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, ... |
OMIM:236680 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela... |
OMIM:617247 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Postnatal growth retardation, Hip dislocation, Abnorma... |
ORPHA:90348 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina... |
OMIM:619055 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Short stature, Small for gestational age, Failure to thrive in infa... |
ORPHA:268261 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Tachypnea, Aplasia/hypoplasia involving bones of the extremities... |
ORPHA:3384 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Kyphoscoliosis, Micrognathia, Joint stiffness, Gray matter heterotopia, Polymicrogyria |
OMIM:618820 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Whim Syndrome |
|
Lymphopenia, Neutropenia, Abnormal neutrophil morphology, Cellulitis |
ORPHA:51636 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia, Weight loss |
ORPHA:537 |
Atelis Syndrome 2 |
|
Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Clinodactyly |
OMIM:620185 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
Leopard Syndrome 1 |
|
Kyphoscoliosis, Limited elbow movement, Short neck, Missing ribs, Cubitus valgus, Spina bifida oc... |
OMIM:151100 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Dehydration, Reduced bone mineral density, Grow... |
ORPHA:47159 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Short stature, Polyhydramnios, Dehydration, Chondrocalcinosis |
OMIM:601678 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia |
OMIM:618329 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb undergrowth, Intr... |
OMIM:616541 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis |
ORPHA:2396 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Failure to thrive, Butterfly vert... |
OMIM:118450 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Patent ductus arteriosus, Obesity, Patellar dislocation, Interrupt... |
OMIM:188400 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... |
OMIM:251300 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Weight los... |
ORPHA:50918 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Bone pain, Dehydration, Increased susceptibility to fractures, Growth delay, Hypoph... |
ORPHA:3337 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Growth delay, Scoliosis |
ORPHA:261144 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Ascites, Dehydration |
ORPHA:275761 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Microsporidiosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Dehydration, Rhinitis |
ORPHA:2552 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea |
OMIM:233450 |
Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Microretrogn... |
OMIM:270400 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati... |
ORPHA:857 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
Cowden Syndrome 5 |
|
Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis,... |
OMIM:615108 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Short stature, Polyhydramnios, Dehydration, Chondrocalcinosis |
OMIM:241200 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Accelerated skeletal maturation, Dehydration, Hypocapnia, Tall stature, Premature ... |
ORPHA:90794 |
Incontinentia Pigmenti |
|
Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
Cockayne Syndrome |
|
Severe short stature, Delayed eruption of primary teeth, Cachexia, Carious teeth, Kyphosis, Postn... |
ORPHA:191 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... |
ORPHA:2363 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hallux valgus, Failure to thrive in infancy, Down-sloping shoulders, Ky... |
OMIM:194050 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Short stature, Large for gestational age |
OMIM:616026 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormality of th... |
ORPHA:2273 |
Cowden Syndrome 6 |
|
Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis,... |
OMIM:615109 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Fanconi-Bickel Syndrome |
|
Postnatal growth retardation, Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Short neck, Deep palmar crease, Retr... |
ORPHA:1675 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Vipoma |
|
Respiratory insufficiency due to muscle weakness, Ascites, Dehydration |
ORPHA:97282 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Neutropenia |
OMIM:617799 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Hyperlipidemia, Cyclic neutropenia, Gout |
OMIM:232240 |
Zygomycosis |
|
Brain abscess, Fasciitis, Osteolysis, Neutropenia, Splenic abscess, Cellulitis |
ORPHA:73263 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... |
OMIM:214800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neutropenia in presence of anti-neutro... |
ORPHA:228426 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Aortic disse... |
OMIM:175050 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Bone pain, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Joint ... |
ORPHA:29207 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p... |
ORPHA:331235 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Kyphoscoliosis, Short neck, Micrognathia, Tapered finger, Delayed skeletal maturation... |
OMIM:309580 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Overlapping toe, Short stature, Small for gestational age, Broad palm, Lim... |
ORPHA:99843 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
15Q14 Microdeletion Syndrome |
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Kyphosis, Short stature, Scoliosis |
ORPHA:261190 |
Cowden Syndrome 1 |
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Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis,... |
