| Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... |
ORPHA:2501 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hy... |
ORPHA:2780 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures |
OMIM:619884 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L... |
OMIM:615314 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo... |
ORPHA:2204 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper... |
ORPHA:281 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Recurrent fra... |
ORPHA:210110 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Short 1st metacarpal, Delayed skeletal maturation, Join... |
ORPHA:63442 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce... |
OMIM:166220 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
| Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvaria... |
OMIM:259440 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent... |
ORPHA:1858 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... |
ORPHA:83468 |
| Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Multiple bony cystic lesions, Hepatic amyloidosis, Renal amyloi... |
ORPHA:314652 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
| Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Short stature, Kyphoscoliosis, Wide anterior fontanel, Delayed s... |
OMIM:608545 |
| Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Idiopathic Pulmonary Fibrosis |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Clubbing of fingers, ... |
ORPHA:2032 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractur... |
ORPHA:53 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Interstitial Lung Disease 2 |
|
Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil pr... |
OMIM:178500 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Short stature,... |
OMIM:269300 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Open bite, Kyphosis, ... |
ORPHA:61 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... |
OMIM:617306 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... |
OMIM:132400 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... |
OMIM:610968 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... |
ORPHA:2485 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis... |
ORPHA:2635 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Coronal craniosynostosis, Cone-shaped ... |
OMIM:602849 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Beaking of vertebral ... |
OMIM:231070 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate, Mild short... |
OMIM:618292 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom... |
ORPHA:289157 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Short stature, Camptodactyly... |
ORPHA:1327 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Femoral bowing, Decreased body weight, Limitation of knee mobility,... |
OMIM:614856 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Single t... |
OMIM:210600 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... |
OMIM:613684 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Mandibular prognathia, Recurrent fractures, Single transverse palmar crease, Postnata... |
ORPHA:2324 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Delayed erupt... |
OMIM:265800 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
| Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... |
ORPHA:3098 |
| Diastrophic Dysplasia |
|
Joint dislocation, Micromelia, Micrognathia, Proximal placement of thumb, Symphalangism affecting... |
ORPHA:628 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Clubbing of fingers, Pulmonary fibrosis, Bone marrow hypocellularity, Reticular patte... |
OMIM:614742 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Dental maloccl... |
ORPHA:2471 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational... |
OMIM:616229 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Thoracolumbar scoliosis, Aplasia/Hypoplasia o... |
OMIM:113000 |
| Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ... |
OMIM:155050 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin... |
OMIM:126550 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal bone ossifica... |
ORPHA:163649 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Fi... |
OMIM:277440 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Sho... |
ORPHA:71267 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
| Myeloma, Multiple |
|
Amyloidosis, Paraproteinemia |
OMIM:254500 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
| Osteoglosphonic Dysplasia |
|
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, D... |
ORPHA:2645 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... |
OMIM:259730 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
| Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho... |
OMIM:612921 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Short stature, Dental malocclusion, Kyphoscoliosis |
OMIM:615541 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:264700 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig... |
OMIM:612301 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Accelerated skeletal matura... |
ORPHA:1423 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Avascular... |
OMIM:190351 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Increa... |
OMIM:602080 |
| Idiopathic Juvenile Osteoporosis |
|
Bone pain, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... |
ORPHA:166272 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Hypoplasia of the maxilla, Increased bone minera... |
ORPHA:1798 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossification, Cra... |
OMIM:618476 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, Short ... |
OMIM:257850 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, R... |
ORPHA:561 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy... |
ORPHA:2801 |
| Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... |
ORPHA:436 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Momo Syndrome |
|
Delayed eruption of teeth, Tall stature, Short stature, Large for gestational age, Thick lower li... |
ORPHA:2563 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... |
OMIM:616331 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... |
ORPHA:2050 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint... |
ORPHA:137834 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... |
ORPHA:251028 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Osteoporosis, Obesity, Short metatars... |
OMIM:612463 |
| Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Severe short stature, Micromelia, Micrognathia... |
ORPHA:35107 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
| Mulibrey Nanism |
|
Dental crowding, Short stature, Single transverse palmar crease, Absent frontal sinuses, Hypoplas... |
OMIM:253250 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pain, Genu valgum, Abn... |
ORPHA:93160 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Microg... |
OMIM:259720 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... |
OMIM:601957 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... |
OMIM:616294 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Os... |
ORPHA:2078 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, De... |
ORPHA:2484 |
| Rhizomelic Syndrome |
|
Rhizomelia, Short stature, Bifid distal phalanx of the thumb, Micrognathia, Wide anterior fontane... |
OMIM:268250 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... |
ORPHA:3079 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... |
OMIM:617952 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Short stature, Short toe, Pier... |
OMIM:617877 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Delayed skeletal maturation, Femoral bowing, Short 4th metacarpal, Broad thumb,... |
OMIM:619638 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr... |
OMIM:259410 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circulating IgE level,... |
OMIM:147060 |
| Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ... |
ORPHA:2583 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, High palate, Hypo... |
ORPHA:93315 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... |
OMIM:122860 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Recurrent fractures, Micromeli... |
OMIM:610682 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Recurrent fractures, Anemia |
OMIM:618107 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
| Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
| Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... |
ORPHA:93324 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Disp... |
OMIM:619131 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo... |
OMIM:166210 |
| Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Narrow foramen obturatorium, Foot joint contracture, Pulmonary fib... |
ORPHA:220402 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Increased circu... |
ORPHA:37748 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:618674 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... |
OMIM:615349 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition, Vertebral cleftin... |
OMIM:241500 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... |
ORPHA:2115 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation |
OMIM:600252 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... |
OMIM:612387 |
| Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick... |
OMIM:234250 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos... |
OMIM:614669 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Joint stiffness, Del... |
ORPHA:2107 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Joint hypermobility, Thoraco... |
OMIM:618853 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Short stature, Single transverse palmar cre... |
ORPHA:73272 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Kyphoscoliosis, Short... |
OMIM:616507 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Achondrogenesis Type 1A |
|
Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifica... |
ORPHA:93299 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Tall stature, Micrognathia, Distal joint laxity, Achilles tendon contracture, D... |
OMIM:617258 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Brachydactyly, Multiple joint contractures, Small for gestational age, Thoracic scoli... |
ORPHA:2959 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly |
ORPHA:436245 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion... |
ORPHA:263463 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... |
ORPHA:667 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Knee flexion contracture, High palate,... |
OMIM:193700 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Small for gestational age, Dental crowding, Short stature, Micrognathia, D... |
OMIM:610883 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Severe short stature, Bilateral single transverse palmar cr... |
ORPHA:2511 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... |
ORPHA:2863 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Abnormal metaphysis morphology, Short stature, Recurrent fractures |
ORPHA:417 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur... |
OMIM:265000 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
| Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature |
OMIM:616108 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Arachnodactyly, Reduced bone mineral density, Pulmonary fibrosis, Osteoporosis of ver... |
ORPHA:243 |
| Laron Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, Osteoarthritis, Short toe, Abnorma... |
ORPHA:633 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to... |
OMIM:611174 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
| Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Wormian bones, Micrognathia... |
OMIM:616897 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Delayed skeletal... |
OMIM:619293 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Carious t... |
OMIM:203550 |
| Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad fe... |
OMIM:615222 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... |
ORPHA:52430 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly... |
OMIM:269500 |
| Chondrodysplasia, Blomstrand Type |
|
Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, Flared metaphys... |
OMIM:215045 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clin... |
OMIM:617883 |
| Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac... |
OMIM:130070 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Micrognathia, Hypopl... |
OMIM:182212 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thic... |
OMIM:102370 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Hypopla... |
OMIM:194350 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1133 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Delayed skeleta... |
OMIM:614450 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Abn... |
ORPHA:576283 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Narrow mouth, Dental malocclusion, Cleft palate, Anteri... |
OMIM:602483 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion |
OMIM:608931 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... |
ORPHA:319195 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse... |
ORPHA:800 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Abnormal dental morphology, Recurrent fractures, Osteomalacia, ... |
ORPHA:2176 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... |
OMIM:619269 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hip dysplasia, Cranial hyperostosis, Pulmonary fibrosis |
ORPHA:457240 |
| Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip p... |
OMIM:300867 |
| Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short sta... |
ORPHA:915 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, E... |
ORPHA:89936 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
| Acrocraniofacial Dysostosis |
|
Short stature, Craniosynostosis, Tapered finger, Micrognathia, Coxa valga, Abnormal form of the v... |
ORPHA:949 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Kyph... |
OMIM:214150 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Recurrent fractures, Micrognathia, Persistence of primary teeth, Abn... |
ORPHA:2785 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... |
OMIM:611926 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu... |
OMIM:114300 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Small for gestational age, Single transverse palmar crease... |
