Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Hip Dysplasia, Beukes Type |
|
Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific... |
ORPHA:2114 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Hepatic fibrosis, ... |
ORPHA:1505 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Cryptorch... |
OMIM:607143 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:600081 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... |
OMIM:231095 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Elevated circulating thyroid-stimulating h... |
ORPHA:356961 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... |
OMIM:300554 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Decreased circulati... |
OMIM:612301 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... |
OMIM:241530 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Enlarged kidney, Absen... |
OMIM:613091 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Abnormal foot morphology, Abnormal ha... |
ORPHA:456312 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:277440 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:130650 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Cryptorchidism |
OMIM:218550 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Preaxial hand polydactyly, Disproportionate shortening of the tibia, Short ribs... |
OMIM:263520 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... |
ORPHA:289157 |
Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Hypopituitarism, Syndac... |
OMIM:603671 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Hepatosplenomegaly, H... |
ORPHA:96334 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathi... |
OMIM:617925 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
Rothmund-Thomson Syndrome |
|
Increased susceptibility to fractures, Anemia, Abnormal trabecular bone morphology, Osteopenia, A... |
ORPHA:2909 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Short phalanx of finger, Hepatic fibrosis, Hypoplastic iliac wing, Metaphyseal ... |
OMIM:208500 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... |
ORPHA:3035 |
Yellow Fever |
|
Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Rothmund-Thomson Syndrome Type 2 |
|
Anemia, Abnormal trabecular bone morphology, Finger symphalangism, Pathologic fracture, Osteopeni... |
ORPHA:221016 |
Dent Disease |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
ORPHA:1652 |
Rothmund-Thomson Syndrome Type 1 |
|
Anemia, Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia, Aplastic anemia, N... |
ORPHA:221008 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Annular pancreas |
ORPHA:2470 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Camptodactyly of finger, Decreased response to growth hormone stimulation ... |
OMIM:602782 |
Saul-Wilson Syndrome |
|
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... |
OMIM:228520 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Patellar hypoplasia, Preaxial foo... |
ORPHA:1827 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... |
OMIM:615710 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Micromelia, Incre... |
ORPHA:3144 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Foot polydactyly, Absent nipple, Hip dislocation, Hand polydactyly,... |
OMIM:200980 |
Campomelic Dysplasia |
|
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... |
ORPHA:140 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal foot morphology, Abnormality of abdominal situs, Congenital hip d... |
ORPHA:1666 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Abnor... |
ORPHA:93111 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Overlapping fingers |
OMIM:609069 |
Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Pancreatic aplasia |
ORPHA:556955 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Metaphyseal irregularity, Decreased response to growth hormone stimulation... |
ORPHA:811 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Cranioectodermal Dysplasia 1 |
|
Short toe, Hepatic fibrosis, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Malformation of... |
OMIM:218330 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism |
ORPHA:261265 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent gallbladder, Pancreatic aplasia, Hitchhiker thumb, Exocrine pancreatic insufficiency |
OMIM:618500 |
Mody |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Hepatocellular adenoma |
ORPHA:552 |
Charge Syndrome |
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Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Hand monodactyly,... |
OMIM:214800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Pancreatic hypoplasia, Arachnodactyly, Biliary hyperplasia, Micrognathia, Overlapping toe, Contra... |
ORPHA:83617 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancreatic aplasia... |
ORPHA:2255 |
Liver Disease, Severe Congenital |
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Pancreatic hypoplasia, Biliary hyperplasia, Micrognathia, Jaundice, Abnormal hepatic echogenicity... |
OMIM:619991 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Reduced pancreatic beta cells |
ORPHA:99885 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality |
OMIM:137920 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Biliary atresia, Pancreatic hypoplasia |
OMIM:600001 |