| Brachydactyly, Type A1, D |
|
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Disproport... |
OMIM:156530 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu valgum, Abnormal e... |
ORPHA:93351 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
| Acromesomelic Dysplasia 2A |
|
Stillbirth, Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplas... |
OMIM:200700 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhiz... |
OMIM:601560 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
| Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Increased upper to lower segment ratio, Upper limb... |
ORPHA:168549 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
| Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Rhizomelia, Short nose, Posterior rib cupping, Dumbbell-shaped long bone,... |
OMIM:228520 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:2639 |
| Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... |
ORPHA:2741 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... |
OMIM:615710 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... |
OMIM:215045 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate s... |
OMIM:269250 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... |
ORPHA:1836 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Short ribs, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Brach... |
OMIM:618961 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger |
OMIM:219070 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic sacrum, Osteoarthritis, Broad femoral neck, Upper l... |
OMIM:271650 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... |
OMIM:171480 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... |
OMIM:118651 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Microm... |
OMIM:200600 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
| Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Depressed nasal bridge, Con... |
OMIM:304120 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short... |
ORPHA:93296 |
| Thoracomelic Dysplasia |
|
Narrow chest, Disproportionate short-limb short stature, Short ribs, Bell-shaped thorax, Abnormal... |
ORPHA:1803 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Depresse... |
ORPHA:1842 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Rhizomelia, Short nose,... |
OMIM:108720 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... |
ORPHA:2496 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... |
OMIM:600121 |
| Acromesomelic Dysplasia 2C |
|
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Three M Syndrome 1 |
|
Pectus excavatum, Depressed nasal bridge, Hypoplastic pelvis, Mandibular prognathia, Delayed skel... |
OMIM:273750 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, Osteopenia, Micrognathia, Short humerus, Depressed nasal bridge, Rhizomelia,... |
OMIM:222765 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ab... |
OMIM:164900 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short stature, Short hu... |
ORPHA:2019 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Microgn... |
OMIM:201170 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Severe short stature, Hyperextensibili... |
OMIM:313420 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Distal sym... |
ORPHA:93388 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... |
OMIM:187601 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Intestinal malrotation, Arthrogryposis multiplex co... |
OMIM:243180 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... |
ORPHA:1972 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Cleidocranial Dysplasia |
|
Depressed nasal bridge, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Cariou... |
ORPHA:1452 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Pos... |
OMIM:617405 |
| Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Depressed nasal bridge, Short humerus, Rhizomelic a... |
OMIM:164745 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Hypoplastic ilia, ... |
OMIM:600972 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiffness, Generalized joint laxity,... |
OMIM:132400 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Lar... |
ORPHA:1801 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... |
OMIM:602557 |
| Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine... |
ORPHA:1505 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
| Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology |
OMIM:142623 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Narrow nose, Pe... |
OMIM:249600 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Symphalan... |
OMIM:186500 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Talipes equinovarus, Flexion contracture, Short stature, Malar flattening... |
OMIM:602471 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Acrodysostosis |
|
Accelerated skeletal maturation, Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal... |
ORPHA:950 |
| Eiken Syndrome |
|
Broad ribs, Multiple unerupted teeth, Long hallux, Eruption failure, Type A1 brachydactyly, Flatt... |
OMIM:600002 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon |
OMIM:235760 |
| Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of ... |
OMIM:311300 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal ... |
ORPHA:3268 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi... |
OMIM:151210 |
| Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Short ribs, Short stature, Depressed nasal bridge, Camptoda... |
