Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Failure to thrive, Osteopet... |
OMIM:259700 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... |
OMIM:614188 |
Eiken Syndrome |
|
Short middle phalanx of finger, Midface retrusion, Oligodontia, Pseudoepiphyses, Long hallux, Typ... |
OMIM:600002 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... |
OMIM:166600 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... |
OMIM:259710 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density |
OMIM:190320 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Failure to thrive in infancy, Multiple unerupted teeth, Abnormal form of the verteb... |
ORPHA:2645 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Micrognathia, Osteopetrosis, Anemia, Decreased osteoclast count, Gingival overgrowt... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Macrocephaly, Thrombocytopenia |
OMIM:615085 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... |
OMIM:271530 |
Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Shor... |
OMIM:265800 |
Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... |
OMIM:265900 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocyto... |
OMIM:611490 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormality of limb bone morphol... |
ORPHA:2204 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Increased bone mineral density, Delayed cranial suture c... |
ORPHA:2780 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... |
ORPHA:566943 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Arthritis... |
ORPHA:53 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Macrocephaly, Incre... |
ORPHA:178377 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Reduced bone mineral density, Cholestasis, Hypocal... |
ORPHA:172 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Midface retrusion, Abnormal dental enamel morphology, Del... |
ORPHA:1452 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... |
OMIM:612840 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Osteochondrosis Of The Metatarsal Bone |
|
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chon... |
ORPHA:564003 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... |
ORPHA:2501 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Eiken Syndrome |
|
Abnormal acetabulum morphology, Limited elbow flexion, Thin bony cortex, Short stature, Narrow pe... |
ORPHA:79106 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... |
OMIM:190351 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Craniosynostosis 2 |
|
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Cleft soft palate, Trigonocephaly, Cranio... |
OMIM:604757 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Abnormality of the dentition, Osteoporosis, Osteopenia |
OMIM:615269 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Bowing of... |
ORPHA:313855 |
Hip Dysplasia, Beukes Type |
|
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... |
ORPHA:2114 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short long bone, Microretrog... |
OMIM:618363 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Malar flattening, Multiple prenatal fractures, Abnormal bone structure, Sup... |
OMIM:215140 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple... |
OMIM:273050 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Osteopetrosis |
OMIM:617306 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flatten... |
OMIM:311300 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... |
ORPHA:93284 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of epiphysis morphology, Lymphadenopathy, Osteopetrosis, Craniosynostos... |
ORPHA:667 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Desmosterolosis |
|
Metatarsus adductus, Micrognathia, Cleft palate, Talipes, Failure to thrive, Osteopetrosis, Epica... |
ORPHA:35107 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, K... |
OMIM:112350 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Short philtrum, Short stature, Osteoporosis, Platyspondyly, Delayed erupti... |
ORPHA:71267 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short 4th metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Limb u... |
OMIM:118651 |
Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teet... |
OMIM:619489 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Short stature, Abnormality of epi... |
ORPHA:63442 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Cleft pala... |
ORPHA:166119 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Micrognathia, High palate, Osteoporosis, Malar flattening, Wormian bones, Del... |
OMIM:613849 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, O... |
OMIM:611702 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Diaphragmatic eventration, Microcephaly |
OMIM:600252 |
Dominant Beta-Thalassemia |
|
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Malar prominence, Decreased mean corpuscular hem... |
ORPHA:231226 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... |
OMIM:259730 |
Marbach-Rustad Progeroid Syndrome |
|
Micrognathia, Short clavicles, Smooth philtrum, Hypodontia, Eruption failure, Wormian bones, Redu... |
OMIM:619322 |
Acrootoocular Syndrome |
|
Prominent calcaneus, Delayed eruption of teeth, Short toe, Micrognathia, Abnormality of facial mu... |
ORPHA:2980 |
Parastremmatic Dwarfism |
|
Kyphosis, Genu valgum, Severe short stature, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Diastrophic Dysplasia |
|
Irregular epiphyses, Costal cartilage calcification, Cleft palate, Hip contracture, Neonatal shor... |
OMIM:222600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Increased head circumference, Hypocalcemic seizures, Osteopetrosis, Anemia, Splenom... |
OMIM:612301 |
Osteoglophonic Dysplasia |
|
Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Malar flattening, Short phalanx of finger, H... |