OMIM:614541 |
| Short Syndrome |
|
Joint laxity, Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognat... |
OMIM:269880 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi... |
ORPHA:221016 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... |
OMIM:610913 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Wid... |
OMIM:619135 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Cerebellofaciodental Syndrome |
|
Short stature, Single transverse palmar crease, Tapered finger, Delayed skeletal maturation, Dent... |
OMIM:616202 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Overlapping toe, Short stature, Single transverse palmar crease, Micrognathia, Wi... |
OMIM:201170 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... |
ORPHA:420561 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Decreased circulating total IgM, Decreased ci... |
OMIM:618394 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral... |
OMIM:601559 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral en... |
ORPHA:289176 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... |
ORPHA:1855 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Hypophosphatasia, Childhood |
|
Short stature, Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs |
OMIM:241510 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Kyphoscoliosis, Abno... |
OMIM:163200 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Increased vertebral height, Clinodactyly of the 5th finge... |
ORPHA:2616 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft pala... |
ORPHA:3473 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,... |
ORPHA:140 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ... |
OMIM:271640 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Accelerated skeletal maturation, Multiple joint dislocation, Knee dislo... |
OMIM:245600 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... |
OMIM:619736 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke... |
ORPHA:157215 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Carious teeth, Elbow dis... |
ORPHA:10 |
| Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
| Felty Syndrome |
|
Recurrent respiratory infections, Recurrent pharyngitis, Recurrent pneumonia, Limitation of joint... |
ORPHA:47612 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... |
OMIM:612731 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Short stature, Wide anterior fontanel, Decreased skull ossification, Tooth... |
ORPHA:2963 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures |
ORPHA:2772 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... |
ORPHA:329178 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short... |
OMIM:611717 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Clubbing of fingers,... |
ORPHA:2302 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Intralobular septal thickening, Clubbing, Elevated bronchoalv... |
OMIM:619611 |
| Chronic Beryllium Disease |
|
Pulmonary fibrosis, Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonod... |
ORPHA:133 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Osteoporosis, Obesity, Sho... |
OMIM:103580 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
| Shox-Related Short Stature |
|
Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... |
ORPHA:314795 |
| Maffucci Syndrome |
|
Bone pain, Recurrent fractures, Osteolysis |
ORPHA:163634 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
| Momo Syndrome |
|
Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Dental maloccl... |
OMIM:157980 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed... |
ORPHA:50814 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia... |
OMIM:225410 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... |
ORPHA:3369 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,... |
ORPHA:98850 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Cutaneous macular amyloidosis, Amyloidosis, Finger joint hypermobility |
OMIM:615225 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Oligoarthritis, Decreased circulating total IgM, Decreased circ... |
OMIM:619510 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna... |
OMIM:618150 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst |
OMIM:221770 |
| Aspergillosis |
|
Osteomyelitis, Pneumonia, Hypersensitivity pneumonitis, Increased circulating IgE level, Bronchie... |
ORPHA:1163 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Delayed eruption of teeth, Joint laxity, Thin upper lip vermilion, Short stature, Del... |
OMIM:607812 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
| Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Fai... |
ORPHA:3238 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Short stature, Micromelia, Kyphosis, Limited elbow extension, ... |
OMIM:180870 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High palate, Short p... |
ORPHA:254531 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Joint contracture, Pulmonary fibrosis |
OMIM:615704 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... |
OMIM:143095 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Pulmonary fibrosis |
OMIM:612852 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... |
OMIM:619322 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Increased vertebral height, Clinodactyly of the 5th fin... |
OMIM:273750 |
| Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing... |
OMIM:619149 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... |
OMIM:239000 |
| Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Birth length greater than 97th percentile, Flexion contracture, Dental malocclusi... |
OMIM:310400 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium, Pulmonary fibrosis |
ORPHA:220393 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
| Coffin-Siris Syndrome 3 |
|
Joint laxity, Short stature, Delayed skeletal maturation, Short distal phalanx of the 5th finger,... |
OMIM:614608 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Dental crowding, Delayed closure of the anterior fontanelle, Short sta... |
ORPHA:231140 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... |
ORPHA:192 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wide distal femoral ... |
OMIM:613320 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Abnormal ora... |
ORPHA:952 |
| Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Single transverse pal... |
OMIM:123450 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo... |
ORPHA:955 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ... |
ORPHA:357058 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:614743 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,... |
OMIM:614613 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio... |
OMIM:608747 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglossia, Long phil... |
OMIM:616354 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bon... |
ORPHA:88630 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Proportionate short stature, Carious teeth, Delayed s... |
OMIM:244460 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... |
ORPHA:50945 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal pha... |
ORPHA:15 |