ORPHA:2021 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Disproportionate short-limb short stature, Metaphys... |
ORPHA:85166 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... |
OMIM:619598 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal death, Hypoplasi... |
OMIM:227270 |
| X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, ... |
OMIM:206920 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Depressed nasal br... |
OMIM:215140 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Shortening of all proxim... |
OMIM:271700 |
| Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Prominent sternum, Barrel-shape... |
OMIM:607326 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Severe short stature, Hypoplasia of the radius, Delayed cranial suture closure, ... |
ORPHA:2249 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
| Achondrogenesis, Type Ii |
|
Disproportionate short-limb short stature, Short ribs, Barrel-shaped chest, Short tubular bones o... |
OMIM:200610 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Depressed nasal bridge, Micromelia, C1-C2 subluxation, Short nos... |
OMIM:271665 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Short ribs, Short stature, Depressed nasal bridge, Iliac crest... |
OMIM:613320 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short nose, Intrauterine growth retardation, Thoracic hypoplasia, Flexion contracture... |
OMIM:616897 |
| Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Narrow foot, Tapered ... |
OMIM:600920 |
| Seckel Syndrome 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Single transverse palmar cr... |
OMIM:210600 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Long foot,... |
OMIM:305620 |
| Ruvalcaba Syndrome |
|
Narrow chest, Clinodactyly of the 5th finger, Convex nasal ridge, Small hand, Cone-shaped epiphys... |
ORPHA:3121 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Thin ribs, Short stature, Sho... |
OMIM:618395 |
| 3M Syndrome |
|
Bulbous nose, Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Hypoplasia of th... |
ORPHA:2616 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... |
ORPHA:93333 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... |
OMIM:187600 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s... |
ORPHA:2470 |
| Brachydactyly Type A4 |
|
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... |
ORPHA:93394 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge,... |
OMIM:119600 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Neonatal short... |
OMIM:224400 |
| Prieto Syndrome |
|
Talipes equinovarus, Coxa valga, Retrognathia, 11 pairs of ribs, Osteoporosis, Patellar subluxati... |
OMIM:309610 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Convex nasal ridge, Finger syndactyly, Malar flattening, Hypop... |
ORPHA:3258 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Intrauterine growth retardation, Talipes equino... |
ORPHA:1788 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb |
ORPHA:1471 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Mic... |
ORPHA:440354 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbell-shaped fem... |
ORPHA:56304 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Rhizomelia, Short ... |
OMIM:166250 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
| Otofacioosseous-Gonadal Syndrome |
|
Narrow chest, Carpal synostosis, Pectus excavatum, Talipes equinovarus, Malar flattening, Short s... |
OMIM:601976 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Depressed nasal ridge, Femoral b... |
OMIM:114290 |
| Langer Mesomelic Dysplasia |
|
Disproportionate short-limb short stature, Severe short stature, Abnormal morphology of ulna, Apl... |
ORPHA:2632 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... |
ORPHA:210122 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Malar flattening, Bilateral talipes equinovarus, Short stature, Brachydactyly, Postaxial oligodac... |
OMIM:608571 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Split hand, Short stature, Short humerus, Micromelia, Postaxial h... |
ORPHA:2491 |
| Cousin Syndrome |
|
Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger, Talipes equin... |
OMIM:260660 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Depressed nasal bridge, Distal uln... |
OMIM:277150 |
| Mietens Syndrome |
|
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Severe s... |
ORPHA:2557 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... |
OMIM:609441 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Short stature, Reduced arm span, Osteoarthritis, Abnormality... |
ORPHA:166002 |
| Autosomal Dominant Omodysplasia |
|
Malar flattening, Short 1st metacarpal, Micrognathia, Short humerus, Depressed nasal bridge, Rhiz... |
ORPHA:93328 |
| Dysosteosclerosis |
|
Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Broad ribs, Delayed clo... |
OMIM:224300 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Stillbirth, Metaphyseal cupping, Widely patent fontanelles and sutures, Dispr... |
OMIM:241500 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Hypoplasia of the radius, Depressed nasal bridge, Hypoplasia of the ulna, Hypoplastic pelv... |
OMIM:602613 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Disproport... |
OMIM:609052 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Flat glenoid fossa, Genu valgum, Irregular iliac crest, Short long bone, Metaphyse... |
OMIM:250420 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow chest, Bowing of the legs, Limitation of joint mobility, Talipes equinovarus, Severe short... |
ORPHA:1865 |
| Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Talipes equinovarus, Convex nasal ridge, Craniosynostosis, Abn... |
OMIM:251230 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose,... |
OMIM:609945 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Carpal synostosis, Underdeveloped nasal alae, Aplasia/Hypoplasia of the middle phalanges of the h... |
OMIM:186400 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Malar flattening, Short ribs, Hypoplastic ilia, Metaphyseal widening, Microg... |
OMIM:614524 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Short stature, Aplasia/Hyp... |
ORPHA:52056 |
| Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Depressed nasal bridge, Rhizomelia, Abnormal epiphysis morpholog... |
ORPHA:50945 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Short stature, Ankle clonus, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Jo... |
OMIM:600561 |
| Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... |
OMIM:617895 |
| Kyphomelic Dysplasia |
|
Femoral bowing, Depressed nasal bridge, Micromelia, Pterygium, Dumbbell-shaped humerus, Thoracic ... |
OMIM:211350 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon |
OMIM:304100 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... |
ORPHA:85170 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Femoral bowing, Ulnar deviation of finger, Single transverse palmar creas... |
OMIM:601559 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... |
OMIM:142900 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, De... |
ORPHA:2256 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
| Craniodiaphyseal Dysplasia |
|
Short stature, Depressed nasal bridge, Wide nasal bridge, Abnormal rib morphology, Diaphyseal thi... |
ORPHA:1513 |
| Hypochondroplasia |
|
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Malar flattening... |
OMIM:146000 |
| Muenke Syndrome |
|
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flattening, Thimbl... |
OMIM:602849 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Recurrent fractures, Tibial bowing, Delayed epiphyseal ossification, Bo... |
OMIM:600081 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Abnormally ossified vertebr... |
ORPHA:1512 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal bridge, Micromelia, Symphalangism affecting the pha... |
ORPHA:628 |
| Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Joint contracture of the hand, Camptodactyly of finger, Brachydactyly, Wide na... |
OMIM:148820 |
| Seckel Syndrome 4 |
|
Short stature, Retrognathia, 11 pairs of ribs, Steep acetabular roof, Intrauterine growth retarda... |
OMIM:613676 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po... |
OMIM:613091 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxi... |
OMIM:617925 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, A... |
ORPHA:2878 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Micrognathia, Depressed nasal bridge, Micromelia, Postaxial hand polydactyly, Short n... |
OMIM:241800 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
| Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Short nose, Bowing of the long bones, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Genu valgum, Hip subluxation,... |
OMIM:271640 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Mueller-Weiss Syndrome |
|
Avascular necrosis, Joint stiffness, Talipes calcaneovarus, Edema of the dorsum of feet, Sclerosi... |
ORPHA:566943 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislo... |
OMIM:618291 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Postaxial polydactyly, Short ribs, Short stature, M... |
OMIM:614091 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Abnormality of the upper limb, Sandal gap, Hypoplasia of the maxilla, Bow... |
ORPHA:1106 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Broad nasal tip, Pectus carinatum, Disproportionate short-trunk short stature, Short nose, Block ... |
OMIM:272460 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Severe short stature, Short... |
OMIM:156400 |
| Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Accelerated skeletal maturation, Micrognathia, Micromelia, Li... |
ORPHA:1423 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon |
OMIM:619465 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, T... |
ORPHA:2347 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Malar flattening, Microgna... |
OMIM:256050 |
| Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Osteopenia, Femoral bowing |
OMIM:618188 |
| Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Disproportionate short-limb short stature, Neonatal short-limb short stat... |
OMIM:191400 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Depre... |
ORPHA:166272 |
| Orofaciodigital Syndrome Viii |
|
Short stature, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Recurrent aspiration pneumo... |
OMIM:300484 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Abnormal thorax morphol... |
OMIM:605274 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Reduced bone mineral density, Sh... |
ORPHA:2370 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Pectus carinatum, Disp... |
OMIM:271530 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... |
ORPHA:957 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Disproportionate short-limb short stature, Hypoplastic vertebral bodies, Accelerate... |
ORPHA:3144 |
| Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... |
ORPHA:2097 |
| Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Abnormal clavicle morphology, Thin ribs, Split foot, Hypoplasia of the radius, ... |
ORPHA:958 |
| Hirschsprung Disease |
|
Intestinal obstruction, Functional abnormality of the gastrointestinal tract, Intestinal polyposi... |
ORPHA:388 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Talon cusp, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Ta... |
OMIM:605282 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, 11 pairs of ribs, Rhi... |
OMIM:250220 |
| Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Chol... |
ORPHA:95427 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Joint stiffness, Coxa vara, Delayed epiphyseal ossification, Limitation of joint mobility, Finger... |
ORPHA:93308 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
| Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Symphalangism, Proximal, 1A |
|
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the toes, Proximal symphalangism... |
OMIM:185800 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eru... |
OMIM:184260 |
| Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Severe shor... |
ORPHA:2635 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... |
ORPHA:3248 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic ... |
OMIM:308050 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... |
OMIM:156230 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Otoonychoperoneal Syndrome |
|
Hip contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Ankle flexion contra... |
OMIM:259780 |
| Feingold Syndrome |
|
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia |
ORPHA:1305 |
| Muenke Syndrome |
|
Carpal synostosis, Malar flattening, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot,... |
ORPHA:53271 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Enlarged joints, Bowing of the legs, Disproportionate short-limb short stature, Pectus excavatum,... |
ORPHA:156728 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathia, Micrognathia, Neonat... |
OMIM:611890 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Absent glenoid fossa, Birth length less than 3rd percentile, Pectus carinat... |
OMIM:224690 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... |
OMIM:617866 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Short nose, Twelfth rib hypoplasia, D... |
OMIM:211910 |
| Omodysplasia 1 |
|
Depressed nasal bridge, Rhizomelia, Short nose, Anterolateral radial head dislocation, Disproport... |
OMIM:258315 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Pectus excavatum, Broad ribs, Delayed closure of the anterior fontanelle, Clinodactyly of ... |
OMIM:300373 |
| 17Q21.31 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Short nose, Sandal gap, Delayed p... |
ORPHA:217340 |
| Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Cubitus valgus, Clinodactyly, Short foot |
OMIM:300577 |
| Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... |
OMIM:616809 |
| Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Lateral clavicle hook, Short ribs, Short stat... |
OMIM:615630 |
| Banki Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... |
ORPHA:1228 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short stature, Short humerus, Short femoral neck, Rhizomelia, Broad ... |
OMIM:610319 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... |
OMIM:127200 |
| Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh... |
OMIM:225500 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
| Kinsship Syndrome |
|
Dislocated radial head, Bulbous nose, Supernumerary ribs, Respiratory arrest, Low hanging columel... |
OMIM:619297 |
| Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... |
ORPHA:1350 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sac... |
OMIM:304950 |
| Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Short... |
ORPHA:93329 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Micrognathia, Hypoplasia of the ulna, Wide nose, Thick nasal alae, Clinodactyly |
ORPHA:357175 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Short stature, Barrel-sh... |
OMIM:178110 |
| Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Thoracic hypoplasia, Short long bone, Nar... |
ORPHA:15 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Elbow ankylosis, Disproportionate tall stature, Craniosynostosis, Femoral bowing, D... |
ORPHA:95699 |
| Diastrophic Dysplasia |
|
Hip contracture, Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Talip... |
OMIM:222600 |
| Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Severe short stature, Micrognathia, Micromelia, Abnormal rib m... |
ORPHA:93298 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Depressed nasal bridge, Single transverse palmar crease, ... |
OMIM:113470 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology,... |
OMIM:602196 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... |
OMIM:264700 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... |
OMIM:135100 |
| Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Malar flattening, Short... |
OMIM:601561 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Depressed nasal bridge, ... |
OMIM:122860 |
| Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... |
OMIM:194350 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Short stature, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Sho... |
OMIM:614078 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... |
ORPHA:63442 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Joint stiffness, Severe short... |
ORPHA:969 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Delayed eruption of teeth, ... |
OMIM:309350 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Duplicati... |
OMIM:268310 |
| Meier-Gorlin Syndrome 3 |
|
Birth length less than 3rd percentile, Hypoplasia of the maxilla, Delayed skeletal maturation, In... |
OMIM:613803 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Micrognathia, Hypoplasia of the ulna, Wide nose, Thick nasal alae, Clinodactyly |
OMIM:615162 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Accelerated skeletal m... |
OMIM:618363 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Carious teeth, Bulging of the costoc... |
OMIM:277440 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Micrognathia, Mi... |
ORPHA:93299 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
| Mucolipidosis Ii Alpha/Beta |
|
Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped phalanges o... |
OMIM:252500 |
| Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Pes c... |
OMIM:311450 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Osteoarth... |
OMIM:618618 |
| Cooper-Jabs Syndrome |
|
Malar flattening, Reduced bone mineral density, Abnormal hip bone morphology, Short stature, Camp... |
ORPHA:1488 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclero... |
ORPHA:2790 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short ribs, Short humeru... |
OMIM:607143 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Short stature, Synostosis of carpal bones, Abnormality of fibula... |
ORPHA:988 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Tall stature, Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, T... |
OMIM:113450 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Synostosis of carpal bones, Symphalangism affectin... |
ORPHA:710 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proximal placeme... |
OMIM:613458 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... |
OMIM:173800 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials |
OMIM:600501 |
| Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
| Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap... |
ORPHA:474 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Recurrent fractures, Tibial bowing, Hypophosphatemic rickets, Delayed e... |
OMIM:241530 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, Hypo... |
OMIM:143095 |
| Cranioectodermal Dysplasia 1 |
|
Pectus excavatum, Single transverse palmar crease, Sagittal craniosynostosis, Rhizomelia, Short d... |
OMIM:218330 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... |
OMIM:250230 |
| Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Short stature, Abnormal ulnar metaphysis morphology... |
ORPHA:1040 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
| Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hand clenching, Thoracic hypoplasia, Patellar dislocation, Elbow disl... |
ORPHA:56305 |
| Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Micrognathia, Respiratory insufficiency, Bilateral single transverse palmar crease... |
ORPHA:3191 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar crease, Delayed... |
OMIM:210710 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Baller-Gerold Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Carpal synostosis, R... |
OMIM:218600 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Narrow chest, Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fo... |
ORPHA:163649 |
| Parana Hard Skin Syndrome |
|
Short stature, Respiratory insufficiency, Tapered finger, Pectus carinatum, Growth delay, Restric... |
ORPHA:2812 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t... |
OMIM:187760 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... |
ORPHA:3269 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morpho... |
ORPHA:1277 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Clinodactyly of the 5th finger, Severe short ... |
ORPHA:1005 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Short stature, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the u... |
OMIM:614900 |
| Waardenburg Syndrome Type 3 |
|
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... |
ORPHA:896 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, Short sternum, Talipes equinovarus, Short metacarpal, ... |
OMIM:266910 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Beaded ribs, Disproportionate short-limb short stature, Conve... |
OMIM:166210 |
| Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Short stature, Hypoplastic ilia, Congenital hip ... |
OMIM:169550 |
| Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Short long bone, Short ribs, Bowing of the arm, Hypoplastic scap... |
OMIM:269860 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Depressed nasal bridge, Rhizome... |
ORPHA:397715 |
| Codas Syndrome |
|
Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxity, Short stat... |
OMIM:600373 |
| Weaver Syndrome |
|
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Depressed nas... |
OMIM:277590 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short long bone, Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short n... |
ORPHA:221054 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Aganglionic megacolon, Cryptorchidism |
ORPHA:452 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Short stature, Osteopenia, Barrel-shaped che... |
OMIM:239000 |
| Roberts Syndrome |
|
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... |
ORPHA:3103 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga |
OMIM:132450 |
| Opsismodysplasia |
|
Narrow chest, Joint stiffness, Hypoplastic vertebral bodies, Pectus excavatum, Severe short statu... |
ORPHA:2746 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon |
ORPHA:897 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microg... |
ORPHA:1832 |
| Greenberg Dysplasia |
|
Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci... |
ORPHA:1426 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short... |
OMIM:611263 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Lateral clavicle hook, Postaxial polydactyly, Preaxial polydactyl... |
OMIM:615503 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Contrac... |
OMIM:613870 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anomaly, Short ribs... |
ORPHA:2911 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Pectoralis hypoplasia... |
OMIM:607323 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Femoral retroversion, Micromelia, Death in early adulthood, Hypoplastic scapulae |
ORPHA:79107 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Abnormal rib morphology, Rhizomelia, Ab... |
ORPHA:93267 |
| L1 Syndrome |
|
Skeletal muscle atrophy, Aganglionic megacolon |
ORPHA:275543 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
| Pelvis-Shoulder Dysplasia |
|
Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Mi... |
ORPHA:2839 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Joint stiffness, Abnormal hip bone morphology, Short stature, Micrognathia, Camptodactyly of fing... |
ORPHA:1323 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Coxa vara, Narrow chest, Pectus excavatum, Abnormal femoral nec... |
ORPHA:63446 |
| Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... |
OMIM:245190 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
| Multiple Osteochondromas |
|
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... |
ORPHA:321 |
| Ivic Syndrome |
|
Joint stiffness, Severe short stature, Hypoplasia of the radius, Preaxial hand polydactyly, Synos... |
ORPHA:2307 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Absent or mini... |
ORPHA:66637 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Pectus excavatum, Osteopenia, Ankle clonus, Depressed nasal bridge, Osteoporosis, Hypoplasia of t... |
OMIM:615398 |
| Cardiospondylocarpofacial Syndrome |
|
Severe short stature, Failure of eruption of permanent teeth, Brachydactyly, Synostosis of carpal... |
ORPHA:3238 |
| W Syndrome |
|
Radial bowing, Broad nasal tip, Pes cavus, Depressed nasal bridge, Camptodactyly, Hypoplasia of t... |
ORPHA:2804 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Narrow chest, Disproportionate short-limb short stature, Short long bone, Flexion contracture, De... |
OMIM:619479 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Short ribs, Respiratory insufficiency, Elbow flexion contr... |
ORPHA:1145 |
| Brachydactyly Type E |
|
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... |
ORPHA:93387 |
| Distal Trisomy 5Q |
|
Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Short stature, Brachydact... |
ORPHA:96097 |
| Acrorenal-Mandibular Syndrome |
|
Narrow chest, Thin ribs, Split foot, Hypoplasia of the radius, Hand polydactyly, Micrognathia, Ru... |
OMIM:200980 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... |
OMIM:617604 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
| Apert Syndrome |
|
Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Delayed eruption of teeth, Rhizom... |
OMIM:101200 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Retrognathia, Micrognathia, Camptodactyly of finger... |
OMIM:249710 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Pseudoarthrosis, Missing ribs, Short ribs |
OMIM:618155 |
| Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Hypoplasia of the radius, De... |
ORPHA:3404 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
| Occipital Horn Syndrome |
|
Narrow chest, Short clavicles, Pectus excavatum, Coxa valga, Convex nasal ridge, Short humerus, O... |
OMIM:304150 |
| Slc35A2-Cdg |
|
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Short stature, Osteopenia... |
ORPHA:356961 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Craniosynostosis, Short stature, Micrognathia, Brachydactyl... |
ORPHA:2145 |
| Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Short statur... |
ORPHA:93430 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Short stat... |
OMIM:608154 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Depressed nasal bridge, Brachydactyly, Acromesomelia, Bowing o... |
ORPHA:40 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Slender finger, Flexion contracture, Increased laxity of fingers, Adducted thumb, Micrognathia, H... |
ORPHA:75840 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Sh... |
ORPHA:1988 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo... |
ORPHA:289157 |
| Ruvalcaba Syndrome |
|
Narrow chest, Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow exten... |
OMIM:180870 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Hypoplastic facial bones, Microretrognathia, Postaxial polydactyly, Preaxial polyda... |
OMIM:616300 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... |
OMIM:208081 |
| Boomerang Dysplasia |
|
Severe short stature, Hypoplastic iliac body, Hypoplastic nasal septum, Wide nasal bridge, Neonat... |
OMIM:112310 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Avascular necrosis of the ... |
OMIM:190351 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Radioulnar synostosis, Ham... |
ORPHA:2319 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Short stature, Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
| Pyknoachondrogenesis |
|
Sclerosis of skull base, Enlarged thorax, Abnormal iliac wing morphology, Depressed nasal ridge, ... |
ORPHA:3003 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Interphalangeal joint contra... |
OMIM:151200 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Arthralgia of the hip, Disproportionate short... |
ORPHA:93284 |
| Hypochondroplasia |
|
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Sleep apnea... |
ORPHA:429 |
| Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphys... |
ORPHA:177 |
| Bresek Syndrome |
|
Cleft palate, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Intrauterine gro... |
ORPHA:85284 |
| Harrod Syndrome |
|
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Cryptorchidism, A... |
OMIM:601095 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Depressed nasal bridge, Flared femoral metaphysis... |
ORPHA:1427 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis |
ORPHA:2010 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Talipes equinovarus, Depressed nasal ridge, Tracheomalacia, Micrognathia, R... |
OMIM:608022 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon |
OMIM:613603 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Disproportionate short-limb short stature, Pectus excavatum, Metaphyseal spur... |
OMIM:608728 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Talipes equinovarus, Adducted thumb, Enlarged naris, Micrognathia, Respiratory i... |
OMIM:616266 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Radioulnar synostosis, Short nose, Sprengel anomaly, Short fifth metatar... |
OMIM:134780 |
| Thoracopelvic Dysostosis |
|
Neonatal respiratory distress, Short stature, Short ribs |
OMIM:187770 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Postaxial Acrofacial Dysostosis |
|
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... |
ORPHA:246 |
| Laurin-Sandrow Syndrome |
|
Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal metacarpal morpholo... |
ORPHA:2378 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Broad nasal tip, Depressed nasal bridge, Cone-shaped capital femoral epiphysis... |
OMIM:300232 |
| Orofaciodigital Syndrome Ix |
|
Short stature, Short tibia, Broad nasal tip, Camptodactyly, Recurrent aspiration pneumonia, Bifid... |
OMIM:258865 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Pectus excavatum, Talipes equinovarus, Camptodactyly of finger, Respiratory... |
OMIM:614399 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Microretrognathia, Convex nasal ridge, Progressive forearm bowing, M... |
OMIM:600383 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismus, Talipes equ... |
OMIM:154400 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Hypoplasia of the m... |
ORPHA:363417 |
| Hyperekplexia 4 |
|
Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, R... |
OMIM:618011 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Retrognathia, Camptodactyly of finger, Mesomelia, Abnormal metacarp... |
ORPHA:2631 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Ch... |
ORPHA:2759 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Miscarriage, Short 1st metacarpal... |
ORPHA:2438 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:2484 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Dental malocclusion, S... |
ORPHA:1327 |
| Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Broad femoral neck, Flattened ep... |
OMIM:615222 |
| Astley-Kendall Dysplasia |
|
Disproportionate short-limb short stature, Micromelia, Epiphyseal stippling |
ORPHA:85175 |
| Achondrogenesis |
|
Narrow chest, Severe short stature, Micrognathia, Micromelia, Abnormality of bone mineral density... |
ORPHA:932 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Short stature, 11... |
OMIM:617877 |
| Postaxial Acrofacial Dysostosis |
|
Growth delay, Pectus excavatum, Malar flattening, Hypoplasia of the radius, Micrognathia, Congeni... |
OMIM:263750 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Pectus excavatum, Massively thickened long bone cortices, Short stature, Brachydactyly, Micromeli... |
OMIM:122900 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Abnormal rib... |
ORPHA:1354 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, Patellar subluxat... |
ORPHA:2958 |
| Pseudoaminopterin Syndrome |
|
Pectus excavatum, Prominent sternum, Slender finger, Clinodactyly of the 4th finger, Single trans... |
ORPHA:221120 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Mesomelic short stature, Short forearm |
OMIM:127350 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... |
ORPHA:239 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Intrauterine growth retardation, Radial bowing, Hand oligodact... |
ORPHA:2879 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Severe short stature, Micromelia, Short palm, Flared, irregular rib ends, Limitation o... |
ORPHA:168555 |
| Laron Syndrome |
|
Severe short stature, Delayed menarche, Limb undergrowth, Abnormal joint morphology, Delayed skel... |
OMIM:262500 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Limb underg... |
OMIM:601356 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Abnormal respi... |
ORPHA:266 |
| Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Malar flatten... |
OMIM:300244 |
| Nail-Patella Syndrome |
|