OMIM:166250 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Carious teeth, Congenital hypoparathyroidism, Hypocal... |
ORPHA:93324 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... |
OMIM:618728 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Premature loss of primary teeth, Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hy... |
ORPHA:93160 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Cleidocranial Dysplasia |
|
Cleft palate, Aplastic clavicle, Malar flattening, Absent frontal sinuses, Increased bone mineral... |
OMIM:119600 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Malar prominence, Decreased... |
ORPHA:231214 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of ... |
ORPHA:3238 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomega... |
OMIM:224120 |
Gracile Bone Dysplasia |
|
Asplenia, Failure to thrive, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia, Sle... |
OMIM:602361 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Ollier Disease |
|
Lymphangioma, Anemia, Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilag... |
ORPHA:296 |
Trichorhinophalangeal Syndrome Type 2 |
|
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:502 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Congenital hypoparathyroidism, Small hand, Anemia, Calvarial osteosclerosis, Hypom... |
OMIM:244460 |
Sclerosteosis |
|
Diaphyseal thickening, Ptosis, Abnormal cortical bone morphology, Finger syndactyly, Curved dista... |
ORPHA:3152 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Bowing of the legs, Hypophosphatemia, Osteopenia, Hypocalcemia, Flared metaphysis, Me... |
OMIM:619073 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... |
ORPHA:37748 |
Diastrophic Dysplasia |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral b... |
ORPHA:628 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Abnormal palate morphology, Micrognathia, Crowded maxillary incisors, Abnormality ... |
ORPHA:2063 |
Flynn-Aird Syndrome |
|
Carious teeth, Increased bone density with cystic changes, Osteoporosis, Increased bone mineral d... |
OMIM:136300 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Failure to thrive, Supernumerary tooth, Delayed eruption of teeth, San... |
OMIM:264475 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Abnormal dent... |
ORPHA:2658 |
Odontochondrodysplasia 1 |
|
Genu varum, Short stature, Delayed eruption of teeth, Short phalanx of finger, Short long bone, F... |
OMIM:184260 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Hypochondroplasia |
|
Genu varum, Malar flattening, Childhood onset short-limb short stature, Limited elbow extension, ... |
OMIM:146000 |
Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Metaphy... |
OMIM:234250 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Metaphyseal widening, Osteopetrosis, Platyspondyly, Kyphosis, Macrocephaly, Hypocalcemia |
OMIM:618476 |
Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Hypo... |
ORPHA:763 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Short stature, Kyphosis, Delayed ossification of carpal bones, Decreas... |
OMIM:618392 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Se... |
OMIM:617780 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... |
ORPHA:77258 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Limitation of... |
ORPHA:3145 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Joint contracture of the hand, Delayed eruption of teeth, Moderately short stature... |
OMIM:612350 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Hypocalcemic... |
ORPHA:289157 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Shor... |
OMIM:612463 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... |
OMIM:191482 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis, Arthrogryp... |
OMIM:156530 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Malar flattening, Abnormal... |
OMIM:601559 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, Genu varum, Broad long bones, High palate, Microdontia, Mandibular prognathia, Cub... |
OMIM:269300 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... |
ORPHA:94089 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Smooth philtrum, Mandibular prognathia, Upslanted palpebral fissure, Abno... |
ORPHA:1133 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Micrognathia, High palate, Thin bony cortex, Overtubulated long bo... |
ORPHA:85184 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... |
ORPHA:398063 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Anodontia, Abnormal vertebral segmentatio... |
ORPHA:90650 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Increa... |
ORPHA:2769 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99977 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Oligodontia, Small for gestational age, Macroglossia, Epicanthus, Sp... |
OMIM:618440 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, Achilles tendon contract... |
OMIM:181350 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive... |
ORPHA:77297 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of ... |
ORPHA:47 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia... |
ORPHA:89937 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Sclerotic scapulae, Absen... |
OMIM:601376 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Limited elbow extensio... |
ORPHA:175 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Neutropenia, S... |
OMIM:250250 |
Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Osteoporosis, Pathologic fracture, Frontal bossing, Muscular... |
OMIM:307030 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Failure to thrive, Kyphoscolios... |
OMIM:614727 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Aplasia/Hypoplasia of the radius, Abnormal dental enamel morphology, Delayed erupt... |
ORPHA:2909 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of the dentition, Brachydactyly |