OMIM:158350 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Joint laxity, Back pain, Failure to thrive, Osteomyelitis, Single transverse palmar crease, Overw... |
OMIM:619475 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Camptodac... |
ORPHA:500095 |
Multiple Endocrine Neoplasia Type 1 |
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Osteolysis, Dehydration, Increased susceptibility to fractures, Reduced bone mineral density, Pro... |
ORPHA:652 |
Dextrocardia |
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Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Viss Syndrome |
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Micrognathia, Generalized joint laxity, Pectus carinatum, Long toe, Joint laxity, Microretrognath... |
OMIM:619472 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Dehydration |
ORPHA:90038 |
Neurofibroma |
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Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
Unilateral Polymicrogyria |
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Abnormal posturing, Perisylvian polymicrogyria, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Short stature, Small for gestational age, Postnatal growth retardation, Long fingers, T... |
OMIM:613355 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Hand muscle atrophy, Kyphosis, Ankle clonus, Scoliosis |
OMIM:211530 |
Thauvin-Robinet-Faivre Syndrome |
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Inguinal hernia, Transient neutropenia, Large for gestational age |
OMIM:617107 |
Autosomal Recessive Ataxia, Beauce Type |
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Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Capillary Malformation-Arteriovenous Malformation |
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Cerebral arteriovenous malformation |
ORPHA:137667 |
Bartter Syndrome Type 4 |
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Polyhydramnios, Dehydration |
ORPHA:89938 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos... |
ORPHA:821 |
Pneumocystosis |
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Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Phace Syndrome |
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Aortic root aneurysm, Cerebral arteriovenous malformation, Coarctation of aorta |
ORPHA:42775 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Orofaciodigital Syndrome Type 1 |
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Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
Familial Mediterranean Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Menkes Disease |
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Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Fucosidosis |
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Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Abnormal sternum morphology, Scoliosis |
OMIM:177850 |
Peters Plus Syndrome |
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Sacral dimple, Toe syndactyly, Rhizomelia, Short stature, Micromelia, Short neck, Micrognathia, P... |
ORPHA:709 |
Aspartylglucosaminuria |
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Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, ... |
OMIM:208400 |
3-Methylglutaconic Aciduria, Type Viii |
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Failure to thrive, Neutropenia |
OMIM:617248 |
Ramon Syndrome |
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Delayed eruption of teeth, Short stature, Kyphosis, Scoliosis, Decreased body weight, Juvenile rh... |
OMIM:266270 |
Postencephalitic Parkinsonism |
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Kyphosis, Camptocormia |
ORPHA:97349 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Accelerated skeletal maturation |
OMIM:300942 |
Cockayne Syndrome Type 3 |
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Mild postnatal growth retardation, Carious teeth, Kyphosis, Flexion contracture, Scoliosis, Ename... |
ORPHA:90324 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis |
OMIM:619244 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating f... |
OMIM:619534 |
Juvenile Polyposis Syndrome |
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Pulmonary arteriovenous malformation, Clubbing of fingers, Failure to thrive, Cerebral arterioven... |
ORPHA:2929 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal rib morphology, Short stature |
ORPHA:991 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Kyphoscoliosis, Long fingers, ... |
ORPHA:79318 |
Ring Chromosome 7 Syndrome |
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Prominent crus of helix, Small hand, Genu valgum, Lumbar kyphoscoliosis, Short 5th finger, Clinod... |
ORPHA:1449 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Atypical scarring of skin, Anemia, Neutropenia |
ORPHA:95455 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation |
OMIM:610655 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha... |
OMIM:219000 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Pulmonary arteriovenous malformation, Clubbing, Miscarriage, Cerebral arteriovenous malformation |
OMIM:187300 |
Triosephosphate Isomerase Deficiency |
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Kyphosis, Failure to thrive |
OMIM:615512 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Pulmonary arteriovenous malformation, Clubbing, Cerebral arteriovenous malformation |
OMIM:600376 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Micrognathia |
OMIM:153400 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis |
ORPHA:171629 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Short stature, Accelerated skeletal maturation, ... |
ORPHA:64 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |