Coxa Vara |
|
Coxa vara |
OMIM:122750 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... |
OMIM:611497 |
Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... |
OMIM:619598 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p... |
ORPHA:566943 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands |
OMIM:615198 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Tall stature, Curved distal phalanges of the hand, ... |
ORPHA:3152 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... |
OMIM:607634 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Lower limb asymmetry, Flexion contracture |
OMIM:166700 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Bone marrow... |
OMIM:166600 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... |
ORPHA:2204 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger |
OMIM:259270 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... |
OMIM:182255 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... |
OMIM:142669 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology |
ORPHA:1522 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... |
ORPHA:93323 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Elevated circulating creat... |
OMIM:620366 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... |
OMIM:259710 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Thick eyebrow, Epicanthus, Rad... |
ORPHA:3268 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ... |
OMIM:132400 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga |
OMIM:613618 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... |
OMIM:611490 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ... |
OMIM:127300 |
Osteopetrosis, Autosomal Recessive 1 |
|
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, ... |
OMIM:259700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypopho... |
OMIM:307800 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Disproportionate short stature, Abnormal epiphysis morphology, Reduced bone mineral density, Bowi... |
ORPHA:2501 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Epicanthus, H... |
OMIM:277440 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... |
OMIM:617719 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Delayed eruption of teeth, Short toe, Short finger, Hypocalcemic tetany, Obesi... |
OMIM:103580 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... |
OMIM:609324 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... |
ORPHA:53697 |
Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Reduced bone mineral density, Ge... |
OMIM:617974 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Failure to thrive, Malar flattening, Elevated circulating creatine kinase c... |
OMIM:614727 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increased bone density with cy... |
ORPHA:94089 |
Weismann-Netter Syndrome |
|
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... |
ORPHA:3344 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... |
ORPHA:166277 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Epicanthus, Calvarial h... |
OMIM:101800 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Obesity, Hypocalcemia, Short n... |
OMIM:612462 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... |
ORPHA:75508 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Osteopetrosis, Short stature, Clinodactyly of the 5th finger, Increased bone minera... |
OMIM:617306 |
Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel... |
ORPHA:53 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... |
ORPHA:3104 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, B... |
OMIM:264700 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... |
ORPHA:90650 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
Osteogenesis Imperfecta, Type Xxii |
|
Slender long bone, Abnormal blood phosphate concentration, Intrauterine growth retardation, Bowin... |
OMIM:619795 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormality of the dentition, Abnormal adipose tissue morphology, Coarse metaphyseal trabeculariz... |
ORPHA:93160 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Failure to thrive, Kyphosis, Recurrent fractures, Short humerus, L... |
OMIM:239000 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... |
ORPHA:628 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora... |
OMIM:600081 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Mildly elevated creat... |
OMIM:600969 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Short stature, Diaphy... |
OMIM:122860 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... |
OMIM:612301 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... |
OMIM:144750 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph... |
ORPHA:289157 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme... |
ORPHA:3269 |
Melorheostosis |
|
Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr... |
ORPHA:2485 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Acrodysostosis |
|
Open bite, Open mouth, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abno... |
ORPHA:950 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Epicanthus, Short neck, Abnormal bone ossification, Flattened epiphysis, High palat... |
ORPHA:163649 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Short stature, Growth delay |
OMIM:618541 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... |
OMIM:618618 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300554 |
Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis,... |
ORPHA:2780 |
Pyle Disease |
|
Absent paranasal sinuses, Genu valgum, Limited elbow extension, Metaphyseal widening, Metaphyseal... |
OMIM:265900 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... |
ORPHA:93396 |
Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... |
ORPHA:210110 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... |
ORPHA:71289 |
Distal Arthrogryposis Type 1 |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... |
ORPHA:1146 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Osteopetrosis, Sh... |
OMIM:259730 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th... |
OMIM:231095 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... |
OMIM:602080 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,... |
OMIM:184255 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs |
OMIM:146350 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... |
ORPHA:1350 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... |
ORPHA:1452 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femo... |
OMIM:614856 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Metatropic Dysplasia |
|
Severe short stature, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Micro... |
ORPHA:2635 |
Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia |
OMIM:615612 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Increased bone mineral density |
OMIM:618406 |
Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... |
ORPHA:93284 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Abno... |
ORPHA:94068 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased HbA2 hemoglobin, Pes cavus, Decreased mean corpuscular volume... |