ORPHA:1264 |
Brachydactyly, Type E1 |
|
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Moderately short stature, Mul... |
OMIM:113300 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal palate morphology, Midface retrusion, Brachycephaly, Abnormality of epiph... |
ORPHA:1798 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Slender finger, Anisospondyly, Increased bone mineral density, Flat acetabular roof... |
ORPHA:163649 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Pes planus, Slanting of the palpebral fissure, Unilateral radial aplasia, Hyp... |
ORPHA:476126 |
Hallermann-Streiff Syndrome |
|
Malar flattening, Micrognathia, High palate, Wormian bones, Joint hypermobility, Narrow palate, F... |
OMIM:234100 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thrombocytopenia, Pancytopenia, Enlarged tonsils, Elliptocytosis, Micrognathia, High palate, Bone... |
ORPHA:2785 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Brachydactyly, Short distal... |
ORPHA:2787 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Facial diplegia, Diaphyseal sclerosis, Craniofacial hyperostosis, Macrocep... |
OMIM:122860 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Long philtrum, Kyphoscoliosis, Osteoporosis, Thin vermilion border, Arachnodactyly... |
OMIM:614856 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... |
OMIM:277440 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Flat occiput, High, narrow palate, Upper limb undergrowth, Micrognathia, Smooth philtrum, Ankle f... |
OMIM:608799 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Congenital hypoparathyroidism, Hypocalcemic seizures, Long philtrum, Patchy osteosc... |
OMIM:241410 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Wide anterior fontanel, Increased circ... |
OMIM:617241 |
Trisomy 9P |
|
Kyphosis, Short neck, Non-midline cleft lip, Downturned corners of mouth, Sacral dimple, Impacted... |
ORPHA:236 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Cleft soft palate, Abnor... |
ORPHA:2919 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Jaundice, Anemia of inadequate pr... |
ORPHA:231222 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Midface retrusion, Thin vermilion border, Wormian bones, Delayed eruption of teeth,... |
OMIM:601812 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... |
OMIM:177170 |
Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Cartilage destruction, Short stature |
ORPHA:2380 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... |
ORPHA:93314 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Thin vermil... |
OMIM:156510 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Cleft palate, Short ribs, Reduced bone mineral density, Cleft lip, Syn... |
ORPHA:1505 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Ric... |
OMIM:264700 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Osteoarthritis, Avascular necr... |
ORPHA:93308 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Hypodontia, Micrognathia, Failure to thrive, Thin vermilion border, Do... |
ORPHA:94063 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... |
OMIM:600785 |
Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... |
OMIM:259610 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Growth delay, Adducted thumb, Megaloblastic anemia, Thrombocytopenia, Decreased testicular size |
OMIM:601815 |
Dysosteosclerosis |
|
Short stature, Irregular vertebral endplates, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1782 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Micrognathia, Cleft palate, High palate, Overtubulated long bones, Hypodontia, Wid... |
ORPHA:3473 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Short stature, Leukemia, Metaphysea... |
ORPHA:811 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Osteoporosis |
OMIM:204730 |
Metatropic Dysplasia |
|
Cleft palate, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abn... |
ORPHA:2635 |
Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... |
ORPHA:436 |
Dysosteosclerosis |
|
Increased intervertebral space, Oligodontia, Delayed eruption of teeth, Absent frontal sinuses, P... |
OMIM:224300 |
Roifman Syndrome |
|
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Broad femoral head, Hip contractu... |
ORPHA:353298 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Micrognathia, Oligodontia, Supernumerary tooth, Malar flattening, Small hand... |
ORPHA:1787 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Limb undergrowth... |
ORPHA:1423 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Sh... |
ORPHA:166277 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Cleft palate, Hip contracture, Talipes equinovarus, Skeletal muscle hypertr... |
ORPHA:800 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... |
ORPHA:93405 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... |
OMIM:250460 |
Slc35A2-Cdg |
|
Metatarsus adductus, Limb joint contracture, Increased circulating thyroglobulin level, Failure t... |
ORPHA:356961 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Gingival fibromatosi... |
ORPHA:3019 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Beaking of vertebral ... |
ORPHA:137834 |
Short Stature, Brussels Type |
|
Growth delay, Short stature, Delayed epiphyseal ossification, Calcification of cartilage, Microre... |
ORPHA:2867 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Brachyceph... |
ORPHA:2097 |
Odontochondrodysplasia |
|
Cone-shaped epiphysis, Short stature, Bowing of the long bones, Abnormality of the metaphysis, De... |
ORPHA:166272 |
Myopathy, Distal, 3 |
|
EMG: myopathic abnormalities, Joint contracture of the hand, Rimmed vacuoles, Split hand, Muscula... |
OMIM:610099 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Micrognathia, Long philtrum, Patchy osteoscler... |
ORPHA:2323 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteo... |
OMIM:166300 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Gingival bleeding, Leukopenia, Biliary tract obstruction, Anemia, Osteopenia, Patho... |
ORPHA:77259 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... |
OMIM:619658 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular vo... |
OMIM:612561 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thick lower lip vermilion, Flat occiput, High palate, Submucous cleft hard palate, Supernumerary ... |
OMIM:617412 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy |
OMIM:613205 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Alopecia, Anemia, Spl... |
OMIM:603554 |
Hennekam Syndrome |
|
Abnormal foot morphology, Lymphadenopathy, Lymphangioma, Delayed eruption of teeth, Splenomegaly,... |
ORPHA:2136 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Short philtrum, Talipes equinovarus, Small for gestational age, Failure to t... |
OMIM:607143 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Cleft palate, Hip contracture, Short stature, Malar flattening, Delayed epiphys... |
OMIM:601561 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Kyphosis, Slender finger, Scoliosis, Hypoplasia of the odontoid process, Vertebral... |
OMIM:609813 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Jaundice,... |
OMIM:615631 |
Muscular dystrophy, limb-girdle, type 2R |
|
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture |
OMIM:615325 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe |
OMIM:618453 |
Carpenter Syndrome 1 |
|
Genu varum, Malar flattening, Joint contracture of the hand, Telecanthus, Deviation of finger, Sh... |
OMIM:201000 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Metaphyseal dysplasia, Microdontia, Oligodontia, Epicanthus, Short 5th finger, Ena... |
ORPHA:557003 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Cleft palate, Growth delay, Short stature, Cleft upper lip, Long fingers, Tent... |
OMIM:614294 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Failure to thrive, Slender build, Cubitus valgus, Disharmonious carpal... |
OMIM:608154 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Micrognathia, Brachycephaly, Supernumerary tooth, Malar flattening, Small ha... |
ORPHA:2108 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Carious teeth, Mandibular prognathia, Slender build, ... |
OMIM:131300 |
Osteogenesis Imperfecta, Type V |
|
Limited pronation/supination of forearm, Wormian bones, Osteopenia, Joint hypermobility, Abnormal... |
OMIM:610967 |
Growth Hormone Insensitivity Syndrome |
|
Large fontanelles, Failure to thrive, Delayed eruption of teeth, Truncal obesity, Abnormality of ... |
ORPHA:181393 |
Pseudohypoparathyroidism Type 1C |
|
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Increas... |
ORPHA:79444 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... |
OMIM:275595 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness, Coxa val... |
OMIM:616583 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis, Microcephaly |
OMIM:608432 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Metaphyseal dysplasia, Short long... |
ORPHA:93316 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Club-shaped distal femur, Delayed eruption of permanent teeth, Mandibular ... |
OMIM:218400 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Delayed closure of the anterior fontanelle, Hyperostosis, Increased susceptibility... |
OMIM:604922 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Growth delay, Increased mean corpuscular volume, Short stature, T... |
OMIM:612563 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Midface retrusion, Abnormality of the dentition, Short distal phalanx of finger, Hypoplasia of th... |
ORPHA:2776 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Protrusio acetabuli, Hypoplasia of... |
OMIM:259600 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Smooth philtrum, Genu varum, Short metatarsal, Malar flattening, Shor... |
OMIM:251450 |
Acrodysostosis |
|
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Hypoplasia of the radius, Abnorm... |
ORPHA:950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Roifman Syndrome |
|
Hip contracture, Prominent eyelashes, Lymphadenopathy, Splenomegaly, Thin upper lip vermilion, Sh... |
OMIM:616651 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... |
ORPHA:69087 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Flexion contractur... |
OMIM:613155 |
Rothmund-Thomson Syndrome, Type 2 |
|
Micrognathia, High palate, Microdontia, Small for gestational age, Talipes equinovarus, Mandibula... |
OMIM:268400 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Congenital hip dislocation, Delayed eruption of teeth, W... |
OMIM:614450 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Short lower limbs, Hypercalcemia, Bowing of the legs, Failure t... |
OMIM:241500 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Short metacarpal, Supernumerary tooth |
ORPHA:627 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Lymphadenopathy, Anemia, Splenomegaly, Hepa... |
ORPHA:824 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Intrauterine growth retardatio... |
ORPHA:2169 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Irregular vertebral e... |
OMIM:609223 |
Camurati-Engelmann Disease |
|
Carious teeth, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1328 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... |
ORPHA:1972 |
Duplication Of The Pituitary Gland |
|
Brachyturricephaly, Cleft palate, Wide mouth, Supernumerary tooth, Abnormality of the tongue, Mic... |
ORPHA:314621 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Malar flattening, Short ribs, Advanced ossification of ... |
OMIM:215045 |
Ck Syndrome |
|
Micrognathia, High palate, Slender build, Malar flattening, Abnormal cortical bone morphology, Ky... |
OMIM:300831 |
Classic Multiminicore Myopathy |
|
High palate, Increased muscle lipid content, Weakness of facial musculature, Failure to thrive, M... |
ORPHA:324604 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Hepatomegaly, Long fingers, Anemia, Hepatic steatosis, Long toe |
OMIM:615438 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Abnormality of the medullary cavity of the long bones, Small for gestational ... |
OMIM:127000 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, Epiphyseal dysplasi... |
OMIM:272460 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Catifa Syndrome |
|
Cleft palate, Long philtrum, Mild microcephaly, Tooth malposition, Delayed eruption of teeth, Cle... |
OMIM:618761 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Disproportionate short stature, Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of... |
OMIM:609616 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Cleft palate, Smooth philtrum, High palat... |
OMIM:235255 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Microcephaly, Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture |
OMIM:609308 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Coxa valga, Radial bowing, Abnormal metatarsal morphology, High palate, Fibular hy... |
OMIM:127300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... |
OMIM:608840 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Singleton-Merten Syndrome 1 |
|
Carious teeth, Expanded metacarpals with widened medullary cavities, Smooth philtrum, Tendon rupt... |
OMIM:182250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Short stature, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shape... |
OMIM:190350 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Redu... |
ORPHA:2370 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital bilateral hip dislocation, Mild short stature, Increased susceptibility to fractures, ... |
OMIM:130060 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short stature, Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short dist... |
ORPHA:1858 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplasia of the odontoid process, Hy... |
OMIM:607326 |
Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Broad toe, Telecanthus, Short ribs, Broad distal phalanges of all fingers, ... |
OMIM:218330 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Infertility, Short stature, Rickets, Decreased circulating IgA... |
OMIM:212750 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Vertebral wedging, Short stature, Increased susceptib... |
OMIM:259450 |
Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Small epiphyses, Intervertebral space narrowing, Long philtrum, Kyphoscolios... |
ORPHA:263463 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Premature loss of teeth, Anemia, Osteopenia, Splenomegaly, Gingivitis, Hyperparathy... |
OMIM:618107 |
Kniest Dysplasia |
|
Cleft palate, Coronal cleft vertebrae, Hip contracture, Flattened, squared-off epiphyses of tubul... |
OMIM:156550 |
Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Polydactyly, Cleft palate, Telecanthus, Syndactyly, ... |
OMIM:300484 |
Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Lymphadenopathy, Polycythemia, Weight loss, Sclerosis of ... |
ORPHA:2905 |
Oncogenic Osteomalacia |
|
Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasia of th... |
ORPHA:352540 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Short finger, Tapered finger, Platyspondyly, Knee flexion contracture, Kyphosis,... |
OMIM:313420 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
Hall-Riggs Syndrome |
|
Wide mouth, Short stature, Abnormality of epiphysis morphology, Failure to thrive, Abnormal denta... |
ORPHA:2107 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cleft palate, Neutropenia, Thrombocytopenia, Leukopenia, Monocytosis, High palate, ... |
OMIM:612541 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Hypoplastic nipples, Epiphyseal stippling, Prominent calcaneus, Short rib... |
ORPHA:96334 |
Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, Delayed eruption of permanent teeth, High palate, Macrocephaly, Everted lowe... |
OMIM:228560 |
Wt Limb-Blood Syndrome |
|
Micrognathia, Hypoplastic anemia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Leuke... |
OMIM:194350 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Wormian bones, Delayed eruption of teeth,... |
ORPHA:2863 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Fragmented epiphyses, Short stature, Metaphyseal irregularity, Epiphyseal dysplasia, ... |
ORPHA:93360 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Eosinophilia, Craniosynostosis, Osteopenia, Joint hypermobility, Persistence of prim... |
OMIM:147060 |
Pseudohypoparathyroidism Type 1A |
|
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Reduced... |
ORPHA:79443 |
Alpha-Mannosidosis |
|
Widely spaced teeth, Hepatomegaly, Open bite, Macroglossia, Mandibular prognathia, Bowing of the ... |
ORPHA:61 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Xerostomia, Decreased circulatin... |
ORPHA:227990 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulocytosis, Anemia... |
OMIM:613673 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Abnormality of epiphysis morpho... |
ORPHA:970 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Toe syndactyly, High palate, Open bite, Brachycephaly, Mandibular prognathia, Cubi... |
ORPHA:1327 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Thin vermilion border, Dela... |
OMIM:602557 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Short middle phalanx of finger, Cleft palate, Short greater sciatic notch, Increase... |
OMIM:256050 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Micrognathia, Intrauterine growth retardation, Severe pos... |
ORPHA:73272 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Macrocytic anemia, Anterior pituitary dysgenesis, Leukopenia, Apla... |
ORPHA:227982 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... |
OMIM:613818 |
Neu-Laxova Syndrome |
|
Cleft palate, Rickets, Pterygium, Osteomalacia, Micrognathia, Aplasia/Hypoplasia involving the sk... |
ORPHA:2671 |
Melnick-Needles Syndrome |
|
Micrognathia, Short clavicles, Short stature, Bowing of the long bones, Tooth malposition, Abnorm... |
ORPHA:2484 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature |
OMIM:608278 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... |
ORPHA:93352 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Decreased calvarial ossification, Disproportionate short-limb short stature, P... |
OMIM:259440 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Abnormal joint morphology, Wormian bones, Platybasia, Moderate generalized osteoporosis, Abnormal... |
OMIM:166230 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Growth delay, Bowing of the legs, Rickets, Failu... |
OMIM:600081 |
Acromicric Dysplasia |
|
Thick lower lip vermilion, Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Long philtru... |
OMIM:102370 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absent radius, Short tibia, Sh... |
OMIM:251230 |
Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cleft palate, Narrow palpebral fissure, Submucous cleft hard palate, Failure ... |
ORPHA:3426 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Mal... |
ORPHA:2511 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Cleft palate, Long upper lip, Short stature, Limited elbow extension, Elbow flexion contracture, ... |
ORPHA:93359 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Micrognathia, Small epiphyses, Cervical instability, Laryngotracheomalacia, Abnorm... |
ORPHA:93346 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short finger, Abnormality of long bone morphology, Short toe, Abnormality of pelvic girdle bone m... |
OMIM:259270 |
Momo Syndrome |
|
Thick lower lip vermilion, Smooth philtrum, High palate, Long philtrum, Abnormal bone ossificatio... |
ORPHA:2563 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... |
OMIM:604286 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia |
OMIM:608971 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
Acrocephalopolydactyly |
|
Limb undergrowth, Epicanthus, Genu recurvatum, Abnormality of the mouth, Hepatosplenomegaly, Shor... |
ORPHA:221054 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening... |
OMIM:608728 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Thin ... |
OMIM:170390 |
Dysspondyloenchondromatosis |
|
Short stature, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar met... |
ORPHA:85198 |
48,Xxyy Syndrome |
|
Carious teeth, Thick lower lip vermilion, Flat occiput, Cleft palate, Radioulnar synostosis, Infe... |
ORPHA:10 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Micrognathia, Flexion contracture of toe, Short stature, Abnormality of epiphysis... |
ORPHA:3409 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... |
OMIM:253000 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Brachydactyly, Type E2 |
|
Oligodontia, Short stature, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Brachy... |
OMIM:613382 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Cubitus valgus, Joint hyperflexibility, Congenital muscular dystrophy |
ORPHA:1875 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Sho... |
OMIM:103580 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... |
OMIM:253010 |
Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Increased laxity of ankles, Reduced muscle collagen VI, Talipes equinovarus, Failure... |
OMIM:254090 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Prominent calcaneus, Pes planus, Malar flattening, Toe clinodactyly, Lim... |
ORPHA:457395 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Metatarsus valgus, Skeletal musc... |
ORPHA:559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly |
OMIM:619046 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Obesity, Clinodactyly of the 5th toe |
ORPHA:99976 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Achilles tendon contracture, Muscular dystrophy, Calf muscle pseudohypertrophy, Limited shoulder ... |
ORPHA:62 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Cleft palate, Dysplasia of the femoral head, Reduced bone mineral density... |
ORPHA:94068 |
Dpm1-Cdg |
|
Flat occiput, High, narrow palate, Micrognathia, Smooth philtrum, U-Shaped upper lip vermilion, F... |
ORPHA:79322 |
Myopathy, Myofibrillar, 6 |
|
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... |
OMIM:612954 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Hemoglobin E Disease |
|
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular volume, Neutrope... |
OMIM:612562 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... |
OMIM:305620 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Spinal canal stenosis, Genu varum, Tibial bowing, Growth delay, Short... |
ORPHA:289176 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Short metacarpal,... |
OMIM:612462 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Tibial bowing, Radial bowing, Pulmonary hypoplasia, Abnormality of the lower limb, ... |
ORPHA:3035 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial suture closure... |
OMIM:175700 |
Gapo Syndrome |
|
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Hypoplastic nipples, ... |
OMIM:230740 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Sparse eyelashes |
OMIM:300946 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Decreased circulating antibody level, Acute myelomonocytic leukemia, Splenome... |
ORPHA:2585 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Mediastinal lymphadenopathy, Pituitary null cell adenoma, Neoplasm of the thymus, ... |
ORPHA:97289 |
Hereditary Spherocytosis |
|
Hepatomegaly, Growth delay, Anemia, Gout, Cholelithiasis, Splenomegaly, Extramedullary hematopoie... |
ORPHA:822 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular aplasia, Gingival overgr... |
ORPHA:1832 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Hypoplasia of the femoral head, Pne... |
OMIM:209950 |
Gorham-Stout Disease |
|
Abnormality of ethmoid bone, Abnormality of femur morphology, Osteolysis involving bones of the l... |
ORPHA:73 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Abnormal dental enamel morphology, Delayed eruption of ... |
OMIM:257850 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Myopathy, Brachycephaly, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... |
ORPHA:272 |
Buschke-Ollendorff Syndrome |
|
Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... |
ORPHA:1306 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... |
ORPHA:75508 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... |
OMIM:258850 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Hypodontia, Cleft palate, Microdontia, Short phi... |
ORPHA:3474 |
Three M Syndrome 2 |
|
High palate, Intrauterine growth retardation, Small for gestational age, Long philtrum, Short sta... |
OMIM:612921 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Diamond-Blackfan Anemia 11 |
|
Cleft palate, Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Hypoplasia of the ... |
OMIM:614900 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer |
OMIM:618852 |
Wolfram Syndrome, Mitochondrial Form |
|
Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, T... |
OMIM:598500 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, High palate, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Retr... |
OMIM:618393 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Midface retrusion, Finger syndactyly, Elbow dislocation, Camptodactyly of f... |
ORPHA:1507 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... |
OMIM:611307 |
Sponastrime Dysplasia |
|
Neutropenia, Metaphyseal irregularity, Pes planus, Obtuse angle of mandible, Short dental root, S... |
ORPHA:93357 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... |
ORPHA:363417 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Spinal canal stenosis, Wide mouth, Short stature, Abnormality of epiphysis morphol... |
ORPHA:582 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Oligodontia, Tapered finger, Short stature, Kyphosis, Everted lower lip vermilion, Obesity, Scoli... |
ORPHA:276630 |
Codas Syndrome |
|
Coronal cleft vertebrae, Short stature, Abnormality of epiphysis morphology, Abnormal form of the... |
ORPHA:1458 |
Laron Syndrome |
|
Micrognathia, Microdontia, Abnormality of the elbow, Delayed eruption of teeth, Truncal obesity, ... |
ORPHA:633 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... |
OMIM:618495 |
Orofaciodigital Syndrome I |
|
Carious teeth, Cleft palate, High palate, Polydactyly, Alveolar ridge overgrowth, Tongue nodules,... |
OMIM:311200 |
Majeed Syndrome |
|
Growth delay, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, Flexio... |
OMIM:609628 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Smooth philtrum, High palate, Alveolar ri... |
ORPHA:1655 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Microcephaly |
OMIM:602541 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnormal bone... |
ORPHA:249 |
Microphthalmia With Limb Anomalies |
|
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Syno... |
ORPHA:1106 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Jaundice, Calvarial hyperostosis, ... |
OMIM:612714 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, High palate, Minicore myopathy, Failure to thriv... |
OMIM:602771 |
Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Pierre-Robin sequence, Oligodontia, Malar flattening, Increased bone mineral densit... |
ORPHA:90652 |
Cherubism |
|
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... |
OMIM:118400 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Temple-Baraitser Syndrome |
|
Bilateral ptosis, Malar flattening, Delayed eruption of teeth, Long hallux, Everted upper lip ver... |
ORPHA:420561 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Micrognathia, Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Rhizom... |
OMIM:215100 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Small epiphyses, Micrognathia, Fragmented epiphyses, Upslanted palpebral fissure, Rhizomelia, Epi... |
ORPHA:166016 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Decreased calvarial ossification, Micrognathia, Cleft palate, Pulmonary hypoplasia, Hamartoma of ... |
OMIM:617925 |
Cole-Carpenter Syndrome |
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Micrognathia, Intrauterine growth retardation, Short stature, Bowing of the long bones, Abnormal ... |
ORPHA:2050 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Ankylosis, Premature loss of teeth, Hydroxyprolinemia, Bowing of the long bones, Osteoporosis, Hy... |
OMIM:239000 |
Osteogenesis Imperfecta, Type Iii |
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Decreased calvarial ossification, Micrognathia, Tibial bowing, Multiple prenatal fractures, Wormi... |
OMIM:259420 |
Distal Monosomy 12Q |
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2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Microglossia, Broad hallux, ... |
ORPHA:96149 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging,... |
OMIM:158901 |
Autosomal Dominant Robinow Syndrome |
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Oligodontia, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micrognathia, Hypodon... |
ORPHA:3107 |
Infantile Myofibromatosis |
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Hypercalcemia, Bone cyst, Neoplasm of the lung, Neoplasm of the pancreas, Abnormality of the meta... |
ORPHA:2591 |
Hypophosphatasia, Adult |
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Carious teeth, Premature loss of permanent teeth, Rickets, Increased susceptibility to fractures,... |
OMIM:146300 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Coffin-Siris Syndrome 10 |
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Persistence of primary teeth, Clinodactyly, Wide mouth, Microcephaly |
OMIM:618506 |
Progressive Pseudorheumatoid Dysplasia |
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Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
Immunodeficiency 75 |
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Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia |
OMIM:619126 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... |
OMIM:606612 |
Mantle Cell Lymphoma |
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Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Congenital bilateral hip dislocation, Short stature, Small for gestational age, Kyphosis |
ORPHA:85288 |
Rothmund-Thomson Syndrome Type 2 |
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Carious teeth, Genu varum, Neutropenia, Cleft palate, Leukemia, Abnormal dental enamel morphology... |
ORPHA:221016 |
Acromesomelic Dysplasia 2C |
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Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Ring Chromosome 10 Syndrome |
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Micrognathia, Cachexia, Tapered finger, Long philtrum, Thin vermilion border, Downslanted palpebr... |
ORPHA:1438 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Autoimmune Hypoparathyroidism |
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Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... |
ORPHA:36913 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Ca... |
OMIM:101800 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Cleft palate, Recurrent aspiration pneumonia, High palate, Accessory oral frenulu... |
OMIM:258865 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... |
ORPHA:397973 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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High palate, Talipes equinovarus, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad p... |
OMIM:616354 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
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Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Tibial bowing, Fibular bowing, Thin bony cortex, Growth delay, Bowing of the legs, Rickets, Failu... |
OMIM:241530 |
3M Syndrome |
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Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Increased vertebral ... |
ORPHA:2616 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Macrocytic anemia, Intrauterine growth retardation |
OMIM:615578 |
X-Linked Hypophosphatemia |
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Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... |
ORPHA:89936 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... |
ORPHA:2228 |
X-Linked Non-Syndromic Intellectual Disability |
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Thick lower lip vermilion, 2-3 toe syndactyly, Midface retrusion, Small for gestational age, Long... |
ORPHA:777 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Muscular dystrophy, Talipes equinovarus, Skeletal muscle hypertrophy, Flexion contracture |
OMIM:611588 |
Diamond-Blackfan Anemia 4 |
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Macrocytic anemia, Neutropenia, Growth delay, Short stature, Erythroid hypoplasia, Reticulocytopenia |
OMIM:612527 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Delayed eruption of permanent teeth, Premature loss of teeth, Growth delay, Proportionate short s... |
OMIM:619269 |
Rosaï-Dorfman Disease |
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Lymphadenopathy, Anemia, Osteolysis |
ORPHA:158014 |
Rothmund-Thomson Syndrome Type 1 |
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Carious teeth, Genu varum, Neutropenia, Leukemia, Abnormal dental enamel morphology, Delayed erup... |
ORPHA:221008 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Increased circulat... |
OMIM:618534 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... |
OMIM:201170 |
Formiminoglutamic Aciduria |
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Megaloblastic anemia, Anemia |
ORPHA:51208 |
Antley-Bixler Syndrome |
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Cleft palate, Elbow ankylosis, Long philtrum, Brachycephaly, Narrow pelvis bone, Craniosynostosis... |
ORPHA:83 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Jackson-Weiss Syndrome |
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Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Abnormal palate morph... |
ORPHA:1540 |
Cole-Carpenter Syndrome 2 |
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High palate, Wormian bones, Osteopenia, Narrow iliac wing, Frontal bossing, Macrocephaly, Dentino... |
OMIM:616294 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Microcephaly, Narrow... |
OMIM:612447 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Short stature, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, A... |
ORPHA:417 |
Myopathy, Myofibrillar, 2 |
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Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Orofaciodigital Syndrome Type 10 |
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Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Rhizomelic Syndrome, Urbach Type |
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Micrognathia, High palate, Cleft palate, Triphalangeal thumb, Short stature, Abnormality of epiph... |
ORPHA:3098 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormality of the lymph nodes |
OMIM:136580 |
Rhabdoid Tumor |
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Hypercalcemia, Lymphadenopathy, Weight loss, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus, Short stature |
ORPHA:49827 |
Minicore Myopathy With External Ophthalmoplegia |
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