OMIM:616943 |
X-Linked Hypophosphatemia |
|
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, H... |
ORPHA:89936 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Abnormal c... |
OMIM:241530 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture |
OMIM:174810 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormality of the spheno... |
ORPHA:249 |
Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Hep... |
ORPHA:763 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum, Micrognathia, H... |
OMIM:241410 |
Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... |
ORPHA:1525 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... |
OMIM:618476 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
Osteopetrosis, Autosomal Recessive 5 |
|
Flared metaphysis, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Microg... |
OMIM:259720 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet... |
ORPHA:289176 |
Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum... |
ORPHA:2323 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... |
ORPHA:85184 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo... |
ORPHA:1837 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Hypocalcemic tetany, Persistenc... |
ORPHA:93325 |
Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... |
ORPHA:79444 |
Schwartz-Jampel Syndrome |
|
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G... |
ORPHA:800 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss... |
OMIM:215045 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Sh... |
ORPHA:1782 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... |
ORPHA:2097 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... |
ORPHA:1310 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... |
OMIM:601559 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr... |
ORPHA:93307 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Sparse la... |
OMIM:190351 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, High ... |
ORPHA:254531 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Brachydactyly, Short stature, Reduced bone mineral density, Delayed ossificat... |
OMIM:618392 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Spreng... |
ORPHA:1988 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Increased insulin like grow... |
OMIM:619489 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan... |
OMIM:618363 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha... |
OMIM:615923 |
Dysostosis, Stanescu Type |
|
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... |
ORPHA:1798 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Aplastic anemia, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Neutropenia,... |
ORPHA:2909 |
Dominant Beta-Thalassemia |
|
Abnormality of the dentition, Abnormality of iron homeostasis, Reduced hemoglobin A, Hyperplasia ... |
ORPHA:231226 |
Camurati-Engelmann Disease |
|
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu... |
ORPHA:1328 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Axial Osteomalacia |
|
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia |
OMIM:109130 |
Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... |
OMIM:224300 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... |
OMIM:166260 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
Brachydactylous Dwarfism, Mseleni Type |
|
Severe short stature, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joi... |
ORPHA:2619 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... |
OMIM:112450 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
Hypophosphatasia, Childhood |
|
Carious teeth, Rachitic rosary, Elevated plasma pyrophosphate, Premature loss of primary teeth, C... |
OMIM:241510 |
Temple Syndrome |
|
Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Overweight, Hypertriglyceridemia, J... |
OMIM:616222 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... |
ORPHA:2756 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormal rib cage morphology, Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone o... |
OMIM:608154 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Hypocalcemia, Brachydactyly, Short metacarpal |
OMIM:603233 |
Monosomy 5P |
|
Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Recurrent frac... |
ORPHA:281 |
Acrootoocular Syndrome |
|
Micrognathia, Anodontia, Epicanthus, Blepharophimosis, Small thenar eminence, Short foot, Short m... |
ORPHA:2980 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... |
ORPHA:1486 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... |
OMIM:619073 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... |
ORPHA:1106 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... |
ORPHA:93351 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia,... |
OMIM:193100 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Dec... |
OMIM:613848 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat... |
ORPHA:37748 |
Laron Syndrome |
|
Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterol... |
ORPHA:633 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... |
OMIM:610539 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro... |
OMIM:616897 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micr... |
OMIM:201170 |
Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Osteopenia, Kyphosis, Downslanted palpebral fissures, Micrognathia, Open mouth... |
ORPHA:2479 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... |
OMIM:619638 |
Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Shor... |
OMIM:620639 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Osteopenia, Metaphyseal cupping, Clubbing of fingers, Pathologic fracture, Mic... |
OMIM:156400 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Sparse eyebrow, Cone-shaped epiphysis, Short distal phalanx of fing... |
ORPHA:77258 |
Desmosterolosis |
|
Severe short stature, Micromelia, Intrauterine growth retardation, Micrognathia, Splenomegaly, Ta... |
ORPHA:35107 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Moderately short stature, Abnormal metaphysis morphology, Flat ca... |
ORPHA:157965 |
Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... |
ORPHA:971 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Pectus carinatum, Joint... |
ORPHA:582 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... |
OMIM:127000 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Slender build, Intrauterine growth retardation, Slender long... |
ORPHA:50811 |
Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... |
ORPHA:79445 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
Atelosteogenesis Type I |
|
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Neonatal short-trunk sho... |
ORPHA:1190 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Bow... |
ORPHA:89937 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista... |
ORPHA:99642 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
Cohen Syndrome |
|
Micrognathia, Open mouth, Genu valgum, Narrow palm, Pes planus, Neutropenia, Short metacarpal, Hi... |
OMIM:216550 |
Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... |
ORPHA:1801 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Retrognathia, Failure to thrive, Micrognathia, Anisocytosis, Camptodactyly, Flexion contracture, ... |
OMIM:604273 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den... |
ORPHA:2370 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Pes planus, High palate, Gingival fibromatosis, Anterior open-bite malo... |
ORPHA:3473 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Denta... |
ORPHA:2457 |
Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Broad foot, Talipes, Epicanthus, Short neck, Pes planus, Everted l... |
ORPHA:915 |
Trichorhinophalangeal Syndrome Type 2 |
|
Wide nasal bridge, Abnormality of the dentition, Joint dislocation, Long philtrum, Avascular necr... |
ORPHA:502 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial... |
ORPHA:2658 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, In... |
OMIM:620076 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Pes planus, Short no... |
ORPHA:819 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Ra... |
OMIM:108721 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Small hand, Unilateral cleft lip, Sparse lateral eyebrow, Finger syndactyly,... |
ORPHA:1787 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downtu... |
ORPHA:93267 |
Ck Syndrome |
|
Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... |
OMIM:300831 |
Opsismodysplasia |
|
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypophosphatemia, Anterior ri... |
OMIM:258480 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s... |
OMIM:248370 |
Hypophosphatasia |
|
Abnormality of the dentition, Narrow chest, Failure to thrive in infancy, Hypercalcemia, Bowing o... |
ORPHA:436 |
Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:617642 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav... |
OMIM:620099 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Abnormal forearm morphology, Scoliosis, Everted ... |
OMIM:182290 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Sparse eyebrow, Cleft lip, Ha... |
OMIM:616300 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Growth delay, Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Path... |
ORPHA:157215 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... |
OMIM:253000 |
Pycnodysostosis |
|
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence... |
OMIM:265800 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Elevated circulating creatinine concentration, Short stature, Growth delay, Bowing of th... |
OMIM:615605 |
Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal e... |
ORPHA:85198 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... |
ORPHA:83451 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
Microcephaly-Micromelia Syndrome |
|
Short palpebral fissure, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micro... |
OMIM:251230 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Narrow mouth, Joint hypermobility, ... |
ORPHA:96184 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, M... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Increased upper to lower segm... |
OMIM:271530 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red... |
ORPHA:1508 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Butterfly vertebrae, Hypocalcemia, Short ... |
OMIM:607143 |
Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... |
OMIM:112350 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Talipes equin... |
OMIM:611209 |
Tetrasomy X |
|
Abnormality of the dentition, Upslanted palpebral fissure, Joint hypermobility, Radioulnar synost... |
ORPHA:9 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ... |
OMIM:244460 |
Mesomelic Dysplasia, Nievergelt Type |
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Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... |
ORPHA:2633 |
Gorham-Stout Disease |
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Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... |
ORPHA:73 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Abnormal epiphysis morphology, Downturned corners of mouth, Downslanted palpebral fissures, Ename... |
ORPHA:2643 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Inabili... |
OMIM:166300 |
Thrombocytopenia-Absent Radius Syndrome |
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Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
Autosomal Recessive Primary Microcephaly |
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Short stature, Abnormal cortical bone morphology, Growth delay |
ORPHA:2512 |
Camurati-Engelmann Disease |
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Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Reduced... |
OMIM:131300 |
Blomstrand Lethal Chondrodysplasia |
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Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... |
ORPHA:50945 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m... |
ORPHA:85435 |
Omodysplasia 1 |
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Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
Autosomal Recessive Robinow Syndrome |
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Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... |
ORPHA:1507 |
Raine Syndrome |
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Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud... |
OMIM:259775 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Epi... |
OMIM:609945 |
Orofaciodigital Syndrome Ii |
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Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... |
OMIM:252100 |
Rothmund-Thomson Syndrome Type 2 |
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Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:221016 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Hypocalcemic tetany, Hypoca... |
ORPHA:93324 |
Specific Granule Deficiency 2 |
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Tooth malposition, Conical tooth, Osteopenia, Sandal gap, Failure to thrive, Absent neutrophil sp... |
OMIM:617475 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... |
OMIM:123000 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
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Wide nasal bridge, Downturned corners of mouth, Retrognathia, Lymphopenia, Long eyelashes, Leukop... |
OMIM:301110 |
Atelosteogenesis Type Iii |
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Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... |
OMIM:268305 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Highly arched eyebrow, Small hand, Cervical kyphosis, Short clavicles, Short neck, Hypercholester... |
ORPHA:401923 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Cartilage-Hair Hypoplasia |
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Small hand, Bowing of the long bones, Epicanthus, Short neck, Neutropenia, Abnormal bone ossifica... |
ORPHA:175 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal epiphysis morphology, Growth delay, Abnormal metaphysis morphology, Hypocalcemia, Spleno... |
ORPHA:667 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
Atelosteogenesis Type Ii |
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Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ... |
ORPHA:56304 |
Tricho-Dento-Osseous Syndrome |
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Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... |
ORPHA:3352 |
Neuhauser Syndrome |
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Wide nasal bridge, Bifid uvula, Osteopenia, Genu recurvatum, Long philtrum, Downslanted palpebral... |
OMIM:249310 |
Melnick-Needles Syndrome |
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Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin... |
ORPHA:2484 |
Cohen Syndrome |
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Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Narrow palm, Arachnodactyly, Neutropeni... |
ORPHA:193 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Osteogenesis Imperfecta, Type Xiv |
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Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract... |
OMIM:615066 |
Craniosynostosis With Fibular Aplasia |
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Craniosynostosis, Fibular aplasia |
OMIM:218550 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
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Retrognathia, Abnormal number of incisors, Finger clinodactyly, Inguinal hernia, Supernumerary ri... |
ORPHA:2958 |
Autosomal Dominant Robinow Syndrome |
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Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, Anodontia, Epicanthus, Euryblephar... |
ORPHA:3107 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Downslanted palpebral fissures, Obesity, Abnormal morphology of ulna, Short neck, Abnormal metaca... |
ORPHA:2233 |
Atelosteogenesis, Type Ii |
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Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
Kyphomelic Dysplasia |
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Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... |
OMIM:211350 |
Axial Spondylometaphyseal Dysplasia |
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Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Craniodiaphyseal Dysplasia |
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Wide nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
Fibrodysplasia Ossificans Progressiva |
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Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Failure to thr... |
ORPHA:337 |
Majeed Syndrome |
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Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... |
ORPHA:77297 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Achill... |
OMIM:617994 |
Pde4D Haploinsufficiency Syndrome |
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Micrognathia, Broad foot, Pes planus, Narrow palpebral fissure, Bilateral coxa valga, Broad phala... |
ORPHA:439822 |
Mosaic Trisomy 14 |
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Wide nasal bridge, Narrow chest, Lower limb asymmetry, Failure to thrive, Camptodactyly of finger... |
ORPHA:1703 |
2Q31.1 Microdeletion Syndrome |
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Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Epicanthus, Short nec... |
ORPHA:251014 |
Temtamy Preaxial Brachydactyly Syndrome |
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Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... |
ORPHA:363417 |
Hypochondroplasia |
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Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Limited elbow extensi... |
OMIM:146000 |
Acromesomelic Dysplasia 4 |
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Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
Spondyloperipheral Dysplasia |
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Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... |
OMIM:271700 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Micrognathia, Blepharophimosis, High palate, Short foot, Short metaca... |
OMIM:170390 |
Senior-Loken Syndrome |
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Short stature, Cone-shaped epiphysis, Abnormality of bone mineral density |
ORPHA:3156 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Radial bowing, Micrognathia, Splenomegaly, Upslanted palpebral fissure, Tibial bowing, Bowing of ... |
ORPHA:3035 |
Linear Verrucous Nevus Syndrome |
|
Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Reduced bone mineral densi... |
ORPHA:2611 |
Greenberg Dysplasia |
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Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Abnormal ... |
ORPHA:1426 |
Carpenter Syndrome 1 |
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Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... |
OMIM:201000 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Short neck, Neutropenia, Clubbing, Pectus carinatum, Inability to walk, Long eyelashe... |
OMIM:617303 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal dental morphology, Malar... |
ORPHA:2522 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ... |
ORPHA:239 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... |
ORPHA:3258 |
Galloway-Mowat Syndrome 7 |
|
Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa... |
OMIM:618348 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ... |
OMIM:619752 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thr... |
OMIM:222765 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ... |
ORPHA:352540 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... |
OMIM:143095 |
Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Ataxia, B... |
OMIM:253010 |
3M Syndrome |
|
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... |
ORPHA:2616 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist... |
ORPHA:1248 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... |
ORPHA:83468 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e... |
OMIM:608728 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Conjunctival... |
OMIM:211900 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Calcinosis, Leukemia, Short metaca... |
ORPHA:221008 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... |
ORPHA:166011 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala... |
OMIM:612350 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Abnormality of the ankle, Aplasia/Hyp... |
ORPHA:1307 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Mesomelia, Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finge... |
ORPHA:2631 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi... |
OMIM:100800 |
Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... |
ORPHA:2769 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Subperios... |
OMIM:618188 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Thrombocytopenia |
ORPHA:1237 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... |
OMIM:614524 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... |
ORPHA:2751 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|